Incidental Mutation 'R6072:Krt14'
| ID |
482547 |
| 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 # |
R6072 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
100093988-100098336 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 100097992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 97
(G97D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007272
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007272]
|
| AlphaFold |
Q61781 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000007272
AA Change: G97D
|
| SMART Domains |
Protein: ENSMUSP00000007272
Gene: ENSMUSG00000045545
AA Change: G97D
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
A |
T |
11: 23,467,357 (GRCm39) |
M92K |
probably benign |
Het |
| Abca15 |
T |
A |
7: 119,987,481 (GRCm39) |
C1256S |
probably damaging |
Het |
| Asic2 |
A |
G |
11: 80,784,914 (GRCm39) |
S291P |
probably damaging |
Het |
| Asph |
A |
G |
4: 9,643,533 (GRCm39) |
|
probably null |
Het |
| Ccdc57 |
T |
A |
11: 120,792,901 (GRCm39) |
K284N |
probably damaging |
Het |
| Cfap210 |
A |
T |
2: 69,602,402 (GRCm39) |
D336E |
probably benign |
Het |
| Dnm3 |
CAGCCTTCGTTGGGTG |
C |
1: 161,838,637 (GRCm39) |
|
probably benign |
Het |
| Dop1a |
G |
A |
9: 86,389,750 (GRCm39) |
S558N |
probably benign |
Het |
| F830045P16Rik |
T |
A |
2: 129,314,614 (GRCm39) |
Q221L |
probably damaging |
Het |
| Gm10146 |
A |
G |
10: 78,229,332 (GRCm39) |
|
noncoding transcript |
Het |
| Gys2 |
T |
G |
6: 142,374,263 (GRCm39) |
D594A |
probably damaging |
Het |
| Irf9 |
A |
G |
14: 55,843,284 (GRCm39) |
E114G |
probably damaging |
Het |
| Itpr2 |
T |
G |
6: 146,248,609 (GRCm39) |
K1082T |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,166,772 (GRCm39) |
|
probably benign |
Het |
| Nckap5l |
A |
T |
15: 99,324,535 (GRCm39) |
L656Q |
probably damaging |
Het |
| Ndufs8 |
T |
C |
19: 3,959,275 (GRCm39) |
T129A |
probably damaging |
Het |
| Nosip |
G |
A |
7: 44,726,072 (GRCm39) |
V187M |
possibly damaging |
Het |
| Or4l1 |
A |
T |
14: 50,166,606 (GRCm39) |
Y132N |
probably damaging |
Het |
| Or7g18 |
G |
A |
9: 18,786,718 (GRCm39) |
V29I |
probably benign |
Het |
| Phf3 |
A |
C |
1: 30,869,769 (GRCm39) |
N426K |
probably benign |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Pphln1-ps1 |
T |
C |
16: 13,495,353 (GRCm39) |
S151P |
probably damaging |
Het |
| Ptpru |
A |
G |
4: 131,503,539 (GRCm39) |
S1164P |
probably damaging |
Het |
| Rcan1 |
T |
C |
16: 92,262,815 (GRCm39) |
D51G |
probably benign |
Het |
| Rem1 |
A |
G |
2: 152,476,437 (GRCm39) |
T232A |
probably benign |
Het |
| Slc1a3 |
T |
A |
15: 8,738,052 (GRCm39) |
I59F |
probably damaging |
Het |
| Slc23a4 |
T |
C |
6: 34,925,357 (GRCm39) |
K491E |
probably benign |
Het |
| Slc6a5 |
T |
A |
7: 49,561,943 (GRCm39) |
D158E |
probably damaging |
Het |
| Smarca4 |
A |
G |
9: 21,611,417 (GRCm39) |
N1510S |
probably damaging |
Het |
| Taf1d |
T |
C |
9: 15,222,856 (GRCm39) |
S241P |
probably benign |
Het |
| Thada |
T |
C |
17: 84,499,434 (GRCm39) |
D1921G |
possibly damaging |
Het |
| Tmem147 |
A |
T |
7: 30,427,445 (GRCm39) |
M99K |
possibly damaging |
Het |
| Tulp1 |
T |
C |
17: 28,582,758 (GRCm39) |
E130G |
possibly damaging |
Het |
| Tyw1 |
T |
C |
5: 130,296,752 (GRCm39) |
V123A |
possibly damaging |
Het |
| Wdr75 |
T |
C |
1: 45,838,211 (GRCm39) |
V40A |
probably damaging |
Het |
| Zfp683 |
T |
C |
4: 133,783,057 (GRCm39) |
Y174H |
probably benign |
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 |
|
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 |
|
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'- CGAATCTTCACCTCCAGTTCAG -3'
(R):5'- CATGAAGGGCTCTTGTGGTATC -3'
Sequencing Primer
(F):5'- ACCTCCAGTTCAGTGTTGGC -3'
(R):5'- TCCTGGCTGGAGGATCCTG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation