Incidental Mutation 'IGL01921:Ripk4'
ID180090
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ripk4
Ensembl Gene ENSMUSG00000005251
Gene Namereceptor-interacting serine-threonine kinase 4
SynonymsAnkrd3, DIk, PKK, ANKK2, RIP4
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.322) question?
Stock #IGL01921
Quality Score
Status
Chromosome16
Chromosomal Location97741933-97763787 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 97743365 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 694 (E694G)
Ref Sequence ENSEMBL: ENSMUSP00000019386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019386] [ENSMUST00000113743]
Predicted Effect possibly damaging
Transcript: ENSMUST00000019386
AA Change: E694G

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000019386
Gene: ENSMUSG00000005251
AA Change: E694G

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 possibly damaging
Transcript: ENSMUST00000113743
AA Change: E631G

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109372
Gene: ENSMUSG00000005251
AA Change: E631G

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 T C 13: 59,512,483 T310A possibly damaging Het
Ccdc102a T C 8: 94,913,391 T92A probably damaging Het
Cd163l1 G T 7: 140,228,719 E848* probably null Het
Ciao1 C T 2: 127,242,835 V328I probably benign Het
Col12a1 T A 9: 79,650,017 Q1943L possibly damaging Het
Diaph1 T C 18: 37,856,208 D898G possibly damaging Het
Dio3 A T 12: 110,279,355 T42S possibly damaging Het
Dnah8 T A 17: 30,736,141 I2048N probably benign Het
Egr2 T A 10: 67,540,378 probably null Het
Epc2 T A 2: 49,532,197 Y368N probably damaging Het
Furin A G 7: 80,395,954 probably benign Het
Gga1 T C 15: 78,893,795 M620T possibly damaging Het
Gm21976 T A 13: 98,305,321 Y45* probably null Het
Gm5346 C A 8: 43,625,511 V559L probably damaging Het
Gpn1 T C 5: 31,499,268 V105A probably damaging Het
Hoxb8 A T 11: 96,284,355 N206I probably damaging Het
Kif15 T A 9: 122,979,504 L67Q probably damaging Het
Krt40 T A 11: 99,543,163 probably benign Het
Mat1a T C 14: 41,114,335 probably benign Het
Mkrn1 T C 6: 39,405,913 D99G possibly damaging Het
Plxnb2 T C 15: 89,164,271 Y645C possibly damaging Het
Ppp1r13b A G 12: 111,833,237 V702A probably benign Het
Ppp4r4 G T 12: 103,576,310 M1I probably null Het
Prss21 T A 17: 23,872,440 M217K possibly damaging Het
R3hcc1l A G 19: 42,563,781 S406G possibly damaging Het
Rfesd T C 13: 76,008,266 E7G probably benign Het
Rlf T C 4: 121,146,746 D1679G probably damaging Het
Ryr2 C T 13: 11,554,550 C4956Y possibly damaging Het
Uri1 T A 7: 37,981,647 K111* probably null Het
Usf1 A G 1: 171,416,856 E108G possibly damaging Het
Vmn1r71 C A 7: 10,748,272 R163L probably benign Het
Vmn2r86 T C 10: 130,455,741 T52A probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Washc5 A T 15: 59,342,109 probably null Het
Zfp583 T C 7: 6,325,570 T7A possibly damaging Het
Zim1 T G 7: 6,682,185 probably benign Het
Other mutations in Ripk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Ripk4 APN 16 97751496 nonsense probably null
IGL01823:Ripk4 APN 16 97755283 missense possibly damaging 0.89
IGL02023:Ripk4 APN 16 97755231 missense probably damaging 1.00
IGL02201:Ripk4 APN 16 97755177 missense possibly damaging 0.91
IGL02709:Ripk4 APN 16 97743566 missense probably damaging 1.00
I2288:Ripk4 UTSW 16 97748145 missense probably benign 0.16
PIT4495001:Ripk4 UTSW 16 97743170 missense probably damaging 0.99
R0060:Ripk4 UTSW 16 97763518 splice site probably benign
R0112:Ripk4 UTSW 16 97743561 missense probably benign 0.00
R0383:Ripk4 UTSW 16 97748112 missense probably damaging 1.00
R0524:Ripk4 UTSW 16 97755287 nonsense probably null
R0540:Ripk4 UTSW 16 97744175 missense probably damaging 1.00
R0967:Ripk4 UTSW 16 97744172 missense probably damaging 1.00
R1646:Ripk4 UTSW 16 97743897 missense probably damaging 1.00
R1785:Ripk4 UTSW 16 97750131 missense probably damaging 1.00
R2058:Ripk4 UTSW 16 97744142 nonsense probably null
R2134:Ripk4 UTSW 16 97743733 missense probably damaging 1.00
R2135:Ripk4 UTSW 16 97743733 missense probably damaging 1.00
R3410:Ripk4 UTSW 16 97743957 missense probably benign 0.00
R3411:Ripk4 UTSW 16 97743957 missense probably benign 0.00
R4538:Ripk4 UTSW 16 97743152 nonsense probably null
R4627:Ripk4 UTSW 16 97744026 missense probably damaging 0.99
R4665:Ripk4 UTSW 16 97755073 missense probably damaging 0.98
R4704:Ripk4 UTSW 16 97746004 nonsense probably null
R4769:Ripk4 UTSW 16 97744062 missense probably damaging 1.00
R4860:Ripk4 UTSW 16 97751536 missense probably damaging 0.97
R4860:Ripk4 UTSW 16 97751536 missense probably damaging 0.97
R5240:Ripk4 UTSW 16 97743767 missense probably damaging 1.00
R5864:Ripk4 UTSW 16 97763582 missense probably damaging 0.98
R6027:Ripk4 UTSW 16 97744074 missense probably damaging 1.00
R6035:Ripk4 UTSW 16 97744187 missense probably damaging 1.00
R6035:Ripk4 UTSW 16 97744187 missense probably damaging 1.00
R6291:Ripk4 UTSW 16 97755123 missense probably damaging 1.00
R6343:Ripk4 UTSW 16 97763526 critical splice donor site probably benign
R6572:Ripk4 UTSW 16 97745905 nonsense probably null
R6783:Ripk4 UTSW 16 97748037 missense probably damaging 1.00
R6822:Ripk4 UTSW 16 97746036 missense probably damaging 1.00
R7215:Ripk4 UTSW 16 97747323 splice site probably null
R7251:Ripk4 UTSW 16 97743249 missense probably benign
R7275:Ripk4 UTSW 16 97743957 missense probably benign 0.00
R7356:Ripk4 UTSW 16 97743149 missense probably damaging 0.98
R7621:Ripk4 UTSW 16 97745925 missense probably damaging 1.00
R8065:Ripk4 UTSW 16 97763537 missense probably damaging 0.97
R8067:Ripk4 UTSW 16 97763537 missense probably damaging 0.97
R8191:Ripk4 UTSW 16 97763526 critical splice donor site probably benign
Z1176:Ripk4 UTSW 16 97750102 missense probably damaging 1.00
Z1177:Ripk4 UTSW 16 97755178 missense probably benign 0.04
Posted On2014-05-07