Incidental Mutation 'R4989:Krit1'
ID 386022
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 042583-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4989 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 3853156-3894515 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3872238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 421 (N421I)
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: N469I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000078985
Gene: ENSMUSG00000000600
AA Change: N469I

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: N469I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132375
Gene: ENSMUSG00000000600
AA Change: N469I

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: ENSMUST00000197611
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197742
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199234
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199845
Predicted Effect probably damaging
Transcript: ENSMUST00000200386
AA Change: N421I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143559
Gene: ENSMUSG00000000600
AA Change: N421I

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
Meta Mutation Damage Score 0.6053 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 100% (115/115)
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: 114 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Acot6 A G 12: 84,155,789 (GRCm39) K246E probably benign Het
Actl11 T A 9: 107,808,615 (GRCm39) H979Q probably damaging Het
Adal T A 2: 120,986,030 (GRCm39) probably benign Het
Add2 G A 6: 86,087,840 (GRCm39) V596I probably benign Het
Adrb3 A C 8: 27,717,798 (GRCm39) M217R probably damaging Het
Ank1 T C 8: 23,631,134 (GRCm39) probably benign Het
Ank2 A T 3: 126,757,094 (GRCm39) N1054K possibly damaging Het
Ankib1 T C 5: 3,763,217 (GRCm39) Y504C probably damaging Het
Ankrd29 T C 18: 12,395,242 (GRCm39) K217R probably damaging Het
Ankrd45 T C 1: 160,982,876 (GRCm39) V129A probably damaging Het
Aox4 A T 1: 58,275,835 (GRCm39) D389V probably benign Het
Aph1a G T 3: 95,802,843 (GRCm39) G148W probably damaging Het
Arhgef26 G A 3: 62,247,806 (GRCm39) D297N possibly damaging Het
Atxn7l3b C A 10: 112,764,649 (GRCm39) probably benign Het
Auh A G 13: 52,995,065 (GRCm39) S167P probably damaging Het
Bach1 A T 16: 87,515,888 (GRCm39) K143I possibly damaging Het
Bbx T A 16: 50,045,101 (GRCm39) T487S probably damaging Het
Bche T G 3: 73,609,177 (GRCm39) D83A probably benign Het
Bri3bp G T 5: 125,518,760 (GRCm39) probably benign Het
Cd3d A T 9: 44,896,296 (GRCm39) E28D probably damaging Het
Cdc42bpa A G 1: 179,965,366 (GRCm39) T1028A probably damaging Het
Ceacam23 A G 7: 17,639,143 (GRCm39) probably null Het
Celsr2 T C 3: 108,319,945 (GRCm39) I956V possibly damaging Het
Cep95 A T 11: 106,707,480 (GRCm39) probably null Het
Cic G T 7: 24,986,535 (GRCm39) G1289C probably damaging Het
Cndp1 A G 18: 84,650,025 (GRCm39) Y223H probably damaging Het
Cops8 A G 1: 90,538,724 (GRCm39) D51G probably damaging Het
Csgalnact1 T C 8: 68,913,623 (GRCm39) E194G probably benign Het
Ctsm A G 13: 61,686,776 (GRCm39) Y39H probably damaging Het
Dhrs2 T C 14: 55,474,722 (GRCm39) V119A probably damaging Het
Drosha T A 15: 12,935,093 (GRCm39) M1336K probably benign Het
Dsp G A 13: 38,381,678 (GRCm39) D2808N possibly damaging Het
Ehmt1 G T 2: 24,767,509 (GRCm39) P135T probably damaging Het
Epas1 A G 17: 87,116,882 (GRCm39) N184S probably damaging Het
Erich3 C T 3: 154,454,025 (GRCm39) T597I possibly damaging Het
F10 T C 8: 13,105,698 (GRCm39) V421A probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam227b G A 2: 125,958,043 (GRCm39) P241S probably damaging Het
Fcgrt C T 7: 44,751,372 (GRCm39) G192D probably benign Het
Fras1 A G 5: 96,798,541 (GRCm39) E1184G possibly damaging Het
Garre1 A C 7: 33,945,225 (GRCm39) Y552D probably damaging Het
Grn C A 11: 102,321,380 (GRCm39) probably benign Het
Gvin-ps5 A T 7: 105,928,664 (GRCm39) noncoding transcript Het
Hadh A T 3: 131,029,197 (GRCm39) L274* probably null Het
Hus1 T C 11: 8,956,027 (GRCm39) S169G probably damaging Het
Hydin A T 8: 111,290,554 (GRCm39) I3338F possibly damaging Het
Ighv11-1 T G 12: 113,945,768 (GRCm39) E28D probably benign Het
Kctd9 C T 14: 67,966,805 (GRCm39) T106I probably damaging Het
Lamb1 A G 12: 31,376,677 (GRCm39) D1619G probably damaging Het
Lpar6 G A 14: 73,476,147 (GRCm39) C36Y probably damaging Het
Lrrc37a G C 11: 103,347,565 (GRCm39) F3043L unknown Het
Lrrc46 A T 11: 96,931,765 (GRCm39) V19D probably damaging Het
Mapkap1 G T 2: 34,471,303 (GRCm39) S197I probably damaging Het
Mrps35 A C 6: 146,961,645 (GRCm39) K173N possibly damaging Het
Mtf2 A G 5: 108,220,894 (GRCm39) probably benign Het
Ncf1 A C 5: 134,252,267 (GRCm39) D261E probably damaging Het
Notch1 C T 2: 26,371,193 (GRCm39) E298K probably damaging Het
Nrxn1 A T 17: 90,928,274 (GRCm39) probably benign Het
Or13a18 C A 7: 140,190,304 (GRCm39) A75E possibly damaging Het
Or4x13 T A 2: 90,231,107 (GRCm39) M34K probably benign Het
Or52a33 A G 7: 103,289,308 (GRCm39) F13S probably damaging Het
Or5k3 T C 16: 58,969,981 (GRCm39) L256P probably damaging Het
Or5v1 G T 17: 37,810,017 (GRCm39) L158F probably benign Het
Otud4 G A 8: 80,382,318 (GRCm39) V176I probably damaging Het
Pakap T A 4: 57,856,552 (GRCm39) V668E probably benign Het
Papolg T C 11: 23,823,919 (GRCm39) probably null Het
Pgk2 A G 17: 40,518,402 (GRCm39) V342A probably damaging Het
Phf2 G A 13: 48,961,320 (GRCm39) A790V unknown Het
Prkdc T C 16: 15,491,861 (GRCm39) I602T possibly damaging Het
Prl3d3 T C 13: 27,343,072 (GRCm39) I86T possibly damaging Het
Prss8 G T 7: 127,525,635 (GRCm39) Q295K probably benign Het
Ptpre C T 7: 135,270,861 (GRCm39) H346Y probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Pwwp3a T C 10: 80,068,702 (GRCm39) L282P probably benign Het
Qrfpr A G 3: 36,276,285 (GRCm39) V35A probably damaging Het
Rpf1 A G 3: 146,212,293 (GRCm39) L349S probably damaging Het
Rpl41 G T 10: 128,384,652 (GRCm39) probably null Het
Rprd2 G C 3: 95,672,632 (GRCm39) R924G probably benign Het
Serpini1 T A 3: 75,521,795 (GRCm39) N95K probably benign Het
Sfxn1 A T 13: 54,242,933 (GRCm39) T64S probably benign Het
Siae T G 9: 37,557,816 (GRCm39) I541S possibly damaging Het
Slc25a4 T A 8: 46,660,509 (GRCm39) K296N probably benign Het
Slc37a1 A G 17: 31,541,120 (GRCm39) N204S probably damaging Het
Slc9c1 A G 16: 45,413,800 (GRCm39) N976S probably benign Het
Smarcal1 T C 1: 72,672,019 (GRCm39) S847P possibly damaging Het
Smg1 A T 7: 117,757,323 (GRCm39) probably benign Het
Smg1 C T 7: 117,807,274 (GRCm39) A168T probably benign Het
Sptlc1 A G 13: 53,505,692 (GRCm39) I242T probably damaging Het
St8sia2 T C 7: 73,616,709 (GRCm39) I89V possibly damaging Het
Supt20 A T 3: 54,602,555 (GRCm39) probably benign Het
Tep1 T C 14: 51,076,457 (GRCm39) D1659G probably benign Het
Tex10 C A 4: 48,458,525 (GRCm39) probably benign Het
Thbs3 CAGAAG CAG 3: 89,130,409 (GRCm39) probably benign Het
Tmbim6 C A 15: 99,299,950 (GRCm39) S22* probably null Het
Tmc2 A T 2: 130,043,961 (GRCm39) K65M possibly damaging Het
Tmod1 A G 4: 46,090,872 (GRCm39) S142G probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trmt6 T C 2: 132,650,191 (GRCm39) R349G possibly damaging Het
Ttn T A 2: 76,537,586 (GRCm39) T26454S possibly damaging Het
Ttn C T 2: 76,605,122 (GRCm39) V16555I probably benign Het
Tut4 T A 4: 108,384,042 (GRCm39) probably benign Het
Ubr3 T C 2: 69,850,790 (GRCm39) probably benign Het
Vmn1r17 A C 6: 57,337,460 (GRCm39) F253V possibly damaging Het
Vmn1r201 G T 13: 22,659,622 (GRCm39) A279S possibly damaging Het
Vmn2r17 A T 5: 109,575,739 (GRCm39) R203S probably benign Het
Vwa5a A G 9: 38,633,926 (GRCm39) E43G probably benign Het
Wdr86 C T 5: 24,917,843 (GRCm39) probably null Het
Wdsub1 A T 2: 59,700,758 (GRCm39) probably benign Het
Zcchc7 T C 4: 44,931,039 (GRCm39) L76P probably damaging Het
Zfp108 G T 7: 23,960,163 (GRCm39) K251N probably benign Het
Zfp263 T C 16: 3,566,992 (GRCm39) C148R probably damaging Het
Zfp687 A C 3: 94,917,697 (GRCm39) F692V 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
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'- AGATGGCTTACATGGCTTTTCA -3'
(R):5'- GCAAGTACTTACAGTAAACTTGGAAGG -3'

Sequencing Primer
(F):5'- GGATGGATCATACCGTTCTG -3'
(R):5'- CTGTATTGTCAGAGAGAAAACCTC -3'
Posted On 2016-05-10