Incidental Mutation 'R3878:Krt14'
| ID |
276955 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt14
|
| Ensembl Gene |
ENSMUSG00000045545 |
| Gene Name |
keratin 14 |
| Synonyms |
Krt-1.14, K14, Krt1-14, epidermolysis bullosa simplex, Dowling-Meara, Koebner, Cytokeratin 14 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3878 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
100093988-100098336 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 100097915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 123
(V123M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007272
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007272]
|
| AlphaFold |
Q61781 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007272
AA Change: V123M
PolyPhen 2
Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000007272
Gene: ENSMUSG00000045545
AA Change: V123M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
29 |
N/A |
INTRINSIC |
|
Filament
|
120 |
431 |
5.67e-176 |
SMART |
|
low complexity region
|
433 |
450 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137265
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for targeted null mutations develop extensive skin blistering after birth and die by 2 days of age. If keratin 16 is also expressed in skin, development is normal but later alopecia, chronic skin ulcers and stratified epithelial defects occur. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020A23Rik |
C |
T |
2: 130,247,560 (GRCm39) |
T32M |
probably benign |
Het |
| A2ml1 |
T |
C |
6: 128,531,324 (GRCm39) |
S915G |
probably benign |
Het |
| Ablim1 |
T |
C |
19: 57,025,642 (GRCm39) |
|
probably null |
Het |
| Atosb |
T |
G |
4: 43,035,867 (GRCm39) |
H288P |
probably damaging |
Het |
| Cadm2 |
C |
T |
16: 66,612,329 (GRCm39) |
E78K |
probably damaging |
Het |
| Ceacam5 |
C |
T |
7: 17,484,506 (GRCm39) |
P416L |
probably damaging |
Het |
| Chsy3 |
T |
C |
18: 59,542,845 (GRCm39) |
F661S |
probably damaging |
Het |
| Clstn3 |
G |
A |
6: 124,434,901 (GRCm39) |
T338I |
probably damaging |
Het |
| Ctif |
A |
G |
18: 75,653,048 (GRCm39) |
I403T |
probably damaging |
Het |
| Dnaaf9 |
T |
C |
2: 130,620,423 (GRCm39) |
R237G |
possibly damaging |
Het |
| Eprs1 |
T |
A |
1: 185,148,150 (GRCm39) |
|
probably null |
Het |
| Frs2 |
A |
C |
10: 116,914,815 (GRCm39) |
S35A |
probably benign |
Het |
| Gpr155 |
C |
T |
2: 73,198,736 (GRCm39) |
W394* |
probably null |
Het |
| Ift140 |
G |
A |
17: 25,247,918 (GRCm39) |
V259M |
probably benign |
Het |
| Igkv9-124 |
A |
T |
6: 67,919,191 (GRCm39) |
S74T |
probably benign |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Nebl |
T |
C |
2: 17,398,063 (GRCm39) |
T457A |
possibly damaging |
Het |
| Nlrp4g |
A |
G |
9: 124,349,362 (GRCm38) |
|
noncoding transcript |
Het |
| Nsa2 |
C |
G |
13: 97,268,542 (GRCm39) |
G175A |
probably benign |
Het |
| Or8k40 |
T |
C |
2: 86,584,972 (GRCm39) |
T37A |
probably benign |
Het |
| Pax1 |
A |
T |
2: 147,204,228 (GRCm39) |
|
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,376,262 (GRCm39) |
E1291G |
probably benign |
Het |
| Relb |
G |
A |
7: 19,351,769 (GRCm39) |
H115Y |
probably damaging |
Het |
| Rnase10 |
A |
G |
14: 51,246,889 (GRCm39) |
E52G |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Slc14a2 |
C |
T |
18: 78,202,289 (GRCm39) |
V614I |
probably benign |
Het |
| Slc20a2 |
T |
C |
8: 23,058,399 (GRCm39) |
L645P |
possibly damaging |
Het |
| Smoc2 |
A |
G |
17: 14,545,879 (GRCm39) |
D56G |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,247,782 (GRCm39) |
S789P |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 36,030,401 (GRCm39) |
|
probably null |
Het |
| Tm9sf3 |
A |
G |
19: 41,235,152 (GRCm39) |
V169A |
probably damaging |
Het |
| Trbv13-1 |
C |
T |
6: 41,093,322 (GRCm39) |
T86I |
probably benign |
Het |
| Trim24 |
A |
G |
6: 37,941,708 (GRCm39) |
D886G |
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,259,321 (GRCm39) |
I1003M |
probably damaging |
Het |
| Trim37 |
T |
C |
11: 87,096,828 (GRCm39) |
V777A |
probably benign |
Het |
| Ttc7 |
A |
C |
17: 87,678,166 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,596,364 (GRCm39) |
D11856G |
possibly damaging |
Het |
| Vmn1r226 |
A |
T |
17: 20,908,260 (GRCm39) |
D164V |
possibly damaging |
Het |
| Vmn1r34 |
G |
A |
6: 66,614,552 (GRCm39) |
T62I |
possibly damaging |
Het |
| Wapl |
T |
C |
14: 34,414,104 (GRCm39) |
L322P |
probably damaging |
Het |
| Zfp62 |
A |
G |
11: 49,105,960 (GRCm39) |
D17G |
probably damaging |
Het |
|
| Other mutations in Krt14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01759:Krt14
|
APN |
11 |
100,095,242 (GRCm39) |
splice site |
probably benign |
|
|
R0449:Krt14
|
UTSW |
11 |
100,098,221 (GRCm39) |
missense |
unknown |
|
|
R0848:Krt14
|
UTSW |
11 |
100,095,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1302:Krt14
|
UTSW |
11 |
100,094,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2024:Krt14
|
UTSW |
11 |
100,098,044 (GRCm39) |
missense |
unknown |
|
|
R2088:Krt14
|
UTSW |
11 |
100,094,949 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2161:Krt14
|
UTSW |
11 |
100,097,939 (GRCm39) |
missense |
unknown |
|
|
R5015:Krt14
|
UTSW |
11 |
100,098,032 (GRCm39) |
nonsense |
probably null |
|
|
R5314:Krt14
|
UTSW |
11 |
100,095,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5474:Krt14
|
UTSW |
11 |
100,095,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5698:Krt14
|
UTSW |
11 |
100,096,451 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5707:Krt14
|
UTSW |
11 |
100,095,584 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6072:Krt14
|
UTSW |
11 |
100,097,992 (GRCm39) |
missense |
unknown |
|
|
R6523:Krt14
|
UTSW |
11 |
100,095,923 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6622:Krt14
|
UTSW |
11 |
100,094,786 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7082:Krt14
|
UTSW |
11 |
100,094,167 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7239:Krt14
|
UTSW |
11 |
100,095,081 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7350:Krt14
|
UTSW |
11 |
100,095,926 (GRCm39) |
nonsense |
probably null |
|
|
R8055:Krt14
|
UTSW |
11 |
100,095,584 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8233:Krt14
|
UTSW |
11 |
100,094,178 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9043:Krt14
|
UTSW |
11 |
100,095,464 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9116:Krt14
|
UTSW |
11 |
100,095,904 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9725:Krt14
|
UTSW |
11 |
100,097,902 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9784:Krt14
|
UTSW |
11 |
100,097,966 (GRCm39) |
missense |
unknown |
|
|
X0020:Krt14
|
UTSW |
11 |
100,095,932 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTGAAGCCTTGGAGGACAC -3'
(R):5'- TATGGTGGGAGCTTCAGCAG -3'
Sequencing Primer
(F):5'- CACTGGAATGGCAAGTCCTG -3'
(R):5'- CTTCAGCAGCAGCAGTTTTG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation