Incidental Mutation 'R8041:Krit1'
| ID |
618515 |
| 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 |
067478-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8041 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
3853156-3894515 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3857309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 38
(H38L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043551]
[ENSMUST00000080085]
[ENSMUST00000171023]
[ENSMUST00000198079]
[ENSMUST00000200386]
[ENSMUST00000200577]
|
| 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 |
probably benign
Transcript: ENSMUST00000080085
AA Change: H38L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000078985
Gene: ENSMUSG00000000600
AA Change: H38L
| 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: H38L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132375
Gene: ENSMUSG00000000600
AA Change: H38L
| 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 |
probably benign
Transcript: ENSMUST00000198079
AA Change: H58L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000142657
Gene: ENSMUSG00000000600
AA Change: H58L
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4DX8|K
|
20 |
132 |
4e-62 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200386
AA Change: H38L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000143559
Gene: ENSMUSG00000000600
AA Change: H38L
| 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
AA Change: H38L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000143776
Gene: ENSMUSG00000000600
AA Change: H38L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l1 |
A |
T |
18: 61,891,754 (GRCm39) |
L21Q |
probably damaging |
Het |
| Ago1 |
G |
A |
4: 126,335,729 (GRCm39) |
R661C |
probably damaging |
Het |
| Albfm1 |
T |
A |
5: 90,740,864 (GRCm39) |
|
probably null |
Het |
| Aoc3 |
T |
C |
11: 101,223,132 (GRCm39) |
V456A |
probably benign |
Het |
| Aopep |
G |
C |
13: 63,180,921 (GRCm39) |
W294C |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,547,311 (GRCm39) |
F1223L |
probably damaging |
Het |
| Ccdc40 |
T |
C |
11: 119,122,507 (GRCm39) |
F33S |
possibly damaging |
Het |
| Ccnjl |
T |
C |
11: 43,470,538 (GRCm39) |
V102A |
probably damaging |
Het |
| Cd48 |
T |
C |
1: 171,526,958 (GRCm39) |
V128A |
probably damaging |
Het |
| Cmah |
A |
G |
13: 24,652,601 (GRCm39) |
D577G |
probably benign |
Het |
| Cnnm4 |
A |
G |
1: 36,511,174 (GRCm39) |
K134R |
probably benign |
Het |
| Cntnap5a |
T |
A |
1: 116,187,209 (GRCm39) |
Y594N |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,318,626 (GRCm39) |
E1375G |
unknown |
Het |
| Comtd1 |
T |
A |
14: 21,897,985 (GRCm39) |
E153V |
probably benign |
Het |
| Dchs1 |
T |
A |
7: 105,404,395 (GRCm39) |
T2716S |
probably benign |
Het |
| Ddx4 |
A |
T |
13: 112,762,928 (GRCm39) |
S143T |
probably benign |
Het |
| Dlg1 |
A |
G |
16: 31,656,885 (GRCm39) |
D593G |
possibly damaging |
Het |
| Dok6 |
A |
G |
18: 89,578,213 (GRCm39) |
I68T |
possibly damaging |
Het |
| Dpysl5 |
A |
G |
5: 30,953,658 (GRCm39) |
I563V |
probably benign |
Het |
| Eapp |
A |
G |
12: 54,739,650 (GRCm39) |
S56P |
probably damaging |
Het |
| Efcab3 |
T |
G |
11: 104,810,305 (GRCm39) |
D3147E |
unknown |
Het |
| Fgd5 |
A |
T |
6: 92,038,837 (GRCm39) |
D1157V |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,194,939 (GRCm39) |
L213Q |
unknown |
Het |
| Foxo1 |
T |
A |
3: 52,253,044 (GRCm39) |
Y402* |
probably null |
Het |
| Fyb2 |
C |
A |
4: 104,857,681 (GRCm39) |
F619L |
possibly damaging |
Het |
| Gtf2i |
A |
T |
5: 134,322,599 (GRCm39) |
|
probably null |
Het |
| Hrh1 |
G |
A |
6: 114,456,878 (GRCm39) |
R53H |
not run |
Het |
| Hydin |
A |
T |
8: 111,301,626 (GRCm39) |
M3786L |
probably benign |
Het |
| Ifi207 |
T |
C |
1: 173,555,268 (GRCm39) |
R805G |
possibly damaging |
Het |
| Igfn1 |
C |
A |
1: 135,895,797 (GRCm39) |
G1590* |
probably null |
Het |
| Jph3 |
A |
C |
8: 122,516,201 (GRCm39) |
I740L |
probably benign |
Het |
| Kbtbd7 |
T |
A |
14: 79,666,144 (GRCm39) |
F659I |
probably benign |
Het |
| Kcns2 |
A |
T |
15: 34,839,291 (GRCm39) |
Q218L |
probably benign |
Het |
| Kcnt2 |
A |
G |
1: 140,537,398 (GRCm39) |
N1119S |
probably benign |
Het |
| Krt20 |
T |
A |
11: 99,328,663 (GRCm39) |
R87S |
probably damaging |
Het |
| Ly6g5c |
A |
G |
17: 35,330,808 (GRCm39) |
E110G |
probably damaging |
Het |
| Mamdc4 |
A |
G |
2: 25,454,707 (GRCm39) |
F1035S |
probably damaging |
Het |
| Mmp13 |
A |
T |
9: 7,280,865 (GRCm39) |
D416V |
probably benign |
Het |
| Nadk |
G |
T |
4: 155,661,524 (GRCm39) |
D17Y |
probably benign |
Het |
| Nrap |
A |
T |
19: 56,352,768 (GRCm39) |
L566* |
probably null |
Het |
| Or12d17 |
T |
C |
17: 37,777,540 (GRCm39) |
F148L |
probably benign |
Het |
| Or4b12 |
A |
T |
2: 90,096,488 (GRCm39) |
C95* |
probably null |
Het |
| Or51ai2 |
T |
C |
7: 103,586,788 (GRCm39) |
L67P |
probably damaging |
Het |
| Or5p69 |
T |
C |
7: 107,966,741 (GRCm39) |
F15L |
probably damaging |
Het |
| Pcdhb19 |
T |
C |
18: 37,630,367 (GRCm39) |
L54P |
possibly damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,259,519 (GRCm39) |
F1272S |
probably damaging |
Het |
| Pml |
C |
A |
9: 58,141,968 (GRCm39) |
R288L |
probably benign |
Het |
| Reep4 |
T |
C |
14: 70,785,627 (GRCm39) |
Y186H |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,356,702 (GRCm39) |
T89A |
possibly damaging |
Het |
| Shc1 |
T |
C |
3: 89,330,260 (GRCm39) |
S175P |
probably damaging |
Het |
| Sipa1l3 |
A |
G |
7: 29,063,645 (GRCm39) |
S1156P |
probably damaging |
Het |
| Slc1a3 |
G |
A |
15: 8,665,683 (GRCm39) |
P522L |
probably benign |
Het |
| Slc6a17 |
T |
A |
3: 107,381,744 (GRCm39) |
T446S |
probably damaging |
Het |
| Tas1r2 |
A |
T |
4: 139,387,290 (GRCm39) |
N250Y |
possibly damaging |
Het |
| Tex15 |
G |
T |
8: 34,065,874 (GRCm39) |
R1768L |
probably damaging |
Het |
| Ttll9 |
G |
C |
2: 152,844,956 (GRCm39) |
Q441H |
possibly damaging |
Het |
| Unc5c |
T |
A |
3: 141,171,545 (GRCm39) |
V24E |
possibly damaging |
Het |
| Unc79 |
A |
G |
12: 103,054,726 (GRCm39) |
E888G |
probably benign |
Het |
| Vmn2r19 |
T |
C |
6: 123,312,750 (GRCm39) |
S607P |
possibly damaging |
Het |
| Vsig1 |
C |
T |
X: 139,833,875 (GRCm39) |
H232Y |
probably benign |
Het |
| Wdfy4 |
A |
G |
14: 32,875,965 (GRCm39) |
|
probably null |
Het |
| Zbtb49 |
T |
C |
5: 38,358,198 (GRCm39) |
D685G |
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 |
|
|
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 |
|
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'- TGCTTTTGTAATGTTATCCTAAGCC -3'
(R):5'- ACAACTTCCTGAGGTTTTCATACTC -3'
Sequencing Primer
(F):5'- CGATTGACTTGGGAAACTACTAGTGC -3'
(R):5'- CCTGGTCTACATAATGAGTTCCAGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation