Incidental Mutation 'R4029:Krt17'
| ID |
313133 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt17
|
| Ensembl Gene |
ENSMUSG00000035557 |
| Gene Name |
keratin 17 |
| Synonyms |
Krt1-17, K17 |
| MMRRC Submission |
040959-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4029 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
100147043-100151855 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 100148349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 364
(N364I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080893]
|
| AlphaFold |
Q9QWL7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080893
AA Change: N364I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079699
Gene: ENSMUSG00000035557
AA Change: N364I
| Domain | Start | End | E-Value | Type |
|---|
|
Filament
|
83 |
394 |
9.36e-177 |
SMART |
|
| Meta Mutation Damage Score |
0.3139 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (31/31) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the type I 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 required for the normal growth of hair follicles and may act in psoriasis as an immunopathogenic autoantigen. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele display age- and strain-dependent alopecia associated with frequent absence of vibrissae, increased hair fragility, abnormal hair cycling, altered hair follicle morphology, and apoptosis in matrix cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
A |
G |
7: 119,293,008 (GRCm39) |
K46R |
probably benign |
Het |
| Ank |
A |
G |
15: 27,544,343 (GRCm39) |
N35D |
probably damaging |
Het |
| Atp9a |
A |
T |
2: 168,531,245 (GRCm39) |
I174N |
probably damaging |
Het |
| Bfsp1 |
G |
A |
2: 143,673,749 (GRCm39) |
|
probably benign |
Het |
| Cenpq |
T |
C |
17: 41,238,140 (GRCm39) |
T125A |
probably damaging |
Het |
| Dcun1d4 |
A |
G |
5: 73,691,980 (GRCm39) |
D89G |
probably damaging |
Het |
| Dip2b |
A |
G |
15: 100,084,053 (GRCm39) |
Y892C |
probably damaging |
Het |
| Dmrt2 |
T |
G |
19: 25,655,498 (GRCm39) |
S366A |
probably damaging |
Het |
| Exoc7 |
C |
T |
11: 116,197,814 (GRCm39) |
|
probably benign |
Het |
| Gabra4 |
G |
T |
5: 71,729,532 (GRCm39) |
T390K |
probably benign |
Het |
| Gpr68 |
A |
G |
12: 100,845,475 (GRCm39) |
L23P |
probably damaging |
Het |
| Lefty1 |
T |
C |
1: 180,765,346 (GRCm39) |
S305P |
probably benign |
Het |
| Ly6g6d |
T |
A |
17: 35,290,636 (GRCm39) |
Q98L |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Nck2 |
T |
C |
1: 43,593,251 (GRCm39) |
F153L |
probably benign |
Het |
| Niban1 |
G |
A |
1: 151,571,441 (GRCm39) |
V239I |
probably benign |
Het |
| Nme4 |
T |
C |
17: 26,313,196 (GRCm39) |
|
probably null |
Het |
| Nup35 |
A |
G |
2: 80,483,318 (GRCm39) |
D172G |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Oog4 |
A |
T |
4: 143,166,770 (GRCm39) |
N11K |
probably benign |
Het |
| Phlpp1 |
T |
A |
1: 106,320,279 (GRCm39) |
S1425T |
probably damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,350,603 (GRCm39) |
S483T |
possibly damaging |
Het |
| Pld2 |
A |
G |
11: 70,445,731 (GRCm39) |
N655S |
probably damaging |
Het |
| Pramel28 |
T |
A |
4: 143,692,354 (GRCm39) |
T216S |
probably benign |
Het |
| Psmd2 |
G |
A |
16: 20,481,955 (GRCm39) |
G896D |
probably damaging |
Het |
| Rcn1 |
G |
T |
2: 105,229,395 (GRCm39) |
Y52* |
probably null |
Het |
| Reck |
T |
C |
4: 43,922,931 (GRCm39) |
I402T |
probably damaging |
Het |
| Shisal2a |
G |
T |
4: 108,240,412 (GRCm39) |
C43* |
probably null |
Het |
| Ston2 |
T |
C |
12: 91,615,037 (GRCm39) |
Q457R |
possibly damaging |
Het |
| Syt10 |
T |
C |
15: 89,698,741 (GRCm39) |
E201G |
probably benign |
Het |
| Ube4a |
G |
A |
9: 44,861,198 (GRCm39) |
|
probably benign |
Het |
| Wdr49 |
C |
A |
3: 75,230,972 (GRCm39) |
L563F |
probably benign |
Het |
|
| Other mutations in Krt17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00821:Krt17
|
APN |
11 |
100,151,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02291:Krt17
|
APN |
11 |
100,147,319 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL03392:Krt17
|
APN |
11 |
100,150,561 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0189:Krt17
|
UTSW |
11 |
100,151,445 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0238:Krt17
|
UTSW |
11 |
100,151,704 (GRCm39) |
nonsense |
probably null |
|
|
R0238:Krt17
|
UTSW |
11 |
100,151,704 (GRCm39) |
nonsense |
probably null |
|
|
R0239:Krt17
|
UTSW |
11 |
100,151,704 (GRCm39) |
nonsense |
probably null |
|
|
R0239:Krt17
|
UTSW |
11 |
100,151,704 (GRCm39) |
nonsense |
probably null |
|
|
R1448:Krt17
|
UTSW |
11 |
100,148,365 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1510:Krt17
|
UTSW |
11 |
100,148,365 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4235:Krt17
|
UTSW |
11 |
100,148,694 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4888:Krt17
|
UTSW |
11 |
100,147,305 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5281:Krt17
|
UTSW |
11 |
100,151,527 (GRCm39) |
nonsense |
probably null |
|
|
R7213:Krt17
|
UTSW |
11 |
100,149,356 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7238:Krt17
|
UTSW |
11 |
100,148,613 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7304:Krt17
|
UTSW |
11 |
100,148,163 (GRCm39) |
missense |
probably benign |
|
|
R7438:Krt17
|
UTSW |
11 |
100,149,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7796:Krt17
|
UTSW |
11 |
100,151,698 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9140:Krt17
|
UTSW |
11 |
100,148,476 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9436:Krt17
|
UTSW |
11 |
100,148,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Krt17
|
UTSW |
11 |
100,151,749 (GRCm39) |
missense |
probably benign |
0.23 |
|
Z1177:Krt17
|
UTSW |
11 |
100,150,537 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Z1177:Krt17
|
UTSW |
11 |
100,150,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTGTACTGAGTCAGGCTG -3'
(R):5'- TGTTATGCACCCAGGGATGG -3'
Sequencing Primer
(F):5'- TACTCACTGGGCATCCT -3'
(R):5'- CTAACACCTGGGAGTCAGCTTTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation