Incidental Mutation 'R4476:Krt90'
| ID |
330572 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt90
|
| Ensembl Gene |
ENSMUSG00000048699 |
| Gene Name |
keratin 90 |
| Synonyms |
4732456N10Rik |
| MMRRC Submission |
041733-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4476 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
101460791-101471385 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101465718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 301
(D301G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023714]
|
| AlphaFold |
E9Q1Z0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023714
AA Change: D301G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023714
Gene: ENSMUSG00000048699
AA Change: D301G
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
98% (41/42) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
T |
C |
14: 54,882,787 (GRCm39) |
R275G |
probably damaging |
Het |
| Actc1 |
T |
C |
2: 113,879,707 (GRCm39) |
T251A |
probably benign |
Het |
| Alpk1 |
T |
C |
3: 127,473,667 (GRCm39) |
T779A |
probably damaging |
Het |
| Arsb |
C |
T |
13: 93,944,103 (GRCm39) |
R265C |
probably damaging |
Het |
| Cntn6 |
A |
G |
6: 104,749,522 (GRCm39) |
E319G |
probably damaging |
Het |
| Cracr2a |
T |
A |
6: 127,606,782 (GRCm39) |
N275K |
probably benign |
Het |
| Crispld1 |
G |
T |
1: 17,817,734 (GRCm39) |
W212C |
probably damaging |
Het |
| Exosc10 |
G |
A |
4: 148,649,781 (GRCm39) |
D404N |
probably damaging |
Het |
| Gfpt2 |
T |
C |
11: 49,715,169 (GRCm39) |
V388A |
probably benign |
Het |
| Gm14401 |
C |
T |
2: 176,778,570 (GRCm39) |
R219* |
probably null |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Itgb1bp1 |
T |
C |
12: 21,320,957 (GRCm39) |
E178G |
probably benign |
Het |
| Kidins220 |
C |
T |
12: 25,061,000 (GRCm39) |
S826L |
probably damaging |
Het |
| Me3 |
T |
A |
7: 89,389,068 (GRCm39) |
V124E |
probably damaging |
Het |
| Nedd4 |
C |
T |
9: 72,578,521 (GRCm39) |
R78* |
probably null |
Het |
| Neto1 |
A |
T |
18: 86,422,798 (GRCm39) |
D85V |
probably damaging |
Het |
| Or12k8 |
G |
A |
2: 36,975,073 (GRCm39) |
S229L |
probably damaging |
Het |
| Or13a24 |
T |
C |
7: 140,154,842 (GRCm39) |
Y259H |
probably damaging |
Het |
| Or4g7 |
T |
A |
2: 111,310,009 (GRCm39) |
D293E |
possibly damaging |
Het |
| Parn |
A |
G |
16: 13,482,549 (GRCm39) |
S100P |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,795,500 (GRCm39) |
E2331G |
probably damaging |
Het |
| Rab22a |
C |
T |
2: 173,537,056 (GRCm39) |
T85M |
probably damaging |
Het |
| Rab23 |
A |
G |
1: 33,763,973 (GRCm39) |
|
probably benign |
Het |
| Sim2 |
T |
C |
16: 93,926,650 (GRCm39) |
S625P |
probably benign |
Het |
| Sox18 |
T |
C |
2: 181,312,669 (GRCm39) |
K154R |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,672,340 (GRCm39) |
|
probably null |
Het |
| Ugt1a10 |
TAAAAAAAAA |
TAAAAAAA |
1: 88,143,650 (GRCm39) |
|
probably benign |
Het |
| Zfp667 |
A |
G |
7: 6,307,598 (GRCm39) |
K89E |
possibly 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 |
|
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'- GTCCTCATTAGGCTGAGACAC -3'
(R):5'- CCATCTCCAAAGCACATGTG -3'
Sequencing Primer
(F):5'- AGGGAAGGCTCTTAATCTTTTTAGCC -3'
(R):5'- GTGCACTCATACACATATCTGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation