Incidental Mutation 'R4324:Krt82'
| ID |
323979 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt82
|
| Ensembl Gene |
ENSMUSG00000049548 |
| Gene Name |
keratin 82 |
| Synonyms |
Krt2-20 |
| MMRRC Submission |
041095-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R4324 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
101449651-101459094 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101450182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 505
(M505L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023713]
|
| AlphaFold |
Q99M74 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023713
AA Change: M505L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000023713
Gene: ENSMUSG00000049548
AA Change: M505L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
57 |
N/A |
INTRINSIC |
|
Pfam:Keratin_2_head
|
61 |
114 |
6.1e-13 |
PFAM |
|
Filament
|
117 |
428 |
1.32e-153 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this keratin appears to be a hair cuticle-specific keratin. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afp |
A |
G |
5: 90,655,764 (GRCm39) |
D583G |
probably benign |
Het |
| Alg9 |
T |
G |
9: 50,716,643 (GRCm39) |
H22Q |
probably damaging |
Het |
| Aqp6 |
G |
A |
15: 99,499,291 (GRCm39) |
M1I |
probably null |
Het |
| Arhgef10 |
T |
A |
8: 14,990,335 (GRCm39) |
I270N |
possibly damaging |
Het |
| Asb13 |
G |
T |
13: 3,695,012 (GRCm39) |
R160L |
possibly damaging |
Het |
| Atg10 |
T |
A |
13: 91,189,085 (GRCm39) |
D75V |
probably damaging |
Het |
| Atxn7l2 |
A |
T |
3: 108,113,148 (GRCm39) |
D218E |
probably damaging |
Het |
| Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
| Cdan1 |
T |
C |
2: 120,555,460 (GRCm39) |
I760M |
probably damaging |
Het |
| Cdk14 |
T |
A |
5: 5,086,532 (GRCm39) |
K263* |
probably null |
Het |
| Cdk5rap2 |
A |
T |
4: 70,271,851 (GRCm39) |
I287N |
probably damaging |
Het |
| Cdkn2aip |
A |
T |
8: 48,165,208 (GRCm39) |
S168R |
probably benign |
Het |
| Dnah17 |
C |
T |
11: 117,985,039 (GRCm39) |
V1555M |
probably benign |
Het |
| Dsel |
T |
C |
1: 111,789,123 (GRCm39) |
T471A |
probably damaging |
Het |
| Dzank1 |
T |
C |
2: 144,330,618 (GRCm39) |
E478G |
possibly damaging |
Het |
| Enc1 |
T |
C |
13: 97,382,405 (GRCm39) |
F305S |
probably benign |
Het |
| Epn1 |
T |
A |
7: 5,100,210 (GRCm39) |
M441K |
probably benign |
Het |
| Fbxw24 |
C |
T |
9: 109,434,013 (GRCm39) |
|
probably null |
Het |
| Gad1 |
G |
A |
2: 70,420,174 (GRCm39) |
D353N |
probably damaging |
Het |
| Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
| H2-K2 |
C |
T |
17: 34,219,014 (GRCm39) |
V30M |
possibly damaging |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Man2a1 |
A |
G |
17: 64,973,788 (GRCm39) |
I355V |
probably benign |
Het |
| Or5p53 |
C |
T |
7: 107,532,900 (GRCm39) |
P58S |
probably damaging |
Het |
| Pcbp3 |
G |
A |
10: 76,599,177 (GRCm39) |
R109* |
probably null |
Het |
| Pcgf1 |
T |
C |
6: 83,056,938 (GRCm39) |
|
probably null |
Het |
| Plekhm2 |
A |
T |
4: 141,359,168 (GRCm39) |
V533E |
possibly damaging |
Het |
| Prss3 |
T |
G |
6: 41,350,779 (GRCm39) |
D237A |
probably benign |
Het |
| Rnf125 |
G |
A |
18: 21,110,817 (GRCm39) |
R25K |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Shc4 |
T |
A |
2: 125,520,670 (GRCm39) |
M260L |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,605,099 (GRCm39) |
Y151C |
probably benign |
Het |
| Stac3 |
C |
T |
10: 127,339,118 (GRCm39) |
P76S |
probably damaging |
Het |
| Trpc7 |
T |
C |
13: 57,035,169 (GRCm39) |
I255V |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,738,923 (GRCm39) |
E3872G |
probably benign |
Het |
| Uqcrfs1 |
A |
G |
13: 30,725,141 (GRCm39) |
V133A |
probably benign |
Het |
| Vmn2r52 |
T |
A |
7: 9,904,940 (GRCm39) |
T300S |
possibly damaging |
Het |
| Wipi1 |
A |
T |
11: 109,494,662 (GRCm39) |
I57N |
possibly damaging |
Het |
|
| Other mutations in Krt82 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00835:Krt82
|
APN |
15 |
101,451,813 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01112:Krt82
|
APN |
15 |
101,453,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01820:Krt82
|
APN |
15 |
101,451,887 (GRCm39) |
splice site |
probably benign |
|
|
IGL02529:Krt82
|
APN |
15 |
101,458,831 (GRCm39) |
nonsense |
probably null |
|
|
IGL02894:Krt82
|
APN |
15 |
101,451,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02974:Krt82
|
APN |
15 |
101,459,020 (GRCm39) |
nonsense |
probably null |
|
|
IGL03263:Krt82
|
APN |
15 |
101,450,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0268:Krt82
|
UTSW |
15 |
101,450,148 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0385:Krt82
|
UTSW |
15 |
101,454,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0542:Krt82
|
UTSW |
15 |
101,454,035 (GRCm39) |
splice site |
probably benign |
|
|
R1073:Krt82
|
UTSW |
15 |
101,458,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1601:Krt82
|
UTSW |
15 |
101,453,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1795:Krt82
|
UTSW |
15 |
101,451,819 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1944:Krt82
|
UTSW |
15 |
101,456,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1974:Krt82
|
UTSW |
15 |
101,453,597 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2049:Krt82
|
UTSW |
15 |
101,453,591 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2140:Krt82
|
UTSW |
15 |
101,453,591 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2851:Krt82
|
UTSW |
15 |
101,456,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2852:Krt82
|
UTSW |
15 |
101,456,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2853:Krt82
|
UTSW |
15 |
101,456,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3815:Krt82
|
UTSW |
15 |
101,459,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4798:Krt82
|
UTSW |
15 |
101,458,923 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4980:Krt82
|
UTSW |
15 |
101,453,534 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5212:Krt82
|
UTSW |
15 |
101,453,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5260:Krt82
|
UTSW |
15 |
101,456,823 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5821:Krt82
|
UTSW |
15 |
101,456,820 (GRCm39) |
nonsense |
probably null |
|
|
R6009:Krt82
|
UTSW |
15 |
101,453,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6955:Krt82
|
UTSW |
15 |
101,451,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7194:Krt82
|
UTSW |
15 |
101,451,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7307:Krt82
|
UTSW |
15 |
101,451,342 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7420:Krt82
|
UTSW |
15 |
101,454,022 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7837:Krt82
|
UTSW |
15 |
101,456,792 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8354:Krt82
|
UTSW |
15 |
101,450,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8371:Krt82
|
UTSW |
15 |
101,453,546 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8454:Krt82
|
UTSW |
15 |
101,450,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8692:Krt82
|
UTSW |
15 |
101,456,828 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9111:Krt82
|
UTSW |
15 |
101,451,786 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9187:Krt82
|
UTSW |
15 |
101,450,260 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9346:Krt82
|
UTSW |
15 |
101,458,959 (GRCm39) |
missense |
probably benign |
|
|
R9527:Krt82
|
UTSW |
15 |
101,454,558 (GRCm39) |
missense |
probably benign |
0.39 |
|
Z1176:Krt82
|
UTSW |
15 |
101,450,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAGATATGCGAAGGGTGGC -3'
(R):5'- CTCCAAAGGTGCCGTACTCTAC -3'
Sequencing Primer
(F):5'- TGGCTTTGAAGAAATGAGCG -3'
(R):5'- ACTCTACGAGCCCTGTGTGATG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation