Incidental Mutation 'R4436:Krt77'
| ID |
329552 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt77
|
| Ensembl Gene |
ENSMUSG00000067594 |
| Gene Name |
keratin 77 |
| Synonyms |
4732484G22Rik |
| MMRRC Submission |
041702-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4436 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
101767166-101778140 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101773904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 250
(V250E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085311
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087996]
|
| AlphaFold |
Q6IFZ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087996
AA Change: V250E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085311
Gene: ENSMUSG00000067594
AA Change: V250E
| 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
|
| Meta Mutation Damage Score |
0.4171 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
96% (54/56) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Aff3 |
T |
C |
1: 38,248,768 (GRCm39) |
I779V |
possibly damaging |
Het |
| Asap1 |
T |
G |
15: 64,221,692 (GRCm39) |
D15A |
probably benign |
Het |
| Ascc2 |
A |
G |
11: 4,606,305 (GRCm39) |
D193G |
probably damaging |
Het |
| Bcl2a1d |
A |
T |
9: 88,613,753 (GRCm39) |
M7K |
probably benign |
Het |
| Ccdc168 |
T |
C |
1: 44,095,276 (GRCm39) |
I1941V |
probably benign |
Het |
| Ccdc85a |
T |
C |
11: 28,526,457 (GRCm39) |
T384A |
probably benign |
Het |
| Cd86 |
T |
C |
16: 36,441,194 (GRCm39) |
N91S |
probably benign |
Het |
| Cdk17 |
T |
A |
10: 93,047,758 (GRCm39) |
|
probably null |
Het |
| Cemip |
T |
C |
7: 83,636,637 (GRCm39) |
D332G |
probably null |
Het |
| Ces2f |
G |
A |
8: 105,679,788 (GRCm39) |
R427H |
probably benign |
Het |
| Clec4a2 |
G |
A |
6: 123,105,013 (GRCm39) |
|
probably null |
Het |
| Coa8 |
T |
A |
12: 111,717,642 (GRCm39) |
D167E |
probably benign |
Het |
| Coq9 |
T |
C |
8: 95,579,743 (GRCm39) |
F198L |
probably benign |
Het |
| Ddx24 |
C |
A |
12: 103,390,233 (GRCm39) |
A253S |
probably damaging |
Het |
| Esyt3 |
A |
T |
9: 99,240,078 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
C |
A |
11: 55,187,024 (GRCm39) |
G1274V |
probably damaging |
Het |
| Ggn |
A |
T |
7: 28,870,976 (GRCm39) |
T132S |
probably damaging |
Het |
| Gm11568 |
T |
A |
11: 99,749,421 (GRCm39) |
C209S |
unknown |
Het |
| Gm6931 |
T |
A |
16: 49,245,225 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr20 |
C |
T |
15: 73,567,649 (GRCm39) |
V247I |
probably benign |
Het |
| Grm8 |
A |
T |
6: 27,761,237 (GRCm39) |
V329E |
possibly damaging |
Het |
| Gtf2ird2 |
T |
C |
5: 134,223,808 (GRCm39) |
L114P |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hivep3 |
C |
T |
4: 119,953,120 (GRCm39) |
P479S |
probably benign |
Het |
| Igkv6-20 |
A |
G |
6: 70,313,104 (GRCm39) |
V23A |
probably damaging |
Het |
| Ikbip |
T |
A |
10: 90,937,751 (GRCm39) |
N141K |
probably damaging |
Het |
| Irag1 |
T |
C |
7: 110,476,124 (GRCm39) |
E815G |
probably damaging |
Het |
| Ltn1 |
A |
T |
16: 87,202,502 (GRCm39) |
C1050S |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,421,135 (GRCm39) |
I40V |
probably benign |
Het |
| Or2h2b-ps1 |
A |
G |
17: 37,480,727 (GRCm39) |
F271L |
probably benign |
Het |
| Or4k15b |
T |
C |
14: 50,272,287 (GRCm39) |
D191G |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,100,246 (GRCm39) |
M1885V |
probably damaging |
Het |
| Plek |
A |
G |
11: 16,942,972 (GRCm39) |
Y107H |
probably damaging |
Het |
| Ppp1r15a |
C |
T |
7: 45,174,203 (GRCm39) |
V202M |
probably damaging |
Het |
| Ppp1r3e |
C |
A |
14: 55,114,007 (GRCm39) |
A222S |
probably benign |
Het |
| Rac2 |
G |
T |
15: 78,454,943 (GRCm39) |
Y32* |
probably null |
Het |
| Sdf4 |
T |
G |
4: 156,093,404 (GRCm39) |
|
probably null |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Spic |
T |
A |
10: 88,512,817 (GRCm39) |
R111S |
probably benign |
Het |
| Ssh3 |
A |
G |
19: 4,315,394 (GRCm39) |
F315L |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,595,253 (GRCm39) |
K11972R |
probably damaging |
Het |
| Tubd1 |
C |
T |
11: 86,439,745 (GRCm39) |
S30F |
probably benign |
Het |
| Vmn1r17 |
G |
C |
6: 57,337,719 (GRCm39) |
I166M |
possibly damaging |
Het |
| Vmn2r94 |
T |
C |
17: 18,478,645 (GRCm39) |
Y34C |
probably damaging |
Het |
| Xpo7 |
G |
A |
14: 70,906,869 (GRCm39) |
T945M |
probably damaging |
Het |
| Zfp316 |
C |
A |
5: 143,239,803 (GRCm39) |
A739S |
probably damaging |
Het |
| Zswim3 |
T |
A |
2: 164,662,563 (GRCm39) |
C348S |
probably benign |
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 |
|
R4946:Krt77
|
UTSW |
15 |
101,777,998 (GRCm39) |
missense |
unknown |
|
|
R5405:Krt77
|
UTSW |
15 |
101,769,523 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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'- GTCTCTGCTATCCTGCACAG -3'
(R):5'- AAAGCTGTTCTGCGCTTGGG -3'
Sequencing Primer
(F):5'- ACAGGACTGGGTGCCGTATG -3'
(R):5'- TTCCTGGAGCAGCAGAACCAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation