Incidental Mutation 'IGL02229:Krt7'
| ID |
285423 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Krt7
|
| Ensembl Gene |
ENSMUSG00000023039 |
| Gene Name |
keratin 7 |
| Synonyms |
K7, D15Wsu77e, Krt2-7, Cytokeratin 7 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02229
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
101310284-101325687 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 101325497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 442
(A442D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068904]
[ENSMUST00000081945]
|
| AlphaFold |
Q9DCV7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068904
AA Change: A442D
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000069900
Gene: ENSMUSG00000023039
AA Change: A442D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
42 |
N/A |
INTRINSIC |
|
Pfam:Keratin_2_head
|
43 |
81 |
3.2e-12 |
PFAM |
|
Filament
|
84 |
396 |
1.95e-174 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081945
|
| SMART Domains |
Protein: ENSMUSP00000080613
Gene: ENSMUSG00000047641
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Keratin_2_head
|
3 |
107 |
1e-12 |
PFAM |
|
Filament
|
110 |
421 |
6.45e-148 |
SMART |
|
low complexity region
|
425 |
440 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131069
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183401
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins 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 type II cytokeratin is specifically expressed in the simple epithelia lining the cavities of the internal organs and in the gland ducts and blood vessels. The genes encoding the type II cytokeratins are clustered in a region of chromosome 12q12-q13. Alternative splicing may result in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased cell proliferation of urothelial cells without histological evidence of hyperplasia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
A |
G |
5: 64,055,696 (GRCm39) |
D144G |
probably damaging |
Het |
| Adgrg1 |
G |
T |
8: 95,730,139 (GRCm39) |
D114Y |
probably damaging |
Het |
| Ago4 |
T |
A |
4: 126,405,325 (GRCm39) |
N416I |
probably benign |
Het |
| Aoc1 |
C |
T |
6: 48,882,843 (GRCm39) |
Q240* |
probably null |
Het |
| Atl1 |
G |
A |
12: 69,972,799 (GRCm39) |
V40I |
probably benign |
Het |
| Cdh2 |
T |
C |
18: 16,757,810 (GRCm39) |
I591V |
probably benign |
Het |
| Cic |
C |
A |
7: 24,990,375 (GRCm39) |
Q1959K |
probably damaging |
Het |
| Cmya5 |
C |
T |
13: 93,229,194 (GRCm39) |
E1965K |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cspp1 |
T |
C |
1: 10,153,781 (GRCm39) |
S397P |
probably damaging |
Het |
| D130043K22Rik |
T |
C |
13: 25,059,907 (GRCm39) |
Y593H |
probably damaging |
Het |
| Dck |
A |
G |
5: 88,921,964 (GRCm39) |
Y142C |
probably damaging |
Het |
| Eea1 |
A |
T |
10: 95,854,046 (GRCm39) |
E568V |
probably damaging |
Het |
| Gabra3 |
A |
G |
X: 71,544,683 (GRCm39) |
|
probably null |
Het |
| Gucy2f |
A |
G |
X: 140,962,984 (GRCm39) |
S342P |
probably benign |
Het |
| Hbb-bh1 |
T |
A |
7: 103,492,032 (GRCm39) |
I61F |
possibly damaging |
Het |
| Hook1 |
T |
C |
4: 95,889,488 (GRCm39) |
S235P |
possibly damaging |
Het |
| Hoxd12 |
G |
A |
2: 74,506,278 (GRCm39) |
R230H |
probably damaging |
Het |
| Iglc2 |
C |
T |
16: 19,017,483 (GRCm39) |
A41T |
probably benign |
Het |
| Il1r1 |
A |
G |
1: 40,352,518 (GRCm39) |
K566E |
probably damaging |
Het |
| Kcns3 |
A |
T |
12: 11,142,093 (GRCm39) |
M202K |
probably damaging |
Het |
| Ltk |
C |
T |
2: 119,589,054 (GRCm39) |
R200H |
probably benign |
Het |
| Macf1 |
G |
T |
4: 123,403,619 (GRCm39) |
D582E |
probably damaging |
Het |
| Mbnl3 |
A |
T |
X: 50,228,218 (GRCm39) |
Y69N |
probably damaging |
Het |
| Mpp1 |
T |
C |
X: 74,165,034 (GRCm39) |
|
probably benign |
Het |
| Myo18b |
A |
G |
5: 113,025,976 (GRCm39) |
S25P |
unknown |
Het |
| Nsd3 |
A |
G |
8: 26,200,775 (GRCm39) |
N1289S |
probably damaging |
Het |
| Or8d1 |
T |
A |
9: 38,766,712 (GRCm39) |
M118K |
possibly damaging |
Het |
| Pacs2 |
A |
G |
12: 113,020,420 (GRCm39) |
|
probably benign |
Het |
| Rab3gap2 |
A |
G |
1: 184,991,580 (GRCm39) |
K689E |
possibly damaging |
Het |
| Sva |
T |
A |
6: 42,019,156 (GRCm39) |
C109S |
probably damaging |
Het |
| Taf3 |
T |
C |
2: 9,957,645 (GRCm39) |
N174S |
probably damaging |
Het |
| Tbc1d5 |
A |
T |
17: 51,159,628 (GRCm39) |
M393K |
probably damaging |
Het |
| Tmem242 |
A |
T |
17: 5,461,682 (GRCm39) |
S129T |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,701,513 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Krt7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00657:Krt7
|
APN |
15 |
101,324,966 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01025:Krt7
|
APN |
15 |
101,321,302 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL03366:Krt7
|
APN |
15 |
101,325,491 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0256:Krt7
|
UTSW |
15 |
101,321,190 (GRCm39) |
nonsense |
probably null |
|
|
R1648:Krt7
|
UTSW |
15 |
101,310,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1696:Krt7
|
UTSW |
15 |
101,321,307 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1779:Krt7
|
UTSW |
15 |
101,321,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1837:Krt7
|
UTSW |
15 |
101,317,463 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2045:Krt7
|
UTSW |
15 |
101,321,365 (GRCm39) |
splice site |
probably null |
|
|
R2510:Krt7
|
UTSW |
15 |
101,310,538 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2511:Krt7
|
UTSW |
15 |
101,310,538 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4041:Krt7
|
UTSW |
15 |
101,321,161 (GRCm39) |
splice site |
probably null |
|
|
R4729:Krt7
|
UTSW |
15 |
101,318,439 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4964:Krt7
|
UTSW |
15 |
101,311,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5032:Krt7
|
UTSW |
15 |
101,310,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6023:Krt7
|
UTSW |
15 |
101,310,278 (GRCm39) |
intron |
probably benign |
|
|
R6270:Krt7
|
UTSW |
15 |
101,317,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7019:Krt7
|
UTSW |
15 |
101,311,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7645:Krt7
|
UTSW |
15 |
101,310,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7773:Krt7
|
UTSW |
15 |
101,311,913 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7844:Krt7
|
UTSW |
15 |
101,310,515 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9473:Krt7
|
UTSW |
15 |
101,318,409 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0026:Krt7
|
UTSW |
15 |
101,310,653 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Krt7
|
UTSW |
15 |
101,321,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation