Incidental Mutation 'R0042:Krt4'
ID |
15463 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt4
|
Ensembl Gene |
ENSMUSG00000059668 |
Gene Name |
keratin 4 |
Synonyms |
Krt-2.4, K4, Krt2-4 |
MMRRC Submission |
038336-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.274)
|
Stock # |
R0042 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
101826970-101833170 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to G
at 101831187 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023797
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023797]
|
AlphaFold |
P07744 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023797
|
SMART Domains |
Protein: ENSMUSP00000023797 Gene: ENSMUSG00000059668
Domain | Start | End | E-Value | Type |
Pfam:Keratin_2_head
|
14 |
142 |
4.7e-37 |
PFAM |
Filament
|
145 |
458 |
1.61e-166 |
SMART |
low complexity region
|
465 |
511 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 81.9%
- 3x: 73.7%
- 10x: 53.7%
- 20x: 34.5%
|
Validation Efficiency |
94% (58/62) |
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 differentiated layers of the mucosal and esophageal epithelia with family member KRT13. Mutations in these genes have been associated with White Sponge Nevus, characterized by oral, esophageal, and anal leukoplakia. 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 display hyperplasia throughout the epithelium of the esophagus and tongue. Mice homozygous or heterozygous for a dominant mutation display oral leukoplakia and homozygotes display postnatal growth retardation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
C |
T |
4: 53,059,245 (GRCm39) |
|
probably benign |
Het |
Adgrf3 |
A |
G |
5: 30,402,426 (GRCm39) |
L534P |
probably damaging |
Het |
Ank2 |
T |
C |
3: 126,730,280 (GRCm39) |
D3568G |
probably damaging |
Het |
Atr |
T |
A |
9: 95,809,409 (GRCm39) |
|
probably benign |
Het |
Ccnb2 |
A |
G |
9: 70,326,335 (GRCm39) |
V34A |
probably benign |
Het |
Dmxl1 |
C |
A |
18: 49,997,102 (GRCm39) |
T466K |
probably benign |
Het |
Eya1 |
T |
C |
1: 14,254,713 (GRCm39) |
D373G |
probably damaging |
Het |
Fam120a |
A |
G |
13: 49,087,490 (GRCm39) |
V290A |
probably damaging |
Het |
Gpr179 |
C |
T |
11: 97,225,757 (GRCm39) |
V2133I |
probably benign |
Het |
Grb10 |
G |
T |
11: 11,886,798 (GRCm39) |
H435Q |
probably damaging |
Het |
Gzmm |
T |
C |
10: 79,530,399 (GRCm39) |
I190T |
probably benign |
Het |
H2-Q3 |
A |
G |
17: 35,578,823 (GRCm39) |
|
noncoding transcript |
Het |
Hspb7 |
A |
G |
4: 141,151,245 (GRCm39) |
E129G |
probably damaging |
Het |
Il17ra |
T |
C |
6: 120,449,086 (GRCm39) |
|
probably benign |
Het |
Itgb3 |
A |
G |
11: 104,557,966 (GRCm39) |
T787A |
possibly damaging |
Het |
Lgsn |
C |
T |
1: 31,229,534 (GRCm39) |
T85I |
probably benign |
Het |
Metap1 |
C |
T |
3: 138,177,918 (GRCm39) |
V217I |
probably benign |
Het |
Mib2 |
A |
T |
4: 155,743,897 (GRCm39) |
C48* |
probably null |
Het |
Mroh4 |
T |
A |
15: 74,482,154 (GRCm39) |
I768F |
probably damaging |
Het |
Npas3 |
T |
A |
12: 54,095,624 (GRCm39) |
D361E |
probably damaging |
Het |
P4hb |
G |
A |
11: 120,459,092 (GRCm39) |
R134C |
probably damaging |
Het |
Prr35 |
C |
A |
17: 26,166,956 (GRCm39) |
E194* |
probably null |
Het |
Rbl1 |
A |
G |
2: 157,017,624 (GRCm39) |
|
probably benign |
Het |
Rdh10 |
T |
A |
1: 16,178,260 (GRCm39) |
|
probably benign |
Het |
Spata31 |
A |
T |
13: 65,070,377 (GRCm39) |
I842L |
probably benign |
Het |
Stk32b |
A |
C |
5: 37,874,092 (GRCm39) |
D13E |
probably benign |
Het |
Svep1 |
T |
C |
4: 58,123,192 (GRCm39) |
D708G |
possibly damaging |
Het |
Taar6 |
T |
C |
10: 23,861,021 (GRCm39) |
D175G |
probably benign |
Het |
Tmod4 |
T |
C |
3: 95,037,099 (GRCm39) |
D164G |
possibly damaging |
Het |
Ttc23l |
A |
C |
15: 10,551,627 (GRCm39) |
L33W |
probably damaging |
Het |
Ttc39d |
T |
C |
17: 80,523,379 (GRCm39) |
Y13H |
probably benign |
Het |
Utp18 |
G |
T |
11: 93,766,684 (GRCm39) |
T309K |
probably damaging |
Het |
Vps11 |
G |
T |
9: 44,267,588 (GRCm39) |
Y341* |
probably null |
Het |
Vsig8 |
T |
C |
1: 172,387,925 (GRCm39) |
V5A |
possibly damaging |
Het |
|
Other mutations in Krt4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01323:Krt4
|
APN |
15 |
101,828,716 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02306:Krt4
|
APN |
15 |
101,829,740 (GRCm39) |
missense |
probably benign |
0.13 |
IGL02407:Krt4
|
APN |
15 |
101,829,740 (GRCm39) |
missense |
probably benign |
0.13 |
IGL02504:Krt4
|
APN |
15 |
101,827,727 (GRCm39) |
missense |
unknown |
|
R0042:Krt4
|
UTSW |
15 |
101,831,187 (GRCm39) |
splice site |
probably benign |
|
R0211:Krt4
|
UTSW |
15 |
101,831,217 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0363:Krt4
|
UTSW |
15 |
101,833,081 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2018:Krt4
|
UTSW |
15 |
101,829,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R2067:Krt4
|
UTSW |
15 |
101,833,099 (GRCm39) |
missense |
possibly damaging |
0.70 |
R2571:Krt4
|
UTSW |
15 |
101,829,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R3943:Krt4
|
UTSW |
15 |
101,829,685 (GRCm39) |
missense |
probably benign |
0.00 |
R3944:Krt4
|
UTSW |
15 |
101,829,685 (GRCm39) |
missense |
probably benign |
0.00 |
R5104:Krt4
|
UTSW |
15 |
101,828,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R5107:Krt4
|
UTSW |
15 |
101,831,226 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5579:Krt4
|
UTSW |
15 |
101,829,669 (GRCm39) |
missense |
probably benign |
0.01 |
R6052:Krt4
|
UTSW |
15 |
101,831,194 (GRCm39) |
critical splice donor site |
probably null |
|
R6429:Krt4
|
UTSW |
15 |
101,831,229 (GRCm39) |
missense |
probably benign |
0.00 |
R7371:Krt4
|
UTSW |
15 |
101,828,823 (GRCm39) |
missense |
probably damaging |
1.00 |
R8017:Krt4
|
UTSW |
15 |
101,828,722 (GRCm39) |
missense |
probably damaging |
0.99 |
R8019:Krt4
|
UTSW |
15 |
101,828,722 (GRCm39) |
missense |
probably damaging |
0.99 |
R8112:Krt4
|
UTSW |
15 |
101,828,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R8175:Krt4
|
UTSW |
15 |
101,828,984 (GRCm39) |
critical splice donor site |
probably null |
|
R8824:Krt4
|
UTSW |
15 |
101,829,077 (GRCm39) |
missense |
|
|
R9733:Krt4
|
UTSW |
15 |
101,827,564 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2012-12-21 |