Incidental Mutation 'R1955:Plch1'
| ID |
217643 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plch1
|
| Ensembl Gene |
ENSMUSG00000036834 |
| Gene Name |
phospholipase C, eta 1 |
| Synonyms |
Plcl3, PLCeta1 |
| MMRRC Submission |
039969-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R1955 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
63603655-63806893 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 63662688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 272
(V272I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048134]
[ENSMUST00000059973]
[ENSMUST00000084105]
[ENSMUST00000159676]
[ENSMUST00000160638]
[ENSMUST00000162269]
[ENSMUST00000175947]
[ENSMUST00000177143]
|
| AlphaFold |
Q4KWH5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048134
AA Change: V254I
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000047693
Gene: ENSMUSG00000036834
AA Change: V254I
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
3 |
112 |
2.37e-6 |
SMART |
|
EFh
|
128 |
156 |
2.41e-4 |
SMART |
|
EFh
|
164 |
193 |
1.54e-2 |
SMART |
|
Pfam:EF-hand_like
|
198 |
280 |
2.2e-26 |
PFAM |
|
PLCXc
|
281 |
426 |
3.13e-71 |
SMART |
|
low complexity region
|
440 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
564 |
581 |
N/A |
INTRINSIC |
|
PLCYc
|
583 |
696 |
3.4e-49 |
SMART |
|
C2
|
715 |
823 |
5.47e-22 |
SMART |
|
low complexity region
|
979 |
997 |
N/A |
INTRINSIC |
|
low complexity region
|
1079 |
1091 |
N/A |
INTRINSIC |
|
low complexity region
|
1420 |
1435 |
N/A |
INTRINSIC |
|
low complexity region
|
1543 |
1557 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059973
AA Change: V272I
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000058524
Gene: ENSMUSG00000036834
AA Change: V272I
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
21 |
130 |
1.1e-8 |
SMART |
|
EFh
|
146 |
174 |
1.1e-6 |
SMART |
|
EFh
|
182 |
211 |
7.6e-5 |
SMART |
|
Pfam:EF-hand_like
|
216 |
298 |
4.5e-24 |
PFAM |
|
PLCXc
|
299 |
444 |
1.6e-73 |
SMART |
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
599 |
N/A |
INTRINSIC |
|
PLCYc
|
601 |
714 |
1.7e-51 |
SMART |
|
C2
|
733 |
841 |
3.7e-24 |
SMART |
|
low complexity region
|
1017 |
1035 |
N/A |
INTRINSIC |
|
low complexity region
|
1117 |
1129 |
N/A |
INTRINSIC |
|
low complexity region
|
1458 |
1473 |
N/A |
INTRINSIC |
|
low complexity region
|
1581 |
1595 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084105
AA Change: V272I
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000081122
Gene: ENSMUSG00000036834
AA Change: V272I
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
21 |
130 |
2.37e-6 |
SMART |
|
EFh
|
146 |
174 |
2.41e-4 |
SMART |
|
EFh
|
182 |
211 |
1.54e-2 |
SMART |
|
Pfam:EF-hand_like
|
216 |
298 |
2.4e-27 |
PFAM |
|
PLCXc
|
299 |
444 |
3.13e-71 |
SMART |
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
600 |
N/A |
INTRINSIC |
|
PLCYc
|
602 |
715 |
3.4e-49 |
SMART |
|
C2
|
734 |
842 |
5.47e-22 |
SMART |
|
low complexity region
|
1018 |
1036 |
N/A |
INTRINSIC |
|
low complexity region
|
1118 |
1130 |
N/A |
INTRINSIC |
|
low complexity region
|
1459 |
1474 |
N/A |
INTRINSIC |
|
low complexity region
|
1582 |
1596 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159676
AA Change: V272I
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124632
Gene: ENSMUSG00000036834
AA Change: V272I
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
21 |
130 |
2.37e-6 |
SMART |
|
EFh
|
146 |
174 |
2.41e-4 |
SMART |
|
EFh
|
182 |
211 |
1.54e-2 |
SMART |
|
Pfam:EF-hand_like
|
216 |
298 |
1.8e-26 |
PFAM |
|
PLCXc
|
299 |
444 |
3.13e-71 |
SMART |
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
600 |
N/A |
INTRINSIC |
|
PLCYc
|
602 |
715 |
3.4e-49 |
SMART |
|
C2
|
734 |
842 |
5.47e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160638
AA Change: V272I
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000123921
Gene: ENSMUSG00000036834
AA Change: V272I
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
21 |
130 |
2.37e-6 |
SMART |
|
EFh
|
146 |
174 |
2.41e-4 |
SMART |
|
EFh
|
182 |
211 |
1.54e-2 |
SMART |
|
Pfam:EF-hand_like
|
216 |
298 |
5.3e-28 |
PFAM |
|
PLCXc
|
299 |
444 |
3.13e-71 |
SMART |
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
600 |
N/A |
INTRINSIC |
|
PLCYc
|
602 |
715 |
3.4e-49 |
SMART |
|
C2
|
734 |
842 |
5.47e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162269
AA Change: V272I
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124463
Gene: ENSMUSG00000036834
AA Change: V272I
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
21 |
130 |
2.37e-6 |
SMART |
|
EFh
|
146 |
174 |
2.41e-4 |
SMART |
|
EFh
|
182 |
211 |
1.54e-2 |
SMART |
|
Pfam:EF-hand_like
|
216 |
298 |
1.7e-26 |
PFAM |
|
PLCXc
|
299 |
444 |
3.13e-71 |
SMART |
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
600 |
N/A |
INTRINSIC |
|
PLCYc
|
602 |
715 |
3.4e-49 |
SMART |
|
C2
|
734 |
842 |
5.47e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175947
AA Change: V272I
PolyPhen 2
Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000135353
Gene: ENSMUSG00000036834
AA Change: V272I
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
21 |
130 |
2.37e-6 |
SMART |
|
EFh
|
146 |
174 |
2.41e-4 |
SMART |
|
EFh
|
182 |
211 |
1.54e-2 |
SMART |
|
Pfam:EF-hand_like
|
216 |
298 |
1.2e-26 |
PFAM |
|
PLCXc
|
299 |
444 |
3.13e-71 |
SMART |
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
599 |
N/A |
INTRINSIC |
|
PLCYc
|
601 |
714 |
3.4e-49 |
SMART |
|
C2
|
733 |
841 |
5.47e-22 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177143
AA Change: V284I
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135424
Gene: ENSMUSG00000036834
AA Change: V284I
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
33 |
142 |
2.37e-6 |
SMART |
|
EFh
|
158 |
186 |
2.41e-4 |
SMART |
|
EFh
|
194 |
223 |
1.54e-2 |
SMART |
|
Pfam:EF-hand_like
|
228 |
310 |
2.3e-26 |
PFAM |
|
PLCXc
|
311 |
456 |
3.13e-71 |
SMART |
|
low complexity region
|
470 |
483 |
N/A |
INTRINSIC |
|
low complexity region
|
594 |
611 |
N/A |
INTRINSIC |
|
PLCYc
|
613 |
726 |
3.4e-49 |
SMART |
|
C2
|
745 |
853 |
5.47e-22 |
SMART |
|
low complexity region
|
1009 |
1027 |
N/A |
INTRINSIC |
|
low complexity region
|
1109 |
1121 |
N/A |
INTRINSIC |
|
low complexity region
|
1450 |
1465 |
N/A |
INTRINSIC |
|
low complexity region
|
1573 |
1587 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PLCH1 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) (Hwang et al., 2005 [PubMed 15702972]).[supplied by OMIM, Jun 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 101 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
T |
A |
1: 53,202,400 (GRCm39) |
K128N |
probably benign |
Het |
| Acadm |
A |
C |
3: 153,635,188 (GRCm39) |
F309V |
probably damaging |
Het |
| Adam6b |
C |
A |
12: 113,455,436 (GRCm39) |
A751E |
probably benign |
Het |
| Adcy9 |
A |
G |
16: 4,236,523 (GRCm39) |
I296T |
possibly damaging |
Het |
| Arhgap45 |
A |
G |
10: 79,862,326 (GRCm39) |
E471G |
probably benign |
Het |
| Atcay |
T |
C |
10: 81,050,627 (GRCm39) |
D96G |
possibly damaging |
Het |
| B3galt4 |
T |
A |
17: 34,169,606 (GRCm39) |
R211* |
probably null |
Het |
| Bpi |
T |
C |
2: 158,116,635 (GRCm39) |
I344T |
probably damaging |
Het |
| Btnl4 |
T |
C |
17: 34,691,904 (GRCm39) |
K233E |
possibly damaging |
Het |
| Cars2 |
A |
T |
8: 11,600,286 (GRCm39) |
Y68N |
probably damaging |
Het |
| Cd207 |
T |
A |
6: 83,648,757 (GRCm39) |
R302W |
probably benign |
Het |
| Cdc5l |
T |
C |
17: 45,737,442 (GRCm39) |
|
probably null |
Het |
| Chaf1a |
C |
T |
17: 56,354,540 (GRCm39) |
T270I |
unknown |
Het |
| Col4a1 |
C |
T |
8: 11,258,228 (GRCm39) |
|
probably null |
Het |
| Col7a1 |
G |
T |
9: 108,784,732 (GRCm39) |
V187L |
unknown |
Het |
| Cry1 |
G |
A |
10: 84,980,042 (GRCm39) |
T422I |
probably benign |
Het |
| Csgalnact1 |
C |
T |
8: 68,825,319 (GRCm39) |
V392I |
probably benign |
Het |
| Cyp2c38 |
A |
G |
19: 39,393,131 (GRCm39) |
L312P |
probably damaging |
Het |
| Ddx20 |
G |
A |
3: 105,586,878 (GRCm39) |
T489M |
possibly damaging |
Het |
| Decr1 |
A |
T |
4: 15,924,256 (GRCm39) |
N221K |
probably benign |
Het |
| Dennd4a |
A |
T |
9: 64,759,749 (GRCm39) |
T285S |
probably benign |
Het |
| Dgka |
A |
G |
10: 128,566,058 (GRCm39) |
|
probably null |
Het |
| Dmd |
A |
T |
X: 82,922,163 (GRCm39) |
M1478L |
probably benign |
Het |
| Dvl1 |
G |
A |
4: 155,942,486 (GRCm39) |
R584Q |
possibly damaging |
Het |
| Dync1li1 |
A |
T |
9: 114,550,814 (GRCm39) |
S450C |
probably damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,760,697 (GRCm39) |
V1558A |
possibly damaging |
Het |
| Esr1 |
T |
A |
10: 4,807,125 (GRCm39) |
M347K |
probably damaging |
Het |
| F2 |
T |
A |
2: 91,463,440 (GRCm39) |
H148L |
probably benign |
Het |
| Fezf2 |
T |
C |
14: 12,342,644 (GRCm38) |
N407S |
probably benign |
Het |
| Fscn3 |
T |
A |
6: 28,430,235 (GRCm39) |
M135K |
possibly damaging |
Het |
| Ganab |
T |
G |
19: 8,888,980 (GRCm39) |
Y560* |
probably null |
Het |
| Garem2 |
T |
C |
5: 30,313,268 (GRCm39) |
V44A |
probably benign |
Het |
| Gja4 |
A |
G |
4: 127,206,242 (GRCm39) |
W174R |
probably damaging |
Het |
| Gja5 |
A |
T |
3: 96,958,957 (GRCm39) |
H338L |
probably benign |
Het |
| Gm43517 |
A |
G |
12: 49,436,672 (GRCm39) |
|
probably benign |
Het |
| Iqch |
A |
T |
9: 63,455,298 (GRCm39) |
D166E |
probably benign |
Het |
| Kifc5b |
T |
A |
17: 27,145,271 (GRCm39) |
|
probably null |
Het |
| Kmt2b |
A |
T |
7: 30,274,776 (GRCm39) |
M1976K |
possibly damaging |
Het |
| Leng1 |
A |
T |
7: 3,668,415 (GRCm39) |
V11D |
probably damaging |
Het |
| Lrit3 |
A |
G |
3: 129,594,130 (GRCm39) |
V149A |
probably benign |
Het |
| Lrpap1 |
A |
G |
5: 35,259,756 (GRCm39) |
L114P |
probably damaging |
Het |
| Marveld3 |
T |
A |
8: 110,686,380 (GRCm39) |
D162V |
probably benign |
Het |
| Mon2 |
A |
T |
10: 122,874,388 (GRCm39) |
I320N |
probably damaging |
Het |
| Morc2b |
T |
C |
17: 33,356,464 (GRCm39) |
Y436C |
probably damaging |
Het |
| Myo7a |
A |
T |
7: 97,704,128 (GRCm39) |
V1928D |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,248,741 (GRCm39) |
V1521A |
possibly damaging |
Het |
| Nexmif |
A |
G |
X: 103,127,559 (GRCm39) |
S1453P |
possibly damaging |
Het |
| Nudt16l1 |
A |
G |
16: 4,758,189 (GRCm39) |
M182V |
probably benign |
Het |
| Obp2b |
A |
T |
2: 25,628,563 (GRCm39) |
I106L |
probably benign |
Het |
| Or10ag59 |
T |
A |
2: 87,406,349 (GRCm39) |
L307Q |
probably damaging |
Het |
| Or4a2 |
T |
A |
2: 89,248,755 (GRCm39) |
M1L |
probably damaging |
Het |
| Or5h18 |
T |
A |
16: 58,847,774 (GRCm39) |
R165S |
probably damaging |
Het |
| Or8b43 |
T |
C |
9: 38,360,984 (GRCm39) |
I272T |
probably benign |
Het |
| Parl |
T |
A |
16: 20,121,077 (GRCm39) |
M1L |
possibly damaging |
Het |
| Pde7a |
G |
A |
3: 19,281,963 (GRCm39) |
A429V |
probably damaging |
Het |
| Pkd1l2 |
T |
A |
8: 117,770,100 (GRCm39) |
M1119L |
probably benign |
Het |
| Plekha4 |
G |
A |
7: 45,203,330 (GRCm39) |
G740D |
probably damaging |
Het |
| Pnliprp1 |
A |
G |
19: 58,723,404 (GRCm39) |
D265G |
possibly damaging |
Het |
| Pola1 |
A |
C |
X: 92,640,867 (GRCm39) |
V384G |
probably damaging |
Het |
| Pon3 |
T |
A |
6: 5,230,774 (GRCm39) |
D251V |
probably benign |
Het |
| Pot1b |
A |
G |
17: 55,981,067 (GRCm39) |
C316R |
possibly damaging |
Het |
| Prkaca |
T |
A |
8: 84,714,946 (GRCm39) |
V116E |
probably damaging |
Het |
| Prpf6 |
T |
G |
2: 181,273,870 (GRCm39) |
M338R |
probably benign |
Het |
| Rasgef1c |
A |
G |
11: 49,866,542 (GRCm39) |
H382R |
possibly damaging |
Het |
| Rlig1 |
A |
G |
10: 100,413,166 (GRCm39) |
V91A |
probably damaging |
Het |
| Rps25 |
C |
T |
9: 44,321,305 (GRCm39) |
T113I |
probably benign |
Het |
| Serpinb1b |
G |
T |
13: 33,269,422 (GRCm39) |
A52S |
probably benign |
Het |
| Sh3yl1 |
A |
G |
12: 30,972,332 (GRCm39) |
K34E |
possibly damaging |
Het |
| Siah2 |
C |
T |
3: 58,583,518 (GRCm39) |
R256Q |
probably damaging |
Het |
| Slc24a2 |
A |
G |
4: 86,991,481 (GRCm39) |
L404P |
probably damaging |
Het |
| Slc28a2 |
G |
A |
2: 122,278,347 (GRCm39) |
C122Y |
probably benign |
Het |
| Slc4a8 |
T |
C |
15: 100,705,257 (GRCm39) |
I821T |
probably damaging |
Het |
| Slc5a3 |
T |
C |
16: 91,874,762 (GRCm39) |
V273A |
possibly damaging |
Het |
| Spag7 |
T |
C |
11: 70,555,844 (GRCm39) |
Q61R |
probably benign |
Het |
| Syt7 |
A |
T |
19: 10,395,402 (GRCm39) |
I71F |
probably damaging |
Het |
| Tars2 |
T |
C |
3: 95,654,766 (GRCm39) |
N413S |
probably damaging |
Het |
| Tex14 |
T |
A |
11: 87,400,447 (GRCm39) |
L413Q |
probably damaging |
Het |
| Tjp3 |
T |
C |
10: 81,113,833 (GRCm39) |
E475G |
probably damaging |
Het |
| Tmem131l |
A |
G |
3: 83,868,851 (GRCm39) |
S175P |
probably damaging |
Het |
| Tmem144 |
C |
T |
3: 79,734,164 (GRCm39) |
V180M |
probably benign |
Het |
| Tmem200c |
A |
T |
17: 69,147,956 (GRCm39) |
I180F |
probably damaging |
Het |
| Tmem232 |
G |
T |
17: 65,791,482 (GRCm39) |
H129N |
probably benign |
Het |
| Tmprss11g |
T |
A |
5: 86,646,391 (GRCm39) |
I59F |
probably damaging |
Het |
| Tmprss2 |
T |
A |
16: 97,368,377 (GRCm39) |
|
probably null |
Het |
| Tor1aip2 |
T |
A |
1: 155,927,588 (GRCm39) |
|
probably benign |
Het |
| Trim61 |
T |
C |
8: 65,466,044 (GRCm39) |
I406V |
possibly damaging |
Het |
| Trpv5 |
T |
C |
6: 41,634,871 (GRCm39) |
D486G |
probably damaging |
Het |
| Try5 |
T |
C |
6: 41,288,703 (GRCm39) |
E64G |
probably benign |
Het |
| Txlnb |
A |
G |
10: 17,675,168 (GRCm39) |
E107G |
probably damaging |
Het |
| Ube2frt |
A |
G |
12: 36,140,595 (GRCm39) |
|
probably benign |
Het |
| Uckl1 |
T |
C |
2: 181,212,320 (GRCm39) |
Q332R |
probably benign |
Het |
| Ugt2b1 |
T |
C |
5: 87,065,572 (GRCm39) |
Y489C |
probably damaging |
Het |
| Ugt2b5 |
T |
A |
5: 87,275,631 (GRCm39) |
M407L |
probably benign |
Het |
| Vmn1r191 |
A |
T |
13: 22,362,985 (GRCm39) |
S256R |
possibly damaging |
Het |
| Vps13b |
T |
G |
15: 35,925,554 (GRCm39) |
|
probably null |
Het |
| Vps13d |
A |
G |
4: 144,882,713 (GRCm39) |
F960S |
probably damaging |
Het |
| Xab2 |
T |
A |
8: 3,666,094 (GRCm39) |
D227V |
probably damaging |
Het |
| Xaf1 |
A |
T |
11: 72,197,432 (GRCm39) |
D136V |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,387,545 (GRCm39) |
S4889P |
unknown |
Het |
| Zfp78 |
A |
G |
7: 6,381,558 (GRCm39) |
T203A |
probably benign |
Het |
| Zfp821 |
T |
C |
8: 110,447,874 (GRCm39) |
S72P |
probably damaging |
Het |
|
| Other mutations in Plch1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01397:Plch1
|
APN |
3 |
63,639,150 (GRCm39) |
splice site |
probably null |
|
|
IGL01542:Plch1
|
APN |
3 |
63,639,070 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01999:Plch1
|
APN |
3 |
63,660,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02153:Plch1
|
APN |
3 |
63,688,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02203:Plch1
|
APN |
3 |
63,606,160 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02220:Plch1
|
APN |
3 |
63,606,382 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02259:Plch1
|
APN |
3 |
63,630,170 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02268:Plch1
|
APN |
3 |
63,606,704 (GRCm39) |
makesense |
probably null |
|
|
IGL02411:Plch1
|
APN |
3 |
63,605,177 (GRCm39) |
splice site |
probably null |
|
|
IGL02472:Plch1
|
APN |
3 |
63,609,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02477:Plch1
|
APN |
3 |
63,660,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02503:Plch1
|
APN |
3 |
63,605,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02800:Plch1
|
APN |
3 |
63,605,899 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL03167:Plch1
|
APN |
3 |
63,630,165 (GRCm39) |
splice site |
probably benign |
|
|
IGL03182:Plch1
|
APN |
3 |
63,610,015 (GRCm39) |
nonsense |
probably null |
|
|
IGL03197:Plch1
|
APN |
3 |
63,660,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03251:Plch1
|
APN |
3 |
63,691,423 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
BB009:Plch1
|
UTSW |
3 |
63,609,402 (GRCm39) |
missense |
probably benign |
0.05 |
|
BB019:Plch1
|
UTSW |
3 |
63,609,402 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0335:Plch1
|
UTSW |
3 |
63,618,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0347:Plch1
|
UTSW |
3 |
63,660,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0631:Plch1
|
UTSW |
3 |
63,606,640 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0687:Plch1
|
UTSW |
3 |
63,623,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0738:Plch1
|
UTSW |
3 |
63,609,974 (GRCm39) |
intron |
probably benign |
|
|
R0883:Plch1
|
UTSW |
3 |
63,660,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1437:Plch1
|
UTSW |
3 |
63,604,954 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1678:Plch1
|
UTSW |
3 |
63,648,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1738:Plch1
|
UTSW |
3 |
63,626,659 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1929:Plch1
|
UTSW |
3 |
63,651,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2078:Plch1
|
UTSW |
3 |
63,609,364 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2112:Plch1
|
UTSW |
3 |
63,630,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2158:Plch1
|
UTSW |
3 |
63,628,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2165:Plch1
|
UTSW |
3 |
63,605,903 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2259:Plch1
|
UTSW |
3 |
63,605,398 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2271:Plch1
|
UTSW |
3 |
63,651,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3110:Plch1
|
UTSW |
3 |
63,616,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3112:Plch1
|
UTSW |
3 |
63,616,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3407:Plch1
|
UTSW |
3 |
63,606,768 (GRCm39) |
unclassified |
probably benign |
|
|
R3408:Plch1
|
UTSW |
3 |
63,606,768 (GRCm39) |
unclassified |
probably benign |
|
|
R3791:Plch1
|
UTSW |
3 |
63,606,944 (GRCm39) |
missense |
probably benign |
|
|
R3793:Plch1
|
UTSW |
3 |
63,605,252 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3928:Plch1
|
UTSW |
3 |
63,675,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4211:Plch1
|
UTSW |
3 |
63,618,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4212:Plch1
|
UTSW |
3 |
63,778,180 (GRCm39) |
start gained |
probably benign |
|
|
R4223:Plch1
|
UTSW |
3 |
63,609,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4491:Plch1
|
UTSW |
3 |
63,648,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4589:Plch1
|
UTSW |
3 |
63,688,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4656:Plch1
|
UTSW |
3 |
63,611,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4701:Plch1
|
UTSW |
3 |
63,606,917 (GRCm39) |
splice site |
probably null |
|
|
R4716:Plch1
|
UTSW |
3 |
63,688,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4772:Plch1
|
UTSW |
3 |
63,660,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4902:Plch1
|
UTSW |
3 |
63,648,264 (GRCm39) |
intron |
probably benign |
|
|
R5058:Plch1
|
UTSW |
3 |
63,630,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Plch1
|
UTSW |
3 |
63,606,131 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5093:Plch1
|
UTSW |
3 |
63,681,136 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5210:Plch1
|
UTSW |
3 |
63,607,199 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5368:Plch1
|
UTSW |
3 |
63,609,394 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5373:Plch1
|
UTSW |
3 |
63,605,499 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5374:Plch1
|
UTSW |
3 |
63,605,499 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5501:Plch1
|
UTSW |
3 |
63,615,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5606:Plch1
|
UTSW |
3 |
63,648,108 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5738:Plch1
|
UTSW |
3 |
63,681,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5835:Plch1
|
UTSW |
3 |
63,604,943 (GRCm39) |
missense |
probably benign |
|
|
R6106:Plch1
|
UTSW |
3 |
63,609,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6107:Plch1
|
UTSW |
3 |
63,609,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6108:Plch1
|
UTSW |
3 |
63,609,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6110:Plch1
|
UTSW |
3 |
63,606,279 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6116:Plch1
|
UTSW |
3 |
63,609,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6147:Plch1
|
UTSW |
3 |
63,630,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6195:Plch1
|
UTSW |
3 |
63,648,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6315:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
|
R6316:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
|
R6317:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
|
R6318:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
|
R6324:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
|
R6325:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
|
R6326:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
|
R6479:Plch1
|
UTSW |
3 |
63,651,931 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6544:Plch1
|
UTSW |
3 |
63,758,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6767:Plch1
|
UTSW |
3 |
63,662,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6829:Plch1
|
UTSW |
3 |
63,604,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6891:Plch1
|
UTSW |
3 |
63,605,504 (GRCm39) |
missense |
probably benign |
|
|
R6893:Plch1
|
UTSW |
3 |
63,660,562 (GRCm39) |
nonsense |
probably null |
|
|
R6921:Plch1
|
UTSW |
3 |
63,615,155 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7298:Plch1
|
UTSW |
3 |
63,623,458 (GRCm39) |
nonsense |
probably null |
|
|
R7396:Plch1
|
UTSW |
3 |
63,606,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7420:Plch1
|
UTSW |
3 |
63,630,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7566:Plch1
|
UTSW |
3 |
63,688,663 (GRCm39) |
splice site |
probably null |
|
|
R7572:Plch1
|
UTSW |
3 |
63,648,105 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7649:Plch1
|
UTSW |
3 |
63,605,590 (GRCm39) |
nonsense |
probably null |
|
|
R7696:Plch1
|
UTSW |
3 |
63,662,726 (GRCm39) |
missense |
probably benign |
|
|
R7851:Plch1
|
UTSW |
3 |
63,605,855 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7853:Plch1
|
UTSW |
3 |
63,681,068 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7932:Plch1
|
UTSW |
3 |
63,609,402 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7983:Plch1
|
UTSW |
3 |
63,615,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8057:Plch1
|
UTSW |
3 |
63,605,557 (GRCm39) |
missense |
probably benign |
|
|
R8066:Plch1
|
UTSW |
3 |
63,618,478 (GRCm39) |
nonsense |
probably null |
|
|
R8206:Plch1
|
UTSW |
3 |
63,610,047 (GRCm39) |
splice site |
probably null |
|
|
R8678:Plch1
|
UTSW |
3 |
63,623,468 (GRCm39) |
nonsense |
probably null |
|
|
R8731:Plch1
|
UTSW |
3 |
63,605,059 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8739:Plch1
|
UTSW |
3 |
63,778,106 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8853:Plch1
|
UTSW |
3 |
63,688,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8875:Plch1
|
UTSW |
3 |
63,618,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8945:Plch1
|
UTSW |
3 |
63,639,039 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8947:Plch1
|
UTSW |
3 |
63,691,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8953:Plch1
|
UTSW |
3 |
63,639,126 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9065:Plch1
|
UTSW |
3 |
63,674,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9068:Plch1
|
UTSW |
3 |
63,612,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9188:Plch1
|
UTSW |
3 |
63,639,075 (GRCm39) |
missense |
probably null |
1.00 |
|
R9238:Plch1
|
UTSW |
3 |
63,606,412 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9478:Plch1
|
UTSW |
3 |
63,606,825 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9526:Plch1
|
UTSW |
3 |
63,758,549 (GRCm39) |
intron |
probably benign |
|
|
R9539:Plch1
|
UTSW |
3 |
63,691,427 (GRCm39) |
missense |
probably null |
0.01 |
|
R9634:Plch1
|
UTSW |
3 |
63,605,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9643:Plch1
|
UTSW |
3 |
63,660,747 (GRCm39) |
missense |
|
|
|
R9659:Plch1
|
UTSW |
3 |
63,681,136 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9711:Plch1
|
UTSW |
3 |
63,615,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9788:Plch1
|
UTSW |
3 |
63,681,136 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9799:Plch1
|
UTSW |
3 |
63,605,591 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
RF018:Plch1
|
UTSW |
3 |
63,628,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Plch1
|
UTSW |
3 |
63,651,930 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATGGTAGCTTAAGGAGTACGGC -3'
(R):5'- TCCAGACAGTGCTTCCTGAAG -3'
Sequencing Primer
(F):5'- TAGCTTAAGGAGTACGGCAAAAATAG -3'
(R):5'- TGAAGCGCCCTGAACTATG -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation