Incidental Mutation 'R6418:Ppp1r13l'
ID 518070
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 044560-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.696) question?
Stock # R6418 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 19093674-19112458 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 19105256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 343 (R343C)
Ref Sequence ENSEMBL: ENSMUSP00000047839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047621] [ENSMUST00000127785] [ENSMUST00000132655] [ENSMUST00000140836]
AlphaFold Q5I1X5
Predicted Effect probably damaging
Transcript: ENSMUST00000047621
AA Change: R343C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047839
Gene: ENSMUSG00000040734
AA Change: R343C

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
coiled coil region 25 49 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132655
SMART Domains Protein: ENSMUSP00000118309
Gene: ENSMUSG00000040734

DomainStartEndE-ValueType
coiled coil region 25 49 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140836
SMART Domains Protein: ENSMUSP00000114443
Gene: ENSMUSG00000040734

DomainStartEndE-ValueType
coiled coil region 25 49 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.8%
Validation Efficiency 99% (67/68)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930507D05Rik C T 10: 62,285,441 (GRCm39) A55V unknown Het
Adra1b T G 11: 43,667,028 (GRCm39) D403A probably benign Het
Ankdd1b A T 13: 96,597,405 (GRCm39) L9Q probably damaging Het
Ankrd17 A T 5: 90,426,204 (GRCm39) S789R possibly damaging Het
B3galnt1 A G 3: 69,482,326 (GRCm39) S312P probably damaging Het
C4bp C T 1: 130,583,750 (GRCm39) V73M probably damaging Het
Ccdc121rt2 T C 5: 112,598,019 (GRCm39) S189P probably benign Het
Cenpe T A 3: 134,957,305 (GRCm39) N1854K probably damaging Het
Chrm2 A C 6: 36,500,674 (GRCm39) Y177S probably damaging Het
Clca4b C T 3: 144,633,996 (GRCm39) V140I probably benign Het
Csad A G 15: 102,087,958 (GRCm39) S322P probably damaging Het
Depdc1b T G 13: 108,493,956 (GRCm39) Y115D probably damaging Het
Dnah17 T C 11: 118,020,023 (GRCm39) Y8C probably damaging Het
Dsg3 T C 18: 20,656,817 (GRCm39) probably null Het
Elf5 A G 2: 103,269,697 (GRCm39) T93A possibly damaging Het
Eogt C T 6: 97,122,353 (GRCm39) D27N possibly damaging Het
Fam118b T C 9: 35,146,633 (GRCm39) D78G probably damaging Het
Fhip2a T A 19: 57,370,166 (GRCm39) M470K probably benign Het
Frem3 A G 8: 81,337,781 (GRCm39) T25A probably benign Het
Gab1 C A 8: 81,515,226 (GRCm39) R364L possibly damaging Het
Golm1 T C 13: 59,813,375 (GRCm39) Y32C probably damaging Het
Has1 A T 17: 18,070,207 (GRCm39) V238E probably damaging Het
Hkdc1 T C 10: 62,219,583 (GRCm39) R907G possibly damaging Het
Igkv4-61 C A 6: 69,394,138 (GRCm39) A31S possibly damaging Het
Krtap24-1 C T 16: 88,408,761 (GRCm39) V122I probably damaging Het
Lrrc10 T G 10: 116,881,616 (GRCm39) L97V probably damaging Het
Map3k20 T A 2: 72,232,457 (GRCm39) M371K probably benign Het
Mis18bp1 A T 12: 65,205,317 (GRCm39) M2K possibly damaging Het
Mob3b T A 4: 34,954,049 (GRCm39) probably null Het
Muc4 A G 16: 32,570,607 (GRCm39) T556A possibly damaging Het
Muc6 A C 7: 141,224,032 (GRCm39) probably benign Het
Ncapg A T 5: 45,839,158 (GRCm39) L519F probably damaging Het
Nfix A G 8: 85,453,778 (GRCm39) S265P probably benign Het
Or13p10 T A 4: 118,522,808 (GRCm39) F31L possibly damaging Het
Or4c121 T C 2: 89,023,823 (GRCm39) K185R probably damaging Het
Or4k49 T C 2: 111,494,817 (GRCm39) V82A probably benign Het
Or52e5 T C 7: 104,719,514 (GRCm39) L280P probably damaging Het
Or8g35 C A 9: 39,381,112 (GRCm39) K303N probably benign Het
Osgin2 T C 4: 16,006,410 (GRCm39) T95A probably benign Het
Parp4 T C 14: 56,858,108 (GRCm39) probably null Het
Pcdh7 G A 5: 57,879,046 (GRCm39) G867D probably damaging Het
Pcdhb22 T C 18: 37,652,959 (GRCm39) S476P possibly damaging Het
Phldb1 A G 9: 44,623,197 (GRCm39) I619T probably damaging Het
Rab2b T A 14: 52,506,164 (GRCm39) probably benign Het
Rims2 A T 15: 39,373,092 (GRCm39) E972V probably damaging Het
Slc26a9 G T 1: 131,686,228 (GRCm39) C337F probably benign Het
Spty2d1 A G 7: 46,647,751 (GRCm39) S393P probably damaging Het
Stkld1 A T 2: 26,831,093 (GRCm39) N90I possibly damaging Het
Svep1 T A 4: 58,053,126 (GRCm39) R3406S probably benign Het
Svil A T 18: 5,040,171 (GRCm39) D48V probably benign Het
Thsd7a T A 6: 12,555,081 (GRCm39) K268* probably null Het
Tmc6 A G 11: 117,661,326 (GRCm39) L618P probably damaging Het
Tmem231 G A 8: 112,653,524 (GRCm39) probably benign Het
Ube2q2l C A 6: 136,378,099 (GRCm39) D244Y probably damaging Het
Ubn1 A G 16: 4,899,791 (GRCm39) H1101R probably benign Het
Upf2 G A 2: 6,032,150 (GRCm39) V899I unknown Het
Ush2a A T 1: 188,360,763 (GRCm39) N2161I probably damaging Het
Usp25 A T 16: 76,859,330 (GRCm39) D276V probably damaging Het
Vmn2r68 T A 7: 84,882,915 (GRCm39) H279L probably benign Het
Vps13d G A 4: 144,818,850 (GRCm39) R3019W probably damaging Het
Vsig10 A T 5: 117,486,361 (GRCm39) E423D probably benign Het
Wdfy2 T A 14: 63,162,582 (GRCm39) F95I probably benign Het
Xrn1 A G 9: 95,915,763 (GRCm39) probably null Het
Zdhhc13 A G 7: 48,461,149 (GRCm39) T362A possibly damaging Het
Zfp984 C T 4: 147,845,703 (GRCm39) S2N probably benign Het
Other mutations in Ppp1r13l
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R8853:Ppp1r13l UTSW 7 19,103,893 (GRCm39) missense probably benign 0.00
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'- GGAGCCTCAAGGTGTGGATAC -3'
(R):5'- CTGGGGAGGCAGCTTAGGT -3'

Sequencing Primer
(F):5'- AGCCTCAAGGTGTGGATACTCTTC -3'
(R):5'- CAGCTTAGGTGGGGGTGCTC -3'
Posted On 2018-05-24