Mutagenetix > Incidental Mutation

Incidental Mutation 'R5682:Krit1'

443096

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

043318-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5682 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3853156-3894515 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3880737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 565 (N565K)

Ref Sequence

ENSEMBL: ENSMUSP00000132375 (fasta)

Gene Model

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

AlphaFold

Q6S5J6

Predicted Effect

probably damaging
Transcript: ENSMUST00000080085
AA Change: N565K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000078985
Gene: ENSMUSG00000000600
AA Change: N565K

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 damaging
Transcript: ENSMUST00000171023
AA Change: N565K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132375
Gene: ENSMUSG00000000600
AA Change: N565K

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: ENSMUST00000199845

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200004

Predicted Effect

probably benign
Transcript: ENSMUST00000200386
AA Change: N517K

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143559
Gene: ENSMUSG00000000600
AA Change: N517K

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

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.4%
20x: 95.3%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	T	11: 94,283,723 (GRCm39)	S7T	probably benign	Het
Acot4	G	A	12: 84,085,576 (GRCm39)	V98M	probably damaging	Het
Acsm2	A	T	7: 119,162,774 (GRCm39)	N41I	probably benign	Het
Adamtsl3	A	T	7: 82,255,758 (GRCm39)	N1590I	probably damaging	Het
Ank3	G	A	10: 69,729,347 (GRCm39)	G714R	probably damaging	Het
Armh4	T	C	14: 49,989,043 (GRCm39)	D642G	probably damaging	Het
Ash1l	G	A	3: 88,914,914 (GRCm39)	R1848Q	probably damaging	Het
Atp1a4	A	T	1: 172,081,730 (GRCm39)	Y141N	probably damaging	Het
Atxn3	A	T	12: 101,924,406 (GRCm39)	I1N	probably damaging	Het
Avil	A	C	10: 126,849,973 (GRCm39)	Q608P	probably damaging	Het
Axin1	T	C	17: 26,406,775 (GRCm39)	V456A	probably benign	Het
Cacna1g	A	G	11: 94,349,940 (GRCm39)	L635P	probably damaging	Het
Card11	G	A	5: 140,888,666 (GRCm39)	Q231*	probably null	Het
Ccdc162	G	A	10: 41,432,799 (GRCm39)	R500*	probably null	Het
Cdh24	T	C	14: 54,874,805 (GRCm39)	D400G	probably damaging	Het
Cep112	T	C	11: 108,361,138 (GRCm39)	L164P	probably damaging	Het
Corin	A	G	5: 72,579,497 (GRCm39)	S224P	possibly damaging	Het
Csgalnact2	T	C	6: 118,097,953 (GRCm39)	Y371C	probably damaging	Het
Cspg4	A	T	9: 56,793,480 (GRCm39)	E405V	probably benign	Het
Ctnna3	T	A	10: 64,709,085 (GRCm39)	M708K	probably damaging	Het
Cyp7a1	T	A	4: 6,268,429 (GRCm39)	Y432F	probably benign	Het
Dcaf11	T	A	14: 55,800,883 (GRCm39)	V113E	probably damaging	Het
Dhx29	T	C	13: 113,067,383 (GRCm39)	I88T	probably damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Elmo2	A	G	2: 165,139,330 (GRCm39)	F406L	probably damaging	Het
Eps15l1	G	A	8: 73,125,592 (GRCm39)	Q648*	probably null	Het
Fam171a1	G	A	2: 3,227,126 (GRCm39)	R753Q	probably damaging	Het
Figla	T	A	6: 85,995,604 (GRCm39)	V86E	probably damaging	Het
Galnt7	C	A	8: 58,036,967 (GRCm39)	E141*	probably null	Het
Garnl3	A	G	2: 32,944,185 (GRCm39)	Y125H	probably damaging	Het
Gnb5	A	G	9: 75,234,523 (GRCm39)	D74G	probably damaging	Het
Grk1	A	T	8: 13,464,351 (GRCm39)	I408F	possibly damaging	Het
Has1	A	T	17: 18,064,425 (GRCm39)	W405R	possibly damaging	Het
Hdac5	A	G	11: 102,104,749 (GRCm39)		probably benign	Het
Helq	T	A	5: 100,933,170 (GRCm39)	M555L	probably benign	Het
Hipk2	T	C	6: 38,714,408 (GRCm39)	N556S	possibly damaging	Het
Htr7	C	A	19: 35,947,271 (GRCm39)	A248S	probably damaging	Het
Ing3	T	C	6: 21,968,949 (GRCm39)	S144P	probably damaging	Het
Itgb1	G	A	8: 129,453,549 (GRCm39)		probably null	Het
Kcnh4	A	T	11: 100,640,628 (GRCm39)	M466K	possibly damaging	Het
Limk1	A	C	5: 134,694,059 (GRCm39)		probably null	Het
Lrif1	T	C	3: 106,639,884 (GRCm39)	I323T	possibly damaging	Het
Macf1	T	C	4: 123,328,552 (GRCm39)	E1811G	probably damaging	Het
Mctp2	A	C	7: 71,895,207 (GRCm39)		probably null	Het
Mmp21	A	G	7: 133,276,358 (GRCm39)	I495T	probably benign	Het
Mpz	A	T	1: 170,986,463 (GRCm39)	T126S	possibly damaging	Het
Napsa	A	G	7: 44,234,768 (GRCm39)	Y301C	possibly damaging	Het
Ncbp1	T	A	4: 46,170,474 (GRCm39)		probably benign	Het
Nup160	A	G	2: 90,510,155 (GRCm39)	E47G	probably benign	Het
Or8b56	A	G	9: 38,739,424 (GRCm39)	I146V	probably benign	Het
Pcdha11	A	G	18: 37,144,502 (GRCm39)	K198E	probably damaging	Het
Pcdha3	A	G	18: 37,081,040 (GRCm39)	D594G	probably damaging	Het
Pdcd5	G	A	7: 35,346,613 (GRCm39)		probably benign	Het
Pdhx	A	T	2: 102,865,685 (GRCm39)	S166T	probably benign	Het
Pigc	A	G	1: 161,798,516 (GRCm39)	Y166C	probably damaging	Het
Prkch	C	T	12: 73,744,724 (GRCm39)	H246Y	probably damaging	Het
Ptk2	A	T	15: 73,134,413 (GRCm39)	L562*	probably null	Het
Rab3ip	C	T	10: 116,743,008 (GRCm39)	W439*	probably null	Het
Rasef	T	A	4: 73,659,208 (GRCm39)	R435*	probably null	Het
Rnf103	C	T	6: 71,485,708 (GRCm39)		probably benign	Het
Rtel1	T	C	2: 180,991,765 (GRCm39)	F388L	probably benign	Het
Sds	A	C	5: 120,621,784 (GRCm39)	S309R	possibly damaging	Het
Sgip1	T	A	4: 102,824,847 (GRCm39)	D736E	possibly damaging	Het
Sgms2	A	G	3: 131,118,611 (GRCm39)	Y291H	probably damaging	Het
Sgsm3	A	G	15: 80,895,661 (GRCm39)		probably null	Het
Siglec1	T	A	2: 130,925,930 (GRCm39)	I259F	probably damaging	Het
Sik2	G	A	9: 50,828,382 (GRCm39)	P220L	probably damaging	Het
Slc29a3	A	G	10: 60,551,991 (GRCm39)	V351A	probably benign	Het
Slc36a3	A	G	11: 55,016,489 (GRCm39)	S369P	probably benign	Het
Srgap1	A	T	10: 121,640,919 (GRCm39)	M649K	probably damaging	Het
Thnsl1	A	G	2: 21,216,879 (GRCm39)	E211G	possibly damaging	Het
Tmprss9	A	G	10: 80,733,207 (GRCm39)		probably null	Het
Tpgs1	G	A	10: 79,511,421 (GRCm39)	V188M	probably damaging	Het
Vmn1r201	G	T	13: 22,659,355 (GRCm39)	V190F	probably damaging	Het
Vmn1r64	A	T	7: 5,886,622 (GRCm39)	L307Q	possibly damaging	Het
Wbp11	T	C	6: 136,791,252 (GRCm39)		probably benign	Het
Wdr35	A	G	12: 9,031,125 (GRCm39)	Y134C	probably damaging	Het
Zan	G	T	5: 137,412,521 (GRCm39)	C3263*	probably null	Het
Zc3h12c	G	T	9: 52,037,876 (GRCm39)	D301E	probably damaging	Het
Zfp365	A	C	10: 67,745,637 (GRCm39)	L47R	probably damaging	Het
Zmym6	C	T	4: 126,998,200 (GRCm39)	P412L	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
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
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'- CCCCTGCTCTAGTATAGTAATAGC -3'
(R):5'- GGTGGGATTCTTAAATATCTGACTC -3'

Sequencing Primer
(F):5'- AGCATACACACACAGTTATATAGTTG -3'
(R):5'- CTGAGACAAGGTCTTCCTATGCAG -3'

Posted On

2016-11-09