Incidental Mutation 'IGL01836:Krt73'
| ID |
154951 |
| 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 # |
IGL01836
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
101701743-101710781 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101704331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 403
(H403R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063292]
|
| AlphaFold |
Q6NXH9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063292
AA Change: H403R
PolyPhen 2
Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000065349
Gene: ENSMUSG00000063661
AA Change: H403R
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh6a |
A |
G |
3: 138,019,097 (GRCm39) |
|
probably benign |
Het |
| Atp1a1 |
C |
T |
3: 101,498,730 (GRCm39) |
G188R |
probably damaging |
Het |
| Cadps |
A |
G |
14: 12,522,311 (GRCm38) |
Y618H |
probably damaging |
Het |
| Dot1l |
T |
C |
10: 80,621,700 (GRCm39) |
S451P |
probably benign |
Het |
| Dpysl4 |
G |
A |
7: 138,676,089 (GRCm39) |
V294I |
possibly damaging |
Het |
| Ehmt1 |
T |
A |
2: 24,753,232 (GRCm39) |
|
probably null |
Het |
| Eps8 |
C |
T |
6: 137,460,539 (GRCm39) |
|
probably null |
Het |
| Gm7247 |
T |
A |
14: 51,602,853 (GRCm39) |
I63K |
probably damaging |
Het |
| Gsdme |
T |
A |
6: 50,199,769 (GRCm39) |
D270V |
probably damaging |
Het |
| Kel |
T |
A |
6: 41,674,372 (GRCm39) |
T353S |
possibly damaging |
Het |
| Mrnip |
A |
G |
11: 50,090,675 (GRCm39) |
T280A |
probably benign |
Het |
| Or1j14 |
C |
T |
2: 36,417,837 (GRCm39) |
Q138* |
probably null |
Het |
| Pkdrej |
A |
G |
15: 85,705,159 (GRCm39) |
L259P |
probably damaging |
Het |
| Plod2 |
T |
C |
9: 92,488,551 (GRCm39) |
|
probably benign |
Het |
| Rad54l2 |
A |
G |
9: 106,593,356 (GRCm39) |
S415P |
probably benign |
Het |
| Rag1 |
A |
T |
2: 101,472,239 (GRCm39) |
F968I |
probably damaging |
Het |
| Rreb1 |
T |
C |
13: 38,115,433 (GRCm39) |
S931P |
probably damaging |
Het |
| Sec23a |
T |
C |
12: 59,018,073 (GRCm39) |
I618V |
probably damaging |
Het |
| Smtnl1 |
A |
T |
2: 84,645,714 (GRCm39) |
F386I |
probably damaging |
Het |
| Sppl2b |
C |
T |
10: 80,697,220 (GRCm39) |
T30I |
probably benign |
Het |
| Srf |
T |
C |
17: 46,860,108 (GRCm39) |
|
probably benign |
Het |
| Tbc1d22b |
A |
G |
17: 29,818,932 (GRCm39) |
T429A |
probably damaging |
Het |
| Tcf20 |
A |
T |
15: 82,739,356 (GRCm39) |
D698E |
probably damaging |
Het |
| Tmem106c |
C |
A |
15: 97,867,567 (GRCm39) |
S250R |
probably benign |
Het |
| Tmprss3 |
A |
G |
17: 31,410,018 (GRCm39) |
S199P |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,492,060 (GRCm39) |
|
probably benign |
Het |
| Zfp595 |
A |
G |
13: 67,480,525 (GRCm39) |
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation