Incidental Mutation 'IGL02076:Krt73'
| ID |
185979 |
| 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 # |
IGL02076
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
101701743-101710781 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 101708370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 229
(T229I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063292]
|
| AlphaFold |
Q6NXH9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063292
AA Change: T229I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065349
Gene: ENSMUSG00000063661
AA Change: T229I
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
T |
C |
5: 8,186,900 (GRCm39) |
Y407C |
probably damaging |
Het |
| Capn5 |
T |
A |
7: 97,780,950 (GRCm39) |
K276* |
probably null |
Het |
| Cct4 |
T |
C |
11: 22,952,394 (GRCm39) |
V495A |
probably damaging |
Het |
| Dapk3 |
A |
G |
10: 81,026,131 (GRCm39) |
K141E |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,313,385 (GRCm39) |
N4264S |
probably damaging |
Het |
| Dok1 |
A |
G |
6: 83,009,812 (GRCm39) |
L99P |
probably damaging |
Het |
| Ebf3 |
A |
G |
7: 136,833,030 (GRCm39) |
V215A |
possibly damaging |
Het |
| Efnb2 |
A |
G |
8: 8,710,488 (GRCm39) |
S43P |
probably benign |
Het |
| Jhy |
G |
A |
9: 40,828,674 (GRCm39) |
Q411* |
probably null |
Het |
| Mroh8 |
A |
G |
2: 157,113,882 (GRCm39) |
|
probably null |
Het |
| Olfm1 |
A |
G |
2: 28,112,637 (GRCm39) |
T223A |
probably damaging |
Het |
| Oprk1 |
T |
A |
1: 5,672,512 (GRCm39) |
D216E |
probably damaging |
Het |
| Or4b1d |
T |
A |
2: 89,969,159 (GRCm39) |
E108V |
probably damaging |
Het |
| Or8g23 |
A |
G |
9: 38,971,881 (GRCm39) |
L27P |
probably damaging |
Het |
| Pim1 |
T |
A |
17: 29,712,777 (GRCm39) |
I230N |
probably damaging |
Het |
| Ppm1f |
A |
C |
16: 16,732,035 (GRCm39) |
T162P |
possibly damaging |
Het |
| Rbbp8 |
T |
C |
18: 11,838,876 (GRCm39) |
Y186H |
probably damaging |
Het |
| Sema4a |
C |
T |
3: 88,357,829 (GRCm39) |
R225H |
probably damaging |
Het |
| Slc15a2 |
A |
C |
16: 36,582,743 (GRCm39) |
F215C |
probably damaging |
Het |
| Slc25a1 |
A |
G |
16: 17,745,490 (GRCm39) |
C41R |
possibly damaging |
Het |
| Stil |
C |
A |
4: 114,880,834 (GRCm39) |
H459Q |
probably benign |
Het |
| Tbc1d32 |
A |
G |
10: 55,964,499 (GRCm39) |
I900T |
possibly damaging |
Het |
| Tmem33 |
T |
C |
5: 67,443,446 (GRCm39) |
F208L |
probably damaging |
Het |
| Utp25 |
T |
C |
1: 192,812,367 (GRCm39) |
H31R |
probably damaging |
Het |
| Vmn2r72 |
A |
G |
7: 85,387,575 (GRCm39) |
V663A |
probably damaging |
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation