Incidental Mutation 'R5281:Krt17'
| ID |
402794 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt17
|
| Ensembl Gene |
ENSMUSG00000035557 |
| Gene Name |
keratin 17 |
| Synonyms |
Krt1-17, K17 |
| MMRRC Submission |
042866-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5281 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
100147043-100151855 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 100151527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 89
(Q89*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017270]
[ENSMUST00000080893]
|
| AlphaFold |
Q9QWL7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017270
|
| SMART Domains |
Protein: ENSMUSP00000017270
Gene: ENSMUSG00000053654
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
62 |
84 |
N/A |
INTRINSIC |
|
Filament
|
93 |
404 |
5.58e-184 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000080893
AA Change: Q89*
|
| SMART Domains |
Protein: ENSMUSP00000079699
Gene: ENSMUSG00000035557
AA Change: Q89*
| Domain | Start | End | E-Value | Type |
|---|
|
Filament
|
83 |
394 |
9.36e-177 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000107406
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
A |
G |
7: 82,178,142 (GRCm39) |
H535R |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,263,115 (GRCm39) |
E45G |
probably damaging |
Het |
| Ano10 |
A |
G |
9: 122,090,552 (GRCm39) |
S254P |
probably damaging |
Het |
| Arhgap21 |
T |
A |
2: 20,854,127 (GRCm39) |
E1745V |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,145,163 (GRCm39) |
L1302P |
probably damaging |
Het |
| Btn2a2 |
A |
G |
13: 23,663,002 (GRCm39) |
V316A |
probably damaging |
Het |
| C2cd4c |
G |
A |
10: 79,448,878 (GRCm39) |
P90S |
probably benign |
Het |
| Cant1 |
A |
T |
11: 118,299,696 (GRCm39) |
W255R |
probably damaging |
Het |
| Cenpe |
A |
C |
3: 134,935,911 (GRCm39) |
K449Q |
possibly damaging |
Het |
| Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
| Dmbt1 |
T |
C |
7: 130,684,349 (GRCm39) |
V615A |
probably damaging |
Het |
| Dnajc5b |
T |
C |
3: 19,664,724 (GRCm39) |
V174A |
probably benign |
Het |
| Dst |
C |
A |
1: 34,296,863 (GRCm39) |
H5751N |
probably benign |
Het |
| Eif2d |
A |
G |
1: 131,101,080 (GRCm39) |
E562G |
probably damaging |
Het |
| Epha10 |
A |
T |
4: 124,807,781 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
C |
T |
1: 77,351,504 (GRCm39) |
G917D |
probably benign |
Het |
| Fap |
C |
T |
2: 62,363,305 (GRCm39) |
|
probably null |
Het |
| Fsd2 |
T |
C |
7: 81,202,733 (GRCm39) |
E282G |
probably benign |
Het |
| Gls |
A |
T |
1: 52,230,316 (GRCm39) |
M136K |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gusb |
T |
C |
5: 130,027,367 (GRCm39) |
T313A |
probably benign |
Het |
| Ints7 |
T |
C |
1: 191,347,883 (GRCm39) |
Y752H |
possibly damaging |
Het |
| Mfsd4b4 |
T |
C |
10: 39,768,467 (GRCm39) |
I209V |
probably benign |
Het |
| Nr0b2 |
A |
G |
4: 133,283,335 (GRCm39) |
I191V |
probably benign |
Het |
| Or51af1 |
T |
C |
7: 103,141,180 (GRCm39) |
I302V |
probably benign |
Het |
| Pcdhb21 |
T |
C |
18: 37,646,988 (GRCm39) |
M39T |
probably benign |
Het |
| Pds5b |
T |
G |
5: 150,670,073 (GRCm39) |
Y354D |
probably benign |
Het |
| She |
A |
G |
3: 89,756,888 (GRCm39) |
D314G |
probably benign |
Het |
| Shpk |
T |
C |
11: 73,105,946 (GRCm39) |
M266T |
probably benign |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slfn4 |
T |
G |
11: 83,078,025 (GRCm39) |
V271G |
probably damaging |
Het |
| Slitrk6 |
C |
T |
14: 110,987,805 (GRCm39) |
R634H |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,750,313 (GRCm39) |
F1555L |
probably benign |
Het |
| Vldlr |
A |
C |
19: 27,221,631 (GRCm39) |
E665D |
probably benign |
Het |
| Whrn |
T |
C |
4: 63,336,664 (GRCm39) |
T633A |
probably benign |
Het |
| Xylt2 |
A |
G |
11: 94,559,616 (GRCm39) |
V342A |
probably benign |
Het |
| Zfp800 |
A |
T |
6: 28,243,165 (GRCm39) |
V600E |
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 |
|
R4029:Krt17
|
UTSW |
11 |
100,148,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GTTGACTCCAGGCCTTGATG -3'
(R):5'- TCTATCAAGGGCTCCTCTGG -3'
Sequencing Primer
(F):5'- GGGTGGTTTATGCCCCTCC -3'
(R):5'- TGGAGGTTCATCTCGGACCTC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation