Incidental Mutation 'IGL01997:Krt72'
| ID |
182097 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Krt72
|
| Ensembl Gene |
ENSMUSG00000056605 |
| Gene Name |
keratin 72 |
| Synonyms |
Krt72-ps, K6irs2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
IGL01997
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
101684607-101694895 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101693315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 200
(S200P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071104]
|
| AlphaFold |
Q6IME9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071104
AA Change: S200P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000065922
Gene: ENSMUSG00000056605
AA Change: S200P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Keratin_2_head
|
59 |
130 |
3.1e-17 |
PFAM |
|
Filament
|
133 |
446 |
6.9e-157 |
SMART |
|
low complexity region
|
454 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
519 |
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. The type II keratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This gene encodes a type II keratin that is specifically expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q12-q13. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
G |
A |
1: 179,583,027 (GRCm39) |
T83I |
probably damaging |
Het |
| Aoah |
A |
T |
13: 21,184,108 (GRCm39) |
M391L |
probably benign |
Het |
| Apc |
A |
G |
18: 34,448,476 (GRCm39) |
T1757A |
probably benign |
Het |
| B4galt5 |
A |
G |
2: 167,143,261 (GRCm39) |
Y388H |
probably benign |
Het |
| Cyp3a25 |
A |
T |
5: 145,931,766 (GRCm39) |
M114K |
possibly damaging |
Het |
| Dcbld1 |
A |
G |
10: 52,193,206 (GRCm39) |
E246G |
probably damaging |
Het |
| Fstl4 |
T |
A |
11: 53,053,881 (GRCm39) |
Y404* |
probably null |
Het |
| Gnat3 |
G |
T |
5: 18,204,721 (GRCm39) |
E125* |
probably null |
Het |
| Hspa5 |
C |
T |
2: 34,662,327 (GRCm39) |
|
probably benign |
Het |
| Mab21l3 |
G |
A |
3: 101,725,955 (GRCm39) |
T347I |
probably damaging |
Het |
| Map2k7 |
A |
G |
8: 4,293,442 (GRCm39) |
E104G |
probably benign |
Het |
| Map3k9 |
T |
C |
12: 81,819,471 (GRCm39) |
D261G |
probably damaging |
Het |
| Mepe |
C |
T |
5: 104,485,466 (GRCm39) |
P202L |
probably damaging |
Het |
| Mill1 |
G |
A |
7: 17,989,814 (GRCm39) |
G32D |
probably damaging |
Het |
| Mmp20 |
T |
G |
9: 7,639,261 (GRCm39) |
M143R |
probably benign |
Het |
| Mms19 |
A |
T |
19: 41,944,970 (GRCm39) |
L302H |
probably damaging |
Het |
| Myh13 |
T |
A |
11: 67,257,992 (GRCm39) |
I1728K |
probably benign |
Het |
| Nsun2 |
C |
T |
13: 69,771,365 (GRCm39) |
P290L |
probably damaging |
Het |
| Nwd2 |
A |
T |
5: 63,961,938 (GRCm39) |
R507S |
probably damaging |
Het |
| Os9 |
T |
A |
10: 126,955,312 (GRCm39) |
H147L |
probably benign |
Het |
| Piezo1 |
T |
C |
8: 123,215,070 (GRCm39) |
|
probably benign |
Het |
| Plekhf1 |
A |
T |
7: 37,920,752 (GRCm39) |
V272D |
probably damaging |
Het |
| Pnisr |
T |
C |
4: 21,871,537 (GRCm39) |
I419T |
possibly damaging |
Het |
| Ppp1r3d |
G |
T |
2: 178,055,447 (GRCm39) |
T185K |
possibly damaging |
Het |
| Ppp2r2a |
C |
T |
14: 67,253,968 (GRCm39) |
S400N |
probably benign |
Het |
| Rpl21 |
T |
C |
5: 146,772,418 (GRCm39) |
I96T |
probably benign |
Het |
| S1pr3 |
C |
T |
13: 51,573,751 (GRCm39) |
R311W |
probably damaging |
Het |
| Senp5 |
T |
C |
16: 31,782,288 (GRCm39) |
K736R |
probably damaging |
Het |
| Slfn9 |
T |
C |
11: 82,878,503 (GRCm39) |
I209V |
possibly damaging |
Het |
| Traf3ip1 |
T |
A |
1: 91,435,292 (GRCm39) |
|
probably null |
Het |
| Tyk2 |
A |
G |
9: 21,021,790 (GRCm39) |
F879L |
probably damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,316,373 (GRCm39) |
D482G |
possibly damaging |
Het |
| Vmn2r65 |
A |
G |
7: 84,589,978 (GRCm39) |
F646S |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,709,370 (GRCm39) |
S1772R |
probably damaging |
Het |
| Vwde |
C |
T |
6: 13,215,705 (GRCm39) |
C117Y |
probably damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,291,174 (GRCm39) |
I2144V |
probably benign |
Het |
|
| Other mutations in Krt72 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00329:Krt72
|
APN |
15 |
101,693,434 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00568:Krt72
|
APN |
15 |
101,689,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00966:Krt72
|
APN |
15 |
101,689,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02858:Krt72
|
APN |
15 |
101,690,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03260:Krt72
|
APN |
15 |
101,686,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0062:Krt72
|
UTSW |
15 |
101,694,443 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0062:Krt72
|
UTSW |
15 |
101,694,443 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0601:Krt72
|
UTSW |
15 |
101,694,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0669:Krt72
|
UTSW |
15 |
101,686,740 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1396:Krt72
|
UTSW |
15 |
101,694,440 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1501:Krt72
|
UTSW |
15 |
101,686,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1598:Krt72
|
UTSW |
15 |
101,688,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1779:Krt72
|
UTSW |
15 |
101,689,364 (GRCm39) |
missense |
probably benign |
|
|
R1796:Krt72
|
UTSW |
15 |
101,689,987 (GRCm39) |
splice site |
probably null |
|
|
R4259:Krt72
|
UTSW |
15 |
101,686,692 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4835:Krt72
|
UTSW |
15 |
101,689,508 (GRCm39) |
splice site |
probably null |
|
|
R4871:Krt72
|
UTSW |
15 |
101,694,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6246:Krt72
|
UTSW |
15 |
101,689,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6513:Krt72
|
UTSW |
15 |
101,685,187 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6520:Krt72
|
UTSW |
15 |
101,689,481 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8294:Krt72
|
UTSW |
15 |
101,694,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8324:Krt72
|
UTSW |
15 |
101,690,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8476:Krt72
|
UTSW |
15 |
101,686,701 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8982:Krt72
|
UTSW |
15 |
101,690,059 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9054:Krt72
|
UTSW |
15 |
101,694,836 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9679:Krt72
|
UTSW |
15 |
101,685,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Krt72
|
UTSW |
15 |
101,686,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation