Incidental Mutation 'R3412:Krt90'
| ID |
267782 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt90
|
| Ensembl Gene |
ENSMUSG00000048699 |
| Gene Name |
keratin 90 |
| Synonyms |
4732456N10Rik |
| MMRRC Submission |
040630-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3412 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
101460791-101471385 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101469028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 171
(L171F)
|
| 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: L171F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023714
Gene: ENSMUSG00000048699
AA Change: L171F
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197418
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (40/41) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb2 |
T |
C |
13: 8,802,654 (GRCm39) |
F643S |
probably damaging |
Het |
| Ap2a2 |
T |
A |
7: 141,178,689 (GRCm39) |
N105K |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,250,724 (GRCm39) |
I492V |
probably benign |
Het |
| Atp8b4 |
C |
A |
2: 126,217,677 (GRCm39) |
W613L |
probably damaging |
Het |
| Ccdc162 |
T |
C |
10: 41,415,545 (GRCm39) |
|
probably benign |
Het |
| Duxf4 |
G |
A |
10: 58,072,175 (GRCm39) |
T13I |
possibly damaging |
Het |
| Esp24 |
T |
A |
17: 39,349,207 (GRCm39) |
I11N |
possibly damaging |
Het |
| Exoc4 |
A |
G |
6: 33,242,910 (GRCm39) |
E41G |
probably damaging |
Het |
| Eya1 |
T |
A |
1: 14,344,433 (GRCm39) |
|
probably null |
Het |
| Gckr |
T |
A |
5: 31,458,211 (GRCm39) |
|
probably null |
Het |
| Gria4 |
T |
A |
9: 4,513,278 (GRCm39) |
D277V |
probably benign |
Het |
| Il18r1 |
A |
T |
1: 40,530,227 (GRCm39) |
D318V |
probably damaging |
Het |
| Il4i1 |
T |
C |
7: 44,486,082 (GRCm39) |
L22P |
probably damaging |
Het |
| Inpp5d |
C |
A |
1: 87,595,779 (GRCm39) |
T175N |
possibly damaging |
Het |
| Mthfd1 |
A |
G |
12: 76,350,523 (GRCm39) |
|
probably null |
Het |
| Or51f5 |
T |
C |
7: 102,423,962 (GRCm39) |
L77P |
possibly damaging |
Het |
| Or51q1 |
T |
C |
7: 103,628,609 (GRCm39) |
L76P |
probably damaging |
Het |
| Or5an1c |
T |
C |
19: 12,218,954 (GRCm39) |
I24V |
probably benign |
Het |
| Or6c1b |
A |
T |
10: 129,273,176 (GRCm39) |
D165V |
probably damaging |
Het |
| Pla2g4f |
T |
C |
2: 120,133,587 (GRCm39) |
S579G |
probably benign |
Het |
| Ppef2 |
T |
G |
5: 92,376,581 (GRCm39) |
S649R |
probably damaging |
Het |
| Prss43 |
G |
C |
9: 110,658,532 (GRCm39) |
Q277H |
probably damaging |
Het |
| Ramp2 |
TTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTG |
11: 101,137,371 (GRCm39) |
|
probably benign |
Het |
| Rusc2 |
T |
G |
4: 43,415,935 (GRCm39) |
S414A |
probably damaging |
Het |
| Sez6l |
A |
G |
5: 112,623,227 (GRCm39) |
L108P |
possibly damaging |
Het |
| Slc12a5 |
A |
G |
2: 164,810,351 (GRCm39) |
D10G |
probably benign |
Het |
| Slc1a7 |
A |
G |
4: 107,868,191 (GRCm39) |
E497G |
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,714,146 (GRCm39) |
D1108G |
probably benign |
Het |
| Spag8 |
T |
A |
4: 43,651,606 (GRCm39) |
S423C |
probably damaging |
Het |
| Tacc2 |
A |
G |
7: 130,336,724 (GRCm39) |
T2369A |
probably benign |
Het |
| Taok2 |
T |
C |
7: 126,470,030 (GRCm39) |
I933V |
possibly damaging |
Het |
| Tex9 |
C |
A |
9: 72,385,040 (GRCm39) |
Q265H |
possibly damaging |
Het |
| Trim69 |
T |
C |
2: 122,009,125 (GRCm39) |
V395A |
probably benign |
Het |
| Tusc1 |
C |
A |
4: 93,223,173 (GRCm39) |
R162L |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 38,004,479 (GRCm39) |
|
probably benign |
Het |
| Utp25 |
A |
C |
1: 192,810,810 (GRCm39) |
S64R |
possibly damaging |
Het |
| Zfyve28 |
C |
T |
5: 34,357,028 (GRCm39) |
M723I |
probably benign |
Het |
| Zmynd8 |
A |
T |
2: 165,657,371 (GRCm39) |
M533K |
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 |
|
|
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 |
|
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'- TCTTGAAGTCCTCCACCACG -3'
(R):5'- TGGACCTGTCATTTGCTTCG -3'
Sequencing Primer
(F):5'- GAAGTCCTCCACCACGTCCTG -3'
(R):5'- TGTACCAACACTGACTTGACTC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation