Incidental Mutation 'R7853:Plch1'
ID |
607043 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plch1
|
Ensembl Gene |
ENSMUSG00000036834 |
Gene Name |
phospholipase C, eta 1 |
Synonyms |
Plcl3, PLCeta1 |
MMRRC Submission |
045906-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.198)
|
Stock # |
R7853 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
63603655-63806893 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 63681068 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 186
(M186I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081122
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048134]
[ENSMUST00000059973]
[ENSMUST00000084105]
[ENSMUST00000159676]
[ENSMUST00000160638]
[ENSMUST00000162269]
[ENSMUST00000175947]
[ENSMUST00000177143]
|
AlphaFold |
Q4KWH5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048134
AA Change: M168I
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000047693 Gene: ENSMUSG00000036834 AA Change: M168I
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 benign
Transcript: ENSMUST00000059973
AA Change: M186I
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000058524 Gene: ENSMUSG00000036834 AA Change: M186I
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 benign
Transcript: ENSMUST00000084105
AA Change: M186I
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000081122 Gene: ENSMUSG00000036834 AA Change: M186I
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 |
possibly damaging
Transcript: ENSMUST00000159676
AA Change: M186I
PolyPhen 2
Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000124632 Gene: ENSMUSG00000036834 AA Change: M186I
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: M186I
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000123921 Gene: ENSMUSG00000036834 AA Change: M186I
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 benign
Transcript: ENSMUST00000162269
AA Change: M186I
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000124463 Gene: ENSMUSG00000036834 AA Change: M186I
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 |
|
SMART Domains |
Protein: ENSMUSP00000135353 Gene: ENSMUSG00000036834 AA Change: M186I
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: M198I
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000135424 Gene: ENSMUSG00000036834 AA Change: M198I
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
A |
G |
2: 151,315,600 (GRCm39) |
I26T |
probably damaging |
Het |
Aadacl4 |
G |
T |
4: 144,344,592 (GRCm39) |
A123S |
probably benign |
Het |
Adamts20 |
A |
C |
15: 94,243,871 (GRCm39) |
C619G |
probably damaging |
Het |
Ahcyl1 |
C |
A |
3: 107,575,604 (GRCm39) |
V394L |
probably benign |
Het |
Ankrd17 |
A |
C |
5: 90,386,825 (GRCm39) |
L2378V |
possibly damaging |
Het |
B3gnt3 |
T |
C |
8: 72,145,357 (GRCm39) |
Y337C |
probably damaging |
Het |
Bcl10 |
A |
G |
3: 145,630,266 (GRCm39) |
K18R |
possibly damaging |
Het |
Calcr |
G |
A |
6: 3,707,499 (GRCm39) |
A267V |
probably benign |
Het |
Ces1d |
C |
T |
8: 93,901,695 (GRCm39) |
G425S |
probably benign |
Het |
Col1a1 |
G |
T |
11: 94,838,505 (GRCm39) |
R899L |
unknown |
Het |
Commd1 |
C |
T |
11: 22,906,532 (GRCm39) |
R168H |
possibly damaging |
Het |
Cps1 |
T |
C |
1: 67,213,640 (GRCm39) |
S791P |
possibly damaging |
Het |
Ctsj |
T |
A |
13: 61,151,884 (GRCm39) |
I58F |
probably damaging |
Het |
Cyp2j5 |
T |
A |
4: 96,529,656 (GRCm39) |
K238N |
probably benign |
Het |
Dlgap4 |
A |
G |
2: 156,547,802 (GRCm39) |
D423G |
probably benign |
Het |
Eef1ece2 |
T |
A |
16: 20,463,010 (GRCm39) |
|
probably null |
Het |
Egln1 |
T |
C |
8: 125,675,256 (GRCm39) |
N180D |
probably benign |
Het |
Ehd1 |
T |
C |
19: 6,327,225 (GRCm39) |
F74S |
probably damaging |
Het |
Ext1 |
G |
A |
15: 52,970,881 (GRCm39) |
A350V |
probably damaging |
Het |
Fam186b |
T |
A |
15: 99,178,628 (GRCm39) |
I233F |
probably damaging |
Het |
Fam193a |
T |
G |
5: 34,597,473 (GRCm39) |
N91K |
probably benign |
Het |
Far1 |
T |
A |
7: 113,153,355 (GRCm39) |
N329K |
probably damaging |
Het |
Fhad1 |
A |
G |
4: 141,637,134 (GRCm39) |
S1111P |
probably damaging |
Het |
Fhl2 |
A |
G |
1: 43,180,984 (GRCm39) |
S69P |
probably damaging |
Het |
Flg2 |
C |
A |
3: 93,128,054 (GRCm39) |
P2322Q |
unknown |
Het |
Flvcr1 |
A |
G |
1: 190,757,843 (GRCm39) |
Y108H |
probably damaging |
Het |
Fos |
T |
A |
12: 85,522,792 (GRCm39) |
S235T |
probably benign |
Het |
Foxf1 |
T |
A |
8: 121,811,438 (GRCm39) |
S101T |
probably damaging |
Het |
Gfer |
C |
A |
17: 24,913,259 (GRCm39) |
D198Y |
probably damaging |
Het |
Ggps1 |
T |
C |
13: 14,229,034 (GRCm39) |
I50V |
probably benign |
Het |
Gkn2 |
A |
G |
6: 87,355,255 (GRCm39) |
T155A |
probably benign |
Het |
Gna12 |
C |
T |
5: 140,746,449 (GRCm39) |
C332Y |
probably damaging |
Het |
Hc |
T |
A |
2: 34,900,045 (GRCm39) |
Y1096F |
probably damaging |
Het |
Hoxa3 |
G |
A |
6: 52,147,267 (GRCm39) |
|
probably benign |
Het |
Hsd17b8 |
T |
G |
17: 34,246,411 (GRCm39) |
D117A |
probably benign |
Het |
Ifi206 |
A |
T |
1: 173,299,100 (GRCm39) |
Y835* |
probably null |
Het |
Ighv13-2 |
T |
G |
12: 114,321,544 (GRCm39) |
E65A |
probably damaging |
Het |
Kif5a |
A |
T |
10: 127,071,537 (GRCm39) |
Y770* |
probably null |
Het |
Lfng |
A |
G |
5: 140,593,384 (GRCm39) |
S72G |
probably benign |
Het |
Lipo2 |
C |
T |
19: 33,737,344 (GRCm39) |
|
probably benign |
Het |
Lnpep |
C |
T |
17: 17,783,109 (GRCm39) |
S564N |
probably benign |
Het |
Mfhas1 |
T |
A |
8: 36,057,025 (GRCm39) |
L500* |
probably null |
Het |
Mllt6 |
G |
A |
11: 97,561,142 (GRCm39) |
V277I |
probably benign |
Het |
Mroh5 |
C |
T |
15: 73,663,189 (GRCm39) |
D192N |
probably benign |
Het |
Myo1f |
T |
A |
17: 33,795,672 (GRCm39) |
V106D |
probably damaging |
Het |
Mypn |
T |
A |
10: 62,981,652 (GRCm39) |
I643F |
probably benign |
Het |
Nup188 |
A |
G |
2: 30,213,575 (GRCm39) |
N669D |
possibly damaging |
Het |
Or14j5 |
C |
G |
17: 38,161,714 (GRCm39) |
T77R |
probably damaging |
Het |
Or2r11 |
A |
T |
6: 42,437,573 (GRCm39) |
C127S |
probably damaging |
Het |
Or5g26 |
T |
C |
2: 85,494,689 (GRCm39) |
T30A |
probably benign |
Het |
Or8s8 |
T |
C |
15: 98,354,866 (GRCm39) |
V225A |
probably benign |
Het |
Osbpl10 |
A |
G |
9: 115,036,726 (GRCm39) |
T241A |
probably damaging |
Het |
Peg3 |
C |
T |
7: 6,711,839 (GRCm39) |
E1128K |
possibly damaging |
Het |
Pon3 |
A |
C |
6: 5,236,911 (GRCm39) |
L152R |
probably damaging |
Het |
Prr36 |
G |
A |
8: 4,263,905 (GRCm39) |
P587L |
unknown |
Het |
Psma2 |
T |
A |
13: 14,799,832 (GRCm39) |
I192N |
probably damaging |
Het |
Rbm11 |
T |
C |
16: 75,389,923 (GRCm39) |
F30L |
probably damaging |
Het |
Rpap3 |
G |
A |
15: 97,576,299 (GRCm39) |
A622V |
possibly damaging |
Het |
Scgb2b11 |
T |
A |
7: 31,908,807 (GRCm39) |
N98Y |
probably damaging |
Het |
Siglec1 |
A |
G |
2: 130,923,212 (GRCm39) |
L511P |
probably damaging |
Het |
Sirpb1c |
C |
T |
3: 15,887,156 (GRCm39) |
V228M |
probably damaging |
Het |
Smpd4 |
T |
A |
16: 17,460,605 (GRCm39) |
Y804N |
probably damaging |
Het |
Sult6b2 |
T |
C |
6: 142,747,524 (GRCm39) |
D75G |
not run |
Het |
Sycp3 |
A |
C |
10: 88,302,368 (GRCm39) |
K119N |
probably damaging |
Het |
Syne2 |
T |
C |
12: 76,078,278 (GRCm39) |
L4703P |
probably damaging |
Het |
Tex12 |
C |
G |
9: 50,470,523 (GRCm39) |
L20F |
possibly damaging |
Het |
Them5 |
T |
A |
3: 94,250,603 (GRCm39) |
Y55* |
probably null |
Het |
Tmem43 |
A |
T |
6: 91,458,968 (GRCm39) |
D213V |
probably benign |
Het |
Tnfrsf10b |
A |
C |
14: 70,005,239 (GRCm39) |
Q44P |
unknown |
Het |
Trbv2 |
A |
T |
6: 41,024,836 (GRCm39) |
Q84L |
probably benign |
Het |
Trim2 |
C |
T |
3: 84,212,537 (GRCm39) |
|
probably benign |
Het |
Trim36 |
A |
G |
18: 46,305,558 (GRCm39) |
V475A |
probably benign |
Het |
Ttbk1 |
C |
A |
17: 46,758,269 (GRCm39) |
E788D |
probably benign |
Het |
Ttn |
T |
C |
2: 76,543,626 (GRCm39) |
D33120G |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,576,256 (GRCm39) |
N24879I |
probably damaging |
Het |
Ube4a |
T |
A |
9: 44,864,308 (GRCm39) |
Q76L |
probably benign |
Het |
Vmn2r27 |
T |
A |
6: 124,168,980 (GRCm39) |
I717F |
probably damaging |
Het |
Vmn2r45 |
T |
C |
7: 8,485,987 (GRCm39) |
K434E |
possibly damaging |
Het |
Vta1 |
T |
C |
10: 14,531,461 (GRCm39) |
T305A |
probably damaging |
Het |
Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
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 |
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 |
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'- CAGCATAGTATTCGAGGGGATG -3'
(R):5'- TTTCCACATCGCTGGCAGTG -3'
Sequencing Primer
(F):5'- GATGAAACCGGGTACTTAAGTTTATG -3'
(R):5'- GTCCATGTGACATTCAACAAGTGAG -3'
|
Posted On |
2019-12-20 |