Incidental Mutation 'R7009:Ripk1'
ID 544924
Institutional Source Beutler Lab
Gene Symbol Ripk1
Ensembl Gene ENSMUSG00000021408
Gene Name receptor (TNFRSF)-interacting serine-threonine kinase 1
Synonyms Rinp, Rip1
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # R7009 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 34002363-34037147 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34030062 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 522 (I522M)
Ref Sequence ENSEMBL: ENSMUSP00000129831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021844] [ENSMUST00000167374]
AlphaFold Q60855
Predicted Effect probably damaging
Transcript: ENSMUST00000021844
AA Change: I522M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021844
Gene: ENSMUSG00000021408
AA Change: I522M

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 probably damaging
Transcript: ENSMUST00000167374
AA Change: I522M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129831
Gene: ENSMUSG00000021408
AA Change: I522M

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
SMART Domains Protein: ENSMUSP00000128511
Gene: ENSMUSG00000021408
AA Change: I462M

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (82/83)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700007G11Rik A T 5: 98,784,520 D193V probably damaging Het
4921517D22Rik G T 13: 59,690,810 D69E possibly damaging Het
Abat A C 16: 8,602,367 M177L probably benign Het
Acadvl A G 11: 70,014,791 probably null Het
Adam5 T C 8: 24,806,438 N331S probably benign Het
Ager A G 17: 34,600,736 E372G probably damaging Het
Angpt1 T A 15: 42,523,595 Q121L possibly damaging Het
Apoa4 A T 9: 46,242,880 I260F possibly damaging Het
Arhgap32 A T 9: 32,245,976 I90F probably damaging Het
Arhgap5 A T 12: 52,519,639 Q1131L probably benign Het
Bach1 G A 16: 87,719,291 R240Q probably benign Het
Cacna2d3 A T 14: 28,969,365 M1K probably null Het
Ccdc18 G A 5: 108,173,862 probably null Het
Ccdc42 T C 11: 68,594,616 F267S probably damaging Het
Cdh23 T A 10: 60,337,306 Y1700F probably damaging Het
Cenpe A T 3: 135,235,201 S704C probably damaging Het
Cenpe G A 3: 135,235,202 S704N probably benign Het
Cfap54 A T 10: 92,875,019 S2727T unknown Het
Clu T A 14: 65,971,832 V113D probably damaging Het
Cnbd2 A G 2: 156,320,034 I98V probably benign Het
Copa G T 1: 172,091,000 R97L probably damaging Het
Epb41l1 C A 2: 156,534,683 probably null Het
Etnk1 T A 6: 143,203,154 probably null Het
Fnip1 A T 11: 54,502,935 K732N probably damaging Het
G6pd2 A G 5: 61,808,891 E3G probably benign Het
Gal3st2 A G 1: 93,873,759 T95A probably benign Het
Gapvd1 A G 2: 34,700,817 S948P probably damaging Het
Ggps1 A T 13: 14,054,165 Y8* probably null Het
Gria2 T C 3: 80,706,972 E587G probably damaging Het
Hpse T C 5: 100,692,279 E324G probably benign Het
Il16 G A 7: 83,646,388 T493I probably benign Het
Ints1 T C 5: 139,768,462 T652A possibly damaging Het
Ism1 A G 2: 139,757,279 I391V probably damaging Het
Katnb1 A G 8: 95,098,384 D598G probably damaging Het
Kif5c A G 2: 49,757,429 S880G probably benign Het
Klra8 T C 6: 130,125,184 N96S probably benign Het
Krt79 T A 15: 101,931,441 D373V probably damaging Het
Lamtor4 G A 5: 138,259,112 R92Q probably benign Het
Lce1d C A 3: 92,686,046 C20F unknown Het
Limk1 T C 5: 134,672,699 T117A probably benign Het
Medag A T 5: 149,427,243 K61M probably benign Het
Mkrn3 T C 7: 62,419,618 M142V probably benign Het
Mob3c G A 4: 115,831,582 R104H probably benign Het
Morc1 G T 16: 48,627,070 R903L possibly damaging Het
Myh6 T C 14: 54,952,292 E1099G probably damaging Het
Nphp3 T G 9: 104,016,116 C434G probably null Het
Npr3 C T 15: 11,905,248 C131Y probably damaging Het
Oacyl C A 18: 65,722,538 Y112* probably null Het
Oprl1 A G 2: 181,718,381 T77A probably damaging Het
Osgep A G 14: 50,924,708 V24A probably damaging Het
Otx2 T A 14: 48,658,797 K260M probably damaging Het
Pdcd11 T C 19: 47,113,142 L922P probably benign Het
Phldb1 A G 9: 44,694,408 V375A probably damaging Het
Pip5k1b C T 19: 24,359,935 probably null Het
Psmd3 G A 11: 98,682,766 D13N probably benign Het
Ptprc G A 1: 138,064,553 H1140Y probably damaging Het
Ranbp3l A T 15: 9,062,984 H291L probably damaging Het
Rasa4 T A 5: 136,101,363 D324E probably damaging Het
Rilpl1 T A 5: 124,503,692 silent Het
Rin2 A C 2: 145,883,475 D794A probably damaging Het
Rnf31 T C 14: 55,592,551 Y143H probably benign Het
Rp1 T G 1: 4,042,068 I1187L unknown Het
Rps6ka5 G A 12: 100,619,537 H166Y probably damaging Het
Rrm1 T C 7: 102,460,334 V455A probably damaging Het
Runx2 G A 17: 44,814,192 P80L probably damaging Het
Scn5a T G 9: 119,485,930 E1904A probably damaging Het
Sec16a G T 2: 26,436,002 S240* probably null Het
Slc22a8 C T 19: 8,605,417 T154I probably benign Het
Slc25a16 T A 10: 62,937,454 V156E possibly damaging Het
Slc28a3 A T 13: 58,610,804 S2T probably benign Het
Srd5a3 G A 5: 76,149,866 V48I probably benign Het
Srebf1 A C 11: 60,200,526 H1025Q probably damaging Het
Stard9 A G 2: 120,697,191 K1310E probably benign Het
Swt1 A G 1: 151,370,630 V848A possibly damaging Het
Tanc2 A T 11: 105,840,699 T434S possibly damaging Het
Tcf20 G A 15: 82,854,682 T856I probably benign Het
Tcf7l2 T C 19: 55,894,733 probably null Het
Tmem246 A T 4: 49,586,325 M281K probably benign Het
Trim45 A G 3: 100,931,879 probably benign Het
Tsen2 T A 6: 115,547,972 M44K possibly damaging Het
Ttc21a T A 9: 119,958,073 C715* probably null Het
Vmn2r102 G A 17: 19,694,194 V674I probably damaging Het
Zfp87 A G 13: 67,517,054 S430P probably damaging Het
Other mutations in Ripk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01443:Ripk1 APN 13 34015268 missense probably damaging 0.96
IGL01873:Ripk1 APN 13 34009724 missense probably damaging 1.00
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
R7956:Ripk1 UTSW 13 34009683 missense probably benign 0.02
R8497:Ripk1 UTSW 13 34027951 missense probably damaging 0.98
R8680:Ripk1 UTSW 13 34030049 missense possibly damaging 0.54
R9021:Ripk1 UTSW 13 34021390 missense probably benign 0.38
R9132:Ripk1 UTSW 13 34028201 missense probably benign 0.01
R9620:Ripk1 UTSW 13 34026823 missense possibly damaging 0.91
Z1177:Ripk1 UTSW 13 34028135 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGGTTGTGAAGTCGAGAAGC -3'
(R):5'- GGGAGAACCTTAAAAGAAGATTCTATC -3'

Sequencing Primer
(F):5'- TGAAGTCGAGAAGCCATATTATAAAG -3'
(R):5'- CAAGGCTTCATGCATGCTAG -3'
Posted On 2019-05-13