Incidental Mutation 'R6338:Krit1'
ID 514315
Institutional Source Beutler Lab
Gene Symbol Krit1
Ensembl Gene ENSMUSG00000000600
Gene Name KRIT1, ankyrin repeat containing
Synonyms A630036P20Rik, Krit1B, 2010007K12Rik, Ccm1, Krit1A, Krit1
MMRRC Submission 044492-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6338 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 3853156-3894515 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 3886857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 702 (M702R)
Ref Sequence ENSEMBL: ENSMUSP00000078985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080085] [ENSMUST00000171023] [ENSMUST00000200386] [ENSMUST00000200577]
AlphaFold Q6S5J6
Predicted Effect probably benign
Transcript: ENSMUST00000080085
AA Change: M702R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000078985
Gene: ENSMUSG00000000600
AA Change: M702R

Pfam:NUDIX_5 22 198 3.8e-88 PFAM
ANK 287 316 1.04e2 SMART
ANK 320 350 4.5e-3 SMART
ANK 354 382 1.17e-1 SMART
B41 416 640 1.39e-39 SMART
Blast:B41 673 702 6e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000171023
SMART Domains Protein: ENSMUSP00000132375
Gene: ENSMUSG00000000600

PDB:4DX8|K 1 198 1e-125 PDB
ANK 287 316 1.04e2 SMART
ANK 320 350 4.5e-3 SMART
ANK 354 382 1.17e-1 SMART
B41 416 640 1.39e-39 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199845
Predicted Effect probably benign
Transcript: ENSMUST00000200386
SMART Domains Protein: ENSMUSP00000143559
Gene: ENSMUSG00000000600

Pfam:NUDIX_5 22 198 8.1e-85 PFAM
ANK 306 334 7.5e-4 SMART
B41 368 592 9.1e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200577
SMART Domains Protein: ENSMUSP00000143776
Gene: ENSMUSG00000000600

Pfam:NUDIX_5 22 198 1.8e-85 PFAM
Blast:B41 200 329 1e-82 BLAST
SCOP:d1ycsb1 291 329 2e-8 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.1%
  • 20x: 93.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. It binds to integrin cytoplasmic domain-associated protein-1 alpha (ICAP1alpha), and plays a critical role in beta1-integrin-mediated cell proliferation. It associates with junction proteins and RAS-related protein 1A (Rap1A), which requires the encoded protein for maintaining the integrity of endothelial junctions. It is also a microtubule-associated protein and may play a role in microtubule targeting. Mutations in this gene result in cerebral cavernous malformations. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Targeted disruption of this gene results in embryonic lethality by E11. Embryos display prominent vascular defects that disrupt arterial modeling and phenocopy the human disorder of cerebral cavernous malformations. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer3 T C 7: 97,906,922 (GRCm39) Y128C probably damaging Het
Adam30 T G 3: 98,068,857 (GRCm39) I102S probably damaging Het
Adcy8 A T 15: 64,792,466 (GRCm39) D163E possibly damaging Het
Agrn C T 4: 156,255,042 (GRCm39) E1614K probably benign Het
Aldh16a1 A T 7: 44,791,385 (GRCm39) W107R probably damaging Het
Arfgef2 A G 2: 166,687,490 (GRCm39) D238G probably damaging Het
Arhgap11a T C 2: 113,664,070 (GRCm39) S738G probably benign Het
Arid5b C A 10: 67,934,391 (GRCm39) G504* probably null Het
Carmil3 T C 14: 55,737,306 (GRCm39) V763A possibly damaging Het
Cd209e T A 8: 3,899,154 (GRCm39) D186V probably damaging Het
Cdh23 T C 10: 60,248,930 (GRCm39) D882G probably damaging Het
Cdh4 T C 2: 179,532,605 (GRCm39) V689A probably damaging Het
Cntn6 T A 6: 104,703,100 (GRCm39) V174E probably damaging Het
Col7a1 C T 9: 108,785,701 (GRCm39) T390M unknown Het
Crybg1 T C 10: 43,868,505 (GRCm39) D1017G probably damaging Het
Csmd1 T G 8: 15,982,492 (GRCm39) K2725T possibly damaging Het
Dnaaf2 T C 12: 69,244,896 (GRCm39) E55G probably damaging Het
Efcab3 C T 11: 104,734,034 (GRCm39) R2027* probably null Het
Fam13a A G 6: 58,930,484 (GRCm39) V476A probably damaging Het
Fem1b A T 9: 62,704,293 (GRCm39) D322E probably benign Het
Frmpd1 G A 4: 45,274,489 (GRCm39) V466I probably benign Het
Gm20671 A T 5: 32,977,991 (GRCm39) D1794E probably damaging Het
Gpatch2 G T 1: 186,957,711 (GRCm39) R22L probably damaging Het
Gtf2h1 A G 7: 46,465,880 (GRCm39) T450A probably benign Het
Kcnc2 G C 10: 112,107,761 (GRCm39) G51R probably benign Het
Krt34 T C 11: 99,929,316 (GRCm39) N298S probably benign Het
Lrrcc1 T A 3: 14,612,376 (GRCm39) N376K possibly damaging Het
Myo15a A G 11: 60,368,959 (GRCm39) E573G probably damaging Het
Or11j4 T A 14: 50,630,857 (GRCm39) F215I possibly damaging Het
Or1af1 A T 2: 37,109,834 (GRCm39) D111V probably damaging Het
Or1e31 A T 11: 73,690,145 (GRCm39) L146Q possibly damaging Het
Or2y17 A G 11: 49,231,694 (GRCm39) S112G probably benign Het
Or4c119 T A 2: 88,986,715 (GRCm39) K268I probably damaging Het
Or56b2 T A 7: 104,337,378 (GRCm39) V52E possibly damaging Het
Phf20 A T 2: 156,115,606 (GRCm39) Q309L possibly damaging Het
Plcd1 G A 9: 118,904,059 (GRCm39) R292C probably damaging Het
Pold3 A G 7: 99,737,312 (GRCm39) V342A possibly damaging Het
Polr2a A T 11: 69,630,505 (GRCm39) probably null Het
Ptprcap A G 19: 4,206,223 (GRCm39) E102G probably benign Het
Rab11fip5 T C 6: 85,318,360 (GRCm39) E843G possibly damaging Het
Rai14 T C 15: 10,575,062 (GRCm39) D632G probably damaging Het
Rnf149 A T 1: 39,599,823 (GRCm39) C268S probably null Het
Slc6a13 T A 6: 121,311,798 (GRCm39) F392I probably damaging Het
Slc7a11 C T 3: 50,338,492 (GRCm39) probably null Het
Slf1 T A 13: 77,232,581 (GRCm39) probably null Het
Stard9 G A 2: 120,527,966 (GRCm39) V1408I probably benign Het
Suclg1 T C 6: 73,241,229 (GRCm39) I183T probably damaging Het
Syne1 T C 10: 5,205,475 (GRCm39) E3497G probably benign Het
Tax1bp1 C T 6: 52,706,361 (GRCm39) R121* probably null Het
Tdpoz2 C T 3: 93,559,643 (GRCm39) V110I probably benign Het
Ubn2 A G 6: 38,467,649 (GRCm39) T788A probably benign Het
Unc13c T A 9: 73,641,729 (GRCm39) I1255F probably damaging Het
Usp44 G T 10: 93,682,375 (GRCm39) R275I probably damaging Het
Uspl1 A G 5: 149,151,844 (GRCm39) N1015D probably benign Het
Wbp2nl G T 15: 82,183,246 (GRCm39) W13C possibly damaging Het
Zc3h14 T A 12: 98,724,849 (GRCm39) D170E possibly damaging Het
Other mutations in Krit1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01088:Krit1 APN 5 3,862,844 (GRCm39) missense probably damaging 0.98
IGL02186:Krit1 APN 5 3,859,733 (GRCm39) splice site probably benign
IGL02526:Krit1 APN 5 3,872,103 (GRCm39) missense probably damaging 1.00
IGL03280:Krit1 APN 5 3,861,248 (GRCm39) splice site probably benign
IGL03385:Krit1 APN 5 3,857,452 (GRCm39) missense possibly damaging 0.51
Waspish UTSW 5 3,881,551 (GRCm39) missense probably damaging 1.00
R0127:Krit1 UTSW 5 3,872,178 (GRCm39) missense probably damaging 0.99
R0594:Krit1 UTSW 5 3,873,694 (GRCm39) missense possibly damaging 0.71
R1157:Krit1 UTSW 5 3,882,176 (GRCm39) missense probably damaging 1.00
R1777:Krit1 UTSW 5 3,886,799 (GRCm39) missense probably damaging 0.96
R2115:Krit1 UTSW 5 3,872,108 (GRCm39) nonsense probably null
R4021:Krit1 UTSW 5 3,882,132 (GRCm39) missense probably benign 0.21
R4041:Krit1 UTSW 5 3,859,642 (GRCm39) missense probably damaging 1.00
R4786:Krit1 UTSW 5 3,862,467 (GRCm39) missense possibly damaging 0.86
R4989:Krit1 UTSW 5 3,872,238 (GRCm39) missense probably damaging 1.00
R5217:Krit1 UTSW 5 3,856,451 (GRCm39) nonsense probably null
R5304:Krit1 UTSW 5 3,869,326 (GRCm39) missense probably damaging 0.99
R5371:Krit1 UTSW 5 3,881,551 (GRCm39) missense probably damaging 1.00
R5682:Krit1 UTSW 5 3,880,737 (GRCm39) missense probably damaging 0.99
R6248:Krit1 UTSW 5 3,863,032 (GRCm39) splice site probably null
R7081:Krit1 UTSW 5 3,873,651 (GRCm39) missense possibly damaging 0.71
R7454:Krit1 UTSW 5 3,862,474 (GRCm39) missense probably damaging 0.99
R7497:Krit1 UTSW 5 3,862,349 (GRCm39) missense possibly damaging 0.93
R7684:Krit1 UTSW 5 3,880,723 (GRCm39) missense possibly damaging 0.75
R7780:Krit1 UTSW 5 3,862,772 (GRCm39) missense probably damaging 1.00
R7862:Krit1 UTSW 5 3,862,788 (GRCm39) missense probably damaging 0.99
R8041:Krit1 UTSW 5 3,857,309 (GRCm39) missense probably benign
R8882:Krit1 UTSW 5 3,886,864 (GRCm39) missense possibly damaging 0.72
R9034:Krit1 UTSW 5 3,862,996 (GRCm39) intron probably benign
R9098:Krit1 UTSW 5 3,863,135 (GRCm39) missense probably benign 0.00
R9328:Krit1 UTSW 5 3,862,577 (GRCm39) critical splice donor site probably null
R9402:Krit1 UTSW 5 3,872,210 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-04-27