Incidental Mutation 'R5723:Krt16'
| ID |
452340 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt16
|
| Ensembl Gene |
ENSMUSG00000053797 |
| Gene Name |
keratin 16 |
| Synonyms |
Krt1-16, K16 |
| MMRRC Submission |
043341-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R5723 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
100136917-100139728 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100139272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 149
(Y149H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007280]
|
| AlphaFold |
Q9Z2K1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007280
AA Change: Y149H
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000007280
Gene: ENSMUSG00000053797
AA Change: Y149H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
29 |
N/A |
INTRINSIC |
|
Filament
|
112 |
423 |
8.41e-170 |
SMART |
|
low complexity region
|
454 |
467 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119257
|
| Meta Mutation Damage Score |
0.1189 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
98% (57/58) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The encoded protein is a cytokeratin and acts as an innate immune system effector, promoting the inflammatory response upon breach of the skin barrier. Defects in this gene are a cause of pachyonychia congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial neonatal and postnatal lethality, decreased body weight, abnormal tongue epithelium and hyperkertotic calluses in areas of physical pressure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
C |
11: 109,844,445 (GRCm39) |
D862G |
possibly damaging |
Het |
| Abcg2 |
C |
T |
6: 58,655,336 (GRCm39) |
Q109* |
probably null |
Het |
| Acbd7 |
A |
G |
2: 3,341,455 (GRCm39) |
Y33C |
probably damaging |
Het |
| Actl7a |
A |
G |
4: 56,744,310 (GRCm39) |
D279G |
probably damaging |
Het |
| Akr1c18 |
A |
T |
13: 4,194,328 (GRCm39) |
Y110* |
probably null |
Het |
| Akt1 |
T |
C |
12: 112,623,704 (GRCm39) |
K276E |
probably damaging |
Het |
| Bcas2 |
A |
G |
3: 103,084,608 (GRCm39) |
|
probably benign |
Het |
| C9 |
T |
A |
15: 6,516,297 (GRCm39) |
Y367N |
probably damaging |
Het |
| Cd163 |
A |
G |
6: 124,296,022 (GRCm39) |
T789A |
probably benign |
Het |
| Cers6 |
T |
A |
2: 68,938,789 (GRCm39) |
S344T |
probably benign |
Het |
| Clcn4 |
A |
G |
7: 7,294,681 (GRCm39) |
V329A |
probably damaging |
Het |
| Crisp3 |
A |
C |
17: 40,546,804 (GRCm39) |
V38G |
probably damaging |
Het |
| Cyp2b23 |
A |
G |
7: 26,380,821 (GRCm39) |
F135L |
probably benign |
Het |
| Cyrib |
A |
T |
15: 63,828,447 (GRCm39) |
|
probably null |
Het |
| Ddr2 |
A |
T |
1: 169,816,089 (GRCm39) |
C539* |
probably null |
Het |
| Efna5 |
T |
A |
17: 62,914,458 (GRCm39) |
D189V |
probably damaging |
Het |
| Endov |
G |
T |
11: 119,390,675 (GRCm39) |
V70F |
probably damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Frem3 |
A |
T |
8: 81,340,026 (GRCm39) |
H773L |
probably benign |
Het |
| Gm43302 |
T |
A |
5: 105,365,352 (GRCm39) |
Q552L |
possibly damaging |
Het |
| Gramd1a |
A |
T |
7: 30,833,908 (GRCm39) |
W506R |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,570,600 (GRCm39) |
V2188I |
possibly damaging |
Het |
| Ifit1bl2 |
A |
G |
19: 34,597,458 (GRCm39) |
F53L |
probably benign |
Het |
| Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
| Kif5a |
GGGTTGGT |
GGGT |
10: 127,066,898 (GRCm39) |
|
probably null |
Het |
| Krtap5-2 |
A |
T |
7: 141,728,742 (GRCm39) |
C313S |
unknown |
Het |
| Mreg |
A |
G |
1: 72,201,527 (GRCm39) |
I155T |
probably damaging |
Het |
| Nans |
T |
C |
4: 46,499,083 (GRCm39) |
F130S |
probably benign |
Het |
| Nox4 |
T |
C |
7: 86,954,181 (GRCm39) |
|
probably benign |
Het |
| Or3a1d |
C |
A |
11: 74,237,954 (GRCm39) |
W32L |
possibly damaging |
Het |
| Or52ad1 |
A |
T |
7: 102,995,826 (GRCm39) |
M103K |
possibly damaging |
Het |
| Or56a3 |
C |
A |
7: 104,740,309 (GRCm39) |
C179F |
probably damaging |
Het |
| Or5k15 |
A |
T |
16: 58,709,976 (GRCm39) |
Y202* |
probably null |
Het |
| Pgap6 |
CGGGG |
CGGGGG |
17: 26,339,536 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
A |
G |
17: 24,784,497 (GRCm39) |
T348A |
probably benign |
Het |
| Poteg |
T |
C |
8: 27,940,020 (GRCm39) |
|
probably null |
Het |
| Prom1 |
T |
G |
5: 44,172,236 (GRCm39) |
N585T |
probably benign |
Het |
| Rfc1 |
T |
C |
5: 65,434,769 (GRCm39) |
S666G |
probably null |
Het |
| Rilp |
A |
G |
11: 75,403,687 (GRCm39) |
|
probably benign |
Het |
| Serpina3i |
A |
G |
12: 104,231,759 (GRCm39) |
E132G |
probably benign |
Het |
| Serpina3m |
T |
C |
12: 104,360,170 (GRCm39) |
V414A |
probably damaging |
Het |
| Sfrp4 |
T |
C |
13: 19,807,868 (GRCm39) |
F89S |
probably damaging |
Het |
| Stat5a |
A |
G |
11: 100,772,900 (GRCm39) |
H692R |
probably benign |
Het |
| Tex29 |
A |
T |
8: 11,904,279 (GRCm39) |
|
probably benign |
Het |
| Tmc5 |
T |
A |
7: 118,271,416 (GRCm39) |
F910I |
probably damaging |
Het |
| Tusc3 |
G |
A |
8: 39,538,651 (GRCm39) |
G230D |
possibly damaging |
Het |
| Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
| Upb1 |
A |
T |
10: 75,264,105 (GRCm39) |
I184F |
probably damaging |
Het |
| Vamp4 |
T |
C |
1: 162,401,932 (GRCm39) |
F5L |
possibly damaging |
Het |
| Zfp583 |
C |
A |
7: 6,326,674 (GRCm39) |
Q68H |
probably damaging |
Het |
| Zfp831 |
A |
C |
2: 174,487,200 (GRCm39) |
H625P |
probably benign |
Het |
| Zfp941 |
G |
A |
7: 140,392,763 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Krt16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00938:Krt16
|
APN |
11 |
100,139,543 (GRCm39) |
nonsense |
probably null |
|
|
IGL01794:Krt16
|
APN |
11 |
100,138,731 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01795:Krt16
|
APN |
11 |
100,138,550 (GRCm39) |
splice site |
probably benign |
|
|
IGL02221:Krt16
|
APN |
11 |
100,137,162 (GRCm39) |
splice site |
probably benign |
|
|
IGL02243:Krt16
|
APN |
11 |
100,137,162 (GRCm39) |
splice site |
probably benign |
|
|
IGL02410:Krt16
|
APN |
11 |
100,137,162 (GRCm39) |
splice site |
probably benign |
|
|
IGL02451:Krt16
|
APN |
11 |
100,137,162 (GRCm39) |
splice site |
probably benign |
|
|
IGL02457:Krt16
|
APN |
11 |
100,137,162 (GRCm39) |
splice site |
probably benign |
|
|
IGL02512:Krt16
|
APN |
11 |
100,137,162 (GRCm39) |
splice site |
probably benign |
|
|
IGL02745:Krt16
|
APN |
11 |
100,137,162 (GRCm39) |
splice site |
probably benign |
|
|
IGL02867:Krt16
|
APN |
11 |
100,138,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4131001:Krt16
|
UTSW |
11 |
100,139,575 (GRCm39) |
missense |
unknown |
|
|
PIT4472001:Krt16
|
UTSW |
11 |
100,138,732 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0268:Krt16
|
UTSW |
11 |
100,137,351 (GRCm39) |
splice site |
probably benign |
|
|
R0709:Krt16
|
UTSW |
11 |
100,137,280 (GRCm39) |
splice site |
probably benign |
|
|
R1560:Krt16
|
UTSW |
11 |
100,137,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Krt16
|
UTSW |
11 |
100,138,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1996:Krt16
|
UTSW |
11 |
100,139,614 (GRCm39) |
missense |
unknown |
|
|
R2927:Krt16
|
UTSW |
11 |
100,139,625 (GRCm39) |
missense |
unknown |
|
|
R3806:Krt16
|
UTSW |
11 |
100,139,566 (GRCm39) |
missense |
unknown |
|
|
R3907:Krt16
|
UTSW |
11 |
100,137,989 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5133:Krt16
|
UTSW |
11 |
100,138,457 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5412:Krt16
|
UTSW |
11 |
100,137,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6270:Krt16
|
UTSW |
11 |
100,138,029 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6368:Krt16
|
UTSW |
11 |
100,137,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7191:Krt16
|
UTSW |
11 |
100,137,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7314:Krt16
|
UTSW |
11 |
100,138,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7446:Krt16
|
UTSW |
11 |
100,137,610 (GRCm39) |
frame shift |
probably null |
|
|
R7825:Krt16
|
UTSW |
11 |
100,139,460 (GRCm39) |
missense |
unknown |
|
|
R7852:Krt16
|
UTSW |
11 |
100,137,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8053:Krt16
|
UTSW |
11 |
100,137,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8251:Krt16
|
UTSW |
11 |
100,139,196 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8526:Krt16
|
UTSW |
11 |
100,137,309 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8547:Krt16
|
UTSW |
11 |
100,137,083 (GRCm39) |
nonsense |
probably null |
|
|
R8834:Krt16
|
UTSW |
11 |
100,139,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9607:Krt16
|
UTSW |
11 |
100,138,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTGCTCTGGATAAGTATGACC -3'
(R):5'- CAGCAGTTTTGGTGGAGGAC -3'
Sequencing Primer
(F):5'- GCTCTGGATAAGTATGACCATTAACC -3'
(R):5'- CAGTTTTGGTGGAGGACTTGGTAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation