Incidental Mutation 'IGL02709:Ripk4'
ID 304480
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ripk4
Ensembl Gene ENSMUSG00000005251
Gene Name receptor-interacting serine-threonine kinase 4
Synonyms RIP4, ANKK2, Ankrd3, PKK, DIk
Accession Numbers
Essential gene? Probably non essential (E-score: 0.250) question?
Stock # IGL02709
Quality Score
Status
Chromosome 16
Chromosomal Location 97543133-97564979 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97544766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 627 (D627G)
Ref Sequence ENSEMBL: ENSMUSP00000019386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019386] [ENSMUST00000113743]
AlphaFold Q9ERK0
Predicted Effect probably damaging
Transcript: ENSMUST00000019386
AA Change: D627G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019386
Gene: ENSMUSG00000005251
AA Change: D627G

DomainStartEndE-ValueType
Pfam:Pkinase 22 283 1.8e-47 PFAM
Pfam:Pkinase_Tyr 23 283 6e-45 PFAM
low complexity region 356 396 N/A INTRINSIC
ANK 439 468 2.58e-3 SMART
ANK 472 501 3.41e-3 SMART
ANK 505 534 7.42e-4 SMART
ANK 538 567 3.57e-6 SMART
ANK 571 601 3.85e-2 SMART
ANK 605 634 3.15e-7 SMART
ANK 638 667 5.16e-3 SMART
ANK 671 700 2.2e-6 SMART
ANK 704 734 1.68e-2 SMART
ANK 736 765 3.46e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113743
AA Change: D564G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109372
Gene: ENSMUSG00000005251
AA Change: D564G

DomainStartEndE-ValueType
Pfam:Pkinase 1 220 1e-39 PFAM
Pfam:Pkinase_Tyr 1 220 7.4e-39 PFAM
low complexity region 293 333 N/A INTRINSIC
ANK 376 405 2.58e-3 SMART
ANK 409 438 3.41e-3 SMART
ANK 442 471 7.42e-4 SMART
ANK 475 504 3.57e-6 SMART
ANK 508 538 3.85e-2 SMART
ANK 542 571 3.15e-7 SMART
ANK 575 604 5.16e-3 SMART
ANK 608 637 2.2e-6 SMART
ANK 641 671 1.68e-2 SMART
ANK 673 702 3.46e-4 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine/threonine protein kinase that interacts with protein kinase C-delta. The encoded protein can also activate NFkappaB and is required for keratinocyte differentiation. This kinase undergoes autophosphorylation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene result in perinatal lethality and epithelial developmental defects. Homozygous mutant lack oral, anal, and nasal openings and display shorter hindlimbs and tail that are partially fused to the body. The skin is significantly thicker with areas of orthokeratosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A G 3: 59,654,619 (GRCm39) Y151C probably damaging Het
Aco1 G A 4: 40,180,199 (GRCm39) V367M possibly damaging Het
Acsm5 G A 7: 119,134,041 (GRCm39) W274* probably null Het
Ago1 G A 4: 126,347,433 (GRCm39) Q135* probably null Het
Bmpr1b A T 3: 141,562,314 (GRCm39) L291Q probably damaging Het
Cdcp1 A G 9: 123,002,879 (GRCm39) Y731H probably damaging Het
Clrn2 A G 5: 45,617,495 (GRCm39) N122S probably damaging Het
Col4a3 G T 1: 82,656,833 (GRCm39) G751W unknown Het
Ctsc C T 7: 87,957,347 (GRCm39) A294V probably damaging Het
Cyp26a1 T C 19: 37,688,426 (GRCm39) L316P probably damaging Het
Dennd6b A T 15: 89,075,125 (GRCm39) probably benign Het
Dnah10 T A 5: 124,850,809 (GRCm39) Y1659* probably null Het
Dspp A C 5: 104,325,116 (GRCm39) D493A unknown Het
Dyrk1a C T 16: 94,486,102 (GRCm39) A445V probably benign Het
E030025P04Rik C A 11: 109,030,324 (GRCm39) probably benign Het
Ecpas A G 4: 58,872,699 (GRCm39) S201P possibly damaging Het
Foxd4 T C 19: 24,876,973 (GRCm39) H409R probably damaging Het
Fubp3 A G 2: 31,485,343 (GRCm39) probably benign Het
Herc1 A G 9: 66,404,962 (GRCm39) K4511E probably damaging Het
Ifna1 A G 4: 88,768,523 (GRCm39) D67G probably benign Het
Map1lc3b T A 8: 122,322,768 (GRCm39) L82Q probably damaging Het
Mcc A T 18: 44,578,877 (GRCm39) S844T possibly damaging Het
Mccc1 A T 3: 36,044,888 (GRCm39) *85K probably null Het
Memo1 G A 17: 74,552,027 (GRCm39) L90F probably damaging Het
Mfrp A G 9: 44,014,561 (GRCm39) H236R probably benign Het
Mmrn1 G A 6: 60,950,030 (GRCm39) D327N probably damaging Het
Mycbp2 T C 14: 103,392,697 (GRCm39) E3178G probably damaging Het
Pcsk9 A G 4: 106,304,886 (GRCm39) probably benign Het
Pros1 T C 16: 62,719,308 (GRCm39) L110P probably damaging Het
Reck A G 4: 43,913,791 (GRCm39) Y215C probably damaging Het
Rnf144a G T 12: 26,371,009 (GRCm39) H151N probably damaging Het
Slc39a9 T A 12: 80,713,421 (GRCm39) H106Q probably damaging Het
Stab2 A G 10: 86,682,029 (GRCm39) probably benign Het
Sympk T G 7: 18,781,463 (GRCm39) H806Q probably benign Het
Tars2 C A 3: 95,649,383 (GRCm39) probably benign Het
Thap3 T A 4: 152,070,169 (GRCm39) H75L probably damaging Het
Trappc8 T C 18: 20,970,235 (GRCm39) I918M possibly damaging Het
Ube2j2 T C 4: 156,041,788 (GRCm39) V249A probably damaging Het
Ubqln3 T G 7: 103,790,543 (GRCm39) T516P probably benign Het
Unc13c A G 9: 73,466,238 (GRCm39) S1810P probably benign Het
Vmn1r4 T A 6: 56,933,524 (GRCm39) Y9* probably null Het
Vmn1r89 T A 7: 12,954,131 (GRCm39) M221K probably damaging Het
Vmn2r1 G T 3: 64,012,355 (GRCm39) V739F probably benign Het
Vmn2r25 C T 6: 123,816,723 (GRCm39) R286Q possibly damaging Het
Vmn2r91 T A 17: 18,325,711 (GRCm39) Y110N possibly damaging Het
Zbtb48 T C 4: 152,105,851 (GRCm39) H418R probably damaging Het
Other mutations in Ripk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Ripk4 APN 16 97,552,696 (GRCm39) nonsense probably null
IGL01823:Ripk4 APN 16 97,556,483 (GRCm39) missense possibly damaging 0.89
IGL01921:Ripk4 APN 16 97,544,565 (GRCm39) missense possibly damaging 0.62
IGL02023:Ripk4 APN 16 97,556,431 (GRCm39) missense probably damaging 1.00
IGL02201:Ripk4 APN 16 97,556,377 (GRCm39) missense possibly damaging 0.91
G1citation:Ripk4 UTSW 16 97,547,236 (GRCm39) missense probably damaging 1.00
I2288:Ripk4 UTSW 16 97,549,345 (GRCm39) missense probably benign 0.16
PIT4495001:Ripk4 UTSW 16 97,544,370 (GRCm39) missense probably damaging 0.99
R0060:Ripk4 UTSW 16 97,564,718 (GRCm39) splice site probably benign
R0112:Ripk4 UTSW 16 97,544,761 (GRCm39) missense probably benign 0.00
R0383:Ripk4 UTSW 16 97,549,312 (GRCm39) missense probably damaging 1.00
R0524:Ripk4 UTSW 16 97,556,487 (GRCm39) nonsense probably null
R0540:Ripk4 UTSW 16 97,545,375 (GRCm39) missense probably damaging 1.00
R0967:Ripk4 UTSW 16 97,545,372 (GRCm39) missense probably damaging 1.00
R1646:Ripk4 UTSW 16 97,545,097 (GRCm39) missense probably damaging 1.00
R1785:Ripk4 UTSW 16 97,551,331 (GRCm39) missense probably damaging 1.00
R2058:Ripk4 UTSW 16 97,545,342 (GRCm39) nonsense probably null
R2134:Ripk4 UTSW 16 97,544,933 (GRCm39) missense probably damaging 1.00
R2135:Ripk4 UTSW 16 97,544,933 (GRCm39) missense probably damaging 1.00
R3410:Ripk4 UTSW 16 97,545,157 (GRCm39) missense probably benign 0.00
R3411:Ripk4 UTSW 16 97,545,157 (GRCm39) missense probably benign 0.00
R4538:Ripk4 UTSW 16 97,544,352 (GRCm39) nonsense probably null
R4627:Ripk4 UTSW 16 97,545,226 (GRCm39) missense probably damaging 0.99
R4665:Ripk4 UTSW 16 97,556,273 (GRCm39) missense probably damaging 0.98
R4704:Ripk4 UTSW 16 97,547,204 (GRCm39) nonsense probably null
R4769:Ripk4 UTSW 16 97,545,262 (GRCm39) missense probably damaging 1.00
R4860:Ripk4 UTSW 16 97,552,736 (GRCm39) missense probably damaging 0.97
R4860:Ripk4 UTSW 16 97,552,736 (GRCm39) missense probably damaging 0.97
R5240:Ripk4 UTSW 16 97,544,967 (GRCm39) missense probably damaging 1.00
R5864:Ripk4 UTSW 16 97,564,782 (GRCm39) missense probably damaging 0.98
R6027:Ripk4 UTSW 16 97,545,274 (GRCm39) missense probably damaging 1.00
R6035:Ripk4 UTSW 16 97,545,387 (GRCm39) missense probably damaging 1.00
R6035:Ripk4 UTSW 16 97,545,387 (GRCm39) missense probably damaging 1.00
R6291:Ripk4 UTSW 16 97,556,323 (GRCm39) missense probably damaging 1.00
R6343:Ripk4 UTSW 16 97,564,726 (GRCm39) critical splice donor site probably benign
R6572:Ripk4 UTSW 16 97,547,105 (GRCm39) nonsense probably null
R6783:Ripk4 UTSW 16 97,549,237 (GRCm39) missense probably damaging 1.00
R6822:Ripk4 UTSW 16 97,547,236 (GRCm39) missense probably damaging 1.00
R7215:Ripk4 UTSW 16 97,548,523 (GRCm39) splice site probably null
R7251:Ripk4 UTSW 16 97,544,449 (GRCm39) missense probably benign
R7275:Ripk4 UTSW 16 97,545,157 (GRCm39) missense probably benign 0.00
R7356:Ripk4 UTSW 16 97,544,349 (GRCm39) missense probably damaging 0.98
R7621:Ripk4 UTSW 16 97,547,125 (GRCm39) missense probably damaging 1.00
R8065:Ripk4 UTSW 16 97,564,737 (GRCm39) missense probably damaging 0.97
R8067:Ripk4 UTSW 16 97,564,737 (GRCm39) missense probably damaging 0.97
R8191:Ripk4 UTSW 16 97,564,726 (GRCm39) critical splice donor site probably benign
R8742:Ripk4 UTSW 16 97,556,272 (GRCm39) missense probably damaging 1.00
R8968:Ripk4 UTSW 16 97,547,203 (GRCm39) missense probably benign 0.38
R9209:Ripk4 UTSW 16 97,551,311 (GRCm39) missense possibly damaging 0.74
R9513:Ripk4 UTSW 16 97,547,098 (GRCm39) nonsense probably null
R9784:Ripk4 UTSW 16 97,549,306 (GRCm39) missense possibly damaging 0.46
Z1176:Ripk4 UTSW 16 97,551,302 (GRCm39) missense probably damaging 1.00
Z1177:Ripk4 UTSW 16 97,556,378 (GRCm39) missense probably benign 0.04
Posted On 2015-04-16