Incidental Mutation 'R1777:Krit1'
ID 197090
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 039808-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1777 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 3853156-3894515 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3886799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 635 (Y635H)
Ref Sequence ENSEMBL: ENSMUSP00000143559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080085] [ENSMUST00000171023] [ENSMUST00000200386] [ENSMUST00000200577]
AlphaFold Q6S5J6
Predicted Effect possibly damaging
Transcript: ENSMUST00000080085
AA Change: Y683H

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000078985
Gene: ENSMUSG00000000600
AA Change: Y683H

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000200386
AA Change: Y635H

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143559
Gene: ENSMUSG00000000600
AA Change: Y635H

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.1%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444P10Rik T A 1: 16,148,813 (GRCm39) D111V possibly damaging Het
Ap2a1 G A 7: 44,553,576 (GRCm39) T597M probably damaging Het
Arhgap25 A G 6: 87,440,289 (GRCm39) S364P probably benign Het
Atp6v1a G T 16: 43,935,068 (GRCm39) Y40* probably null Het
Cdh1 T A 8: 107,383,467 (GRCm39) H235Q probably damaging Het
Cntln A G 4: 85,048,916 (GRCm39) E1376G probably benign Het
Cntnap5b T A 1: 100,297,803 (GRCm39) S781T probably benign Het
Cpne4 A G 9: 104,749,887 (GRCm39) T64A probably damaging Het
Ctsg T C 14: 56,338,058 (GRCm39) Y179C probably damaging Het
Cx3cr1 A G 9: 119,880,659 (GRCm39) Y248H probably damaging Het
Dhx37 T C 5: 125,506,995 (GRCm39) E167G probably benign Het
Dnajc21 C A 15: 10,449,693 (GRCm39) A443S probably benign Het
Drd5 T C 5: 38,477,504 (GRCm39) S166P probably damaging Het
Dscaml1 T C 9: 45,595,054 (GRCm39) L719P possibly damaging Het
Eif2ak4 T C 2: 118,261,320 (GRCm39) I542T probably damaging Het
Ephb3 G A 16: 21,035,985 (GRCm39) G291E probably damaging Het
Eva1a T A 6: 82,069,137 (GRCm39) Y155N probably damaging Het
Exog C T 9: 119,278,884 (GRCm39) P189L probably damaging Het
Fam13b A G 18: 34,590,813 (GRCm39) V455A possibly damaging Het
Fmn2 C A 1: 174,409,488 (GRCm39) Q574K unknown Het
Gm6871 A T 7: 41,195,143 (GRCm39) S531R probably benign Het
Golga2 T A 2: 32,195,482 (GRCm39) probably null Het
Hydin C T 8: 111,316,203 (GRCm39) P4365L probably benign Het
Ints8 A T 4: 11,225,600 (GRCm39) probably null Het
Kbtbd12 A C 6: 88,595,042 (GRCm39) S263A probably benign Het
Kcng4 T C 8: 120,360,226 (GRCm39) D50G probably benign Het
Klhl18 A T 9: 110,266,469 (GRCm39) C217S probably benign Het
Klk1b4 A G 7: 43,856,875 (GRCm39) probably benign Het
Klk7 G A 7: 43,462,753 (GRCm39) C186Y probably damaging Het
Krbox5 A T 13: 67,981,984 (GRCm39) R65S probably benign Het
Lipo4 A T 19: 33,476,721 (GRCm39) D342E probably damaging Het
Lsm14b T G 2: 179,673,588 (GRCm39) D199E probably benign Het
Map3k4 A T 17: 12,490,617 (GRCm39) N271K possibly damaging Het
Mast1 T A 8: 85,638,697 (GRCm39) N1544I probably benign Het
Megf6 T A 4: 154,355,147 (GRCm39) C1487* probably null Het
Mlh3 C A 12: 85,315,528 (GRCm39) K219N possibly damaging Het
Mtmr4 A G 11: 87,493,656 (GRCm39) K305E probably damaging Het
Myo15a A G 11: 60,405,762 (GRCm39) M3105V probably benign Het
Nbas A T 12: 13,563,563 (GRCm39) I1958F probably benign Het
Nepro A T 16: 44,556,216 (GRCm39) Q458L probably damaging Het
Opa3 T C 7: 18,978,837 (GRCm39) Y101H probably damaging Het
Or11g25 T A 14: 50,723,757 (GRCm39) F281I probably benign Het
Or14c41 T A 7: 86,235,272 (GRCm39) I263N probably benign Het
Or4f15 T A 2: 111,814,042 (GRCm39) I126L possibly damaging Het
Or51f1d T C 7: 102,700,583 (GRCm39) I26T probably benign Het
Or5ac16 A G 16: 59,022,379 (GRCm39) S137P probably benign Het
Or8b12 A G 9: 37,657,607 (GRCm39) Y59C possibly damaging Het
Pate3 T C 9: 35,559,412 (GRCm39) N2D probably benign Het
Pcdhb21 T A 18: 37,648,771 (GRCm39) D633E possibly damaging Het
Pgm2 C T 5: 64,285,125 (GRCm39) P589L probably benign Het
Pigg T A 5: 108,465,257 (GRCm39) D163E probably damaging Het
Polq A G 16: 36,880,586 (GRCm39) T638A possibly damaging Het
Prmt3 T A 7: 49,448,094 (GRCm39) M268K possibly damaging Het
Prmt9 T C 8: 78,291,737 (GRCm39) C370R probably benign Het
Prss57 A T 10: 79,623,219 (GRCm39) V76E possibly damaging Het
Psme3ip1 T C 8: 95,315,439 (GRCm39) E31G probably damaging Het
Pzp T C 6: 128,467,535 (GRCm39) E1089G possibly damaging Het
Qars1 T A 9: 108,385,400 (GRCm39) probably null Het
Ralgapb T C 2: 158,304,115 (GRCm39) Y625H probably damaging Het
Rgl2 G A 17: 34,150,718 (GRCm39) D59N probably benign Het
Robo1 T G 16: 72,801,555 (GRCm39) W1060G probably benign Het
Scaper A T 9: 55,771,830 (GRCm39) V362E probably benign Het
Schip1 T C 3: 68,525,017 (GRCm39) F131S probably damaging Het
Sh2b2 A T 5: 136,256,276 (GRCm39) V252D probably damaging Het
Shld2 C A 14: 33,990,130 (GRCm39) V259L probably benign Het
Slc17a6 A T 7: 51,295,957 (GRCm39) H199L possibly damaging Het
Slc29a1 A G 17: 45,898,234 (GRCm39) Y325H probably damaging Het
Slc29a4 G T 5: 142,699,817 (GRCm39) W156L probably damaging Het
Slc5a3 T A 16: 91,874,644 (GRCm39) S234T probably benign Het
Srd5a3 T G 5: 76,297,630 (GRCm39) V20G probably damaging Het
Stac A T 9: 111,433,150 (GRCm39) S223T possibly damaging Het
Sytl2 A T 7: 90,052,260 (GRCm39) T766S probably benign Het
Tas2r102 A G 6: 132,739,254 (GRCm39) D54G probably benign Het
Tbpl1 A G 10: 22,583,742 (GRCm39) V105A probably damaging Het
Tenm3 G T 8: 48,870,214 (GRCm39) P193Q probably benign Het
Tes G A 6: 17,104,754 (GRCm39) V403M probably benign Het
Tgfbr2 A C 9: 115,938,948 (GRCm39) I318S probably damaging Het
Tgfbr3 C A 5: 107,284,796 (GRCm39) V618L probably benign Het
Tmc1 C T 19: 20,793,473 (GRCm39) probably null Het
Tmem132a G A 19: 10,835,870 (GRCm39) H887Y probably damaging Het
Tmem43 C A 6: 91,454,312 (GRCm39) S33* probably null Het
Tob1 A G 11: 94,104,580 (GRCm39) K39E probably damaging Het
Tut7 A T 13: 59,939,635 (GRCm39) H705Q probably damaging Het
Unc79 T A 12: 103,078,714 (GRCm39) D1433E probably damaging Het
Usp25 T C 16: 76,878,442 (GRCm39) M622T probably damaging Het
Vmn1r158 A T 7: 22,489,855 (GRCm39) L118Q probably damaging Het
Vmn1r217 T A 13: 23,298,495 (GRCm39) I136L probably benign Het
Vmn2r15 A T 5: 109,442,136 (GRCm39) I99K possibly damaging Het
Vwa7 T A 17: 35,243,924 (GRCm39) V786E probably damaging Het
Xkr5 A G 8: 18,989,148 (GRCm39) F248S probably benign Het
Zzef1 A T 11: 72,801,098 (GRCm39) K2444M probably 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
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
R6338:Krit1 UTSW 5 3,886,857 (GRCm39) missense probably benign 0.01
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
(F):5'- GGTCCTTCAGGCTCTGTGAAGTTG -3'
(R):5'- TGCCACCCAGAGTATAGTTCACATAGT -3'

Sequencing Primer
(F):5'- aagggtctcatatagctggtctc -3'
(R):5'- CATCTAATACTAAAGGTTTCCAGGG -3'
Posted On 2014-05-23