Incidental Mutation 'R5093:Plch1'
| ID |
387901 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plch1
|
| Ensembl Gene |
ENSMUSG00000036834 |
| Gene Name |
phospholipase C, eta 1 |
| Synonyms |
Plcl3, PLCeta1 |
| MMRRC Submission |
042682-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R5093 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
63603655-63806893 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 63681136 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 164
(I164F)
|
| 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: I146F
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000047693
Gene: ENSMUSG00000036834
AA Change: I146F
| 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: I164F
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000058524
Gene: ENSMUSG00000036834
AA Change: I164F
| 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: I164F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000081122
Gene: ENSMUSG00000036834
AA Change: I164F
| 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 |
noncoding transcript
Transcript: ENSMUST00000157735
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159676
AA Change: I164F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124632
Gene: ENSMUSG00000036834
AA Change: I164F
| 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 |
possibly damaging
Transcript: ENSMUST00000160638
AA Change: I164F
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123921
Gene: ENSMUSG00000036834
AA Change: I164F
| 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: I164F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124463
Gene: ENSMUSG00000036834
AA Change: I164F
| 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: I164F
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000135353
Gene: ENSMUSG00000036834
AA Change: I164F
| 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 |
probably damaging
Transcript: ENSMUST00000177143
AA Change: I176F
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135424
Gene: ENSMUSG00000036834
AA Change: I176F
| 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 |
|
| Meta Mutation Damage Score |
0.1894 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
99% (90/91) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
C |
T |
13: 119,610,573 (GRCm39) |
|
probably benign |
Het |
| Abca9 |
A |
T |
11: 110,032,358 (GRCm39) |
L753Q |
probably damaging |
Het |
| Acvrl1 |
A |
G |
15: 101,032,628 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,740,704 (GRCm39) |
N141K |
probably damaging |
Het |
| Aftph |
C |
T |
11: 20,659,619 (GRCm39) |
|
probably null |
Het |
| Aifm1 |
C |
T |
X: 47,571,637 (GRCm39) |
G371S |
probably benign |
Het |
| Aldh3b2 |
A |
G |
19: 4,029,433 (GRCm39) |
M269V |
probably benign |
Het |
| Ankrd44 |
T |
C |
1: 54,802,877 (GRCm39) |
Y207C |
probably damaging |
Het |
| Arhgap15 |
G |
T |
2: 44,212,767 (GRCm39) |
M412I |
probably damaging |
Het |
| Auts2 |
A |
C |
5: 131,468,296 (GRCm39) |
L783R |
probably damaging |
Het |
| Baiap2l1 |
A |
T |
5: 144,215,363 (GRCm39) |
Y381N |
probably damaging |
Het |
| Baiap3 |
T |
C |
17: 25,469,243 (GRCm39) |
D180G |
probably damaging |
Het |
| Cant1 |
T |
C |
11: 118,302,038 (GRCm39) |
Y93C |
probably damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,416,423 (GRCm39) |
S330G |
probably benign |
Het |
| Ccdc73 |
A |
T |
2: 104,848,111 (GRCm39) |
|
probably benign |
Het |
| Cdc5l |
A |
T |
17: 45,703,967 (GRCm39) |
F752L |
possibly damaging |
Het |
| Celsr2 |
G |
T |
3: 108,320,689 (GRCm39) |
H708N |
possibly damaging |
Het |
| Cep170 |
T |
A |
1: 176,596,896 (GRCm39) |
K487M |
possibly damaging |
Het |
| Cerkl |
A |
T |
2: 79,163,867 (GRCm39) |
N66K |
probably damaging |
Het |
| Cilk1 |
G |
A |
9: 78,047,303 (GRCm39) |
V68I |
probably benign |
Het |
| Clec11a |
C |
T |
7: 43,954,150 (GRCm39) |
A268T |
probably damaging |
Het |
| Ctnna2 |
C |
A |
6: 77,091,912 (GRCm39) |
|
probably null |
Het |
| Diaph3 |
C |
A |
14: 87,222,236 (GRCm39) |
R416L |
probably damaging |
Het |
| Dnmbp |
T |
A |
19: 43,838,315 (GRCm39) |
N1170I |
probably damaging |
Het |
| Erbb2 |
G |
T |
11: 98,318,279 (GRCm39) |
C505F |
probably damaging |
Het |
| Ercc6 |
T |
A |
14: 32,289,479 (GRCm39) |
F904L |
probably damaging |
Het |
| Exo5 |
C |
T |
4: 120,779,514 (GRCm39) |
G117D |
probably damaging |
Het |
| F2 |
CAGAAAG |
CAG |
2: 91,465,302 (GRCm39) |
|
probably benign |
Het |
| Fbxl5 |
A |
G |
5: 43,930,896 (GRCm39) |
Y64H |
probably damaging |
Het |
| Gabra4 |
T |
A |
5: 71,798,207 (GRCm39) |
M207L |
probably damaging |
Het |
| Galnt15 |
T |
C |
14: 31,771,786 (GRCm39) |
L277P |
probably damaging |
Het |
| Gclm |
T |
C |
3: 122,049,261 (GRCm39) |
|
probably null |
Het |
| Gm5493 |
T |
A |
17: 22,966,201 (GRCm39) |
C29S |
possibly damaging |
Het |
| Grik3 |
A |
G |
4: 125,564,382 (GRCm39) |
T455A |
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,639,766 (GRCm39) |
V93A |
probably benign |
Het |
| Hdgfl2 |
C |
T |
17: 56,406,217 (GRCm39) |
A535V |
possibly damaging |
Het |
| Hfm1 |
A |
T |
5: 107,049,597 (GRCm39) |
S455T |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,613,007 (GRCm39) |
D1424V |
probably benign |
Het |
| Hsd3b6 |
C |
T |
3: 98,715,120 (GRCm39) |
V91I |
probably benign |
Het |
| Igdcc4 |
G |
A |
9: 65,030,039 (GRCm39) |
S363N |
possibly damaging |
Het |
| Intu |
T |
C |
3: 40,647,347 (GRCm39) |
V740A |
probably benign |
Het |
| Itga2 |
C |
T |
13: 114,992,717 (GRCm39) |
V838I |
probably benign |
Het |
| Kif9 |
A |
G |
9: 110,318,965 (GRCm39) |
E143G |
probably damaging |
Het |
| Kmt2c |
T |
A |
5: 25,614,205 (GRCm39) |
I172F |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,754,043 (GRCm39) |
R21W |
probably damaging |
Het |
| Mdh1b |
A |
T |
1: 63,750,620 (GRCm39) |
D449E |
probably benign |
Het |
| Meis1 |
T |
C |
11: 18,831,785 (GRCm39) |
I418V |
probably benign |
Het |
| Nags |
T |
A |
11: 102,037,395 (GRCm39) |
M162K |
probably damaging |
Het |
| Nufip1 |
A |
G |
14: 76,348,413 (GRCm39) |
D14G |
probably benign |
Het |
| Or2l13 |
T |
A |
16: 19,306,227 (GRCm39) |
I213N |
probably damaging |
Het |
| Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
| Or7g28 |
T |
G |
9: 19,272,274 (GRCm39) |
I126L |
probably damaging |
Het |
| Osmr |
A |
C |
15: 6,850,560 (GRCm39) |
V681G |
probably damaging |
Het |
| Paxip1 |
G |
T |
5: 27,971,282 (GRCm39) |
Q356K |
unknown |
Het |
| Pcdhac1 |
T |
A |
18: 37,223,595 (GRCm39) |
F136Y |
probably damaging |
Het |
| Pla2g6 |
A |
G |
15: 79,171,328 (GRCm39) |
V699A |
probably benign |
Het |
| Plcb3 |
A |
T |
19: 6,943,578 (GRCm39) |
V107E |
probably damaging |
Het |
| Plpp3 |
A |
T |
4: 105,052,077 (GRCm39) |
I73F |
probably damaging |
Het |
| Plscr5 |
G |
A |
9: 92,080,574 (GRCm39) |
R20Q |
probably benign |
Het |
| Prdm10 |
G |
A |
9: 31,252,779 (GRCm39) |
R504Q |
probably damaging |
Het |
| Prss58 |
T |
C |
6: 40,874,751 (GRCm39) |
Y30C |
probably damaging |
Het |
| Psg19 |
T |
A |
7: 18,530,894 (GRCm39) |
T87S |
probably benign |
Het |
| Ptpn22 |
T |
G |
3: 103,789,418 (GRCm39) |
M294R |
probably benign |
Het |
| Rai1 |
T |
A |
11: 60,079,482 (GRCm39) |
M1182K |
probably benign |
Het |
| Sez6 |
T |
A |
11: 77,867,388 (GRCm39) |
V795D |
possibly damaging |
Het |
| Shcbp1 |
A |
G |
8: 4,789,214 (GRCm39) |
V535A |
possibly damaging |
Het |
| Skint9 |
A |
G |
4: 112,246,447 (GRCm39) |
Y222H |
probably benign |
Het |
| Slc13a3 |
T |
A |
2: 165,253,816 (GRCm39) |
I446F |
probably damaging |
Het |
| Slc2a3 |
C |
T |
6: 122,714,196 (GRCm39) |
R57H |
probably damaging |
Het |
| Slc44a4 |
A |
G |
17: 35,140,219 (GRCm39) |
D208G |
probably benign |
Het |
| Spata31d1b |
A |
T |
13: 59,863,838 (GRCm39) |
N329Y |
possibly damaging |
Het |
| Strbp |
C |
T |
2: 37,517,499 (GRCm39) |
R192K |
probably damaging |
Het |
| Tctn3 |
A |
T |
19: 40,600,548 (GRCm39) |
L14Q |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 36,834,989 (GRCm39) |
D2V |
probably damaging |
Het |
| Tln2 |
T |
G |
9: 67,241,596 (GRCm39) |
K1003T |
probably benign |
Het |
| Tmem63b |
T |
C |
17: 45,971,800 (GRCm39) |
E805G |
probably damaging |
Het |
| Trhr |
A |
T |
15: 44,060,980 (GRCm39) |
N167Y |
probably damaging |
Het |
| Trpc2 |
A |
G |
7: 101,744,390 (GRCm39) |
R721G |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,701,267 (GRCm39) |
|
probably benign |
Het |
| Wdr91 |
A |
G |
6: 34,869,288 (GRCm39) |
I412T |
probably damaging |
Het |
| Zcchc4 |
T |
A |
5: 52,953,952 (GRCm39) |
S211T |
probably benign |
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 |
|
R1955:Plch1
|
UTSW |
3 |
63,662,688 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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'- TCCCTTGATGAGACATAATGCC -3'
(R):5'- GGTCTCCTCAAAAGCATGCC -3'
Sequencing Primer
(F):5'- GATGAGACATAATGCCTCTCTTTATC -3'
(R):5'- CCTCAAAAGCATGCCTTCTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation