Incidental Mutation 'R9387:Krt36'
| ID |
710394 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R9387 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
99992833-99996452 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 99994906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 222
(E222V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107416]
|
| AlphaFold |
B1AQ75 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107416
AA Change: E222V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103039
Gene: ENSMUSG00000020916
AA Change: E222V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
100% (44/44) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,553,255 (GRCm39) |
D152G |
probably benign |
Het |
| Abcb1b |
G |
A |
5: 8,875,614 (GRCm39) |
V596I |
probably benign |
Het |
| Acss3 |
A |
G |
10: 106,959,255 (GRCm39) |
S64P |
probably damaging |
Het |
| Aggf1 |
T |
C |
13: 95,507,461 (GRCm39) |
Y108C |
probably damaging |
Het |
| Arpc5l |
T |
C |
2: 38,903,195 (GRCm39) |
V73A |
probably benign |
Het |
| Atp5f1d |
A |
G |
10: 79,981,134 (GRCm39) |
D126G |
probably damaging |
Het |
| Carmil3 |
T |
A |
14: 55,731,869 (GRCm39) |
L199* |
probably null |
Het |
| Cblb |
A |
G |
16: 51,853,515 (GRCm39) |
R44G |
probably benign |
Het |
| Cdcp3 |
A |
G |
7: 130,863,620 (GRCm39) |
I1208V |
unknown |
Het |
| Chaf1b |
T |
G |
16: 93,689,629 (GRCm39) |
F225V |
probably benign |
Het |
| Creb3l2 |
A |
T |
6: 37,356,751 (GRCm39) |
N105K |
probably damaging |
Het |
| Dagla |
A |
T |
19: 10,248,465 (GRCm39) |
I65N |
probably damaging |
Het |
| Dclre1c |
T |
G |
2: 3,425,342 (GRCm39) |
F30V |
probably damaging |
Het |
| Dicer1 |
A |
G |
12: 104,695,499 (GRCm39) |
V144A |
possibly damaging |
Het |
| Dlg5 |
C |
T |
14: 24,197,168 (GRCm39) |
G1593D |
probably damaging |
Het |
| Enpp3 |
A |
T |
10: 24,711,990 (GRCm39) |
M1K |
probably null |
Het |
| Fmod |
C |
A |
1: 133,968,514 (GRCm39) |
H185N |
probably benign |
Het |
| Gon4l |
A |
G |
3: 88,802,260 (GRCm39) |
E957G |
probably benign |
Het |
| Hat1 |
A |
G |
2: 71,264,512 (GRCm39) |
M310V |
possibly damaging |
Het |
| Klhl31 |
A |
T |
9: 77,557,826 (GRCm39) |
T181S |
probably benign |
Het |
| Lrrc27 |
A |
T |
7: 138,807,837 (GRCm39) |
K315* |
probably null |
Het |
| Mak16 |
T |
G |
8: 31,650,794 (GRCm39) |
D232A |
probably damaging |
Het |
| Mepce |
A |
G |
5: 137,783,322 (GRCm39) |
S335P |
possibly damaging |
Het |
| Mki67 |
T |
A |
7: 135,302,378 (GRCm39) |
R885S |
probably damaging |
Het |
| Mmrn1 |
G |
A |
6: 60,935,176 (GRCm39) |
W224* |
probably null |
Het |
| Mroh8 |
T |
A |
2: 157,098,386 (GRCm39) |
Q254L |
possibly damaging |
Het |
| Mup18 |
A |
T |
4: 61,590,854 (GRCm39) |
V101E |
probably damaging |
Het |
| Nbea |
T |
C |
3: 55,898,460 (GRCm39) |
K1508R |
probably benign |
Het |
| Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
| Or5g9 |
A |
G |
2: 85,551,806 (GRCm39) |
Y19C |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,066,192 (GRCm39) |
I286F |
probably damaging |
Het |
| Pcdhb8 |
A |
T |
18: 37,488,751 (GRCm39) |
Q143L |
probably benign |
Het |
| Pibf1 |
T |
C |
14: 99,448,436 (GRCm39) |
S632P |
probably damaging |
Het |
| Senp6 |
A |
G |
9: 79,999,646 (GRCm39) |
K100R |
probably damaging |
Het |
| Slc5a9 |
A |
G |
4: 111,750,864 (GRCm39) |
S81P |
probably damaging |
Het |
| Sox8 |
T |
C |
17: 25,786,338 (GRCm39) |
Q455R |
probably damaging |
Het |
| Stard13 |
A |
T |
5: 151,113,483 (GRCm39) |
M26K |
probably benign |
Het |
| Sulf1 |
T |
A |
1: 12,908,778 (GRCm39) |
M597K |
probably benign |
Het |
| Ugt2a3 |
T |
A |
5: 87,484,832 (GRCm39) |
D64V |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,589,097 (GRCm39) |
|
probably null |
Het |
| Vav3 |
A |
T |
3: 109,565,291 (GRCm39) |
H729L |
probably benign |
Het |
| Vmn1r226 |
T |
A |
17: 20,907,831 (GRCm39) |
L21Q |
probably damaging |
Het |
| Wdtc1 |
A |
G |
4: 133,036,058 (GRCm39) |
|
probably null |
Het |
| Zfp984 |
A |
G |
4: 147,840,002 (GRCm39) |
M283T |
probably benign |
Het |
| Zik1 |
A |
G |
7: 10,224,623 (GRCm39) |
L158P |
probably damaging |
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 |
|
R5140:Krt36
|
UTSW |
11 |
99,994,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- TTCAGTTGCACCATCCTGG -3'
(R):5'- TGACTCCAAGTTAGCTATGGC -3'
Sequencing Primer
(F):5'- TGTGACTGCAGGCAAATGACTTC -3'
(R):5'- AGGCTGACATCAATGGTC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation