Incidental Mutation 'IGL02878:Krt73'
ID |
362691 |
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 # |
IGL02878
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
101701743-101710781 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101707261 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 309
(Y309C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065349
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063292]
|
AlphaFold |
Q6NXH9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063292
AA Change: Y309C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000065349 Gene: ENSMUSG00000063661 AA Change: Y309C
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
C |
11: 110,029,155 (GRCm39) |
D801G |
probably benign |
Het |
Abce1 |
T |
C |
8: 80,429,636 (GRCm39) |
H95R |
possibly damaging |
Het |
Axl |
T |
A |
7: 25,458,302 (GRCm39) |
M818L |
probably damaging |
Het |
Cckbr |
C |
T |
7: 105,083,238 (GRCm39) |
A147V |
probably damaging |
Het |
Cdc40 |
T |
C |
10: 40,719,118 (GRCm39) |
D337G |
probably damaging |
Het |
Cep70 |
T |
C |
9: 99,163,160 (GRCm39) |
|
probably benign |
Het |
Cpeb1 |
C |
T |
7: 81,007,074 (GRCm39) |
V318I |
probably damaging |
Het |
Crlf1 |
G |
A |
8: 70,956,290 (GRCm39) |
|
probably null |
Het |
Dnah6 |
A |
T |
6: 73,009,570 (GRCm39) |
D3740E |
probably benign |
Het |
Dnajc28 |
C |
T |
16: 91,413,329 (GRCm39) |
R329Q |
possibly damaging |
Het |
Ehmt2 |
T |
C |
17: 35,129,743 (GRCm39) |
Y946H |
probably damaging |
Het |
Gapdhs |
C |
T |
7: 30,429,304 (GRCm39) |
|
probably benign |
Het |
Gpr61 |
A |
T |
3: 108,057,344 (GRCm39) |
L439H |
probably damaging |
Het |
Klf9 |
G |
T |
19: 23,119,633 (GRCm39) |
|
probably benign |
Het |
Lrrk1 |
T |
C |
7: 65,912,311 (GRCm39) |
M1750V |
probably benign |
Het |
Mc1r |
G |
T |
8: 124,134,369 (GRCm39) |
G41C |
probably damaging |
Het |
Mecr |
C |
A |
4: 131,582,019 (GRCm39) |
A133E |
probably damaging |
Het |
Mon2 |
T |
C |
10: 122,842,896 (GRCm39) |
N1511S |
probably benign |
Het |
Mrpl13 |
A |
T |
15: 55,403,595 (GRCm39) |
L106* |
probably null |
Het |
Mrpl48 |
A |
T |
7: 100,223,720 (GRCm39) |
V1E |
possibly damaging |
Het |
Myo1c |
T |
A |
11: 75,559,859 (GRCm39) |
W683R |
possibly damaging |
Het |
Myo9a |
G |
A |
9: 59,815,583 (GRCm39) |
|
probably null |
Het |
Myrfl |
A |
T |
10: 116,613,310 (GRCm39) |
I831K |
possibly damaging |
Het |
Neurl4 |
T |
A |
11: 69,797,657 (GRCm39) |
Y671N |
probably damaging |
Het |
Opalin |
A |
T |
19: 41,056,108 (GRCm39) |
D62E |
probably benign |
Het |
Or1j18 |
A |
T |
2: 36,624,489 (GRCm39) |
D52V |
probably damaging |
Het |
Or7a41 |
G |
T |
10: 78,871,392 (GRCm39) |
C254F |
probably benign |
Het |
Otoa |
T |
C |
7: 120,743,076 (GRCm39) |
F768L |
probably damaging |
Het |
Pde4b |
T |
A |
4: 102,458,836 (GRCm39) |
N497K |
probably damaging |
Het |
Plcl2 |
T |
A |
17: 50,914,383 (GRCm39) |
L464Q |
probably damaging |
Het |
Rfc3 |
A |
G |
5: 151,566,379 (GRCm39) |
*357R |
probably null |
Het |
Ryr2 |
A |
G |
13: 11,933,205 (GRCm39) |
S89P |
probably benign |
Het |
Sema3b |
C |
T |
9: 107,478,192 (GRCm39) |
V398I |
probably damaging |
Het |
Setd3 |
A |
G |
12: 108,074,814 (GRCm39) |
|
probably null |
Het |
Sgsh |
T |
C |
11: 119,237,384 (GRCm39) |
D410G |
probably damaging |
Het |
Slc9a3 |
G |
T |
13: 74,313,476 (GRCm39) |
E730* |
probably null |
Het |
Sptb |
A |
G |
12: 76,667,527 (GRCm39) |
S857P |
probably benign |
Het |
Tmem132c |
T |
C |
5: 127,640,154 (GRCm39) |
L775P |
probably damaging |
Het |
Togaram1 |
T |
C |
12: 65,039,400 (GRCm39) |
V1158A |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,607,222 (GRCm39) |
F17934L |
probably damaging |
Het |
Ube3b |
T |
C |
5: 114,542,778 (GRCm39) |
|
probably null |
Het |
Ydjc |
A |
G |
16: 16,965,469 (GRCm39) |
E111G |
possibly damaging |
Het |
Zp3r |
T |
A |
1: 130,510,588 (GRCm39) |
H443L |
probably benign |
Het |
|
Other mutations in Krt73 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01082:Krt73
|
APN |
15 |
101,707,372 (GRCm39) |
critical splice acceptor site |
probably null |
|
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 |
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 |
2015-12-18 |