Incidental Mutation 'IGL01949:Krt5'
| ID |
180996 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Krt5
|
| Ensembl Gene |
ENSMUSG00000061527 |
| Gene Name |
keratin 5 |
| Synonyms |
Tfip8, Krt2-5, 3300001P10Rik, K5 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01949
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
101615505-101621333 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101619048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 278
(M278L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023709]
|
| AlphaFold |
Q922U2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023709
AA Change: M278L
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000023709
Gene: ENSMUSG00000061527
AA Change: M278L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Keratin_2_head
|
16 |
158 |
3.6e-44 |
PFAM |
|
Filament
|
161 |
474 |
1.58e-174 |
SMART |
|
low complexity region
|
483 |
577 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198689
|
| 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 basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die within the first hour after birth. They have a loose, fragile epidermal layer and abnormal epithelium in parts of the digestive tract. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
C |
A |
15: 94,223,987 (GRCm39) |
R1247L |
probably benign |
Het |
| Atp2a3 |
T |
A |
11: 72,872,723 (GRCm39) |
M757K |
probably damaging |
Het |
| Dusp5 |
T |
C |
19: 53,525,904 (GRCm39) |
I182T |
probably damaging |
Het |
| Fuca1 |
T |
A |
4: 135,650,420 (GRCm39) |
|
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hap1 |
G |
T |
11: 100,239,588 (GRCm39) |
D610E |
probably damaging |
Het |
| Hoxa6 |
T |
A |
6: 52,183,511 (GRCm39) |
Y178F |
possibly damaging |
Het |
| Ighmbp2 |
A |
C |
19: 3,315,538 (GRCm39) |
D627E |
probably benign |
Het |
| Itgae |
T |
C |
11: 73,009,010 (GRCm39) |
I497T |
probably benign |
Het |
| Katnip |
G |
A |
7: 125,361,014 (GRCm39) |
W108* |
probably null |
Het |
| Kbtbd3 |
A |
G |
9: 4,331,066 (GRCm39) |
D480G |
possibly damaging |
Het |
| Kmt2b |
A |
T |
7: 30,276,586 (GRCm39) |
|
probably null |
Het |
| Krtap4-9 |
G |
A |
11: 99,676,391 (GRCm39) |
|
probably benign |
Het |
| Myl12a |
T |
C |
17: 71,303,709 (GRCm39) |
D56G |
probably benign |
Het |
| Or2g25 |
T |
C |
17: 37,970,357 (GRCm39) |
Y289C |
probably damaging |
Het |
| Pdgfra |
C |
A |
5: 75,331,326 (GRCm39) |
H310Q |
probably damaging |
Het |
| Pglyrp2 |
G |
T |
17: 32,635,080 (GRCm39) |
|
probably null |
Het |
| Polk |
C |
T |
13: 96,620,046 (GRCm39) |
S718N |
probably benign |
Het |
| Ppip5k1 |
T |
A |
2: 121,168,341 (GRCm39) |
H687L |
probably benign |
Het |
| Pram1 |
A |
T |
17: 33,860,309 (GRCm39) |
Q292L |
probably damaging |
Het |
| Prodh2 |
A |
G |
7: 30,209,190 (GRCm39) |
|
probably null |
Het |
| Rgs9 |
A |
T |
11: 109,150,660 (GRCm39) |
|
probably null |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Stk-ps2 |
A |
G |
1: 46,069,148 (GRCm39) |
|
noncoding transcript |
Het |
| Svep1 |
C |
T |
4: 58,176,006 (GRCm39) |
G298R |
probably damaging |
Het |
| Troap |
T |
C |
15: 98,979,102 (GRCm39) |
S341P |
probably benign |
Het |
| Ugt3a1 |
T |
C |
15: 9,335,815 (GRCm39) |
F12S |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp236 |
G |
T |
18: 82,642,521 (GRCm39) |
T1123K |
probably damaging |
Het |
|
| Other mutations in Krt5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00475:Krt5
|
APN |
15 |
101,621,076 (GRCm39) |
missense |
unknown |
|
|
IGL03013:Krt5
|
APN |
15 |
101,620,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03286:Krt5
|
APN |
15 |
101,615,983 (GRCm39) |
missense |
unknown |
|
|
R1598:Krt5
|
UTSW |
15 |
101,620,876 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1697:Krt5
|
UTSW |
15 |
101,619,020 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1967:Krt5
|
UTSW |
15 |
101,620,094 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2143:Krt5
|
UTSW |
15 |
101,620,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2438:Krt5
|
UTSW |
15 |
101,620,093 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4633:Krt5
|
UTSW |
15 |
101,620,042 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4771:Krt5
|
UTSW |
15 |
101,617,494 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4918:Krt5
|
UTSW |
15 |
101,618,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5622:Krt5
|
UTSW |
15 |
101,617,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6797:Krt5
|
UTSW |
15 |
101,621,076 (GRCm39) |
missense |
unknown |
|
|
R6873:Krt5
|
UTSW |
15 |
101,621,312 (GRCm39) |
start gained |
probably benign |
|
|
R7808:Krt5
|
UTSW |
15 |
101,617,453 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8010:Krt5
|
UTSW |
15 |
101,620,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8252:Krt5
|
UTSW |
15 |
101,620,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8696:Krt5
|
UTSW |
15 |
101,618,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8889:Krt5
|
UTSW |
15 |
101,619,185 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8892:Krt5
|
UTSW |
15 |
101,619,185 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9468:Krt5
|
UTSW |
15 |
101,615,980 (GRCm39) |
missense |
unknown |
|
|
R9578:Krt5
|
UTSW |
15 |
101,620,153 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9696:Krt5
|
UTSW |
15 |
101,616,141 (GRCm39) |
missense |
unknown |
|
|
X0019:Krt5
|
UTSW |
15 |
101,620,803 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2014-05-07 |
Incidental Mutation