Incidental Mutation 'R4021:Krit1'
| ID |
313228 |
| 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 |
040955-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4021 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
3853156-3894515 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3882132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 596
(I596K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143559
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080085]
[ENSMUST00000171023]
[ENSMUST00000200386]
[ENSMUST00000200577]
|
| AlphaFold |
Q6S5J6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080085
AA Change: I644K
PolyPhen 2
Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000078985
Gene: ENSMUSG00000000600
AA Change: I644K
| 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
AA Change: I644K
PolyPhen 2
Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000132375
Gene: ENSMUSG00000000600
AA Change: I644K
| 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 |
noncoding transcript
Transcript: ENSMUST00000200004
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200386
AA Change: I596K
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143559
Gene: ENSMUSG00000000600
AA Change: I596K
| 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 |
|
| Meta Mutation Damage Score |
0.1806 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.2%
|
| Validation Efficiency |
100% (65/65) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008P02Rik |
A |
G |
3: 6,685,148 (GRCm39) |
L102P |
probably benign |
Het |
| Adcy4 |
C |
T |
14: 56,012,635 (GRCm39) |
|
probably null |
Het |
| Adgrf5 |
A |
T |
17: 43,741,605 (GRCm39) |
|
probably benign |
Het |
| Atp11a |
A |
G |
8: 12,892,938 (GRCm39) |
K643R |
probably benign |
Het |
| Cacna2d2 |
C |
T |
9: 107,391,257 (GRCm39) |
T428M |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 164,985,593 (GRCm39) |
D331G |
possibly damaging |
Het |
| Chmp3 |
T |
C |
6: 71,551,222 (GRCm39) |
|
probably null |
Het |
| Csnk2a1 |
C |
T |
2: 152,100,609 (GRCm39) |
T127M |
probably damaging |
Het |
| Cyp2c55 |
T |
A |
19: 39,023,878 (GRCm39) |
|
probably null |
Het |
| Ddias |
G |
T |
7: 92,510,686 (GRCm39) |
D105E |
possibly damaging |
Het |
| Dnajb11 |
A |
G |
16: 22,688,196 (GRCm39) |
D238G |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,892,157 (GRCm39) |
|
probably null |
Het |
| Dock9 |
T |
C |
14: 121,864,324 (GRCm39) |
K761E |
possibly damaging |
Het |
| Entpd7 |
G |
A |
19: 43,679,597 (GRCm39) |
R50Q |
probably benign |
Het |
| Fam107b |
G |
A |
2: 3,779,511 (GRCm39) |
R238Q |
probably damaging |
Het |
| Fam186a |
G |
C |
15: 99,839,680 (GRCm39) |
T2188S |
possibly damaging |
Het |
| Farsa |
A |
G |
8: 85,595,499 (GRCm39) |
T465A |
probably damaging |
Het |
| Fibp |
T |
C |
19: 5,510,762 (GRCm39) |
|
probably null |
Het |
| Flywch2 |
G |
A |
17: 23,996,013 (GRCm39) |
T128I |
possibly damaging |
Het |
| Foxi2 |
A |
T |
7: 135,012,259 (GRCm39) |
D49V |
probably damaging |
Het |
| Fstl5 |
A |
G |
3: 76,536,282 (GRCm39) |
T31A |
probably benign |
Het |
| Gabbr2 |
G |
A |
4: 46,846,435 (GRCm39) |
T158I |
probably damaging |
Het |
| Gbp4 |
T |
A |
5: 105,268,789 (GRCm39) |
R455W |
probably damaging |
Het |
| Got2 |
T |
G |
8: 96,604,381 (GRCm39) |
D69A |
probably damaging |
Het |
| Gpr63 |
T |
C |
4: 25,008,470 (GRCm39) |
F398S |
possibly damaging |
Het |
| Gtf2h4 |
T |
C |
17: 35,981,556 (GRCm39) |
M186V |
probably benign |
Het |
| Haus2 |
A |
T |
2: 120,446,411 (GRCm39) |
Q111L |
probably damaging |
Het |
| Hexd |
T |
C |
11: 121,108,987 (GRCm39) |
|
probably null |
Het |
| Igf2r |
T |
A |
17: 12,967,638 (GRCm39) |
N27I |
probably damaging |
Het |
| Itgax |
T |
A |
7: 127,732,311 (GRCm39) |
|
probably null |
Het |
| Lair1 |
A |
G |
7: 4,058,915 (GRCm39) |
|
probably null |
Het |
| Lilra6 |
G |
T |
7: 3,914,417 (GRCm39) |
T276K |
probably benign |
Het |
| Mast4 |
G |
A |
13: 102,875,829 (GRCm39) |
R1112* |
probably null |
Het |
| Mrgprb1 |
A |
T |
7: 48,096,871 (GRCm39) |
I347N |
possibly damaging |
Het |
| Mroh2b |
T |
A |
15: 4,954,582 (GRCm39) |
C682S |
possibly damaging |
Het |
| Mtif3 |
T |
A |
5: 146,892,488 (GRCm39) |
R249S |
possibly damaging |
Het |
| Mycbp2 |
C |
T |
14: 103,389,593 (GRCm39) |
E3406K |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,764,331 (GRCm39) |
H1315R |
probably benign |
Het |
| Nlrp2 |
A |
G |
7: 5,328,011 (GRCm39) |
F681L |
probably benign |
Het |
| Or2ag19 |
T |
A |
7: 106,444,226 (GRCm39) |
M136K |
probably damaging |
Het |
| Or5l14 |
T |
A |
2: 87,793,066 (GRCm39) |
T57S |
possibly damaging |
Het |
| Pear1 |
T |
C |
3: 87,663,529 (GRCm39) |
N390D |
possibly damaging |
Het |
| Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
| Rnf17 |
C |
T |
14: 56,697,458 (GRCm39) |
H451Y |
probably damaging |
Het |
| Sag |
A |
T |
1: 87,749,027 (GRCm39) |
|
probably null |
Het |
| Septin4 |
A |
G |
11: 87,458,106 (GRCm39) |
E160G |
probably damaging |
Het |
| Slc22a2 |
T |
C |
17: 12,803,376 (GRCm39) |
L70P |
probably damaging |
Het |
| Slc32a1 |
C |
T |
2: 158,453,152 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
A |
T |
3: 99,956,546 (GRCm39) |
I881F |
probably benign |
Het |
| Taar7a |
G |
T |
10: 23,869,284 (GRCm39) |
N32K |
probably benign |
Het |
| Tbck |
C |
A |
3: 132,432,895 (GRCm39) |
T435K |
probably damaging |
Het |
| Tril |
T |
G |
6: 53,796,004 (GRCm39) |
D406A |
probably damaging |
Het |
| Tshz2 |
G |
A |
2: 169,727,782 (GRCm39) |
D324N |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,801,631 (GRCm39) |
V2349A |
possibly damaging |
Het |
| Wdr6 |
A |
G |
9: 108,452,405 (GRCm39) |
W493R |
probably damaging |
Het |
| Wdr72 |
G |
A |
9: 74,058,875 (GRCm39) |
V323I |
probably benign |
Het |
| Zfp488 |
T |
A |
14: 33,693,110 (GRCm39) |
M18L |
probably benign |
Het |
| Zic4 |
A |
G |
9: 91,261,089 (GRCm39) |
T108A |
probably benign |
Het |
| Znrf3 |
T |
C |
11: 5,231,278 (GRCm39) |
D745G |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTTGGGATAATATACCGTGACTTC -3'
(R):5'- CATTTCTAGATTCTTCAAGGAAGACGG -3'
Sequencing Primer
(F):5'- GGGACATTGATTTTAGAAATGGCTAG -3'
(R):5'- CGGAGAAGCTATTCTAAACAATACG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation