Incidental Mutation 'R8172:Krt87'
| ID |
634207 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt87
|
| Ensembl Gene |
ENSMUSG00000047641 |
| Gene Name |
keratin 87 |
| Synonyms |
Krt2-25, Krt83 |
| MMRRC Submission |
067598-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R8172 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
101329371-101336685 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 101383284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 474
(C474Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023718]
|
| AlphaFold |
Q6IMF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023718
AA Change: C474Y
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000023718
Gene: ENSMUSG00000067613
AA Change: C474Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Keratin_2_head
|
2 |
100 |
5.9e-16 |
PFAM |
|
Filament
|
103 |
414 |
7.02e-149 |
SMART |
|
low complexity region
|
422 |
436 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
T |
A |
16: 34,977,427 (GRCm39) |
L320Q |
probably damaging |
Het |
| Adgre4 |
A |
T |
17: 56,104,769 (GRCm39) |
L278F |
probably benign |
Het |
| Agfg2 |
C |
A |
5: 137,665,431 (GRCm39) |
R108L |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,779,324 (GRCm39) |
|
probably null |
Het |
| Ascl2 |
G |
T |
7: 142,522,336 (GRCm39) |
N37K |
possibly damaging |
Het |
| Baiap3 |
C |
A |
17: 25,463,096 (GRCm39) |
D1043Y |
probably damaging |
Het |
| Cby2 |
T |
A |
14: 75,829,241 (GRCm39) |
|
probably null |
Het |
| Ccdc18 |
T |
C |
5: 108,311,640 (GRCm39) |
|
probably null |
Het |
| Cemip |
T |
A |
7: 83,646,433 (GRCm39) |
D205V |
probably damaging |
Het |
| Cenpn |
G |
A |
8: 117,658,333 (GRCm39) |
G93D |
probably benign |
Het |
| Clpsl2 |
T |
A |
17: 28,768,556 (GRCm39) |
S23R |
possibly damaging |
Het |
| Cnot3 |
T |
A |
7: 3,661,724 (GRCm39) |
I672N |
possibly damaging |
Het |
| Crygs |
A |
G |
16: 22,625,292 (GRCm39) |
Y50H |
probably damaging |
Het |
| Cyp4x1 |
T |
C |
4: 114,968,874 (GRCm39) |
T403A |
possibly damaging |
Het |
| Dnajc28 |
G |
A |
16: 91,413,795 (GRCm39) |
R150* |
probably null |
Het |
| Fam184b |
C |
T |
5: 45,741,709 (GRCm39) |
G174D |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,178,638 (GRCm39) |
D1474V |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,108,468 (GRCm39) |
D165E |
possibly damaging |
Het |
| Fpr-rs7 |
A |
T |
17: 20,334,443 (GRCm39) |
F16I |
probably benign |
Het |
| Gpr176 |
G |
A |
2: 118,114,615 (GRCm39) |
T65I |
probably damaging |
Het |
| H2-Q10 |
C |
T |
17: 35,781,996 (GRCm39) |
T206I |
probably null |
Het |
| Hadha |
C |
G |
5: 30,350,285 (GRCm39) |
A88P |
probably damaging |
Het |
| Hlcs |
A |
T |
16: 94,068,485 (GRCm39) |
L245Q |
probably damaging |
Het |
| Hnrnph1 |
T |
C |
11: 50,270,732 (GRCm39) |
V113A |
probably damaging |
Het |
| Hsd3b7 |
G |
A |
7: 127,401,546 (GRCm39) |
V224M |
probably damaging |
Het |
| Igha |
T |
C |
12: 113,223,592 (GRCm39) |
D88G |
|
Het |
| Iqca1l |
T |
C |
5: 24,748,608 (GRCm39) |
M803V |
probably benign |
Het |
| Kdm7a |
T |
C |
6: 39,125,965 (GRCm39) |
K610R |
probably benign |
Het |
| Lrrc74a |
T |
A |
12: 86,788,530 (GRCm39) |
L170H |
probably damaging |
Het |
| Lyg2 |
T |
C |
1: 37,946,748 (GRCm39) |
T178A |
probably benign |
Het |
| Map2k2 |
T |
A |
10: 80,959,442 (GRCm39) |
|
probably null |
Het |
| Mast4 |
C |
T |
13: 103,089,633 (GRCm39) |
|
probably null |
Het |
| Mtmr14 |
T |
A |
6: 113,216,529 (GRCm39) |
D8E |
probably benign |
Het |
| Neu2 |
C |
T |
1: 87,524,633 (GRCm39) |
P206L |
probably damaging |
Het |
| Oga |
C |
T |
19: 45,765,339 (GRCm39) |
R156H |
probably damaging |
Het |
| Or10al6 |
A |
G |
17: 38,083,326 (GRCm39) |
T261A |
probably benign |
Het |
| Or4c105 |
A |
T |
2: 88,647,986 (GRCm39) |
Q157L |
probably damaging |
Het |
| Poc1b |
C |
A |
10: 98,980,338 (GRCm39) |
|
probably null |
Het |
| Proser1 |
T |
A |
3: 53,386,272 (GRCm39) |
V718E |
possibly damaging |
Het |
| Ptgr2 |
T |
A |
12: 84,360,783 (GRCm39) |
L351Q |
possibly damaging |
Het |
| Ptprf |
A |
G |
4: 118,068,275 (GRCm39) |
Y1754H |
probably benign |
Het |
| Scgb2b3 |
T |
C |
7: 31,058,476 (GRCm39) |
K109R |
possibly damaging |
Het |
| Scn2a |
A |
T |
2: 65,520,672 (GRCm39) |
H556L |
probably benign |
Het |
| Scn7a |
A |
T |
2: 66,506,191 (GRCm39) |
M1566K |
possibly damaging |
Het |
| Slco5a1 |
A |
T |
1: 13,060,490 (GRCm39) |
L77* |
probably null |
Het |
| Stk31 |
T |
C |
6: 49,394,261 (GRCm39) |
F208L |
possibly damaging |
Het |
| Tbcd |
C |
T |
11: 121,384,711 (GRCm39) |
T315M |
probably benign |
Het |
| Tbx4 |
A |
G |
11: 85,801,933 (GRCm39) |
I189V |
probably benign |
Het |
| Tia1 |
T |
A |
6: 86,404,682 (GRCm39) |
Y306N |
probably benign |
Het |
| Ttc21b |
T |
A |
2: 66,082,500 (GRCm39) |
Y33F |
probably benign |
Het |
| Usp47 |
T |
A |
7: 111,687,133 (GRCm39) |
L677* |
probably null |
Het |
|
| Other mutations in Krt87 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00481:Krt87
|
APN |
15 |
101,386,092 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL00987:Krt87
|
APN |
15 |
101,336,327 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01019:Krt87
|
APN |
15 |
101,336,312 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01066:Krt87
|
APN |
15 |
101,336,266 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01087:Krt87
|
APN |
15 |
101,329,706 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01315:Krt87
|
APN |
15 |
101,384,848 (GRCm39) |
splice site |
probably benign |
|
|
IGL01572:Krt87
|
APN |
15 |
101,334,414 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01702:Krt87
|
APN |
15 |
101,389,099 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02123:Krt87
|
APN |
15 |
101,385,466 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02353:Krt87
|
APN |
15 |
101,383,339 (GRCm39) |
missense |
probably benign |
|
|
IGL02360:Krt87
|
APN |
15 |
101,383,339 (GRCm39) |
missense |
probably benign |
|
|
IGL02395:Krt87
|
APN |
15 |
101,385,833 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02633:Krt87
|
APN |
15 |
101,389,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02716:Krt87
|
APN |
15 |
101,332,485 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03287:Krt87
|
APN |
15 |
101,330,218 (GRCm39) |
splice site |
probably benign |
|
|
R0144:Krt87
|
UTSW |
15 |
101,336,542 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0357:Krt87
|
UTSW |
15 |
101,384,900 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0650:Krt87
|
UTSW |
15 |
101,384,921 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0928:Krt87
|
UTSW |
15 |
101,389,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1126:Krt87
|
UTSW |
15 |
101,385,363 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1196:Krt87
|
UTSW |
15 |
101,389,314 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1252:Krt87
|
UTSW |
15 |
101,385,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1513:Krt87
|
UTSW |
15 |
101,387,538 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1612:Krt87
|
UTSW |
15 |
101,386,092 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1870:Krt87
|
UTSW |
15 |
101,385,071 (GRCm39) |
missense |
probably benign |
|
|
R2173:Krt87
|
UTSW |
15 |
101,385,818 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2196:Krt87
|
UTSW |
15 |
101,336,314 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2209:Krt87
|
UTSW |
15 |
101,330,989 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2432:Krt87
|
UTSW |
15 |
101,386,037 (GRCm39) |
nonsense |
probably null |
|
|
R2568:Krt87
|
UTSW |
15 |
101,385,708 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2696:Krt87
|
UTSW |
15 |
101,384,890 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3508:Krt87
|
UTSW |
15 |
101,386,039 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4364:Krt87
|
UTSW |
15 |
101,385,395 (GRCm39) |
missense |
probably benign |
|
|
R4366:Krt87
|
UTSW |
15 |
101,385,395 (GRCm39) |
missense |
probably benign |
|
|
R4606:Krt87
|
UTSW |
15 |
101,384,930 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4721:Krt87
|
UTSW |
15 |
101,385,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4784:Krt87
|
UTSW |
15 |
101,385,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4987:Krt87
|
UTSW |
15 |
101,384,890 (GRCm39) |
missense |
probably benign |
|
|
R5008:Krt87
|
UTSW |
15 |
101,389,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5101:Krt87
|
UTSW |
15 |
101,385,391 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5367:Krt87
|
UTSW |
15 |
101,384,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5516:Krt87
|
UTSW |
15 |
101,385,002 (GRCm39) |
nonsense |
probably null |
|
|
R5651:Krt87
|
UTSW |
15 |
101,331,910 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5949:Krt87
|
UTSW |
15 |
101,385,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5972:Krt87
|
UTSW |
15 |
101,385,467 (GRCm39) |
missense |
probably benign |
|
|
R6036:Krt87
|
UTSW |
15 |
101,385,412 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6036:Krt87
|
UTSW |
15 |
101,385,412 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6135:Krt87
|
UTSW |
15 |
101,385,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6437:Krt87
|
UTSW |
15 |
101,336,273 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6615:Krt87
|
UTSW |
15 |
101,334,443 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6680:Krt87
|
UTSW |
15 |
101,331,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7151:Krt87
|
UTSW |
15 |
101,387,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7186:Krt87
|
UTSW |
15 |
101,385,083 (GRCm39) |
splice site |
probably null |
|
|
R7297:Krt87
|
UTSW |
15 |
101,387,528 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7541:Krt87
|
UTSW |
15 |
101,336,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7617:Krt87
|
UTSW |
15 |
101,336,426 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7708:Krt87
|
UTSW |
15 |
101,385,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7796:Krt87
|
UTSW |
15 |
101,383,865 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8463:Krt87
|
UTSW |
15 |
101,332,506 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8669:Krt87
|
UTSW |
15 |
101,385,777 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8695:Krt87
|
UTSW |
15 |
101,331,901 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8771:Krt87
|
UTSW |
15 |
101,385,779 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9478:Krt87
|
UTSW |
15 |
101,385,449 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9489:Krt87
|
UTSW |
15 |
101,336,484 (GRCm39) |
nonsense |
probably null |
|
|
R9592:Krt87
|
UTSW |
15 |
101,386,060 (GRCm39) |
missense |
probably benign |
|
|
R9605:Krt87
|
UTSW |
15 |
101,336,484 (GRCm39) |
nonsense |
probably null |
|
|
R9629:Krt87
|
UTSW |
15 |
101,389,048 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9642:Krt87
|
UTSW |
15 |
101,385,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAAACAGCACTGGGTATTCC -3'
(R):5'- TCAAGACTGACCCTGCCTTTG -3'
Sequencing Primer
(F):5'- TATTCCCAGGGCTGCAGCTG -3'
(R):5'- GTTCTCACAGGTGTCAGCAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation