Incidental Mutation 'R0256:Krt73'
| ID |
34755 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt73
|
| Ensembl Gene |
ENSMUSG00000063661 |
| Gene Name |
keratin 73 |
| Synonyms |
|
| MMRRC Submission |
038487-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.161)
|
| Stock # |
R0256 (G1)
|
| Quality Score |
172 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
101701743-101710781 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 101710371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 121
(D121A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063292]
|
| AlphaFold |
Q6NXH9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063292
AA Change: D121A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065349
Gene: ENSMUSG00000063661
AA Change: D121A
| 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 |
|
| Meta Mutation Damage Score |
0.4688 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.6%
- 10x: 95.8%
- 20x: 92.8%
|
| Validation Efficiency |
98% (48/49) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
G |
T |
10: 29,098,252 (GRCm39) |
L186F |
probably damaging |
Het |
| Abce1 |
A |
C |
8: 80,412,572 (GRCm39) |
|
probably null |
Het |
| Acvrl1 |
A |
T |
15: 101,035,002 (GRCm39) |
N254Y |
probably damaging |
Het |
| Apip |
T |
A |
2: 102,918,916 (GRCm39) |
M72K |
possibly damaging |
Het |
| Arg1 |
A |
G |
10: 24,792,356 (GRCm39) |
Y188H |
probably benign |
Het |
| Armc3 |
A |
T |
2: 19,274,027 (GRCm39) |
N354Y |
probably damaging |
Het |
| Arrdc5 |
A |
G |
17: 56,601,382 (GRCm39) |
F248L |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,302,576 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
G |
T |
3: 36,971,922 (GRCm39) |
V552L |
probably benign |
Het |
| Ccdc154 |
C |
T |
17: 25,389,606 (GRCm39) |
A490V |
probably benign |
Het |
| Cdh6 |
T |
C |
15: 13,053,868 (GRCm39) |
|
probably benign |
Het |
| Chmp2b |
G |
T |
16: 65,337,078 (GRCm39) |
T193K |
probably benign |
Het |
| Clca3a1 |
A |
T |
3: 144,436,640 (GRCm39) |
N814K |
probably damaging |
Het |
| Cmtr1 |
T |
C |
17: 29,916,098 (GRCm39) |
L576P |
probably damaging |
Het |
| Fhl5 |
T |
C |
4: 25,213,624 (GRCm39) |
H104R |
probably benign |
Het |
| Foxk1 |
A |
G |
5: 142,439,436 (GRCm39) |
|
probably benign |
Het |
| Gm11596 |
T |
A |
11: 99,683,542 (GRCm39) |
T193S |
unknown |
Het |
| Gm15217 |
A |
T |
14: 46,617,853 (GRCm39) |
|
probably benign |
Het |
| Hic2 |
A |
G |
16: 17,075,377 (GRCm39) |
I69V |
probably benign |
Het |
| Ivl |
T |
C |
3: 92,479,150 (GRCm39) |
D305G |
probably damaging |
Het |
| Kcnn2 |
A |
G |
18: 45,725,472 (GRCm39) |
T323A |
probably damaging |
Het |
| Krt7 |
C |
T |
15: 101,321,190 (GRCm39) |
Q336* |
probably null |
Het |
| Mok |
T |
C |
12: 110,774,539 (GRCm39) |
D216G |
probably damaging |
Het |
| Muc17 |
A |
G |
5: 137,175,539 (GRCm39) |
C44R |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,395,132 (GRCm39) |
Y46C |
unknown |
Het |
| Muc5b |
T |
C |
7: 141,396,995 (GRCm39) |
F223L |
unknown |
Het |
| Noct |
A |
G |
3: 51,157,895 (GRCm39) |
D411G |
probably damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or5j1 |
T |
C |
2: 86,879,400 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or6c76b |
A |
T |
10: 129,692,906 (GRCm39) |
D173V |
probably damaging |
Het |
| Pigv |
T |
C |
4: 133,393,062 (GRCm39) |
H36R |
probably damaging |
Het |
| Plscr3 |
A |
G |
11: 69,740,880 (GRCm39) |
K239E |
probably damaging |
Het |
| Prkag3 |
T |
C |
1: 74,780,330 (GRCm39) |
D445G |
probably benign |
Het |
| Ramp1 |
A |
T |
1: 91,124,641 (GRCm39) |
|
probably benign |
Het |
| Ror1 |
T |
A |
4: 100,266,942 (GRCm39) |
H214Q |
probably benign |
Het |
| Selenbp2 |
A |
T |
3: 94,607,008 (GRCm39) |
H156L |
probably benign |
Het |
| Slc28a3 |
T |
C |
13: 58,721,314 (GRCm39) |
T284A |
probably benign |
Het |
| Slc35a1 |
T |
C |
4: 34,668,962 (GRCm39) |
T284A |
probably benign |
Het |
| Smco2 |
A |
T |
6: 146,763,244 (GRCm39) |
I184F |
probably damaging |
Het |
| Son |
A |
G |
16: 91,453,472 (GRCm39) |
M740V |
possibly damaging |
Het |
| Stil |
T |
A |
4: 114,880,882 (GRCm39) |
N475K |
possibly damaging |
Het |
| Sval3 |
A |
G |
6: 41,949,839 (GRCm39) |
D122G |
probably damaging |
Het |
| Tnks |
A |
G |
8: 35,328,701 (GRCm39) |
M623T |
probably benign |
Het |
| Zfp142 |
A |
G |
1: 74,617,317 (GRCm39) |
V235A |
probably benign |
Het |
| Zfp423 |
A |
T |
8: 88,500,262 (GRCm39) |
C1053* |
probably null |
Het |
| Zfp648 |
T |
A |
1: 154,081,414 (GRCm39) |
D524E |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATTTTGCACCTCCCAAGGCTAC -3'
(R):5'- CCCAGGAGCATCTCCTTCAATGTG -3'
Sequencing Primer
(F):5'- CTATGTCCTGGAAAAGGGTAGCATC -3'
(R):5'- GATATGGGTTTGGCCGGAAT -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation