Mutagenetix > Incidental Mutation

Incidental Mutation 'R5217:Krit1'

455990

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

042790-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5217 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3853156-3894515 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 3856451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 15 (C15*)

Ref Sequence

ENSEMBL: ENSMUSP00000142657 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043551] [ENSMUST00000080085] [ENSMUST00000171023] [ENSMUST00000198079] [ENSMUST00000200577] [ENSMUST00000200386]

AlphaFold

Q6S5J6

Predicted Effect

probably benign
Transcript: ENSMUST00000043551

SMART Domains

Protein: ENSMUSP00000040946
Gene: ENSMUSG00000040351

Domain	Start	End	E-Value	Type
ANK	45	75	7.08e-1	SMART
ANK	145	174	2.32e-5	SMART
low complexity region	209	219	N/A	INTRINSIC
low complexity region	304	319	N/A	INTRINSIC
RING	334	382	9.73e-2	SMART
IBR	403	479	8.72e-12	SMART
IBR	502	566	2.59e-5	SMART
RING	520	644	2.36e0	SMART
low complexity region	764	773	N/A	INTRINSIC
low complexity region	808	822	N/A	INTRINSIC
UIM	846	865	3.62e-1	SMART
low complexity region	905	917	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000080085

SMART Domains

Protein: ENSMUSP00000078985
Gene: ENSMUSG00000000600

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 benign
Transcript: ENSMUST00000171023

SMART Domains

Protein: ENSMUSP00000132375
Gene: ENSMUSG00000000600

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: ENSMUST00000196098

Predicted Effect

probably null
Transcript: ENSMUST00000198079
AA Change: C15*

SMART Domains

Protein: ENSMUSP00000142657
Gene: ENSMUSG00000000600
AA Change: C15*

Domain	Start	End	E-Value	Type
PDB:4DX8\|K	20	132	4e-62	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199475

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199763

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199845

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

Predicted Effect

probably benign
Transcript: ENSMUST00000200386

SMART Domains

Protein: ENSMUSP00000143559
Gene: ENSMUSG00000000600

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

100% (80/80)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933428M09Rik	G	T	X: 138,080,282 (GRCm39)	G16*	probably null	Het
Abhd11	T	A	5: 135,040,398 (GRCm39)	W144R	probably damaging	Het
Abhd2	A	G	7: 78,973,378 (GRCm39)	E119G	probably benign	Het
Acbd3	A	G	1: 180,553,938 (GRCm39)	Y91C	probably benign	Het
Aox4	C	A	1: 58,285,400 (GRCm39)	S628*	probably null	Het
Bahcc1	T	A	11: 120,165,285 (GRCm39)	Y905*	probably null	Het
Baiap2l2	T	G	15: 79,154,687 (GRCm39)	S211R	probably benign	Het
Cab39l	T	A	14: 59,764,258 (GRCm39)	Y206*	probably null	Het
Cacna1i	A	T	15: 80,275,041 (GRCm39)	T1830S	possibly damaging	Het
Catsperg1	A	T	7: 28,889,723 (GRCm39)	L793*	probably null	Het
Cdh10	G	T	15: 18,966,108 (GRCm39)	V198F	probably damaging	Het
Cenpk	A	T	13: 104,385,917 (GRCm39)	I271F	probably damaging	Het
Chchd4	A	T	6: 91,442,260 (GRCm39)	C53S	probably damaging	Het
Cluh	T	G	11: 74,550,531 (GRCm39)	C252W	probably damaging	Het
Cmklr1	G	T	5: 113,752,710 (GRCm39)	A97E	probably damaging	Het
Coil	C	A	11: 88,871,987 (GRCm39)	A116D	possibly damaging	Het
Eif1ad9	A	G	12: 88,296,196 (GRCm39)	H58R	probably benign	Het
F830045P16Rik	C	A	2: 129,305,493 (GRCm39)	V294F	probably damaging	Het
Fgd6	T	A	10: 93,969,939 (GRCm39)	M1196K	possibly damaging	Het
Gabra5	G	A	7: 57,140,604 (GRCm39)	S31L	probably benign	Het
Gm7135	A	T	1: 97,362,790 (GRCm39)		noncoding transcript	Het
Gon4l	C	A	3: 88,794,882 (GRCm39)	T695K	probably damaging	Het
Hectd4	A	G	5: 121,491,614 (GRCm39)	H3684R	possibly damaging	Het
Ica1l	T	A	1: 60,054,917 (GRCm39)	M105L	probably benign	Het
Ift70a1	A	G	2: 75,811,147 (GRCm39)	L312P	probably damaging	Het
Igkv8-24	A	T	6: 70,194,386 (GRCm39)	V7D	probably damaging	Het
Klf10	G	A	15: 38,296,331 (GRCm39)	R420W	probably damaging	Het
Klrc2	C	A	6: 129,633,843 (GRCm39)	W177C	probably damaging	Het
Lamc1	C	A	1: 153,103,442 (GRCm39)	V1375L	probably damaging	Het
Lrrc37a	C	T	11: 103,347,780 (GRCm39)	V2972I	unknown	Het
Mapkapk5	T	C	5: 121,672,492 (GRCm39)	D13G	probably damaging	Het
Mcph1	T	A	8: 18,838,489 (GRCm39)	L804I	probably damaging	Het
Mdn1	C	T	4: 32,723,690 (GRCm39)	P2542L	probably damaging	Het
Mrto4	A	G	4: 139,075,770 (GRCm39)	Y119H	probably benign	Het
Nbeal2	G	T	9: 110,461,158 (GRCm39)	A1635E	possibly damaging	Het
Ndc1	T	C	4: 107,246,773 (GRCm39)	S399P	probably benign	Het
Ndufv2	A	G	17: 66,394,424 (GRCm39)	I147T	probably damaging	Het
Neb	C	A	2: 52,052,142 (GRCm39)	E382*	probably null	Het
Nhsl3	C	T	4: 129,116,478 (GRCm39)	E729K	probably damaging	Het
Nme8	T	A	13: 19,880,861 (GRCm39)	I32F	probably damaging	Het
Obox5	T	A	7: 15,491,793 (GRCm39)		probably null	Het
Or8g23	A	G	9: 38,971,065 (GRCm39)	V299A	probably benign	Het
Pcdhb19	A	T	18: 37,630,939 (GRCm39)	M245L	probably benign	Het
Pex5l	A	T	3: 33,061,477 (GRCm39)		probably null	Het
Phrf1	T	G	7: 140,840,616 (GRCm39)	D1270E	probably damaging	Het
Pik3r5	A	G	11: 68,382,790 (GRCm39)	K277E	possibly damaging	Het
Ppan	T	C	9: 20,802,221 (GRCm39)	V204A	possibly damaging	Het
Ppp1r9a	A	T	6: 5,115,367 (GRCm39)	N830I	probably damaging	Het
Pxn	C	G	5: 115,682,974 (GRCm39)	A92G	probably benign	Het
Qsox1	A	G	1: 155,666,742 (GRCm39)	V249A	probably benign	Het
Rgl3	T	A	9: 21,898,944 (GRCm39)	*88C	probably null	Het
Rps6kc1	A	T	1: 190,515,802 (GRCm39)	W975R	probably damaging	Het
Sash1	G	T	10: 8,656,368 (GRCm39)	A208D	possibly damaging	Het
Simc1	A	T	13: 54,687,709 (GRCm39)		probably benign	Het
Sox7	T	C	14: 64,185,449 (GRCm39)	Y162H	probably damaging	Het
Srp72	T	A	5: 77,128,375 (GRCm39)	L171H	probably damaging	Het
Stab1	T	A	14: 30,881,476 (GRCm39)	Y577F	probably benign	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Tagln	T	C	9: 45,842,177 (GRCm39)	T139A	probably benign	Het
Thbs3	T	C	3: 89,130,471 (GRCm39)		probably null	Het
Tmem216	G	A	19: 10,529,155 (GRCm39)	T131M	possibly damaging	Het
Tmprss11c	A	G	5: 86,404,249 (GRCm39)	V142A	probably benign	Het
Trarg1	C	G	11: 76,585,102 (GRCm39)	A164G	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubtf	T	C	11: 102,199,128 (GRCm39)	M511V	probably null	Het
Ugt2b36	A	T	5: 87,214,114 (GRCm39)	V510E	probably damaging	Het
Vars2	G	C	17: 35,969,041 (GRCm39)	P887A	probably damaging	Het
Vmn2r80	A	G	10: 79,004,980 (GRCm39)	M206V	possibly damaging	Het
Zbtb5	A	G	4: 44,993,990 (GRCm39)	F465L	probably benign	Het
Zfp119a	G	A	17: 56,172,425 (GRCm39)	Q473*	probably null	Het
Zfp607a	T	G	7: 27,577,269 (GRCm39)	I113R	probably damaging	Het
Zfp998	A	T	13: 66,581,787 (GRCm39)	L28H	probably damaging	Het
Zmym6	C	A	4: 126,999,167 (GRCm39)	N450K	possibly 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
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
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

Posted On

2017-02-14