Incidental Mutation 'IGL02388:Krt36'
ID |
291618 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Krt36
|
Ensembl Gene |
ENSMUSG00000020916 |
Gene Name |
keratin 36 |
Synonyms |
Krt1-5, HRa-1, keratin 5, Krt1-22 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
IGL02388
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
99992833-99996452 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 99995990 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 145
(K145*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103039
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107416]
|
AlphaFold |
B1AQ75 |
Predicted Effect |
probably null
Transcript: ENSMUST00000107416
AA Change: K145*
|
SMART Domains |
Protein: ENSMUSP00000103039 Gene: ENSMUSG00000020916 AA Change: K145*
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
|
Coding Region Coverage |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930597O21Rik |
A |
T |
6: 66,873,097 (GRCm39) |
|
probably benign |
Het |
Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
Asphd1 |
A |
T |
7: 126,545,884 (GRCm39) |
|
probably benign |
Het |
Ccdc77 |
G |
A |
6: 120,308,858 (GRCm39) |
A301V |
probably benign |
Het |
Cep350 |
G |
T |
1: 155,829,499 (GRCm39) |
T135K |
probably benign |
Het |
Chrna7 |
A |
T |
7: 62,757,439 (GRCm39) |
D153E |
probably damaging |
Het |
Clec4b2 |
G |
T |
6: 123,179,187 (GRCm39) |
|
probably null |
Het |
Cyp2c67 |
T |
C |
19: 39,631,799 (GRCm39) |
N133D |
probably benign |
Het |
Dglucy |
T |
C |
12: 100,823,257 (GRCm39) |
I484T |
probably damaging |
Het |
Dtna |
G |
T |
18: 23,730,571 (GRCm39) |
M319I |
probably benign |
Het |
E2f5 |
T |
A |
3: 14,653,340 (GRCm39) |
M152K |
probably benign |
Het |
Emsy |
A |
T |
7: 98,290,873 (GRCm39) |
M58K |
probably damaging |
Het |
Epha1 |
A |
G |
6: 42,341,950 (GRCm39) |
Y367H |
probably damaging |
Het |
Etv1 |
A |
G |
12: 38,831,798 (GRCm39) |
S32G |
possibly damaging |
Het |
Fam114a1 |
A |
T |
5: 65,166,323 (GRCm39) |
|
probably benign |
Het |
Fbxo30 |
T |
A |
10: 11,166,122 (GRCm39) |
N281K |
probably benign |
Het |
Galnt12 |
G |
T |
4: 47,117,941 (GRCm39) |
R412L |
probably damaging |
Het |
Gm5786 |
T |
A |
12: 59,128,382 (GRCm39) |
|
noncoding transcript |
Het |
Gm9845 |
T |
C |
3: 39,412,616 (GRCm39) |
|
noncoding transcript |
Het |
Hecw2 |
A |
G |
1: 53,964,858 (GRCm39) |
V656A |
probably benign |
Het |
Hpse2 |
A |
T |
19: 43,282,692 (GRCm39) |
V187D |
probably damaging |
Het |
Itsn2 |
T |
A |
12: 4,679,557 (GRCm39) |
M122K |
possibly damaging |
Het |
Kcnj11 |
A |
G |
7: 45,749,213 (GRCm39) |
S37P |
probably benign |
Het |
Kif13b |
T |
C |
14: 65,037,807 (GRCm39) |
I1491T |
probably damaging |
Het |
Loxhd1 |
A |
G |
18: 77,456,833 (GRCm39) |
I499V |
probably benign |
Het |
Map3k4 |
G |
T |
17: 12,490,497 (GRCm39) |
N311K |
probably damaging |
Het |
Mical2 |
C |
A |
7: 111,934,620 (GRCm39) |
H880N |
probably benign |
Het |
Myo1d |
A |
T |
11: 80,528,823 (GRCm39) |
C666* |
probably null |
Het |
Nlrx1 |
C |
T |
9: 44,175,302 (GRCm39) |
R158H |
probably benign |
Het |
Or10ag53 |
T |
A |
2: 87,082,295 (GRCm39) |
Y5N |
probably benign |
Het |
Or10q1 |
C |
A |
19: 13,726,994 (GRCm39) |
H175N |
possibly damaging |
Het |
Or13a17 |
A |
G |
7: 140,271,024 (GRCm39) |
T69A |
probably benign |
Het |
Or1e21 |
A |
T |
11: 73,344,106 (GRCm39) |
L311I |
probably benign |
Het |
Or4a78 |
T |
C |
2: 89,497,316 (GRCm39) |
S305G |
probably benign |
Het |
Pdgfrl |
A |
G |
8: 41,430,094 (GRCm39) |
R154G |
probably benign |
Het |
Pitpnb |
T |
C |
5: 111,478,699 (GRCm39) |
F7S |
possibly damaging |
Het |
Ppm1n |
G |
A |
7: 19,013,097 (GRCm39) |
R285C |
probably damaging |
Het |
Prdm11 |
A |
T |
2: 92,805,957 (GRCm39) |
I331N |
possibly damaging |
Het |
Ptprb |
C |
T |
10: 116,203,426 (GRCm39) |
P2066L |
probably damaging |
Het |
Ric8b |
T |
C |
10: 84,828,135 (GRCm39) |
|
probably benign |
Het |
Setx |
A |
G |
2: 29,063,665 (GRCm39) |
I2320M |
probably damaging |
Het |
Skil |
C |
A |
3: 31,165,787 (GRCm39) |
S368* |
probably null |
Het |
Slc1a5 |
G |
T |
7: 16,519,644 (GRCm39) |
|
probably null |
Het |
Trpm7 |
A |
C |
2: 126,661,811 (GRCm39) |
V1079G |
possibly damaging |
Het |
Tulp1 |
A |
G |
17: 28,577,633 (GRCm39) |
F2L |
probably damaging |
Het |
Ulbp3 |
A |
T |
10: 3,075,050 (GRCm39) |
|
noncoding transcript |
Het |
Zbtb17 |
A |
G |
4: 141,189,224 (GRCm39) |
Y48C |
probably damaging |
Het |
Zfp605 |
T |
A |
5: 110,275,506 (GRCm39) |
I208N |
possibly 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 |
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 |
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 |
|
Posted On |
2015-04-16 |