Incidental Mutation 'R5140:Krt36'
| ID |
396412 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt36
|
| Ensembl Gene |
ENSMUSG00000020916 |
| Gene Name |
keratin 36 |
| Synonyms |
Krt1-5, HRa-1, keratin 5, Krt1-22 |
| MMRRC Submission |
042726-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R5140 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
99992833-99996452 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 99994328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 250
(V250M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107416]
|
| AlphaFold |
B1AQ75 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107416
AA Change: V250M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103039
Gene: ENSMUSG00000020916
AA Change: V250M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
36 |
N/A |
INTRINSIC |
|
Filament
|
92 |
403 |
4.05e-163 |
SMART |
|
low complexity region
|
425 |
443 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127883
|
| Meta Mutation Damage Score |
0.1364 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
98% (59/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hyperkeratosis affecting the scales of the tail skin and the filiform papillae of the tongue. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,752,154 (GRCm39) |
I405N |
probably damaging |
Het |
| Abhd17b |
T |
C |
19: 21,661,545 (GRCm39) |
L244P |
probably damaging |
Het |
| Aebp2 |
T |
A |
6: 140,579,532 (GRCm39) |
C34* |
probably null |
Het |
| Arhgap33 |
A |
G |
7: 30,227,726 (GRCm39) |
V491A |
probably damaging |
Het |
| Cacul1 |
C |
T |
19: 60,551,619 (GRCm39) |
R201Q |
probably benign |
Het |
| Cald1 |
T |
A |
6: 34,730,515 (GRCm39) |
N77K |
probably damaging |
Het |
| Clcn6 |
A |
C |
4: 148,122,774 (GRCm39) |
|
probably benign |
Het |
| Copb1 |
A |
T |
7: 113,846,035 (GRCm39) |
H178Q |
probably benign |
Het |
| Dnah17 |
C |
T |
11: 117,977,771 (GRCm39) |
V1854I |
probably damaging |
Het |
| Dnajc16 |
T |
G |
4: 141,491,994 (GRCm39) |
T610P |
possibly damaging |
Het |
| Enpp1 |
T |
C |
10: 24,528,750 (GRCm39) |
N624S |
possibly damaging |
Het |
| F2 |
CAGAAAG |
CAG |
2: 91,465,302 (GRCm39) |
|
probably benign |
Het |
| Foxn1 |
T |
C |
11: 78,252,459 (GRCm39) |
T310A |
probably benign |
Het |
| Galnt16 |
T |
A |
12: 80,628,073 (GRCm39) |
D256E |
possibly damaging |
Het |
| Gbp11 |
T |
C |
5: 105,478,919 (GRCm39) |
D173G |
probably damaging |
Het |
| Glmn |
A |
G |
5: 107,718,066 (GRCm39) |
S284P |
probably damaging |
Het |
| Gm3985 |
A |
G |
8: 33,380,693 (GRCm39) |
|
noncoding transcript |
Het |
| Hs3st6 |
A |
T |
17: 24,977,521 (GRCm39) |
M334L |
probably benign |
Het |
| Idua |
T |
A |
5: 108,828,180 (GRCm39) |
D155E |
probably damaging |
Het |
| Kdm6b |
T |
C |
11: 69,290,881 (GRCm39) |
|
probably benign |
Het |
| Kiss1r |
T |
C |
10: 79,757,461 (GRCm39) |
F272L |
probably damaging |
Het |
| Krt35 |
T |
C |
11: 99,985,343 (GRCm39) |
K233E |
probably damaging |
Het |
| Lhpp |
T |
C |
7: 132,307,361 (GRCm39) |
Y253H |
probably damaging |
Het |
| Npas3 |
T |
A |
12: 53,547,897 (GRCm39) |
L51* |
probably null |
Het |
| Or10ac1 |
T |
C |
6: 42,515,449 (GRCm39) |
H169R |
probably benign |
Het |
| Or1j18 |
T |
A |
2: 36,624,510 (GRCm39) |
M59K |
possibly damaging |
Het |
| Or4a74 |
T |
C |
2: 89,439,627 (GRCm39) |
Y273C |
probably damaging |
Het |
| Or4c119 |
T |
C |
2: 88,987,451 (GRCm39) |
K23E |
probably benign |
Het |
| Or56b2 |
T |
C |
7: 104,338,107 (GRCm39) |
M295T |
probably benign |
Het |
| Pcdhb9 |
T |
G |
18: 37,534,186 (GRCm39) |
V60G |
probably benign |
Het |
| Prkce |
T |
C |
17: 86,789,570 (GRCm39) |
V239A |
probably benign |
Het |
| Ralgapa1 |
C |
T |
12: 55,822,937 (GRCm39) |
C293Y |
probably damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,712,459 (GRCm39) |
R1804Q |
probably damaging |
Het |
| Rnf26 |
C |
A |
9: 44,024,071 (GRCm39) |
|
probably null |
Het |
| Safb2 |
T |
C |
17: 56,884,901 (GRCm39) |
D178G |
probably benign |
Het |
| Scn9a |
C |
T |
2: 66,395,511 (GRCm39) |
V178M |
possibly damaging |
Het |
| Sergef |
A |
G |
7: 46,285,026 (GRCm39) |
|
probably benign |
Het |
| Serpinb9 |
G |
A |
13: 33,190,544 (GRCm39) |
G7R |
probably benign |
Het |
| Setd2 |
C |
A |
9: 110,380,197 (GRCm39) |
D1337E |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,030,449 (GRCm39) |
M222K |
probably benign |
Het |
| Slc25a40 |
T |
C |
5: 8,480,486 (GRCm39) |
Y79H |
probably damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,133,155 (GRCm39) |
M297T |
probably damaging |
Het |
| Sparcl1 |
C |
T |
5: 104,233,629 (GRCm39) |
M573I |
probably damaging |
Het |
| Spcs1 |
A |
G |
14: 30,722,570 (GRCm39) |
L83S |
probably benign |
Het |
| Sult1c2 |
T |
C |
17: 54,276,743 (GRCm39) |
N106S |
probably benign |
Het |
| Szt2 |
C |
T |
4: 118,244,178 (GRCm39) |
R1309Q |
possibly damaging |
Het |
| Ube3c |
T |
A |
5: 29,840,709 (GRCm39) |
F695I |
probably damaging |
Het |
| Uimc1 |
A |
G |
13: 55,223,330 (GRCm39) |
L314P |
probably damaging |
Het |
| Usp17le |
C |
T |
7: 104,418,645 (GRCm39) |
E166K |
probably damaging |
Het |
| Vmn2r92 |
G |
A |
17: 18,372,312 (GRCm39) |
D41N |
probably benign |
Het |
|
| Other mutations in Krt36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00978:Krt36
|
APN |
11 |
99,993,774 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01737:Krt36
|
APN |
11 |
99,994,946 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02388:Krt36
|
APN |
11 |
99,995,990 (GRCm39) |
nonsense |
probably null |
|
|
IGL02985:Krt36
|
APN |
11 |
99,994,005 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0393:Krt36
|
UTSW |
11 |
99,994,940 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0617:Krt36
|
UTSW |
11 |
99,993,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0930:Krt36
|
UTSW |
11 |
99,994,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1166:Krt36
|
UTSW |
11 |
99,993,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1201:Krt36
|
UTSW |
11 |
99,994,883 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1587:Krt36
|
UTSW |
11 |
99,993,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1750:Krt36
|
UTSW |
11 |
99,994,884 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1826:Krt36
|
UTSW |
11 |
99,993,856 (GRCm39) |
splice site |
probably benign |
|
|
R1846:Krt36
|
UTSW |
11 |
99,996,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2208:Krt36
|
UTSW |
11 |
99,993,765 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4303:Krt36
|
UTSW |
11 |
99,994,239 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5719:Krt36
|
UTSW |
11 |
99,994,987 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5944:Krt36
|
UTSW |
11 |
99,996,139 (GRCm39) |
missense |
probably benign |
|
|
R6188:Krt36
|
UTSW |
11 |
99,993,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6271:Krt36
|
UTSW |
11 |
99,995,298 (GRCm39) |
nonsense |
probably null |
|
|
R6809:Krt36
|
UTSW |
11 |
99,996,335 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6856:Krt36
|
UTSW |
11 |
99,994,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7153:Krt36
|
UTSW |
11 |
99,995,972 (GRCm39) |
nonsense |
probably null |
|
|
R7602:Krt36
|
UTSW |
11 |
99,993,786 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7822:Krt36
|
UTSW |
11 |
99,994,966 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7894:Krt36
|
UTSW |
11 |
99,996,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8234:Krt36
|
UTSW |
11 |
99,995,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8480:Krt36
|
UTSW |
11 |
99,993,635 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8904:Krt36
|
UTSW |
11 |
99,996,173 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8969:Krt36
|
UTSW |
11 |
99,993,129 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8987:Krt36
|
UTSW |
11 |
99,994,372 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9297:Krt36
|
UTSW |
11 |
99,994,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9314:Krt36
|
UTSW |
11 |
99,994,227 (GRCm39) |
nonsense |
probably null |
|
|
R9387:Krt36
|
UTSW |
11 |
99,994,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9585:Krt36
|
UTSW |
11 |
99,994,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Krt36
|
UTSW |
11 |
99,995,015 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGCTCCTCGGTCTACAGAG -3'
(R):5'- GCATGTTCAAAGAGGTCAGC -3'
Sequencing Primer
(F):5'- CTCCTCGGTCTACAGAGAAGGAG -3'
(R):5'- AAGAGGTCAGCTCTTTTATCTCATGG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation