Incidental Mutation 'R8853:Ppp1r13l'
| ID |
675112 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r13l
|
| Ensembl Gene |
ENSMUSG00000040734 |
| Gene Name |
protein phosphatase 1, regulatory subunit 13 like |
| Synonyms |
NFkB interacting protein 1, IASPP, wa3 |
| MMRRC Submission |
068675-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.669)
|
| Stock # |
R8853 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
19093674-19112458 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 19103893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 125
(I125V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047621]
[ENSMUST00000127785]
[ENSMUST00000132655]
[ENSMUST00000140836]
|
| AlphaFold |
Q5I1X5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047621
AA Change: I125V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000047839
Gene: ENSMUSG00000040734
AA Change: I125V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
25 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
401 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
472 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
561 |
N/A |
INTRINSIC |
|
low complexity region
|
575 |
600 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
632 |
N/A |
INTRINSIC |
|
ANK
|
655 |
684 |
2.25e-3 |
SMART |
|
ANK
|
688 |
717 |
1.31e-4 |
SMART |
|
SH3
|
757 |
815 |
4.66e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127785
|
| SMART Domains |
Protein: ENSMUSP00000116351
Gene: ENSMUSG00000040734
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
25 |
49 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132655
|
| SMART Domains |
Protein: ENSMUSP00000118309
Gene: ENSMUSG00000040734
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
25 |
49 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140836
|
| SMART Domains |
Protein: ENSMUSP00000114443
Gene: ENSMUSG00000040734
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
25 |
49 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (56/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IASPP is one of the most evolutionarily conserved inhibitors of p53 (TP53; MIM 191170), whereas ASPP1 (MIM 606455) and ASPP2 (MIM 602143) are activators of p53.[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygotes for spontaneous mutations in this gene exhibit cardiovascular defects leading to cardiomyopathy, open eyelids at birth, and coat abnormalities. One allele also shows postnatal lethality dependent on strain background and decreased weight, while another shows impaired fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1 |
A |
T |
6: 48,882,994 (GRCm39) |
Y290F |
probably benign |
Het |
| Ap5m1 |
T |
A |
14: 49,311,337 (GRCm39) |
L136M |
possibly damaging |
Het |
| Arpp21 |
T |
G |
9: 111,976,516 (GRCm39) |
T322P |
probably damaging |
Het |
| Atp6v1c2 |
C |
T |
12: 17,351,148 (GRCm39) |
V128M |
possibly damaging |
Het |
| C4b |
A |
G |
17: 34,948,879 (GRCm39) |
V1523A |
possibly damaging |
Het |
| Copg2 |
G |
C |
6: 30,803,115 (GRCm39) |
L277V |
probably benign |
Het |
| Cyp2b19 |
A |
G |
7: 26,456,645 (GRCm39) |
T12A |
possibly damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,787,024 (GRCm39) |
C115S |
probably damaging |
Het |
| Defb35 |
G |
A |
8: 22,430,806 (GRCm39) |
R60Q |
unknown |
Het |
| Dlgap3 |
T |
A |
4: 127,088,810 (GRCm39) |
D135E |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,117,645 (GRCm39) |
W2215R |
possibly damaging |
Het |
| Eea1 |
G |
C |
10: 95,857,517 (GRCm39) |
A660P |
|
Het |
| Egfr |
A |
G |
11: 16,858,885 (GRCm39) |
I955V |
possibly damaging |
Het |
| Eif3b |
G |
A |
5: 140,425,774 (GRCm39) |
V655M |
probably damaging |
Het |
| Elp3 |
T |
A |
14: 65,815,390 (GRCm39) |
I220F |
probably benign |
Het |
| Ern2 |
A |
G |
7: 121,772,967 (GRCm39) |
V550A |
probably damaging |
Het |
| Evc |
G |
A |
5: 37,460,647 (GRCm39) |
S857L |
possibly damaging |
Het |
| Glt28d2 |
T |
A |
3: 85,779,087 (GRCm39) |
M129L |
probably benign |
Het |
| Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,269 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,547,726 (GRCm39) |
Y2742N |
probably damaging |
Het |
| Klhl6 |
T |
A |
16: 19,765,979 (GRCm39) |
Q541L |
possibly damaging |
Het |
| Myh14 |
G |
A |
7: 44,265,678 (GRCm39) |
T1559I |
probably benign |
Het |
| Myo7b |
A |
G |
18: 32,119,744 (GRCm39) |
F783L |
possibly damaging |
Het |
| Myrip |
C |
T |
9: 120,290,487 (GRCm39) |
A702V |
probably damaging |
Het |
| Ndnf |
C |
A |
6: 65,680,161 (GRCm39) |
Q147K |
probably benign |
Het |
| Necab2 |
C |
G |
8: 120,189,339 (GRCm39) |
R170G |
possibly damaging |
Het |
| Nfatc4 |
T |
C |
14: 56,063,690 (GRCm39) |
I59T |
probably damaging |
Het |
| Nfix |
A |
G |
8: 85,454,276 (GRCm39) |
S211P |
probably damaging |
Het |
| Nlrp5 |
A |
T |
7: 23,117,725 (GRCm39) |
Q483L |
possibly damaging |
Het |
| Or6k14 |
T |
C |
1: 173,927,861 (GRCm39) |
V279A |
probably damaging |
Het |
| Pde4a |
A |
G |
9: 21,106,119 (GRCm39) |
T245A |
possibly damaging |
Het |
| Peli2 |
C |
T |
14: 48,493,945 (GRCm39) |
T389M |
probably damaging |
Het |
| Pfas |
T |
C |
11: 68,883,744 (GRCm39) |
K638E |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,143,679 (GRCm39) |
|
probably null |
Het |
| Plch1 |
T |
C |
3: 63,688,967 (GRCm39) |
D67G |
probably damaging |
Het |
| Plcl2 |
A |
T |
17: 50,913,884 (GRCm39) |
R298* |
probably null |
Het |
| Ppp2r3d |
A |
G |
9: 101,090,110 (GRCm39) |
V71A |
probably benign |
Het |
| Pvr |
A |
G |
7: 19,650,897 (GRCm39) |
V209A |
possibly damaging |
Het |
| Rap1gap2 |
A |
G |
11: 74,298,198 (GRCm39) |
L414P |
probably damaging |
Het |
| Rasgrp2 |
A |
G |
19: 6,464,855 (GRCm39) |
D601G |
probably damaging |
Het |
| Reck |
T |
A |
4: 43,912,089 (GRCm39) |
N199K |
probably benign |
Het |
| Rin2 |
G |
T |
2: 145,718,475 (GRCm39) |
A652S |
possibly damaging |
Het |
| Rnf34 |
T |
C |
5: 123,002,087 (GRCm39) |
L88P |
possibly damaging |
Het |
| Serpina3m |
A |
G |
12: 104,355,914 (GRCm39) |
I194V |
probably benign |
Het |
| Spred3 |
A |
G |
7: 28,861,415 (GRCm39) |
S255P |
probably benign |
Het |
| Sult2a7 |
A |
G |
7: 14,225,641 (GRCm39) |
|
probably null |
Het |
| Synpo2l |
C |
A |
14: 20,711,442 (GRCm39) |
G622C |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,795,382 (GRCm39) |
C582R |
probably damaging |
Het |
| Tex261 |
A |
T |
6: 83,750,727 (GRCm39) |
I90N |
probably damaging |
Het |
| Trappc11 |
A |
G |
8: 47,982,439 (GRCm39) |
F100S |
probably damaging |
Het |
| Trhde |
G |
A |
10: 114,636,830 (GRCm39) |
P126S |
probably benign |
Het |
| Vmn2r53 |
A |
T |
7: 12,315,737 (GRCm39) |
V694E |
probably damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,349,782 (GRCm39) |
L600Q |
probably damaging |
Het |
| Vwf |
G |
A |
6: 125,634,227 (GRCm39) |
C2174Y |
|
Het |
| Wee2 |
A |
G |
6: 40,441,200 (GRCm39) |
T502A |
probably benign |
Het |
| Zfp112 |
A |
T |
7: 23,823,390 (GRCm39) |
|
silent |
Het |
| Zfp40 |
T |
A |
17: 23,394,691 (GRCm39) |
H632L |
possibly damaging |
Het |
| Zmynd11 |
T |
C |
13: 9,740,965 (GRCm39) |
S378G |
probably damaging |
Het |
|
| Other mutations in Ppp1r13l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01473:Ppp1r13l
|
APN |
7 |
19,109,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01800:Ppp1r13l
|
APN |
7 |
19,111,936 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02714:Ppp1r13l
|
APN |
7 |
19,111,568 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03251:Ppp1r13l
|
APN |
7 |
19,102,794 (GRCm39) |
splice site |
probably benign |
|
|
R0507:Ppp1r13l
|
UTSW |
7 |
19,109,739 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1147:Ppp1r13l
|
UTSW |
7 |
19,109,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1147:Ppp1r13l
|
UTSW |
7 |
19,109,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1845:Ppp1r13l
|
UTSW |
7 |
19,102,536 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1885:Ppp1r13l
|
UTSW |
7 |
19,111,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1886:Ppp1r13l
|
UTSW |
7 |
19,111,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2118:Ppp1r13l
|
UTSW |
7 |
19,105,346 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4063:Ppp1r13l
|
UTSW |
7 |
19,103,978 (GRCm39) |
missense |
probably benign |
|
|
R4685:Ppp1r13l
|
UTSW |
7 |
19,109,308 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5121:Ppp1r13l
|
UTSW |
7 |
19,104,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5604:Ppp1r13l
|
UTSW |
7 |
19,109,524 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5669:Ppp1r13l
|
UTSW |
7 |
19,106,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5911:Ppp1r13l
|
UTSW |
7 |
19,109,817 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6002:Ppp1r13l
|
UTSW |
7 |
19,111,895 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6058:Ppp1r13l
|
UTSW |
7 |
19,104,500 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6170:Ppp1r13l
|
UTSW |
7 |
19,104,362 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6171:Ppp1r13l
|
UTSW |
7 |
19,111,436 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6246:Ppp1r13l
|
UTSW |
7 |
19,103,783 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6418:Ppp1r13l
|
UTSW |
7 |
19,105,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6845:Ppp1r13l
|
UTSW |
7 |
19,105,323 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7367:Ppp1r13l
|
UTSW |
7 |
19,104,081 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7381:Ppp1r13l
|
UTSW |
7 |
19,102,786 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7467:Ppp1r13l
|
UTSW |
7 |
19,105,305 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7510:Ppp1r13l
|
UTSW |
7 |
19,102,726 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8185:Ppp1r13l
|
UTSW |
7 |
19,106,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8678:Ppp1r13l
|
UTSW |
7 |
19,109,697 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8757:Ppp1r13l
|
UTSW |
7 |
19,103,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8759:Ppp1r13l
|
UTSW |
7 |
19,103,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8881:Ppp1r13l
|
UTSW |
7 |
19,105,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8994:Ppp1r13l
|
UTSW |
7 |
19,102,695 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9741:Ppp1r13l
|
UTSW |
7 |
19,103,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF015:Ppp1r13l
|
UTSW |
7 |
19,102,467 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF022:Ppp1r13l
|
UTSW |
7 |
19,102,467 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGCAAGTCATCAGGGTG -3'
(R):5'- GACTAGACCGACTGAACCAG -3'
Sequencing Primer
(F):5'- AAGTCATCAGGGTGATCCGATGTC -3'
(R):5'- AGCCTCCCAAAGAGAGGGTC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation