Incidental Mutation 'R5371:Krit1'
| ID |
428711 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5371 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
3853156-3894515 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 3881551 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 548
(H548N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143559
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080085]
[ENSMUST00000171023]
[ENSMUST00000200386]
[ENSMUST00000200577]
|
| AlphaFold |
Q6S5J6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080085
AA Change: H596N
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000078985
Gene: ENSMUSG00000000600
AA Change: H596N
| 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: H596N
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132375
Gene: ENSMUSG00000000600
AA Change: H596N
| 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 damaging
Transcript: ENSMUST00000200386
AA Change: H548N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143559
Gene: ENSMUSG00000000600
AA Change: H548N
| 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 |
0.1156 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
96% (71/74) |
| 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 |
|---|
| 4930432E11Rik |
G |
T |
7: 29,261,918 (GRCm39) |
|
noncoding transcript |
Het |
| Arpp21 |
G |
A |
9: 111,895,000 (GRCm39) |
P755S |
probably benign |
Het |
| Aspm |
C |
T |
1: 139,398,279 (GRCm39) |
Q982* |
probably null |
Het |
| Atp5f1e |
C |
T |
2: 174,304,319 (GRCm39) |
|
probably benign |
Het |
| BC024139 |
A |
G |
15: 76,004,886 (GRCm39) |
*598Q |
probably null |
Het |
| Bcl6 |
T |
A |
16: 23,788,736 (GRCm39) |
D544V |
possibly damaging |
Het |
| Ccdc9 |
A |
T |
7: 16,014,655 (GRCm39) |
D195E |
probably damaging |
Het |
| Cd38 |
A |
G |
5: 44,026,225 (GRCm39) |
N3S |
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,212,097 (GRCm39) |
|
probably null |
Het |
| Cmtr2 |
T |
C |
8: 110,948,044 (GRCm39) |
F118S |
probably damaging |
Het |
| Cyp7a1 |
A |
G |
4: 6,268,378 (GRCm39) |
F449S |
probably damaging |
Het |
| Dnah10 |
C |
T |
5: 124,820,693 (GRCm39) |
A509V |
probably benign |
Het |
| Dsp |
A |
T |
13: 38,378,865 (GRCm39) |
Q1271L |
probably damaging |
Het |
| Edar |
A |
C |
10: 58,443,274 (GRCm39) |
V284G |
possibly damaging |
Het |
| Fdft1 |
A |
G |
14: 63,388,750 (GRCm39) |
V294A |
probably damaging |
Het |
| Gba1 |
T |
A |
3: 89,112,778 (GRCm39) |
V140E |
probably benign |
Het |
| Gm12185 |
A |
T |
11: 48,806,566 (GRCm39) |
S208R |
probably benign |
Het |
| Gm21028 |
C |
A |
7: 42,227,946 (GRCm39) |
E23* |
probably null |
Het |
| Gm6871 |
A |
G |
7: 41,222,992 (GRCm39) |
L32P |
probably benign |
Het |
| Hhip |
C |
T |
8: 80,724,220 (GRCm39) |
V341M |
probably damaging |
Het |
| Kcnq2 |
C |
A |
2: 180,776,813 (GRCm39) |
V25L |
probably damaging |
Het |
| Kynu |
C |
T |
2: 43,479,406 (GRCm39) |
A100V |
probably benign |
Het |
| Lpp |
T |
C |
16: 24,708,554 (GRCm39) |
C295R |
probably damaging |
Het |
| Mdp1 |
A |
G |
14: 55,897,806 (GRCm39) |
V9A |
probably damaging |
Het |
| Mllt3 |
T |
C |
4: 87,759,093 (GRCm39) |
I318M |
possibly damaging |
Het |
| Mpzl3 |
A |
G |
9: 44,966,510 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Mup8 |
A |
G |
4: 60,222,423 (GRCm39) |
V16A |
probably benign |
Het |
| Myh13 |
T |
A |
11: 67,235,616 (GRCm39) |
|
probably null |
Het |
| Myh4 |
A |
T |
11: 67,150,150 (GRCm39) |
Q1869L |
probably damaging |
Het |
| Nt5c |
G |
A |
11: 115,381,643 (GRCm39) |
|
probably null |
Het |
| Olfr908 |
CACAACAACA |
CACAACA |
9: 38,427,434 (GRCm39) |
|
probably benign |
Het |
| Or13c7b |
A |
T |
4: 43,821,058 (GRCm39) |
M101K |
probably damaging |
Het |
| Or51h7 |
T |
A |
7: 102,591,719 (GRCm39) |
M22L |
probably benign |
Het |
| Or5d43 |
C |
A |
2: 88,104,976 (GRCm39) |
C139F |
probably damaging |
Het |
| Parp11 |
T |
C |
6: 127,447,755 (GRCm39) |
F30L |
probably damaging |
Het |
| Pcdhgc3 |
A |
T |
18: 37,941,507 (GRCm39) |
D636V |
possibly damaging |
Het |
| Ppp1cb |
T |
C |
5: 32,643,332 (GRCm39) |
F234L |
probably damaging |
Het |
| Rras2 |
A |
T |
7: 113,649,572 (GRCm39) |
V164E |
probably damaging |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGACGGCGGCG |
7: 97,229,120 (GRCm39) |
|
probably benign |
Het |
| Scg3 |
T |
C |
9: 75,568,583 (GRCm39) |
T390A |
probably damaging |
Het |
| Shh |
C |
A |
5: 28,671,688 (GRCm39) |
C25F |
probably damaging |
Het |
| Slc24a1 |
T |
C |
9: 64,856,550 (GRCm39) |
K119R |
unknown |
Het |
| Speg |
G |
T |
1: 75,408,037 (GRCm39) |
R3244L |
possibly damaging |
Het |
| Spns1 |
A |
G |
7: 125,972,936 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
A |
C |
7: 27,059,166 (GRCm39) |
|
probably null |
Het |
| Stap1 |
T |
A |
5: 86,244,375 (GRCm39) |
F214Y |
possibly damaging |
Het |
| Tcerg1 |
T |
A |
18: 42,652,600 (GRCm39) |
M76K |
unknown |
Het |
| Tjp1 |
A |
T |
7: 64,963,059 (GRCm39) |
Y959* |
probably null |
Het |
| Tmprss11e |
A |
T |
5: 86,875,225 (GRCm39) |
C14S |
probably benign |
Het |
| Tnfrsf14 |
T |
C |
4: 155,006,934 (GRCm39) |
|
probably null |
Het |
| Tsfm |
A |
C |
10: 126,847,512 (GRCm39) |
V193G |
probably benign |
Het |
| Ube2q2l |
T |
A |
6: 136,378,371 (GRCm39) |
Y153F |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,175,267 (GRCm39) |
I1122L |
probably benign |
Het |
| Vmn1r74 |
T |
A |
7: 11,580,984 (GRCm39) |
S95T |
probably damaging |
Het |
| Vmn2r98 |
G |
A |
17: 19,290,015 (GRCm39) |
C517Y |
probably damaging |
Het |
| Vstm2b |
G |
A |
7: 40,550,702 (GRCm39) |
S99N |
possibly damaging |
Het |
| Zbtb24 |
A |
G |
10: 41,327,537 (GRCm39) |
N141S |
probably benign |
Het |
| Zcchc4 |
T |
G |
5: 52,942,512 (GRCm39) |
C106G |
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 |
|
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 |
|
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'- GAGTCAGATATTTAAGAATCCCACC -3'
(R):5'- TCTAGCCTTTACCAGAGTATTCAAC -3'
Sequencing Primer
(F):5'- CCTTGAGAGAAAATAGAGGTTTTAGC -3'
(R):5'- CACAGAAGGCGGCGATACTC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation