Incidental Mutation 'R5405:Krt77'
| ID |
428689 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt77
|
| Ensembl Gene |
ENSMUSG00000067594 |
| Gene Name |
keratin 77 |
| Synonyms |
4732484G22Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5405 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
101767166-101778140 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101769523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 413
(I413V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085311
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087996]
|
| AlphaFold |
Q6IFZ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087996
AA Change: I413V
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000085311
Gene: ENSMUSG00000067594
AA Change: I413V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Keratin_2_head
|
4 |
163 |
1.5e-46 |
PFAM |
|
Filament
|
166 |
479 |
6.11e-149 |
SMART |
|
low complexity region
|
485 |
497 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
543 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229995
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| 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 the skin and eccrine sweat glands. 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 |
|---|
| Add2 |
A |
T |
6: 86,078,179 (GRCm39) |
T298S |
probably benign |
Het |
| Atad2b |
G |
A |
12: 4,990,098 (GRCm39) |
R141Q |
possibly damaging |
Het |
| B3glct |
A |
G |
5: 149,632,818 (GRCm39) |
Q56R |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,894,894 (GRCm39) |
Y358C |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,966,085 (GRCm39) |
E1136G |
possibly damaging |
Het |
| Ceacam1 |
A |
T |
7: 25,163,290 (GRCm39) |
N314K |
probably benign |
Het |
| Ces1g |
A |
T |
8: 94,032,496 (GRCm39) |
I488N |
probably benign |
Het |
| Chd6 |
C |
T |
2: 160,807,310 (GRCm39) |
R1968K |
probably benign |
Het |
| Cyp27b1 |
C |
T |
10: 126,886,255 (GRCm39) |
T312I |
possibly damaging |
Het |
| Cyp39a1 |
C |
T |
17: 43,987,831 (GRCm39) |
A99V |
probably damaging |
Het |
| Dipk1a |
C |
T |
5: 108,057,827 (GRCm39) |
V199I |
probably benign |
Het |
| Dnaaf9 |
A |
G |
2: 130,554,380 (GRCm39) |
S890P |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,612,018 (GRCm39) |
D620V |
probably benign |
Het |
| Elapor1 |
A |
T |
3: 108,375,102 (GRCm39) |
C588* |
probably null |
Het |
| Erc1 |
A |
T |
6: 119,801,905 (GRCm39) |
S37R |
probably damaging |
Het |
| Gm10801 |
TC |
TCGAC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
| Gm14443 |
T |
C |
2: 175,013,644 (GRCm39) |
I43V |
possibly damaging |
Het |
| Ins2 |
C |
T |
7: 142,233,134 (GRCm39) |
R46H |
probably damaging |
Het |
| Lpin3 |
A |
G |
2: 160,745,849 (GRCm39) |
D660G |
probably damaging |
Het |
| Mpp3 |
T |
C |
11: 101,901,047 (GRCm39) |
Q318R |
probably benign |
Het |
| Mpzl2 |
T |
C |
9: 44,958,503 (GRCm39) |
S80P |
probably damaging |
Het |
| Mrpl2 |
T |
C |
17: 46,960,036 (GRCm39) |
|
probably null |
Het |
| Mrpl48 |
T |
C |
7: 100,209,000 (GRCm39) |
Y108C |
probably damaging |
Het |
| Ndufaf7 |
C |
A |
17: 79,246,044 (GRCm39) |
F92L |
probably damaging |
Het |
| Or14c43 |
T |
C |
7: 86,115,383 (GRCm39) |
Y255H |
probably damaging |
Het |
| Or6c8 |
T |
A |
10: 128,915,265 (GRCm39) |
D189V |
probably damaging |
Het |
| Rec114 |
T |
C |
9: 58,567,624 (GRCm39) |
S121G |
probably benign |
Het |
| Rnase10 |
A |
T |
14: 51,247,317 (GRCm39) |
I195F |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rreb1 |
A |
G |
13: 38,133,087 (GRCm39) |
E1754G |
probably damaging |
Het |
| Sec31a |
G |
T |
5: 100,531,657 (GRCm39) |
C238* |
probably null |
Het |
| Slc12a6 |
T |
C |
2: 112,169,724 (GRCm39) |
V337A |
probably damaging |
Het |
| Slc25a37 |
A |
G |
14: 69,482,344 (GRCm39) |
V319A |
possibly damaging |
Het |
| Slc26a10 |
T |
C |
10: 127,010,864 (GRCm39) |
Y456C |
probably benign |
Het |
| Slc27a3 |
G |
A |
3: 90,294,382 (GRCm39) |
T463I |
probably benign |
Het |
| Slc66a3 |
A |
G |
12: 17,043,315 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,524,149 (GRCm39) |
D781E |
probably benign |
Het |
| Tle1 |
T |
C |
4: 72,057,208 (GRCm39) |
|
probably benign |
Het |
| Tmem229b-ps |
T |
C |
10: 53,351,325 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Vmn2r71 |
A |
G |
7: 85,268,622 (GRCm39) |
D275G |
probably benign |
Het |
| Wdr1 |
T |
C |
5: 38,692,543 (GRCm39) |
T121A |
probably benign |
Het |
| Zdhhc19 |
C |
T |
16: 32,325,869 (GRCm39) |
R240C |
possibly damaging |
Het |
|
| Other mutations in Krt77 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01060:Krt77
|
APN |
15 |
101,769,315 (GRCm39) |
splice site |
probably benign |
|
|
IGL01912:Krt77
|
APN |
15 |
101,772,286 (GRCm39) |
splice site |
probably benign |
|
|
IGL02505:Krt77
|
APN |
15 |
101,769,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02875:Krt77
|
APN |
15 |
101,777,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0266:Krt77
|
UTSW |
15 |
101,777,813 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0347:Krt77
|
UTSW |
15 |
101,768,304 (GRCm39) |
missense |
unknown |
|
|
R0762:Krt77
|
UTSW |
15 |
101,769,561 (GRCm39) |
splice site |
probably null |
|
|
R1528:Krt77
|
UTSW |
15 |
101,769,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1556:Krt77
|
UTSW |
15 |
101,769,713 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1973:Krt77
|
UTSW |
15 |
101,769,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4434:Krt77
|
UTSW |
15 |
101,773,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4436:Krt77
|
UTSW |
15 |
101,773,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4946:Krt77
|
UTSW |
15 |
101,777,998 (GRCm39) |
missense |
unknown |
|
|
R5507:Krt77
|
UTSW |
15 |
101,769,665 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5888:Krt77
|
UTSW |
15 |
101,773,888 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5978:Krt77
|
UTSW |
15 |
101,771,363 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5994:Krt77
|
UTSW |
15 |
101,771,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6039:Krt77
|
UTSW |
15 |
101,769,351 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6039:Krt77
|
UTSW |
15 |
101,769,351 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6241:Krt77
|
UTSW |
15 |
101,773,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6260:Krt77
|
UTSW |
15 |
101,772,807 (GRCm39) |
nonsense |
probably null |
|
|
R6280:Krt77
|
UTSW |
15 |
101,773,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6500:Krt77
|
UTSW |
15 |
101,772,772 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6563:Krt77
|
UTSW |
15 |
101,771,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7153:Krt77
|
UTSW |
15 |
101,773,931 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7156:Krt77
|
UTSW |
15 |
101,773,931 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7205:Krt77
|
UTSW |
15 |
101,777,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7379:Krt77
|
UTSW |
15 |
101,769,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7407:Krt77
|
UTSW |
15 |
101,768,530 (GRCm39) |
missense |
unknown |
|
|
R8297:Krt77
|
UTSW |
15 |
101,768,407 (GRCm39) |
small deletion |
probably benign |
|
|
R9221:Krt77
|
UTSW |
15 |
101,774,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9513:Krt77
|
UTSW |
15 |
101,769,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9516:Krt77
|
UTSW |
15 |
101,769,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGAACCTGGCTGCTGTAC -3'
(R):5'- AACCGTAACATCCAGAGGCTG -3'
Sequencing Primer
(F):5'- CTCCAAAAGCTGGCGGTAG -3'
(R):5'- AGGCTGCGGGCAGAGATC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation