Mutagenetix > Incidental Mutation

Incidental Mutation 'R2115:Krit1'

233014

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

040119-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2115 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3853156-3894515 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 3872108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 378 (R378*)

Ref Sequence

ENSEMBL: ENSMUSP00000143559 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080085] [ENSMUST00000171023] [ENSMUST00000200386] [ENSMUST00000200577]

AlphaFold

Q6S5J6

Predicted Effect

probably null
Transcript: ENSMUST00000080085
AA Change: R426*

SMART Domains

Protein: ENSMUSP00000078985
Gene: ENSMUSG00000000600
AA Change: R426*

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000171023
AA Change: R426*

SMART Domains

Protein: ENSMUSP00000132375
Gene: ENSMUSG00000000600
AA Change: R426*

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000200386
AA Change: R378*

SMART Domains

Protein: ENSMUSP00000143559
Gene: ENSMUSG00000000600
AA Change: R378*

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (95/97)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,900,562 (GRCm39)	T1195A	probably benign	Het
Abca12	A	T	1: 71,283,930 (GRCm39)	N2547K	probably benign	Het
Abca16	A	C	7: 120,139,868 (GRCm39)	E1510A	probably damaging	Het
Adam5	A	G	8: 25,234,161 (GRCm39)		probably benign	Het
Akna	G	A	4: 63,313,397 (GRCm39)	P242L	probably benign	Het
Akr1b7	G	A	6: 34,395,929 (GRCm39)	A144T	possibly damaging	Het
Ankhd1	T	A	18: 36,767,361 (GRCm39)	S1167T	probably damaging	Het
Arf5	C	T	6: 28,424,783 (GRCm39)	Q71*	probably null	Het
Ark2n	T	C	18: 77,762,168 (GRCm39)	D48G	possibly damaging	Het
Arl15	C	T	13: 114,104,196 (GRCm39)	S111F	probably damaging	Het
Atxn1l	C	T	8: 110,459,240 (GRCm39)	A341T	probably benign	Het
Birc7	C	A	2: 180,572,642 (GRCm39)	Q138K	possibly damaging	Het
Blvra	G	T	2: 126,927,989 (GRCm39)	E80*	probably null	Het
Ccdc148	T	C	2: 58,892,128 (GRCm39)	E188G	probably damaging	Het
Chad	C	T	11: 94,459,052 (GRCm39)	A318V	probably benign	Het
Cntfr	A	G	4: 41,663,534 (GRCm39)		probably null	Het
Dnah17	C	T	11: 118,010,628 (GRCm39)	C230Y	probably benign	Het
Dnmt3l	C	A	10: 77,899,130 (GRCm39)	L110I	probably damaging	Het
Dusp11	T	C	6: 85,935,651 (GRCm39)	D74G	probably damaging	Het
Duxf4	T	C	10: 58,072,073 (GRCm39)	D47G	possibly damaging	Het
Eif3m	T	C	2: 104,837,141 (GRCm39)	T61A	probably damaging	Het
Esyt1	T	A	10: 128,357,973 (GRCm39)	D212V	probably damaging	Het
Exoc4	T	A	6: 33,324,760 (GRCm39)	N351K	possibly damaging	Het
F13a1	A	T	13: 37,172,831 (GRCm39)	I183N	probably damaging	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Fam83h	A	T	15: 75,874,146 (GRCm39)	Y1064N	probably damaging	Het
Flrt3	G	T	2: 140,503,423 (GRCm39)	N68K	probably damaging	Het
Fut7	C	A	2: 25,315,343 (GRCm39)	Y153*	probably null	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gm1527	T	C	3: 28,972,098 (GRCm39)	L405P	probably benign	Het
Heatr6	T	A	11: 83,648,281 (GRCm39)		probably benign	Het
Herc2	T	C	7: 55,835,576 (GRCm39)		probably benign	Het
Ints14	T	G	9: 64,887,077 (GRCm39)	L336R	probably damaging	Het
Irak1	G	T	X: 73,066,218 (GRCm39)	P197Q	possibly damaging	Het
Kat7	C	T	11: 95,194,120 (GRCm39)	R60Q	probably benign	Het
Katnal2	T	C	18: 77,067,787 (GRCm39)	R385G	probably damaging	Het
Kcnt2	G	T	1: 140,480,701 (GRCm39)	L755F	probably damaging	Het
Kif4	A	G	X: 99,709,323 (GRCm39)	S315G	probably benign	Het
Kifc3	A	G	8: 95,835,341 (GRCm39)	Y178H	probably damaging	Het
L3mbtl1	T	A	2: 162,801,990 (GRCm39)		probably null	Het
Lama3	C	A	18: 12,535,906 (GRCm39)	T204N	possibly damaging	Het
Lama5	A	G	2: 179,828,678 (GRCm39)	C2090R	probably damaging	Het
Mb	G	T	15: 76,906,759 (GRCm39)	Q9K	probably benign	Het
Mipep	T	C	14: 61,024,829 (GRCm39)	V90A	probably damaging	Het
Myo3a	A	T	2: 22,250,342 (GRCm39)	I70F	probably damaging	Het
Napa	A	G	7: 15,848,134 (GRCm39)	D217G	possibly damaging	Het
Nectin2	T	C	7: 19,451,489 (GRCm39)	D515G	probably damaging	Het
Nkx2-6	T	A	14: 69,409,288 (GRCm39)	V13E	probably damaging	Het
Nmi	T	C	2: 51,838,719 (GRCm39)	T272A	probably benign	Het
Nptx2	G	C	5: 144,492,216 (GRCm39)	G331A	probably damaging	Het
Or2q1	A	G	6: 42,794,431 (GRCm39)	T9A	possibly damaging	Het
Or4c122	T	C	2: 89,079,874 (GRCm39)	I55V	probably damaging	Het
Or5h17	T	C	16: 58,820,783 (GRCm39)	L245P	possibly damaging	Het
Or7g34	T	C	9: 19,478,618 (GRCm39)	T18A	probably benign	Het
Parp14	T	C	16: 35,678,904 (GRCm39)	T355A	probably benign	Het
Pcdh12	T	C	18: 38,417,039 (GRCm39)	T29A	probably damaging	Het
Pced1b	T	A	15: 97,282,505 (GRCm39)	C181*	probably null	Het
Phka1	C	T	X: 101,653,807 (GRCm39)	R290H	probably damaging	Het
Pick1	T	A	15: 79,139,781 (GRCm39)		probably benign	Het
Pitrm1	A	T	13: 6,607,809 (GRCm39)	Y268F	probably damaging	Het
Polr2h	T	C	16: 20,537,737 (GRCm39)		probably benign	Het
Ppfia2	A	T	10: 106,597,972 (GRCm39)	K178N	probably damaging	Het
Prkag1	T	C	15: 98,712,433 (GRCm39)	Y133C	probably damaging	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Ptpra	G	T	2: 130,381,655 (GRCm39)	R372L	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Qrich2	A	G	11: 116,337,982 (GRCm39)	V1887A	probably damaging	Het
Ralgapa1	T	C	12: 55,833,134 (GRCm39)		probably null	Het
Rassf9	A	G	10: 102,380,806 (GRCm39)	T63A	probably benign	Het
Rdh11	G	T	12: 79,222,996 (GRCm39)	Q292K	probably benign	Het
Rere	C	A	4: 150,697,018 (GRCm39)		probably benign	Het
Rgs18	G	T	1: 144,629,629 (GRCm39)	T210K	possibly damaging	Het
Rnf213	A	G	11: 119,318,839 (GRCm39)	N1099S	probably benign	Het
Ros1	T	C	10: 52,004,651 (GRCm39)	I969V	probably benign	Het
Rrh	T	C	3: 129,604,336 (GRCm39)	I288M	probably damaging	Het
Rrp12	C	T	19: 41,879,533 (GRCm39)	V174I	probably benign	Het
Rtf1	T	A	2: 119,535,999 (GRCm39)	H184Q	probably benign	Het
Sbk3	A	G	7: 4,970,415 (GRCm39)	L318S	possibly damaging	Het
Scn9a	T	C	2: 66,314,396 (GRCm39)	E1774G	probably damaging	Het
Sec11c	A	T	18: 65,933,720 (GRCm39)	T9S	probably benign	Het
Sec23ip	G	A	7: 128,364,185 (GRCm39)	V488I	probably benign	Het
Serpine3	T	C	14: 62,910,459 (GRCm39)	L184P	probably damaging	Het
Slc26a2	T	C	18: 61,331,896 (GRCm39)	T512A	possibly damaging	Het
Slc49a4	T	C	16: 35,518,309 (GRCm39)	D468G	probably benign	Het
Smpd4	T	C	16: 17,444,729 (GRCm39)	Y118H	probably benign	Het
Tcof1	T	C	18: 60,965,857 (GRCm39)	E415G	possibly damaging	Het
Ttc33	G	A	15: 5,241,534 (GRCm39)	V120I	probably benign	Het
Usp20	T	A	2: 30,906,317 (GRCm39)	C562S	probably damaging	Het
Utp20	T	C	10: 88,621,865 (GRCm39)	D1136G	probably benign	Het
Vgll1	A	C	X: 56,137,790 (GRCm39)	K53T	probably damaging	Het
Yars1	T	G	4: 129,101,716 (GRCm39)		probably null	Het
Zfp472	A	G	17: 33,196,988 (GRCm39)	I354M	possibly damaging	Het
Zfp786	A	G	6: 47,803,931 (GRCm39)	V37A	probably damaging	Het

Other mutations in Krit1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GCAGAAATTATCTTGTTCCTCTATGGT -3'
(R):5'- TCCACAAGTTTCTTAATACACATCCA -3'

Sequencing Primer
(F):5'- TGGGCTGCAAATCCCTTAAG -3'
(R):5'- GCTGAGTTTCCTGAGAGA -3'

Posted On

2014-09-18