Incidental Mutation 'R9585:Krt36'
| ID |
722763 |
| 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: 0.057)
|
| Stock # |
R9585 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
99992833-99996452 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 99994892 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 227
(L227F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107416]
|
| AlphaFold |
B1AQ75 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107416
AA Change: L227F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103039
Gene: ENSMUSG00000020916
AA Change: L227F
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
A |
3: 124,199,993 (GRCm39) |
D533V |
possibly damaging |
Het |
| 4933411K16Rik |
A |
G |
19: 42,041,352 (GRCm39) |
E161G |
probably benign |
Het |
| Abca12 |
A |
G |
1: 71,342,745 (GRCm39) |
S912P |
probably damaging |
Het |
| Abca3 |
G |
A |
17: 24,619,486 (GRCm39) |
M1196I |
probably benign |
Het |
| Adprs |
A |
T |
4: 126,211,786 (GRCm39) |
D175E |
probably benign |
Het |
| Asrgl1 |
A |
G |
19: 9,090,398 (GRCm39) |
L316P |
probably benign |
Het |
| Avl9 |
T |
A |
6: 56,734,299 (GRCm39) |
M626K |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,916,265 (GRCm39) |
N1727S |
probably damaging |
Het |
| Casp14 |
G |
A |
10: 78,549,194 (GRCm39) |
R251W |
probably damaging |
Het |
| Cfap69 |
A |
G |
5: 5,631,269 (GRCm39) |
I919T |
possibly damaging |
Het |
| Cibar2 |
T |
C |
8: 120,901,450 (GRCm39) |
E85G |
probably null |
Het |
| Cps1 |
T |
A |
1: 67,195,341 (GRCm39) |
M254K |
probably damaging |
Het |
| Ctc1 |
A |
G |
11: 68,925,490 (GRCm39) |
E1009G |
probably damaging |
Het |
| Ddx25 |
A |
T |
9: 35,455,009 (GRCm39) |
Y426* |
probably null |
Het |
| Dok3 |
A |
G |
13: 55,672,057 (GRCm39) |
F207S |
probably damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Fcrla |
A |
T |
1: 170,749,868 (GRCm39) |
M1K |
probably null |
Het |
| Heatr4 |
A |
T |
12: 84,014,472 (GRCm39) |
S588R |
probably damaging |
Het |
| Iglv3 |
A |
G |
16: 19,059,960 (GRCm39) |
*123Q |
probably null |
Het |
| Igsf9b |
T |
C |
9: 27,233,532 (GRCm39) |
I344T |
probably damaging |
Het |
| Il18 |
T |
C |
9: 50,490,661 (GRCm39) |
S99P |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,051,250 (GRCm39) |
S501P |
probably benign |
Het |
| Lvrn |
T |
C |
18: 47,011,411 (GRCm39) |
|
probably null |
Het |
| Myo18a |
T |
A |
11: 77,709,495 (GRCm39) |
M535K |
probably benign |
Het |
| Myocd |
T |
A |
11: 65,095,192 (GRCm39) |
S158C |
probably damaging |
Het |
| Naip6 |
A |
T |
13: 100,436,577 (GRCm39) |
C649S |
probably damaging |
Het |
| Oasl2 |
T |
C |
5: 115,035,901 (GRCm39) |
V59A |
probably damaging |
Het |
| Obscn |
C |
A |
11: 58,965,831 (GRCm39) |
V2942F |
probably benign |
Het |
| Or10a49 |
T |
A |
7: 108,467,552 (GRCm39) |
T270S |
probably benign |
Het |
| Or5l14 |
T |
A |
2: 87,792,919 (GRCm39) |
T106S |
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,354,438 (GRCm39) |
T18A |
probably benign |
Het |
| Pcf11 |
A |
T |
7: 92,311,006 (GRCm39) |
D327E |
probably benign |
Het |
| Per3 |
G |
T |
4: 151,097,138 (GRCm39) |
Q796K |
probably benign |
Het |
| Pex5l |
T |
C |
3: 33,060,091 (GRCm39) |
T227A |
probably benign |
Het |
| Phf11b |
G |
T |
14: 59,568,704 (GRCm39) |
P70T |
probably benign |
Het |
| Pkd1l1 |
T |
G |
11: 8,804,390 (GRCm39) |
I2184L |
|
Het |
| Polr3a |
A |
T |
14: 24,502,289 (GRCm39) |
M1288K |
probably damaging |
Het |
| Pth1r |
T |
A |
9: 110,573,847 (GRCm39) |
R3S |
probably benign |
Het |
| Ptprk |
C |
A |
10: 28,369,147 (GRCm39) |
Y706* |
probably null |
Het |
| Rmi2 |
C |
T |
16: 10,703,983 (GRCm39) |
T108I |
probably benign |
Het |
| Rrbp1 |
T |
C |
2: 143,799,479 (GRCm39) |
N1076S |
probably benign |
Het |
| Setd3 |
A |
C |
12: 108,074,814 (GRCm39) |
|
probably null |
Het |
| Slc4a1 |
A |
G |
11: 102,247,915 (GRCm39) |
Y360H |
probably benign |
Het |
| Sox21 |
A |
G |
14: 118,472,993 (GRCm39) |
S19P |
possibly damaging |
Het |
| Speer4a2 |
T |
C |
5: 26,291,542 (GRCm39) |
H88R |
possibly damaging |
Het |
| Stx18 |
T |
A |
5: 38,249,916 (GRCm39) |
N76K |
possibly damaging |
Het |
| Sv2c |
T |
C |
13: 96,122,466 (GRCm39) |
T437A |
probably benign |
Het |
| Trrap |
G |
A |
5: 144,777,330 (GRCm39) |
V3043M |
probably damaging |
Het |
| Vps50 |
T |
A |
6: 3,600,348 (GRCm39) |
S936T |
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 |
|
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 |
|
|
R9387:Krt36
|
UTSW |
11 |
99,994,906 (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'- TCTGACTCCAAGTTAGCTATGGC -3'
Sequencing Primer
(F):5'- TGTGACTGCAGGCAAATGACTTC -3'
(R):5'- GGTAGAGGCTGACATCAATG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation