Incidental Mutation 'R6338:Krit1'
ID |
514315 |
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 |
044492-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6338 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
3853156-3894515 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 3886857 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 702
(M702R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078985
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080085]
[ENSMUST00000171023]
[ENSMUST00000200386]
[ENSMUST00000200577]
|
AlphaFold |
Q6S5J6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000080085
AA Change: M702R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000078985 Gene: ENSMUSG00000000600 AA Change: M702R
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: ENSMUST00000199845
|
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: 99.7%
- 10x: 98.1%
- 20x: 93.8%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acer3 |
T |
C |
7: 97,906,922 (GRCm39) |
Y128C |
probably damaging |
Het |
Adam30 |
T |
G |
3: 98,068,857 (GRCm39) |
I102S |
probably damaging |
Het |
Adcy8 |
A |
T |
15: 64,792,466 (GRCm39) |
D163E |
possibly damaging |
Het |
Agrn |
C |
T |
4: 156,255,042 (GRCm39) |
E1614K |
probably benign |
Het |
Aldh16a1 |
A |
T |
7: 44,791,385 (GRCm39) |
W107R |
probably damaging |
Het |
Arfgef2 |
A |
G |
2: 166,687,490 (GRCm39) |
D238G |
probably damaging |
Het |
Arhgap11a |
T |
C |
2: 113,664,070 (GRCm39) |
S738G |
probably benign |
Het |
Arid5b |
C |
A |
10: 67,934,391 (GRCm39) |
G504* |
probably null |
Het |
Carmil3 |
T |
C |
14: 55,737,306 (GRCm39) |
V763A |
possibly damaging |
Het |
Cd209e |
T |
A |
8: 3,899,154 (GRCm39) |
D186V |
probably damaging |
Het |
Cdh23 |
T |
C |
10: 60,248,930 (GRCm39) |
D882G |
probably damaging |
Het |
Cdh4 |
T |
C |
2: 179,532,605 (GRCm39) |
V689A |
probably damaging |
Het |
Cntn6 |
T |
A |
6: 104,703,100 (GRCm39) |
V174E |
probably damaging |
Het |
Col7a1 |
C |
T |
9: 108,785,701 (GRCm39) |
T390M |
unknown |
Het |
Crybg1 |
T |
C |
10: 43,868,505 (GRCm39) |
D1017G |
probably damaging |
Het |
Csmd1 |
T |
G |
8: 15,982,492 (GRCm39) |
K2725T |
possibly damaging |
Het |
Dnaaf2 |
T |
C |
12: 69,244,896 (GRCm39) |
E55G |
probably damaging |
Het |
Efcab3 |
C |
T |
11: 104,734,034 (GRCm39) |
R2027* |
probably null |
Het |
Fam13a |
A |
G |
6: 58,930,484 (GRCm39) |
V476A |
probably damaging |
Het |
Fem1b |
A |
T |
9: 62,704,293 (GRCm39) |
D322E |
probably benign |
Het |
Frmpd1 |
G |
A |
4: 45,274,489 (GRCm39) |
V466I |
probably benign |
Het |
Gm20671 |
A |
T |
5: 32,977,991 (GRCm39) |
D1794E |
probably damaging |
Het |
Gpatch2 |
G |
T |
1: 186,957,711 (GRCm39) |
R22L |
probably damaging |
Het |
Gtf2h1 |
A |
G |
7: 46,465,880 (GRCm39) |
T450A |
probably benign |
Het |
Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
Krt34 |
T |
C |
11: 99,929,316 (GRCm39) |
N298S |
probably benign |
Het |
Lrrcc1 |
T |
A |
3: 14,612,376 (GRCm39) |
N376K |
possibly damaging |
Het |
Myo15a |
A |
G |
11: 60,368,959 (GRCm39) |
E573G |
probably damaging |
Het |
Or11j4 |
T |
A |
14: 50,630,857 (GRCm39) |
F215I |
possibly damaging |
Het |
Or1af1 |
A |
T |
2: 37,109,834 (GRCm39) |
D111V |
probably damaging |
Het |
Or1e31 |
A |
T |
11: 73,690,145 (GRCm39) |
L146Q |
possibly damaging |
Het |
Or2y17 |
A |
G |
11: 49,231,694 (GRCm39) |
S112G |
probably benign |
Het |
Or4c119 |
T |
A |
2: 88,986,715 (GRCm39) |
K268I |
probably damaging |
Het |
Or56b2 |
T |
A |
7: 104,337,378 (GRCm39) |
V52E |
possibly damaging |
Het |
Phf20 |
A |
T |
2: 156,115,606 (GRCm39) |
Q309L |
possibly damaging |
Het |
Plcd1 |
G |
A |
9: 118,904,059 (GRCm39) |
R292C |
probably damaging |
Het |
Pold3 |
A |
G |
7: 99,737,312 (GRCm39) |
V342A |
possibly damaging |
Het |
Polr2a |
A |
T |
11: 69,630,505 (GRCm39) |
|
probably null |
Het |
Ptprcap |
A |
G |
19: 4,206,223 (GRCm39) |
E102G |
probably benign |
Het |
Rab11fip5 |
T |
C |
6: 85,318,360 (GRCm39) |
E843G |
possibly damaging |
Het |
Rai14 |
T |
C |
15: 10,575,062 (GRCm39) |
D632G |
probably damaging |
Het |
Rnf149 |
A |
T |
1: 39,599,823 (GRCm39) |
C268S |
probably null |
Het |
Slc6a13 |
T |
A |
6: 121,311,798 (GRCm39) |
F392I |
probably damaging |
Het |
Slc7a11 |
C |
T |
3: 50,338,492 (GRCm39) |
|
probably null |
Het |
Slf1 |
T |
A |
13: 77,232,581 (GRCm39) |
|
probably null |
Het |
Stard9 |
G |
A |
2: 120,527,966 (GRCm39) |
V1408I |
probably benign |
Het |
Suclg1 |
T |
C |
6: 73,241,229 (GRCm39) |
I183T |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,205,475 (GRCm39) |
E3497G |
probably benign |
Het |
Tax1bp1 |
C |
T |
6: 52,706,361 (GRCm39) |
R121* |
probably null |
Het |
Tdpoz2 |
C |
T |
3: 93,559,643 (GRCm39) |
V110I |
probably benign |
Het |
Ubn2 |
A |
G |
6: 38,467,649 (GRCm39) |
T788A |
probably benign |
Het |
Unc13c |
T |
A |
9: 73,641,729 (GRCm39) |
I1255F |
probably damaging |
Het |
Usp44 |
G |
T |
10: 93,682,375 (GRCm39) |
R275I |
probably damaging |
Het |
Uspl1 |
A |
G |
5: 149,151,844 (GRCm39) |
N1015D |
probably benign |
Het |
Wbp2nl |
G |
T |
15: 82,183,246 (GRCm39) |
W13C |
possibly damaging |
Het |
Zc3h14 |
T |
A |
12: 98,724,849 (GRCm39) |
D170E |
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 |
|
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'- CCTTCAGGCTCTGTGAAGTTG -3'
(R):5'- GGCTCCTTTAATTAAGAAGGGAATCC -3'
Sequencing Primer
(F):5'- ACAAGGGTCTCATATAGCTGGTCTC -3'
(R):5'- CTAAAGGTTTCCAGGGAAG -3'
|
Posted On |
2018-04-27 |