Incidental Mutation 'R1073:Krt82'
| ID |
85548 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt82
|
| Ensembl Gene |
ENSMUSG00000049548 |
| Gene Name |
keratin 82 |
| Synonyms |
Krt2-20 |
| MMRRC Submission |
039159-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R1073 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
101449651-101459094 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101458689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 117
(D117V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023713]
[ENSMUST00000023714]
|
| AlphaFold |
Q99M74 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023713
AA Change: D117V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023713
Gene: ENSMUSG00000049548
AA Change: D117V
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023714
|
| SMART Domains |
Protein: ENSMUSP00000023714
Gene: ENSMUSG00000048699
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Keratin_2_head
|
16 |
139 |
3.1e-24 |
PFAM |
|
Filament
|
142 |
453 |
1.05e-179 |
SMART |
|
low complexity region
|
465 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
535 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0831 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.5%
- 20x: 94.5%
|
| Validation Efficiency |
98% (40/41) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap3 |
T |
C |
4: 135,963,742 (GRCm39) |
I334T |
probably damaging |
Het |
| Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
| Cacna2d3 |
T |
A |
14: 28,767,580 (GRCm39) |
H765L |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 96,030,195 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
C |
T |
8: 16,408,477 (GRCm39) |
|
probably benign |
Het |
| Cux1 |
A |
T |
5: 136,281,395 (GRCm39) |
|
probably null |
Het |
| D7Ertd443e |
T |
C |
7: 133,871,947 (GRCm39) |
K232R |
probably damaging |
Het |
| Dock6 |
A |
G |
9: 21,757,814 (GRCm39) |
S97P |
probably benign |
Het |
| Eml5 |
G |
A |
12: 98,797,232 (GRCm39) |
A1099V |
probably damaging |
Het |
| Gtf2h1 |
G |
A |
7: 46,466,368 (GRCm39) |
A472T |
probably damaging |
Het |
| Lrfn5 |
A |
G |
12: 61,887,595 (GRCm39) |
Y461C |
probably damaging |
Het |
| Mmrn2 |
G |
A |
14: 34,118,251 (GRCm39) |
|
probably null |
Het |
| Mrtfb |
T |
A |
16: 13,230,182 (GRCm39) |
S956T |
possibly damaging |
Het |
| Msrb3 |
T |
A |
10: 120,620,041 (GRCm39) |
S93C |
possibly damaging |
Het |
| Ncl |
AAAGCCTCCC |
AAAGCCTCCCAAGCCTCCC |
1: 86,278,538 (GRCm39) |
|
probably benign |
Het |
| Or8k41 |
A |
G |
2: 86,313,984 (GRCm39) |
I34T |
probably damaging |
Het |
| Osbpl10 |
C |
T |
9: 115,036,621 (GRCm39) |
Q381* |
probably null |
Het |
| Pelp1 |
A |
G |
11: 70,287,416 (GRCm39) |
L464P |
probably damaging |
Het |
| Pigs |
A |
G |
11: 78,226,431 (GRCm39) |
D216G |
probably benign |
Het |
| Ptprk |
T |
C |
10: 28,372,943 (GRCm39) |
|
probably null |
Het |
| Pyroxd1 |
T |
C |
6: 142,294,370 (GRCm39) |
|
probably null |
Het |
| Ros1 |
T |
A |
10: 51,922,221 (GRCm39) |
D2284V |
probably damaging |
Het |
| Rptor |
T |
C |
11: 119,634,717 (GRCm39) |
S178P |
possibly damaging |
Het |
| Slc8a1 |
C |
T |
17: 81,955,836 (GRCm39) |
D401N |
probably damaging |
Het |
| Tas2r143 |
T |
C |
6: 42,377,694 (GRCm39) |
Y175H |
probably benign |
Het |
| Tdrd9 |
T |
C |
12: 111,989,693 (GRCm39) |
S502P |
probably damaging |
Het |
| Tmem38a |
A |
G |
8: 73,333,947 (GRCm39) |
H142R |
probably damaging |
Het |
| Tmem44 |
A |
G |
16: 30,333,651 (GRCm39) |
|
probably benign |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Umod |
A |
G |
7: 119,063,964 (GRCm39) |
V614A |
possibly damaging |
Het |
| Vmn2r5 |
A |
T |
3: 64,398,726 (GRCm39) |
L751* |
probably null |
Het |
| Wdr37 |
A |
T |
13: 8,855,876 (GRCm39) |
I489N |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,246,831 (GRCm39) |
T78A |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,220,272 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
R4324:Krt82
|
UTSW |
15 |
101,450,182 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TAAGAGGCCGATGGACAAATGCCC -3'
(R):5'- GTCACCCACTATGAAGTGAGCAAGG -3'
Sequencing Primer
(F):5'- ATGGACAAATGCCCCTTCCTG -3'
(R):5'- TCTCGGAGCCTGTGCAAC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation