Incidental Mutation 'R5474:Krt14'
| ID |
433983 |
| 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 |
| MMRRC Submission |
043035-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5474 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
100093988-100098336 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100095571 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 278
(M278K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007272
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007272]
|
| AlphaFold |
Q61781 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007272
AA Change: M278K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000007272
Gene: ENSMUSG00000045545
AA Change: M278K
| 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: 98.2%
- 3x: 97.2%
- 10x: 95.0%
- 20x: 90.1%
|
| 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 |
|---|
| Abcb5 |
C |
T |
12: 118,904,425 (GRCm39) |
G122S |
probably null |
Het |
| Ankmy1 |
T |
C |
1: 92,812,926 (GRCm39) |
D461G |
possibly damaging |
Het |
| Ascc3 |
T |
C |
10: 50,725,634 (GRCm39) |
I2119T |
probably benign |
Het |
| Bud13 |
G |
C |
9: 46,199,251 (GRCm39) |
R204T |
probably damaging |
Het |
| Clec4a4 |
T |
C |
6: 122,989,706 (GRCm39) |
S116P |
probably damaging |
Het |
| Cnga1 |
T |
C |
5: 72,762,536 (GRCm39) |
Y326C |
probably damaging |
Het |
| Cngb1 |
A |
T |
8: 95,978,597 (GRCm39) |
I588N |
probably damaging |
Het |
| Cspg5 |
A |
T |
9: 110,080,076 (GRCm39) |
I334F |
probably damaging |
Het |
| Cyp2c29 |
G |
A |
19: 39,313,436 (GRCm39) |
A350T |
probably damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
| Dgkq |
A |
G |
5: 108,797,009 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dock4 |
T |
C |
12: 40,795,730 (GRCm39) |
I849T |
probably benign |
Het |
| Drd4 |
T |
C |
7: 140,873,641 (GRCm39) |
W98R |
probably damaging |
Het |
| Duox1 |
A |
T |
2: 122,177,106 (GRCm39) |
Q1511L |
probably benign |
Het |
| Gtdc1 |
A |
T |
2: 44,646,379 (GRCm39) |
L83Q |
probably damaging |
Het |
| H2-T3 |
G |
A |
17: 36,500,999 (GRCm39) |
P6S |
probably damaging |
Het |
| H6pd |
A |
G |
4: 150,080,546 (GRCm39) |
C92R |
probably damaging |
Het |
| Ide |
A |
G |
19: 37,249,583 (GRCm39) |
V923A |
unknown |
Het |
| Kcnc4 |
A |
T |
3: 107,355,207 (GRCm39) |
S414T |
possibly damaging |
Het |
| Lrit1 |
T |
A |
14: 36,783,943 (GRCm39) |
S424T |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,581,635 (GRCm39) |
S2500N |
unknown |
Het |
| Ncs1 |
A |
T |
2: 31,170,796 (GRCm39) |
N70Y |
probably damaging |
Het |
| Nemf |
C |
A |
12: 69,363,109 (GRCm39) |
R923L |
probably benign |
Het |
| Nrros |
T |
C |
16: 31,963,170 (GRCm39) |
I246M |
probably benign |
Het |
| Or5w13 |
G |
A |
2: 87,523,401 (GRCm39) |
S275F |
probably damaging |
Het |
| Or6a2 |
T |
A |
7: 106,600,296 (GRCm39) |
Y257F |
probably damaging |
Het |
| Or8g51 |
T |
A |
9: 38,609,609 (GRCm39) |
T18S |
possibly damaging |
Het |
| Polb |
A |
G |
8: 23,120,386 (GRCm39) |
Y296H |
probably benign |
Het |
| Prrc2a |
A |
T |
17: 35,378,189 (GRCm39) |
F440L |
unknown |
Het |
| Prrc2c |
T |
C |
1: 162,537,213 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
C |
T |
10: 28,372,926 (GRCm39) |
R726* |
probably null |
Het |
| Rnpc3 |
A |
T |
3: 113,409,158 (GRCm39) |
L247* |
probably null |
Het |
| Scfd2 |
C |
T |
5: 74,692,025 (GRCm39) |
V86I |
probably benign |
Het |
| Sec14l5 |
A |
G |
16: 4,996,382 (GRCm39) |
T443A |
possibly damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,195,221 (GRCm39) |
V138A |
probably damaging |
Het |
| Usp15 |
T |
C |
10: 122,963,950 (GRCm39) |
D524G |
probably damaging |
Het |
| Vav3 |
A |
G |
3: 109,571,737 (GRCm39) |
T220A |
probably benign |
Het |
| Vmn2r17 |
G |
A |
5: 109,582,150 (GRCm39) |
S513N |
probably damaging |
Het |
| Zfp84 |
C |
T |
7: 29,476,514 (GRCm39) |
S402L |
probably damaging |
Het |
| Zfta |
A |
T |
19: 7,397,524 (GRCm39) |
R24W |
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 |
|
|
R3878:Krt14
|
UTSW |
11 |
100,097,915 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5015:Krt14
|
UTSW |
11 |
100,098,032 (GRCm39) |
nonsense |
probably null |
|
|
R5314:Krt14
|
UTSW |
11 |
100,095,526 (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'- CACTAGAAAGCCCTGGAAGG -3'
(R):5'- CTGGCCTACCTGAAGAAGAACC -3'
Sequencing Primer
(F):5'- CCTGGAAGGCAGGTACTCTG -3'
(R):5'- CCAGCTTAAGAGGGTGGATG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation