Incidental Mutation 'R4041:Krit1'
ID |
313874 |
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 |
040966-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4041 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
3853156-3894515 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 3859642 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Proline
at position 110
(R110P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142657
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080085]
[ENSMUST00000171023]
[ENSMUST00000198079]
[ENSMUST00000200386]
[ENSMUST00000200577]
|
AlphaFold |
Q6S5J6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080085
AA Change: R90P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000078985 Gene: ENSMUSG00000000600 AA Change: R90P
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: R90P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000132375 Gene: ENSMUSG00000000600 AA Change: R90P
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: ENSMUST00000197742
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000198079
AA Change: R110P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142657 Gene: ENSMUSG00000000600 AA Change: R110P
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: ENSMUST00000199845
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000200386
AA Change: R90P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143559 Gene: ENSMUSG00000000600 AA Change: R90P
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 damaging
Transcript: ENSMUST00000200577
AA Change: R90P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000143776 Gene: ENSMUSG00000000600 AA Change: R90P
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 |
|
Meta Mutation Damage Score |
0.5146 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
100% (29/29) |
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atf5 |
T |
C |
7: 44,462,921 (GRCm39) |
T68A |
possibly damaging |
Het |
Cage1 |
A |
G |
13: 38,203,153 (GRCm39) |
L637P |
possibly damaging |
Het |
Cfl1 |
T |
C |
19: 5,542,556 (GRCm39) |
I12T |
probably benign |
Het |
Clcn1 |
A |
G |
6: 42,286,902 (GRCm39) |
E653G |
probably damaging |
Het |
Cntnap5a |
C |
A |
1: 116,112,129 (GRCm39) |
P473Q |
probably benign |
Het |
Dnah7b |
T |
C |
1: 46,120,655 (GRCm39) |
S91P |
probably benign |
Het |
Fcgbp |
A |
G |
7: 27,813,404 (GRCm39) |
Q2313R |
probably benign |
Het |
Gpc5 |
A |
T |
14: 115,370,628 (GRCm39) |
Q151L |
probably damaging |
Het |
Hexim1 |
A |
G |
11: 103,007,932 (GRCm39) |
E62G |
probably benign |
Het |
Ifna13 |
A |
G |
4: 88,562,228 (GRCm39) |
F132S |
probably benign |
Het |
Irgm2 |
A |
G |
11: 58,110,956 (GRCm39) |
M228V |
probably benign |
Het |
Klhl41 |
A |
G |
2: 69,501,054 (GRCm39) |
M172V |
probably benign |
Het |
Klk1 |
A |
T |
7: 43,878,986 (GRCm39) |
N260I |
probably damaging |
Het |
Krt7 |
T |
A |
15: 101,321,161 (GRCm39) |
|
probably null |
Het |
Lrrn4cl |
T |
A |
19: 8,829,468 (GRCm39) |
Y149N |
probably damaging |
Het |
Ltbp3 |
G |
T |
19: 5,801,899 (GRCm39) |
C739F |
possibly damaging |
Het |
Mbnl2 |
C |
T |
14: 120,626,486 (GRCm39) |
H239Y |
probably damaging |
Het |
Obscn |
G |
A |
11: 58,942,357 (GRCm39) |
R4942* |
probably null |
Het |
Or2bd2 |
T |
C |
7: 6,443,688 (GRCm39) |
L263P |
probably damaging |
Het |
R3hcc1 |
A |
G |
14: 69,944,111 (GRCm39) |
S45P |
probably damaging |
Het |
Ryr1 |
A |
T |
7: 28,785,356 (GRCm39) |
H1778Q |
possibly damaging |
Het |
Scyl2 |
T |
A |
10: 89,485,914 (GRCm39) |
K558N |
probably damaging |
Het |
Shank1 |
G |
A |
7: 43,991,586 (GRCm39) |
V677M |
unknown |
Het |
Slc39a5 |
T |
C |
10: 128,232,337 (GRCm39) |
M488V |
possibly damaging |
Het |
Styk1 |
A |
T |
6: 131,289,880 (GRCm39) |
|
probably null |
Het |
Styxl2 |
T |
C |
1: 165,927,680 (GRCm39) |
D644G |
probably benign |
Het |
Usp32 |
A |
G |
11: 84,908,565 (GRCm39) |
V1047A |
probably benign |
Het |
Wnt3a |
G |
T |
11: 59,140,470 (GRCm39) |
H349N |
probably damaging |
Het |
Zbtb39 |
T |
C |
10: 127,579,423 (GRCm39) |
C666R |
probably damaging |
Het |
Zfp420 |
T |
C |
7: 29,575,427 (GRCm39) |
M549T |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CGACAACCTCTAAAATCTTGAAGG -3'
(R):5'- AGCCAAGAAGCCTATATATTACTTGGG -3'
Sequencing Primer
(F):5'- AATTGCTACACTTAGGAGGCTG -3'
(R):5'- TGGGGAAATTAAAAGATTTGACATCG -3'
|
Posted On |
2015-04-30 |