Incidental Mutation 'IGL01082:Krt73'
| ID |
52778 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Krt73
|
| Ensembl Gene |
ENSMUSG00000063661 |
| Gene Name |
keratin 73 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.161)
|
| Stock # |
IGL01082
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
101701743-101710781 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 101707372 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063292]
|
| AlphaFold |
Q6NXH9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000063292
|
| SMART Domains |
Protein: ENSMUSP00000065349
Gene: ENSMUSG00000063661
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
57 |
N/A |
INTRINSIC |
|
Pfam:Keratin_2_head
|
59 |
127 |
1.4e-19 |
PFAM |
|
Filament
|
130 |
443 |
5.39e-159 |
SMART |
|
low complexity region
|
450 |
461 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
481 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
A |
1: 71,353,273 (GRCm39) |
S723F |
probably damaging |
Het |
| Cacng5 |
C |
T |
11: 107,772,531 (GRCm39) |
V106I |
probably benign |
Het |
| Ccdc116 |
A |
G |
16: 16,959,856 (GRCm39) |
S278P |
probably damaging |
Het |
| Cep152 |
A |
T |
2: 125,411,465 (GRCm39) |
|
probably benign |
Het |
| Cftr |
T |
C |
6: 18,226,102 (GRCm39) |
V350A |
probably damaging |
Het |
| Dsc2 |
A |
T |
18: 20,176,849 (GRCm39) |
N399K |
probably damaging |
Het |
| Eif3d |
T |
C |
15: 77,843,943 (GRCm39) |
T468A |
probably damaging |
Het |
| Fam110b |
C |
T |
4: 5,799,461 (GRCm39) |
A293V |
possibly damaging |
Het |
| Flrt1 |
T |
C |
19: 7,073,339 (GRCm39) |
T403A |
probably benign |
Het |
| H3c6 |
A |
G |
13: 23,746,548 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,267,429 (GRCm39) |
V609E |
possibly damaging |
Het |
| Klb |
G |
A |
5: 65,533,283 (GRCm39) |
V531I |
possibly damaging |
Het |
| Mcm2 |
A |
G |
6: 88,864,859 (GRCm39) |
V539A |
probably benign |
Het |
| Myb |
A |
G |
10: 21,028,843 (GRCm39) |
V85A |
probably damaging |
Het |
| Ndufs1 |
T |
C |
1: 63,203,976 (GRCm39) |
E102G |
probably damaging |
Het |
| Nr5a2 |
C |
A |
1: 136,773,206 (GRCm39) |
A499S |
probably benign |
Het |
| Opa1 |
A |
T |
16: 29,436,933 (GRCm39) |
|
probably benign |
Het |
| Or14j5 |
T |
A |
17: 38,161,514 (GRCm39) |
S10R |
probably benign |
Het |
| Or4a47 |
A |
T |
2: 89,674,407 (GRCm39) |
|
probably benign |
Het |
| Or4c11b |
T |
C |
2: 88,625,637 (GRCm39) |
F304L |
probably benign |
Het |
| Pcnx1 |
G |
A |
12: 82,037,372 (GRCm39) |
E1877K |
possibly damaging |
Het |
| Sel1l |
A |
G |
12: 91,778,682 (GRCm39) |
V711A |
probably benign |
Het |
| Slc22a16 |
A |
G |
10: 40,449,860 (GRCm39) |
T120A |
probably benign |
Het |
| Slc26a1 |
G |
T |
5: 108,819,744 (GRCm39) |
T485N |
possibly damaging |
Het |
| Sp100 |
T |
C |
1: 85,597,741 (GRCm39) |
V201A |
possibly damaging |
Het |
| Spz1 |
T |
G |
13: 92,712,029 (GRCm39) |
K149T |
probably damaging |
Het |
| Stxbp5l |
A |
G |
16: 37,024,940 (GRCm39) |
S553P |
possibly damaging |
Het |
| Szt2 |
A |
G |
4: 118,254,821 (GRCm39) |
S290P |
probably damaging |
Het |
| Tbc1d10c |
A |
G |
19: 4,239,026 (GRCm39) |
Y165H |
probably damaging |
Het |
| Tnxb |
C |
A |
17: 34,933,584 (GRCm39) |
Q2335K |
probably damaging |
Het |
| Trim33 |
T |
C |
3: 103,234,175 (GRCm39) |
I471T |
possibly damaging |
Het |
| Vsig10 |
A |
G |
5: 117,472,970 (GRCm39) |
I188V |
probably benign |
Het |
| Zfp109 |
A |
T |
7: 23,933,784 (GRCm39) |
L45Q |
probably damaging |
Het |
|
| Other mutations in Krt73 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01768:Krt73
|
APN |
15 |
101,707,291 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01836:Krt73
|
APN |
15 |
101,704,331 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02058:Krt73
|
APN |
15 |
101,710,456 (GRCm39) |
missense |
probably benign |
|
|
IGL02063:Krt73
|
APN |
15 |
101,704,204 (GRCm39) |
splice site |
probably benign |
|
|
IGL02076:Krt73
|
APN |
15 |
101,708,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02878:Krt73
|
APN |
15 |
101,707,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03127:Krt73
|
APN |
15 |
101,704,275 (GRCm39) |
missense |
probably benign |
|
|
R0032:Krt73
|
UTSW |
15 |
101,702,487 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0109:Krt73
|
UTSW |
15 |
101,704,830 (GRCm39) |
nonsense |
probably null |
|
|
R0143:Krt73
|
UTSW |
15 |
101,709,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Krt73
|
UTSW |
15 |
101,710,451 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0233:Krt73
|
UTSW |
15 |
101,710,451 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0254:Krt73
|
UTSW |
15 |
101,708,324 (GRCm39) |
splice site |
probably benign |
|
|
R0256:Krt73
|
UTSW |
15 |
101,710,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0497:Krt73
|
UTSW |
15 |
101,710,665 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1592:Krt73
|
UTSW |
15 |
101,710,674 (GRCm39) |
nonsense |
probably null |
|
|
R1681:Krt73
|
UTSW |
15 |
101,710,482 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1696:Krt73
|
UTSW |
15 |
101,708,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1766:Krt73
|
UTSW |
15 |
101,702,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2031:Krt73
|
UTSW |
15 |
101,707,199 (GRCm39) |
splice site |
probably benign |
|
|
R2171:Krt73
|
UTSW |
15 |
101,709,345 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4674:Krt73
|
UTSW |
15 |
101,710,510 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4777:Krt73
|
UTSW |
15 |
101,702,436 (GRCm39) |
missense |
probably benign |
|
|
R4869:Krt73
|
UTSW |
15 |
101,704,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4892:Krt73
|
UTSW |
15 |
101,704,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5794:Krt73
|
UTSW |
15 |
101,703,264 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6807:Krt73
|
UTSW |
15 |
101,704,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6885:Krt73
|
UTSW |
15 |
101,704,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7489:Krt73
|
UTSW |
15 |
101,702,294 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7682:Krt73
|
UTSW |
15 |
101,710,480 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9167:Krt73
|
UTSW |
15 |
101,702,405 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9795:Krt73
|
UTSW |
15 |
101,710,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Krt73
|
UTSW |
15 |
101,702,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation