Incidental Mutation 'R7684:Krit1'
ID 592929
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 067780-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7684 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 3853156-3894515 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3880723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 561 (I561V)
Ref Sequence ENSEMBL: ENSMUSP00000078985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080085] [ENSMUST00000171023] [ENSMUST00000200386] [ENSMUST00000200577]
AlphaFold Q6S5J6
Predicted Effect possibly damaging
Transcript: ENSMUST00000080085
AA Change: I561V

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000078985
Gene: ENSMUSG00000000600
AA Change: I561V

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 possibly damaging
Transcript: ENSMUST00000171023
AA Change: I561V

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132375
Gene: ENSMUSG00000000600
AA Change: I561V

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 probably benign
Transcript: ENSMUST00000200386
AA Change: I513V

PolyPhen 2 Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143559
Gene: ENSMUSG00000000600
AA Change: I513V

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (73/73)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,760,659 (GRCm39) K1239* probably null Het
Abhd6 T C 14: 8,039,807 (GRCm38) F60S probably damaging Het
Adam6b G A 12: 113,455,196 (GRCm39) W671* probably null Het
Ankrd36 A G 11: 5,520,113 (GRCm39) T63A possibly damaging Het
Arhgef16 A G 4: 154,366,285 (GRCm39) V494A possibly damaging Het
Arhgef7 T A 8: 11,869,663 (GRCm39) M659K probably benign Het
Cacna1h A G 17: 25,608,346 (GRCm39) Y854H probably damaging Het
Chd3 A T 11: 69,248,692 (GRCm39) F780I possibly damaging Het
Cldn8 A G 16: 88,359,335 (GRCm39) Y197H probably damaging Het
Cpne8 A T 15: 90,533,450 (GRCm39) D58E probably damaging Het
Cul9 T G 17: 46,820,815 (GRCm39) Y1954S probably damaging Het
Cyp4a10 T A 4: 115,375,549 (GRCm39) F11I probably benign Het
Cysrt1 A T 2: 25,129,094 (GRCm39) C139* probably null Het
Dnajc16 A G 4: 141,501,879 (GRCm39) V317A probably benign Het
Dnmt3a T C 12: 3,947,340 (GRCm39) V437A probably benign Het
Dok5 T C 2: 170,683,344 (GRCm39) C202R probably damaging Het
Dusp11 T A 6: 85,927,542 (GRCm39) R164S probably damaging Het
Dysf T C 6: 84,077,117 (GRCm39) S648P probably benign Het
Egfem1 A T 3: 29,744,334 (GRCm39) R581S probably damaging Het
Enpep A G 3: 129,115,094 (GRCm39) F226S probably damaging Het
Ep400 A G 5: 110,845,218 (GRCm39) I1541T unknown Het
Exd1 A G 2: 119,350,684 (GRCm39) S526P probably damaging Het
Fam118a A G 15: 84,942,982 (GRCm39) E337G possibly damaging Het
Fam20b T C 1: 156,518,215 (GRCm39) N193S probably benign Het
Fat3 A G 9: 15,899,564 (GRCm39) probably null Het
Flg2 T C 3: 93,126,956 (GRCm39) V1956A unknown Het
Fzd10 A G 5: 128,678,480 (GRCm39) I67V possibly damaging Het
Gckr A T 5: 31,465,141 (GRCm39) D370V probably damaging Het
Gm8797 A T 3: 5,816,148 (GRCm39) Q62L probably benign Het
H6pd G T 4: 150,080,519 (GRCm39) Q109K probably benign Het
Higd1a T C 9: 121,679,322 (GRCm39) K55R possibly damaging Het
Il1b C T 2: 129,209,277 (GRCm39) V118I probably benign Het
Insr T C 8: 3,219,753 (GRCm39) N923S possibly damaging Het
Lamc2 T C 1: 153,002,771 (GRCm39) D1070G probably null Het
Lpcat2 T A 8: 93,635,823 (GRCm39) D408E possibly damaging Het
Mst1r T A 9: 107,788,762 (GRCm39) F427Y probably benign Het
Mtx1 A T 3: 89,117,739 (GRCm39) I258K possibly damaging Het
Nckap5 T C 1: 125,954,594 (GRCm39) T653A probably benign Het
Npas3 A T 12: 54,115,609 (GRCm39) N844Y probably damaging Het
Nrg3 A T 14: 39,194,522 (GRCm39) L79Q probably damaging Het
Nsmce1 C A 7: 125,070,348 (GRCm39) K154N probably damaging Het
Oard1 T C 17: 48,723,726 (GRCm39) L124P probably damaging Het
Or10ag57 T C 2: 87,218,372 (GRCm39) S108P probably damaging Het
Or10ak13 T C 4: 118,639,471 (GRCm39) M104V probably benign Het
Or51a10 G A 7: 103,698,667 (GRCm39) T298I probably damaging Het
Or51ah3 T C 7: 103,210,425 (GRCm39) F247S probably benign Het
Ovgp1 A T 3: 105,887,272 (GRCm39) T223S probably damaging Het
Pik3c2a A T 7: 115,987,312 (GRCm39) Y536* probably null Het
Plekho2 A T 9: 65,466,816 (GRCm39) probably null Het
Prelid3b T C 2: 174,310,210 (GRCm39) probably null Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rxfp1 T A 3: 79,578,214 (GRCm39) N159I possibly damaging Het
Sfmbt1 A G 14: 30,532,311 (GRCm39) Q557R probably damaging Het
Slc22a18 G T 7: 143,044,577 (GRCm39) V177L probably benign Het
Slc22a8 A G 19: 8,587,294 (GRCm39) I451M probably benign Het
Slc39a12 T C 2: 14,454,670 (GRCm39) S563P probably damaging Het
Snx20 T C 8: 89,353,863 (GRCm39) D289G probably benign Het
Sptb A G 12: 76,658,969 (GRCm39) Y1189H probably benign Het
Tbc1d1 T A 5: 64,473,829 (GRCm39) M784K probably benign Het
Tbkbp1 T C 11: 97,038,559 (GRCm39) probably benign Het
Tfap2b G C 1: 19,284,511 (GRCm39) D140H probably damaging Het
Thy1 G A 9: 43,957,855 (GRCm39) G13D unknown Het
Ticam1 A G 17: 56,576,984 (GRCm39) S704P unknown Het
Tmem151b A G 17: 45,857,929 (GRCm39) Y106H probably damaging Het
Trappc8 T C 18: 20,996,559 (GRCm39) N452S probably benign Het
Ttc9c A G 19: 8,789,128 (GRCm39) Y166H probably damaging Het
Txndc16 A G 14: 45,385,325 (GRCm39) V556A possibly damaging Het
Tyrp1 C A 4: 80,758,862 (GRCm39) S245Y probably damaging Het
Urb1 A T 16: 90,583,006 (GRCm39) L621* probably null Het
Wdr72 A T 9: 74,054,292 (GRCm39) T224S probably damaging Het
Zc3h18 T G 8: 123,134,165 (GRCm39) S544A unknown Het
Zfp462 T A 4: 55,008,908 (GRCm39) N291K probably benign Het
Zfp609 T C 9: 65,638,362 (GRCm39) N290S possibly damaging Het
Zfp979 A T 4: 147,697,799 (GRCm39) H303Q 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
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
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
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'- ACCCCTGCTCTAGTATAGTAATAGC -3'
(R):5'- GGTGGGATTCTTAAATATCTGACTC -3'

Sequencing Primer
(F):5'- AGCATACACACACAGTTATATAGTTG -3'
(R):5'- CTGAGACAAGGTCTTCCTATGCAG -3'
Posted On 2019-11-12