Incidental Mutation 'R2930:Krt75'
| ID |
264524 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt75
|
| Ensembl Gene |
ENSMUSG00000022986 |
| Gene Name |
keratin 75 |
| Synonyms |
Krt2-6hf, Krtcap1, 4732468K03Rik, K6hf |
| MMRRC Submission |
040512-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R2930 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
101471780-101482339 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 101476466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 433
(R433Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036246
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042957]
|
| AlphaFold |
Q8BGZ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042957
AA Change: R433Q
PolyPhen 2
Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000036246
Gene: ENSMUSG00000022986
AA Change: R433Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Keratin_2_head
|
16 |
146 |
1e-32 |
PFAM |
|
Filament
|
149 |
462 |
1.68e-178 |
SMART |
|
low complexity region
|
468 |
527 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196179
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. This gene is expressed in the companion layer, upper germinative matrix region of the hair follicle, and medulla of the hair shaft. The encoded protein plays an essential role in hair and nail formation. Variations in this gene have been associated with the hair disorders pseudofolliculitis barbae (PFB) and loose anagen hair syndrome (LAHS). [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-in mutation that results in the deletion of the highly conserved asparagine residue (N159) in the helix initiation peptide of this gene develop hair shaft and nail abnormalities resembling pachyonychia congenita. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
T |
2: 69,087,702 (GRCm39) |
V1021D |
probably damaging |
Het |
| Abcc3 |
T |
C |
11: 94,252,636 (GRCm39) |
N749S |
probably damaging |
Het |
| Adap1 |
T |
C |
5: 139,293,621 (GRCm39) |
D30G |
probably benign |
Het |
| Camk2d |
C |
A |
3: 126,601,880 (GRCm39) |
H356Q |
possibly damaging |
Het |
| Cdc23 |
ACC |
AC |
18: 34,770,371 (GRCm39) |
|
probably null |
Het |
| Cfap74 |
G |
A |
4: 155,522,627 (GRCm39) |
S671N |
probably damaging |
Het |
| Cul7 |
C |
G |
17: 46,962,526 (GRCm39) |
D52E |
probably benign |
Het |
| Dsn1 |
T |
C |
2: 156,847,381 (GRCm39) |
D19G |
probably damaging |
Het |
| Fndc3b |
T |
C |
3: 27,524,435 (GRCm39) |
T442A |
probably benign |
Het |
| Hsd3b5 |
C |
T |
3: 98,526,528 (GRCm39) |
R306H |
probably benign |
Het |
| Ilf3 |
A |
G |
9: 21,310,886 (GRCm39) |
K617E |
possibly damaging |
Het |
| Myrfl |
C |
T |
10: 116,653,652 (GRCm39) |
V472I |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,142,715 (GRCm39) |
L1580P |
probably damaging |
Het |
| Thop1 |
T |
C |
10: 80,909,148 (GRCm39) |
S60P |
probably damaging |
Het |
| Tshz3 |
G |
A |
7: 36,471,017 (GRCm39) |
R1002Q |
possibly damaging |
Het |
| Zbtb4 |
G |
T |
11: 69,667,342 (GRCm39) |
G216* |
probably null |
Het |
| Zfp729b |
A |
G |
13: 67,739,973 (GRCm39) |
L764S |
probably benign |
Het |
| Zmym4 |
T |
C |
4: 126,819,316 (GRCm39) |
S196G |
probably benign |
Het |
|
| Other mutations in Krt75 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Krt75
|
APN |
15 |
101,481,081 (GRCm39) |
missense |
probably benign |
|
|
IGL01406:Krt75
|
APN |
15 |
101,476,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01783:Krt75
|
APN |
15 |
101,473,364 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01911:Krt75
|
APN |
15 |
101,476,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01945:Krt75
|
APN |
15 |
101,478,599 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02178:Krt75
|
APN |
15 |
101,481,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02832:Krt75
|
APN |
15 |
101,476,508 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03173:Krt75
|
APN |
15 |
101,481,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03276:Krt75
|
APN |
15 |
101,476,811 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB007:Krt75
|
UTSW |
15 |
101,473,318 (GRCm39) |
makesense |
probably null |
|
|
BB017:Krt75
|
UTSW |
15 |
101,473,318 (GRCm39) |
makesense |
probably null |
|
|
R0482:Krt75
|
UTSW |
15 |
101,478,746 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0595:Krt75
|
UTSW |
15 |
101,476,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0626:Krt75
|
UTSW |
15 |
101,482,025 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1495:Krt75
|
UTSW |
15 |
101,482,308 (GRCm39) |
start gained |
probably benign |
|
|
R1886:Krt75
|
UTSW |
15 |
101,479,532 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1906:Krt75
|
UTSW |
15 |
101,481,801 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1907:Krt75
|
UTSW |
15 |
101,481,801 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2055:Krt75
|
UTSW |
15 |
101,481,196 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2504:Krt75
|
UTSW |
15 |
101,476,466 (GRCm39) |
missense |
probably benign |
0.27 |
|
R3788:Krt75
|
UTSW |
15 |
101,481,956 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4494:Krt75
|
UTSW |
15 |
101,480,136 (GRCm39) |
nonsense |
probably null |
|
|
R4803:Krt75
|
UTSW |
15 |
101,476,507 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4868:Krt75
|
UTSW |
15 |
101,476,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4906:Krt75
|
UTSW |
15 |
101,478,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4969:Krt75
|
UTSW |
15 |
101,482,248 (GRCm39) |
missense |
probably benign |
|
|
R5069:Krt75
|
UTSW |
15 |
101,474,673 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5446:Krt75
|
UTSW |
15 |
101,479,502 (GRCm39) |
missense |
probably null |
0.22 |
|
R6019:Krt75
|
UTSW |
15 |
101,482,158 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6739:Krt75
|
UTSW |
15 |
101,479,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6835:Krt75
|
UTSW |
15 |
101,479,472 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7167:Krt75
|
UTSW |
15 |
101,476,750 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7622:Krt75
|
UTSW |
15 |
101,478,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7930:Krt75
|
UTSW |
15 |
101,473,318 (GRCm39) |
makesense |
probably null |
|
|
R8046:Krt75
|
UTSW |
15 |
101,481,199 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8943:Krt75
|
UTSW |
15 |
101,476,767 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9360:Krt75
|
UTSW |
15 |
101,476,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9483:Krt75
|
UTSW |
15 |
101,482,238 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9609:Krt75
|
UTSW |
15 |
101,474,677 (GRCm39) |
missense |
probably benign |
0.33 |
|
X0022:Krt75
|
UTSW |
15 |
101,478,648 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1088:Krt75
|
UTSW |
15 |
101,482,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Krt75
|
UTSW |
15 |
101,479,489 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGGATGCACCTGGAATAATGTAG -3'
(R):5'- ATCACAATGCCTCCAGGGTC -3'
Sequencing Primer
(F):5'- GGAAAGAGATTTGCACCTTCTC -3'
(R):5'- CTGTCCACAGACTCATGGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation