Mutagenetix > Incidental Mutation

Incidental Mutation 'R9328:Krit1'

706638

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9328 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3853156-3894515 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 3862577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000078985 (fasta)

Gene Model

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

AlphaFold

Q6S5J6

Predicted Effect

probably null
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

probably benign
Transcript: ENSMUST00000198079

SMART Domains

Protein: ENSMUSP00000142657
Gene: ENSMUSG00000000600

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

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

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C10Rik	A	G	7: 37,894,272 (GRCm39)	T102A	probably benign	Het
1700109H08Rik	A	G	5: 3,632,161 (GRCm39)	K164E	possibly damaging	Het
2610042L04Rik	C	T	14: 4,350,013 (GRCm38)	Q74*	probably null	Het
Aadacl4fm4	T	A	4: 144,401,256 (GRCm39)	H76L	probably benign	Het
Adgrb2	T	A	4: 129,915,363 (GRCm39)	M1381K	probably damaging	Het
Adgrv1	C	A	13: 81,620,523 (GRCm39)	D3975Y	probably damaging	Het
Ano10	C	T	9: 122,090,168 (GRCm39)	E382K	possibly damaging	Het
Ascc3	T	C	10: 50,535,015 (GRCm39)	V636A	probably damaging	Het
AU040320	T	C	4: 126,729,332 (GRCm39)	V498A	possibly damaging	Het
Bahcc1	C	T	11: 120,165,885 (GRCm39)	T1047I	possibly damaging	Het
BC004004	A	T	17: 29,501,682 (GRCm39)	T74S	possibly damaging	Het
Bend3	A	G	10: 43,387,419 (GRCm39)	D604G	possibly damaging	Het
Brinp3	T	A	1: 146,707,455 (GRCm39)	V373E	probably damaging	Het
Bsph2	A	T	7: 13,290,764 (GRCm39)	D38E	probably benign	Het
Castor1	T	C	11: 4,170,423 (GRCm39)	F140L	probably benign	Het
Catsperd	A	G	17: 56,965,074 (GRCm39)	I474V	possibly damaging	Het
Ccdc180	A	G	4: 45,902,447 (GRCm39)	N292S	possibly damaging	Het
Cd1d1	A	T	3: 86,905,459 (GRCm39)	V178E	possibly damaging	Het
Cdca2	T	A	14: 67,931,131 (GRCm39)	R521W	probably damaging	Het
Champ1	A	G	8: 13,929,392 (GRCm39)	K517E	probably damaging	Het
Chrna9	T	C	5: 66,128,569 (GRCm39)	F259S	probably damaging	Het
Chuk	A	T	19: 44,085,422 (GRCm39)	C241*	probably null	Het
Clns1a	A	G	7: 97,363,240 (GRCm39)	Y204C	probably benign	Het
Cplane1	A	G	15: 8,215,692 (GRCm39)	D416G	probably damaging	Het
Cyp2j7	A	T	4: 96,115,869 (GRCm39)	N192K	probably damaging	Het
Ddr2	A	G	1: 169,829,504 (GRCm39)	V250A	probably benign	Het
Dlgap2	A	G	8: 14,777,441 (GRCm39)	S229G	probably damaging	Het
Dmrt1	A	T	19: 25,523,231 (GRCm39)	H194L	probably damaging	Het
Dock7	A	T	4: 98,968,064 (GRCm39)	F138I		Het
Dsg2	T	C	18: 20,715,847 (GRCm39)	V263A	possibly damaging	Het
Dusp16	A	G	6: 134,716,902 (GRCm39)	L135P	probably damaging	Het
Dysf	A	G	6: 84,050,895 (GRCm39)	N414S	probably damaging	Het
Efhc1	A	G	1: 21,030,598 (GRCm39)	Y177C	probably damaging	Het
Fam83e	A	T	7: 45,372,912 (GRCm39)	R174S	probably benign	Het
Fgf4	C	T	7: 144,416,664 (GRCm39)	L199F	probably damaging	Het
Fignl2	A	G	15: 100,951,271 (GRCm39)	L337P	unknown	Het
Gm4353	T	C	7: 115,682,724 (GRCm39)	R286G	probably damaging	Het
Gm5142	T	C	14: 59,416,126 (GRCm39)	S11G	probably benign	Het
Gpr151	A	G	18: 42,712,270 (GRCm39)	V136A	probably damaging	Het
Ift80	T	A	3: 68,847,483 (GRCm39)	I338F	probably damaging	Het
Itgb4	A	G	11: 115,880,625 (GRCm39)	S693G	probably benign	Het
Kif13a	T	A	13: 46,951,838 (GRCm39)	I812F	probably damaging	Het
Mapk6	T	C	9: 75,305,252 (GRCm39)	D55G	possibly damaging	Het
Matn3	A	G	12: 9,002,033 (GRCm39)	I82V	possibly damaging	Het
Mecom	T	A	3: 30,063,994 (GRCm39)	D32V	unknown	Het
Nacad	T	C	11: 6,552,417 (GRCm39)	H258R	possibly damaging	Het
Ndufaf5	T	A	2: 140,030,752 (GRCm39)	S213T	possibly damaging	Het
Nphp1	C	T	2: 127,582,892 (GRCm39)	D674N	possibly damaging	Het
Nsmaf	A	G	4: 6,426,412 (GRCm39)	L250P	probably damaging	Het
Ogdh	T	C	11: 6,297,838 (GRCm39)	S571P	probably benign	Het
Or1e31	T	C	11: 73,690,478 (GRCm39)	Y35C	probably damaging	Het
Or51i2	T	A	7: 103,689,268 (GRCm39)	D88E		Het
Or8g27	T	C	9: 39,129,175 (GRCm39)	I174T	probably damaging	Het
Osbpl11	A	G	16: 33,047,245 (GRCm39)	I403V	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pira13	T	A	7: 3,827,580 (GRCm39)	R192S	unknown	Het
Plat	A	G	8: 23,268,133 (GRCm39)	R300G	probably damaging	Het
Ppid	T	C	3: 79,505,059 (GRCm39)	I134T	probably damaging	Het
Rad51ap2	A	G	12: 11,507,772 (GRCm39)	I565V	probably benign	Het
Rasa1	T	C	13: 85,403,575 (GRCm39)		probably null	Het
Sema4a	C	T	3: 88,345,613 (GRCm39)	W490*	probably null	Het
Septin3	A	G	15: 82,173,439 (GRCm39)	Y257C	probably damaging	Het
Sh3rf2	C	A	18: 42,274,161 (GRCm39)	F442L	probably benign	Het
Sipa1l1	A	G	12: 82,388,792 (GRCm39)	I339M	possibly damaging	Het
Six2	T	C	17: 85,995,196 (GRCm39)	N62S	possibly damaging	Het
Slc44a5	T	C	3: 153,964,678 (GRCm39)	I526T	probably benign	Het
Smarca5	T	C	8: 81,447,378 (GRCm39)	S402G	probably benign	Het
Son	T	A	16: 91,452,645 (GRCm39)	V464E	possibly damaging	Het
Sorcs3	A	G	19: 48,785,950 (GRCm39)	K1144E	probably damaging	Het
Stxbp6	A	G	12: 44,902,659 (GRCm39)	L204P	probably damaging	Het
Tchh	A	G	3: 93,351,570 (GRCm39)	R337G	unknown	Het
Tgm4	T	C	9: 122,885,697 (GRCm39)	V413A	possibly damaging	Het
Tmem131	G	A	1: 36,858,236 (GRCm39)	Q704*	probably null	Het
Tmpo	T	C	10: 90,998,825 (GRCm39)	K321E	probably damaging	Het
Trim75	G	T	8: 65,435,315 (GRCm39)	N378K	probably benign	Het
Tspan18	T	A	2: 93,036,065 (GRCm39)	I227F	probably benign	Het
Ttn	C	T	2: 76,541,526 (GRCm39)	W33820*	probably null	Het
Urb2	T	A	8: 124,774,034 (GRCm39)	Y1522N	probably damaging	Het
Zbtb40	T	C	4: 136,745,620 (GRCm39)	N138D	probably benign	Het
Zfp715	A	T	7: 42,947,328 (GRCm39)	H877Q	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
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
R9402:Krit1	UTSW	5	3,872,210 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TTCTCCCCTTGAACGGATAAAG -3'
(R):5'- GGAGCTCCGAGACCAAAGTATG -3'

Sequencing Primer
(F):5'- GACAAATGTCATAAACCCTGCGTATG -3'
(R):5'- AGCCTCAGATGTTTGACT -3'

Posted On

2022-04-18