Incidental Mutation 'IGL03280:Krit1'
ID |
415581 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Krit1
|
Ensembl Gene |
ENSMUSG00000000600 |
Gene Name |
KRIT1, ankyrin repeat containing |
Synonyms |
A630036P20Rik, Krit1B, 2010007K12Rik, Ccm1, Krit1A, Krit1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03280
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
3853156-3894515 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 3861248 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143776
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080085]
[ENSMUST00000171023]
[ENSMUST00000198079]
[ENSMUST00000200577]
[ENSMUST00000200386]
|
AlphaFold |
Q6S5J6 |
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 |
noncoding transcript
Transcript: ENSMUST00000197611
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197742
|
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 |
noncoding transcript
Transcript: ENSMUST00000199475
|
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 |
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 |
|
Coding Region Coverage |
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asb4 |
T |
C |
6: 5,423,416 (GRCm39) |
S188P |
probably benign |
Het |
Bbs5 |
A |
G |
2: 69,497,315 (GRCm39) |
|
probably benign |
Het |
Cdh13 |
G |
T |
8: 120,040,873 (GRCm39) |
G693W |
probably damaging |
Het |
Cdh20 |
T |
A |
1: 110,036,498 (GRCm39) |
Y559* |
probably null |
Het |
Cemip |
G |
A |
7: 83,636,538 (GRCm39) |
|
probably benign |
Het |
Crem |
A |
G |
18: 3,273,415 (GRCm39) |
|
probably benign |
Het |
Crygf |
A |
G |
1: 65,967,329 (GRCm39) |
Y151C |
probably damaging |
Het |
Dcp1b |
T |
C |
6: 119,157,019 (GRCm39) |
|
probably benign |
Het |
Fanca |
A |
G |
8: 124,043,198 (GRCm39) |
|
probably benign |
Het |
Fkbp15 |
A |
C |
4: 62,221,504 (GRCm39) |
|
probably benign |
Het |
Gabrp |
C |
T |
11: 33,502,616 (GRCm39) |
R416Q |
probably benign |
Het |
Iho1 |
T |
C |
9: 108,282,099 (GRCm39) |
S530G |
possibly damaging |
Het |
Impg2 |
T |
A |
16: 56,088,631 (GRCm39) |
Y1052* |
probably null |
Het |
Isg15 |
T |
C |
4: 156,284,319 (GRCm39) |
M70V |
probably benign |
Het |
Lrrn3 |
T |
C |
12: 41,504,146 (GRCm39) |
D57G |
probably damaging |
Het |
Macrod1 |
A |
G |
19: 7,174,937 (GRCm39) |
E309G |
possibly damaging |
Het |
Notch1 |
A |
T |
2: 26,367,886 (GRCm39) |
|
probably benign |
Het |
Nptx1 |
T |
C |
11: 119,435,555 (GRCm39) |
T254A |
probably damaging |
Het |
Or12e9 |
A |
T |
2: 87,202,467 (GRCm39) |
D197V |
probably damaging |
Het |
Pigm |
A |
G |
1: 172,204,420 (GRCm39) |
Y52C |
probably damaging |
Het |
Pramel27 |
A |
T |
4: 143,578,489 (GRCm39) |
T250S |
possibly damaging |
Het |
Rif1 |
A |
G |
2: 52,002,611 (GRCm39) |
T2022A |
probably benign |
Het |
Rint1 |
T |
A |
5: 24,022,076 (GRCm39) |
L646Q |
probably damaging |
Het |
Rpe65 |
A |
T |
3: 159,309,978 (GRCm39) |
I84F |
probably damaging |
Het |
Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
Scnn1a |
T |
C |
6: 125,319,744 (GRCm39) |
|
probably benign |
Het |
Selenop |
T |
C |
15: 3,310,104 (GRCm39) |
|
probably benign |
Het |
Siglecf |
T |
G |
7: 43,005,354 (GRCm39) |
V438G |
probably benign |
Het |
St8sia4 |
T |
A |
1: 95,581,499 (GRCm39) |
|
probably benign |
Het |
Tfeb |
T |
C |
17: 48,096,862 (GRCm39) |
F43S |
probably benign |
Het |
Tgm6 |
A |
G |
2: 129,980,851 (GRCm39) |
Y216C |
probably damaging |
Het |
Try10 |
T |
A |
6: 41,331,154 (GRCm39) |
V10E |
probably benign |
Het |
Ttn |
A |
T |
2: 76,728,811 (GRCm39) |
C1234* |
probably null |
Het |
Ugt2a3 |
G |
A |
5: 87,484,439 (GRCm39) |
P195L |
probably damaging |
Het |
Usp24 |
T |
G |
4: 106,237,627 (GRCm39) |
I1095R |
probably damaging |
Het |
Usp34 |
C |
T |
11: 23,304,897 (GRCm39) |
H377Y |
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 |
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 |
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 |
|
Posted On |
2016-08-02 |