Incidental Mutation 'R9750:Krt79'
| ID |
732485 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt79
|
| Ensembl Gene |
ENSMUSG00000061397 |
| Gene Name |
keratin 79 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9750 (G1)
|
| Quality Score |
212.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
101837767-101848759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 101839196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 424
(E424D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023799
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023799]
|
| AlphaFold |
Q8VED5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023799
AA Change: E424D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023799
Gene: ENSMUSG00000061397
AA Change: E424D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Keratin_2_head
|
15 |
98 |
6.6e-11 |
PFAM |
|
Pfam:Keratin_2_head
|
73 |
135 |
1.2e-21 |
PFAM |
|
Filament
|
138 |
452 |
7.12e-159 |
SMART |
|
low complexity region
|
474 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
519 |
530 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.2%
- 20x: 97.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes an epithelial keratin that is expressed in skeletal muscle, skin and scalp. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
G |
T |
11: 50,494,333 (GRCm39) |
V136L |
probably benign |
Het |
| Adamtsl3 |
G |
T |
7: 82,244,589 (GRCm39) |
L1348F |
probably benign |
Het |
| Amotl1 |
T |
A |
9: 14,504,102 (GRCm39) |
T369S |
probably benign |
Het |
| Anapc2 |
T |
G |
2: 25,174,982 (GRCm39) |
V700G |
possibly damaging |
Het |
| Aox3 |
C |
T |
1: 58,215,648 (GRCm39) |
Q1027* |
probably null |
Het |
| Ap5m1 |
A |
G |
14: 49,317,756 (GRCm39) |
T338A |
probably benign |
Het |
| Carf |
T |
A |
1: 60,171,158 (GRCm39) |
Y240* |
probably null |
Het |
| Ccl21a |
G |
A |
4: 42,773,875 (GRCm39) |
A15V |
probably benign |
Het |
| Dcst1 |
A |
T |
3: 89,261,462 (GRCm39) |
I429N |
probably damaging |
Het |
| Esco1 |
A |
G |
18: 10,594,510 (GRCm39) |
S259P |
probably benign |
Het |
| Esp15 |
A |
G |
17: 39,955,603 (GRCm39) |
M57V |
probably benign |
Het |
| Fat3 |
A |
G |
9: 15,915,157 (GRCm39) |
I1597T |
probably benign |
Het |
| Fbxo38 |
T |
C |
18: 62,674,061 (GRCm39) |
S7G |
probably benign |
Het |
| Gm11562 |
G |
A |
11: 99,510,856 (GRCm39) |
P115S |
unknown |
Het |
| Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
| Kansl1l |
G |
C |
1: 66,817,150 (GRCm39) |
I403M |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,747,499 (GRCm39) |
H1505R |
unknown |
Het |
| Lpgat1 |
T |
A |
1: 191,510,587 (GRCm39) |
F391I |
probably benign |
Het |
| Ltbr |
G |
A |
6: 125,284,348 (GRCm39) |
R365W |
probably damaging |
Het |
| Mon1a |
T |
A |
9: 107,778,778 (GRCm39) |
V334E |
probably damaging |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Nup210l |
A |
T |
3: 90,117,659 (GRCm39) |
|
probably null |
Het |
| Obscn |
G |
A |
11: 59,024,682 (GRCm39) |
R453W |
probably benign |
Het |
| Or1d2 |
A |
G |
11: 74,255,858 (GRCm39) |
D121G |
possibly damaging |
Het |
| Pdzd8 |
A |
G |
19: 59,289,684 (GRCm39) |
V572A |
probably benign |
Het |
| Pgr |
T |
C |
9: 8,901,918 (GRCm39) |
S484P |
possibly damaging |
Het |
| Pygl |
G |
T |
12: 70,245,303 (GRCm39) |
S473R |
possibly damaging |
Het |
| Samd1 |
T |
C |
8: 84,725,989 (GRCm39) |
V410A |
probably damaging |
Het |
| Serpina3j |
T |
G |
12: 104,280,942 (GRCm39) |
H38Q |
probably benign |
Het |
| Shprh |
A |
G |
10: 11,040,204 (GRCm39) |
Y559C |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,727,866 (GRCm39) |
D426V |
unknown |
Het |
| Slc25a21 |
T |
C |
12: 56,785,382 (GRCm39) |
K158R |
probably benign |
Het |
| Smc1b |
A |
T |
15: 85,016,106 (GRCm39) |
N11K |
probably damaging |
Het |
| St18 |
T |
C |
1: 6,873,216 (GRCm39) |
V317A |
probably benign |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Tcap |
A |
G |
11: 98,275,228 (GRCm39) |
T121A |
probably benign |
Het |
| Tgs1 |
C |
A |
4: 3,585,869 (GRCm39) |
Q249K |
probably damaging |
Het |
| Tiam1 |
A |
T |
16: 89,695,394 (GRCm39) |
L21Q |
probably damaging |
Het |
| Tmem131l |
G |
A |
3: 83,831,358 (GRCm39) |
A858V |
probably damaging |
Het |
| Trpm3 |
G |
A |
19: 22,903,495 (GRCm39) |
R927H |
probably benign |
Het |
| Wdfy3 |
T |
A |
5: 102,077,960 (GRCm39) |
H870L |
probably benign |
Het |
| Zfp518a |
T |
A |
19: 40,903,889 (GRCm39) |
C1273S |
possibly damaging |
Het |
| Zfp960 |
A |
T |
17: 17,307,898 (GRCm39) |
H204L |
probably damaging |
Het |
|
| Other mutations in Krt79 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00516:Krt79
|
APN |
15 |
101,848,601 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00546:Krt79
|
APN |
15 |
101,838,308 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01595:Krt79
|
APN |
15 |
101,840,206 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02193:Krt79
|
APN |
15 |
101,848,340 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0639:Krt79
|
UTSW |
15 |
101,839,983 (GRCm39) |
nonsense |
probably null |
|
|
R0980:Krt79
|
UTSW |
15 |
101,846,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1839:Krt79
|
UTSW |
15 |
101,846,373 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4624:Krt79
|
UTSW |
15 |
101,848,241 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4745:Krt79
|
UTSW |
15 |
101,839,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5203:Krt79
|
UTSW |
15 |
101,838,175 (GRCm39) |
missense |
unknown |
|
|
R5382:Krt79
|
UTSW |
15 |
101,839,875 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5568:Krt79
|
UTSW |
15 |
101,838,220 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6902:Krt79
|
UTSW |
15 |
101,840,314 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6916:Krt79
|
UTSW |
15 |
101,844,605 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6998:Krt79
|
UTSW |
15 |
101,846,307 (GRCm39) |
missense |
probably benign |
|
|
R7009:Krt79
|
UTSW |
15 |
101,839,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7663:Krt79
|
UTSW |
15 |
101,840,278 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8161:Krt79
|
UTSW |
15 |
101,839,137 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8184:Krt79
|
UTSW |
15 |
101,838,187 (GRCm39) |
missense |
unknown |
|
|
R8206:Krt79
|
UTSW |
15 |
101,848,705 (GRCm39) |
start gained |
probably null |
|
|
R8705:Krt79
|
UTSW |
15 |
101,846,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8993:Krt79
|
UTSW |
15 |
101,839,441 (GRCm39) |
intron |
probably benign |
|
|
R9055:Krt79
|
UTSW |
15 |
101,839,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9322:Krt79
|
UTSW |
15 |
101,840,245 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9456:Krt79
|
UTSW |
15 |
101,839,904 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9495:Krt79
|
UTSW |
15 |
101,840,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9514:Krt79
|
UTSW |
15 |
101,840,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9533:Krt79
|
UTSW |
15 |
101,848,417 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9560:Krt79
|
UTSW |
15 |
101,846,277 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9705:Krt79
|
UTSW |
15 |
101,839,196 (GRCm39) |
missense |
probably benign |
|
|
R9706:Krt79
|
UTSW |
15 |
101,839,196 (GRCm39) |
missense |
probably benign |
|
|
R9707:Krt79
|
UTSW |
15 |
101,839,196 (GRCm39) |
missense |
probably benign |
|
|
R9714:Krt79
|
UTSW |
15 |
101,839,196 (GRCm39) |
missense |
probably benign |
|
|
R9751:Krt79
|
UTSW |
15 |
101,839,196 (GRCm39) |
missense |
probably benign |
|
|
R9753:Krt79
|
UTSW |
15 |
101,839,196 (GRCm39) |
missense |
probably benign |
|
|
R9772:Krt79
|
UTSW |
15 |
101,839,196 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTAGGGTTACAGATGGCCAAC -3'
(R):5'- GGGATGAGCCTGGATAGTATTC -3'
Sequencing Primer
(F):5'- CCCATCCAGGAAGTGAGC -3'
(R):5'- TGAGCCTGGATAGTATTCCCAATACC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation