Incidental Mutation 'R6674:Krt90'
ID |
527223 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt90
|
Ensembl Gene |
ENSMUSG00000048699 |
Gene Name |
keratin 90 |
Synonyms |
4732456N10Rik |
MMRRC Submission |
044794-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6674 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
101460791-101471385 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 101465761 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 287
(L287F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023714
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023714]
|
AlphaFold |
E9Q1Z0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023714
AA Change: L287F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000023714 Gene: ENSMUSG00000048699 AA Change: L287F
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 |
noncoding transcript
Transcript: ENSMUST00000197418
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
Validation Efficiency |
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Armh3 |
T |
C |
19: 45,963,437 (GRCm39) |
E92G |
probably benign |
Het |
Cluh |
A |
G |
11: 74,557,053 (GRCm39) |
H1005R |
probably damaging |
Het |
Coro2b |
C |
T |
9: 62,339,709 (GRCm39) |
R13H |
probably damaging |
Het |
Depdc1a |
T |
A |
3: 159,232,344 (GRCm39) |
N698K |
probably benign |
Het |
Dusp12 |
G |
A |
1: 170,707,317 (GRCm39) |
T257I |
probably benign |
Het |
Esf1 |
T |
A |
2: 139,962,726 (GRCm39) |
K782* |
probably null |
Het |
Extl1 |
T |
C |
4: 134,085,438 (GRCm39) |
T560A |
probably damaging |
Het |
Gpr179 |
C |
A |
11: 97,238,231 (GRCm39) |
|
probably null |
Het |
Mertk |
T |
C |
2: 128,571,277 (GRCm39) |
V77A |
probably benign |
Het |
Nr4a2 |
C |
T |
2: 57,002,436 (GRCm39) |
A6T |
probably damaging |
Het |
Pdzd8 |
G |
A |
19: 59,289,801 (GRCm39) |
P533L |
probably damaging |
Het |
Plxnb1 |
G |
A |
9: 108,937,214 (GRCm39) |
G1132R |
probably benign |
Het |
Ppfia2 |
A |
G |
10: 106,763,633 (GRCm39) |
I1209V |
probably benign |
Het |
Slc26a9 |
A |
T |
1: 131,692,756 (GRCm39) |
Q696L |
probably benign |
Het |
Sphkap |
A |
T |
1: 83,255,555 (GRCm39) |
S444R |
probably benign |
Het |
Tmem144 |
A |
G |
3: 79,746,490 (GRCm39) |
F22L |
possibly damaging |
Het |
Tomm20l |
A |
G |
12: 71,158,307 (GRCm39) |
D30G |
probably damaging |
Het |
Trpc2 |
A |
G |
7: 101,745,264 (GRCm39) |
T827A |
probably benign |
Het |
Unc50 |
T |
C |
1: 37,476,539 (GRCm39) |
V208A |
probably benign |
Het |
Vmn1r125 |
T |
C |
7: 21,006,638 (GRCm39) |
S179P |
probably damaging |
Het |
Vmn1r225 |
A |
C |
17: 20,723,377 (GRCm39) |
I273L |
probably benign |
Het |
Vmn2r117 |
G |
A |
17: 23,679,023 (GRCm39) |
Q734* |
probably null |
Het |
Vmn2r88 |
A |
G |
14: 51,651,795 (GRCm39) |
I378V |
probably benign |
Het |
Zfp507 |
C |
T |
7: 35,494,159 (GRCm39) |
V295I |
probably damaging |
Het |
Zfp981 |
A |
G |
4: 146,619,950 (GRCm39) |
R35G |
probably damaging |
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 |
R3910:Krt90
|
UTSW |
15 |
101,471,218 (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 |
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'- CCCTATGCCTGGGTAATTGG -3'
(R):5'- AGACAACAGGAAGCTGCATTCC -3'
Sequencing Primer
(F):5'- GGATAGATCTTGGCATCTCACC -3'
(R):5'- GGAAGCTGCATTCCACCATG -3'
|
Posted On |
2018-07-23 |