Incidental Mutation 'R3910:Krt90'
| ID |
309352 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt90
|
| Ensembl Gene |
ENSMUSG00000048699 |
| Gene Name |
keratin 90 |
| Synonyms |
4732456N10Rik |
| MMRRC Submission |
040815-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3910 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
101460791-101471385 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 101471218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 15
(R15W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023714]
[ENSMUST00000042957]
|
| AlphaFold |
E9Q1Z0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023714
AA Change: R15W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023714
Gene: ENSMUSG00000048699
AA Change: R15W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Keratin_2_head
|
16 |
139 |
3.1e-24 |
PFAM |
|
Filament
|
142 |
453 |
1.05e-179 |
SMART |
|
low complexity region
|
465 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
535 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042957
|
| SMART Domains |
Protein: ENSMUSP00000036246
Gene: ENSMUSG00000022986
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Keratin_2_head
|
16 |
146 |
1e-32 |
PFAM |
|
Filament
|
149 |
462 |
1.68e-178 |
SMART |
|
low complexity region
|
468 |
527 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
97% (36/37) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit partial prenatal lethality and thickened long toenails. An increased caudal vertebrae number is observed in some mutant mice. [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 |
|---|
| Bod1l |
T |
C |
5: 41,974,441 (GRCm39) |
E2291G |
probably damaging |
Het |
| Cchcr1 |
T |
C |
17: 35,836,233 (GRCm39) |
V341A |
probably damaging |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
T |
C |
18: 20,399,253 (GRCm39) |
V119A |
possibly damaging |
Het |
| Fap |
A |
G |
2: 62,386,448 (GRCm39) |
S58P |
probably damaging |
Het |
| Flnc |
A |
T |
6: 29,459,426 (GRCm39) |
T2509S |
probably damaging |
Het |
| Fnip2 |
A |
T |
3: 79,386,812 (GRCm39) |
D971E |
possibly damaging |
Het |
| Gab2 |
A |
G |
7: 96,948,280 (GRCm39) |
Y290C |
probably damaging |
Het |
| Gm7104 |
C |
T |
12: 88,251,364 (GRCm39) |
|
noncoding transcript |
Het |
| Ints10 |
T |
A |
8: 69,266,272 (GRCm39) |
S478T |
probably damaging |
Het |
| Iqca1l |
A |
T |
5: 24,750,440 (GRCm39) |
|
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lgr5 |
A |
G |
10: 115,423,368 (GRCm39) |
S11P |
possibly damaging |
Het |
| Mycn |
T |
A |
12: 12,987,281 (GRCm39) |
N372I |
probably damaging |
Het |
| Or2ag18 |
A |
T |
7: 106,405,072 (GRCm39) |
V199D |
probably damaging |
Het |
| Or9a2 |
A |
G |
6: 41,749,083 (GRCm39) |
V50A |
probably benign |
Het |
| Paxbp1 |
T |
A |
16: 90,839,569 (GRCm39) |
E117V |
probably damaging |
Het |
| Phc2 |
T |
C |
4: 128,637,351 (GRCm39) |
|
probably null |
Het |
| Prr5 |
T |
A |
15: 84,587,345 (GRCm39) |
V365E |
probably benign |
Het |
| Rev3l |
A |
G |
10: 39,696,552 (GRCm39) |
I521M |
probably damaging |
Het |
| Robo3 |
A |
T |
9: 37,330,591 (GRCm39) |
Y1002N |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,145,156 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
A |
G |
6: 12,331,548 (GRCm39) |
V1342A |
probably damaging |
Het |
| Tmtc3 |
A |
C |
10: 100,284,888 (GRCm39) |
N582K |
probably damaging |
Het |
| Tnfrsf11b |
G |
A |
15: 54,119,578 (GRCm39) |
|
probably benign |
Het |
| Trim30a |
A |
G |
7: 104,060,348 (GRCm39) |
V476A |
probably damaging |
Het |
| Ugt1a8 |
A |
G |
1: 88,015,770 (GRCm39) |
E61G |
possibly damaging |
Het |
| Vmn1r75 |
A |
T |
7: 11,614,757 (GRCm39) |
N163I |
possibly damaging |
Het |
| Vps35l |
A |
G |
7: 118,345,613 (GRCm39) |
T49A |
possibly damaging |
Het |
| Zfp119a |
G |
A |
17: 56,173,520 (GRCm39) |
L108F |
probably benign |
Het |
|
| Other mutations in Krt90 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01608:Krt90
|
APN |
15 |
101,471,064 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01656:Krt90
|
APN |
15 |
101,463,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02064:Krt90
|
APN |
15 |
101,471,088 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0243:Krt90
|
UTSW |
15 |
101,471,110 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0732:Krt90
|
UTSW |
15 |
101,468,860 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1036:Krt90
|
UTSW |
15 |
101,471,151 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1616:Krt90
|
UTSW |
15 |
101,469,026 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1750:Krt90
|
UTSW |
15 |
101,461,800 (GRCm39) |
unclassified |
probably benign |
|
|
R1919:Krt90
|
UTSW |
15 |
101,465,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2063:Krt90
|
UTSW |
15 |
101,466,794 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2107:Krt90
|
UTSW |
15 |
101,471,064 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2155:Krt90
|
UTSW |
15 |
101,471,046 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2404:Krt90
|
UTSW |
15 |
101,463,105 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3412:Krt90
|
UTSW |
15 |
101,469,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3911:Krt90
|
UTSW |
15 |
101,471,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3913:Krt90
|
UTSW |
15 |
101,471,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4476:Krt90
|
UTSW |
15 |
101,465,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4748:Krt90
|
UTSW |
15 |
101,463,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4918:Krt90
|
UTSW |
15 |
101,470,914 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5883:Krt90
|
UTSW |
15 |
101,461,654 (GRCm39) |
unclassified |
probably benign |
|
|
R6416:Krt90
|
UTSW |
15 |
101,467,679 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6674:Krt90
|
UTSW |
15 |
101,465,761 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7025:Krt90
|
UTSW |
15 |
101,465,610 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7514:Krt90
|
UTSW |
15 |
101,461,605 (GRCm39) |
missense |
unknown |
|
|
R7915:Krt90
|
UTSW |
15 |
101,466,838 (GRCm39) |
splice site |
probably null |
|
|
R8307:Krt90
|
UTSW |
15 |
101,467,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8756:Krt90
|
UTSW |
15 |
101,470,779 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9011:Krt90
|
UTSW |
15 |
101,471,235 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9355:Krt90
|
UTSW |
15 |
101,461,714 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TATCCTATGCCGCTGACACC -3'
(R):5'- TCTTTGATCTACTCTGGCCAAG -3'
Sequencing Primer
(F):5'- CAAAGCTGGCTCGGGTG -3'
(R):5'- CCAAGCCCAGTTCTTGAAAGGG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation