Incidental Mutation 'IGL03385:Krit1'
| ID |
420844 |
| 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 # |
IGL03385
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
3853156-3894515 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3857452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 86
(I86V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143776
(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 |
possibly damaging
Transcript: ENSMUST00000080085
AA Change: I86V
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000078985
Gene: ENSMUSG00000000600
AA Change: I86V
| 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 |
possibly damaging
Transcript: ENSMUST00000171023
AA Change: I86V
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000132375
Gene: ENSMUSG00000000600
AA Change: I86V
| 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 benign
Transcript: ENSMUST00000198079
AA Change: I106V
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000142657
Gene: ENSMUSG00000000600
AA Change: I106V
| 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 |
possibly damaging
Transcript: ENSMUST00000200577
AA Change: I86V
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143776
Gene: ENSMUSG00000000600
AA Change: I86V
| 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
AA Change: I86V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000143559
Gene: ENSMUSG00000000600
AA Change: I86V
| 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 |
noncoding transcript
Transcript: ENSMUST00000199845
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bbs9 |
A |
G |
9: 22,555,044 (GRCm39) |
T444A |
probably benign |
Het |
| Cdh20 |
A |
G |
1: 109,993,516 (GRCm39) |
T324A |
possibly damaging |
Het |
| Col14a1 |
C |
A |
15: 55,273,600 (GRCm39) |
T723K |
unknown |
Het |
| Col14a1 |
G |
A |
15: 55,335,104 (GRCm39) |
G1513S |
unknown |
Het |
| Col1a2 |
C |
A |
6: 4,539,612 (GRCm39) |
N1293K |
unknown |
Het |
| Ctdp1 |
T |
C |
18: 80,493,133 (GRCm39) |
D454G |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| G3bp2 |
A |
G |
5: 92,216,254 (GRCm39) |
V94A |
probably damaging |
Het |
| Gm973 |
A |
G |
1: 59,621,629 (GRCm39) |
S590G |
probably benign |
Het |
| Gon4l |
A |
T |
3: 88,814,850 (GRCm39) |
T1940S |
probably benign |
Het |
| Itk |
G |
A |
11: 46,222,688 (GRCm39) |
Q594* |
probably null |
Het |
| Kcnc2 |
G |
A |
10: 112,291,691 (GRCm39) |
C293Y |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,831,565 (GRCm39) |
L1663* |
probably null |
Het |
| Moxd2 |
T |
C |
6: 40,855,952 (GRCm39) |
T546A |
probably damaging |
Het |
| Myo7b |
G |
T |
18: 32,122,630 (GRCm39) |
Q717K |
probably benign |
Het |
| Or2a51 |
T |
C |
6: 43,178,914 (GRCm39) |
V112A |
probably benign |
Het |
| Or2ad1 |
A |
G |
13: 21,326,657 (GRCm39) |
V190A |
probably benign |
Het |
| Ostm1 |
A |
C |
10: 42,574,140 (GRCm39) |
N123H |
probably damaging |
Het |
| Pcdh10 |
A |
C |
3: 45,335,947 (GRCm39) |
S754R |
possibly damaging |
Het |
| Pomt2 |
A |
T |
12: 87,163,330 (GRCm39) |
L613Q |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,376,208 (GRCm39) |
N351I |
probably damaging |
Het |
| Serpinb9 |
T |
C |
13: 33,191,979 (GRCm39) |
|
probably benign |
Het |
| Slc12a4 |
T |
A |
8: 106,677,496 (GRCm39) |
|
probably benign |
Het |
| Smgc |
T |
A |
15: 91,726,181 (GRCm39) |
H42Q |
possibly damaging |
Het |
| Tor1a |
A |
G |
2: 30,853,739 (GRCm39) |
V197A |
possibly damaging |
Het |
| Ttc4 |
A |
G |
4: 106,525,397 (GRCm39) |
S246P |
probably benign |
Het |
| Tti1 |
G |
A |
2: 157,834,945 (GRCm39) |
A1005V |
possibly damaging |
Het |
| Ugt3a1 |
A |
T |
15: 9,338,824 (GRCm39) |
I63F |
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 |
|
|
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 |
Incidental Mutation