Incidental Mutation 'IGL01873:Ripk1'
ID178782
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ripk1
Ensembl Gene ENSMUSG00000021408
Gene Namereceptor (TNFRSF)-interacting serine-threonine kinase 1
SynonymsRinp, Rip1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01873
Quality Score
Status
Chromosome13
Chromosomal Location34002363-34037147 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 34009724 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 23 (L23Q)
Ref Sequence ENSEMBL: ENSMUSP00000129831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021844] [ENSMUST00000167374]
Predicted Effect probably damaging
Transcript: ENSMUST00000021844
AA Change: L23Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021844
Gene: ENSMUSG00000021408
AA Change: L23Q

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 17 286 1.2e-52 PFAM
Pfam:Pkinase 18 286 6.2e-51 PFAM
Pfam:Kinase-like 84 247 7.4e-8 PFAM
Pfam:RHIM 480 538 5.9e-10 PFAM
DEATH 558 654 1.2e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165849
Predicted Effect probably damaging
Transcript: ENSMUST00000167374
AA Change: L23Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129831
Gene: ENSMUSG00000021408
AA Change: L23Q

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 17 286 5.2e-54 PFAM
Pfam:Pkinase 18 286 1.1e-53 PFAM
Pfam:RHIM 493 539 5.2e-16 PFAM
DEATH 558 654 1.2e-25 SMART
Predicted Effect unknown
Transcript: ENSMUST00000171137
AA Change: L9Q
SMART Domains Protein: ENSMUSP00000128511
Gene: ENSMUSG00000021408
AA Change: L9Q

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 4 116 2.6e-14 PFAM
Pfam:Pkinase 5 109 1.7e-14 PFAM
Pfam:Pkinase 92 227 2.9e-14 PFAM
Pfam:Pkinase_Tyr 94 227 2.9e-21 PFAM
Pfam:RHIM 421 479 2.3e-10 PFAM
DEATH 499 595 1.2e-25 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene die within 1 and 3 days of birth displaying extensive apoptosis in both lymphoid and adipose tissue. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Chd9 A G 8: 90,933,767 T452A probably benign Het
Coq8a T A 1: 180,178,977 Q115L probably damaging Het
Cul9 T C 17: 46,502,452 E2326G probably damaging Het
Cyp2c69 A G 19: 39,881,249 probably benign Het
Dennd5b A T 6: 149,044,529 M528K probably benign Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Gm6665 T C 18: 31,820,302 S38G probably damaging Het
Gsg1l A G 7: 125,958,443 V171A probably damaging Het
Ighv5-2 A T 12: 113,578,730 S42T probably benign Het
Itch C T 2: 155,168,750 T46I possibly damaging Het
Itsn2 T G 12: 4,632,366 probably benign Het
Lime1 T C 2: 181,382,874 V107A probably benign Het
Mertk T C 2: 128,729,275 S50P possibly damaging Het
Myo5b T A 18: 74,580,396 V104E probably damaging Het
Nckap1 A T 2: 80,553,385 I145K possibly damaging Het
Ppp4r3a A T 12: 101,041,835 I794N possibly damaging Het
Psapl1 C A 5: 36,205,225 P387Q possibly damaging Het
Srrm4 G T 5: 116,591,468 probably benign Het
St6galnac1 T A 11: 116,766,611 T376S probably damaging Het
Tmem74 T C 15: 43,867,386 D87G probably benign Het
Trav19 A G 14: 53,845,716 R83G probably benign Het
Tubgcp4 T C 2: 121,188,184 probably null Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfat T C 15: 68,224,895 N23S probably benign Het
Other mutations in Ripk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01443:Ripk1 APN 13 34015268 missense probably damaging 0.96
IGL02383:Ripk1 APN 13 34015244 missense probably damaging 1.00
IGL02478:Ripk1 APN 13 34010589 missense probably damaging 1.00
R0115:Ripk1 UTSW 13 34009750 missense probably damaging 1.00
R0481:Ripk1 UTSW 13 34009750 missense probably damaging 1.00
R0630:Ripk1 UTSW 13 34027781 missense probably damaging 1.00
R1105:Ripk1 UTSW 13 34028167 missense probably benign
R1528:Ripk1 UTSW 13 34028147 missense probably benign 0.01
R1834:Ripk1 UTSW 13 34015213 missense probably benign 0.00
R2294:Ripk1 UTSW 13 34017008 missense probably benign
R2384:Ripk1 UTSW 13 34030043 missense probably benign 0.03
R4510:Ripk1 UTSW 13 34026748 missense probably damaging 1.00
R4511:Ripk1 UTSW 13 34026748 missense probably damaging 1.00
R4697:Ripk1 UTSW 13 34027942 nonsense probably null
R5078:Ripk1 UTSW 13 34017099 missense probably damaging 1.00
R5153:Ripk1 UTSW 13 34013296 missense probably damaging 1.00
R5974:Ripk1 UTSW 13 34030101 nonsense probably null
R6189:Ripk1 UTSW 13 34032501 missense probably benign 0.16
R6676:Ripk1 UTSW 13 34010604 missense probably damaging 1.00
R6905:Ripk1 UTSW 13 34027990 missense probably benign
R6997:Ripk1 UTSW 13 34017117 missense probably benign 0.00
R7009:Ripk1 UTSW 13 34030062 missense probably damaging 1.00
Posted On2014-05-07