Incidental Mutation 'R6135:Krt87'
| ID |
488316 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt87
|
| Ensembl Gene |
ENSMUSG00000047641 |
| Gene Name |
keratin 87 |
| Synonyms |
Krt2-25, Krt83 |
| MMRRC Submission |
044282-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R6135 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
101329371-101336685 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101385415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 319
(E319V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023718]
|
| AlphaFold |
Q6IMF0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023718
AA Change: E319V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023718
Gene: ENSMUSG00000067613
AA Change: E319V
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230173
|
| Meta Mutation Damage Score |
0.7132 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
G |
13: 77,402,335 (GRCm39) |
E95G |
probably damaging |
Het |
| Abca4 |
C |
T |
3: 121,932,096 (GRCm39) |
T250I |
possibly damaging |
Het |
| Ahi1 |
G |
A |
10: 20,845,020 (GRCm39) |
R375H |
probably benign |
Het |
| Aimp1 |
T |
C |
3: 132,377,844 (GRCm39) |
K174E |
probably benign |
Het |
| Aire |
A |
G |
10: 77,878,801 (GRCm39) |
L82P |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,259,656 (GRCm39) |
V760D |
possibly damaging |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Carf |
C |
T |
1: 60,187,122 (GRCm39) |
S540F |
probably damaging |
Het |
| Ccdc171 |
T |
A |
4: 83,473,087 (GRCm39) |
M172K |
probably benign |
Het |
| Chpt1 |
A |
T |
10: 88,318,145 (GRCm39) |
V199E |
possibly damaging |
Het |
| Cldn16 |
G |
A |
16: 26,293,018 (GRCm39) |
D65N |
possibly damaging |
Het |
| Cnga3 |
G |
A |
1: 37,271,318 (GRCm39) |
|
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,244,246 (GRCm39) |
T440A |
unknown |
Het |
| Creb3l3 |
A |
G |
10: 80,921,552 (GRCm39) |
I331T |
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,832,379 (GRCm39) |
T1410A |
probably benign |
Het |
| Dnm1 |
T |
A |
2: 32,223,075 (GRCm39) |
|
probably null |
Het |
| Fhl5 |
A |
T |
4: 25,214,716 (GRCm39) |
Y20* |
probably null |
Het |
| Fignl1 |
T |
C |
11: 11,752,557 (GRCm39) |
D166G |
probably benign |
Het |
| Ghr |
T |
C |
15: 3,355,447 (GRCm39) |
I279V |
probably benign |
Het |
| Gm1979 |
T |
G |
5: 26,205,298 (GRCm39) |
S180R |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,189,292 (GRCm39) |
V1232A |
possibly damaging |
Het |
| Ifnar1 |
A |
G |
16: 91,298,508 (GRCm39) |
|
probably null |
Het |
| Inpp5d |
A |
G |
1: 87,548,119 (GRCm39) |
|
probably null |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kcnh2 |
T |
A |
5: 24,526,791 (GRCm39) |
S1002C |
probably damaging |
Het |
| Lbp |
A |
G |
2: 158,159,469 (GRCm39) |
I201V |
probably benign |
Het |
| Man1a2 |
G |
A |
3: 100,592,248 (GRCm39) |
|
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,188,326 (GRCm39) |
T996A |
possibly damaging |
Het |
| Nat10 |
A |
G |
2: 103,573,661 (GRCm39) |
L319P |
probably damaging |
Het |
| Nelfa |
A |
G |
5: 34,056,620 (GRCm39) |
|
probably null |
Het |
| Or5b97 |
A |
C |
19: 12,878,803 (GRCm39) |
Y114D |
probably damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,138,870 (GRCm39) |
N166K |
probably damaging |
Het |
| Pcdha6 |
C |
A |
18: 37,102,269 (GRCm39) |
N487K |
probably damaging |
Het |
| Pcsk2 |
A |
G |
2: 143,415,460 (GRCm39) |
D91G |
possibly damaging |
Het |
| Pigp |
A |
G |
16: 94,171,065 (GRCm39) |
F22L |
probably benign |
Het |
| Pnpla8 |
A |
C |
12: 44,329,670 (GRCm39) |
N74T |
probably benign |
Het |
| Ppargc1b |
T |
C |
18: 61,448,980 (GRCm39) |
K114R |
probably damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,693,430 (GRCm39) |
D645G |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,332,854 (GRCm39) |
V2688I |
probably benign |
Het |
| Rnf43 |
A |
G |
11: 87,622,951 (GRCm39) |
H557R |
probably damaging |
Het |
| Rp1l1 |
C |
T |
14: 64,267,545 (GRCm39) |
P1044S |
probably damaging |
Het |
| Rrp9 |
G |
A |
9: 106,360,221 (GRCm39) |
D210N |
probably damaging |
Het |
| Scin |
G |
T |
12: 40,129,807 (GRCm39) |
Q329K |
possibly damaging |
Het |
| Scn7a |
T |
A |
2: 66,534,244 (GRCm39) |
H477L |
probably benign |
Het |
| Slc26a8 |
A |
T |
17: 28,888,914 (GRCm39) |
M195K |
probably benign |
Het |
| Spata13 |
A |
G |
14: 60,993,877 (GRCm39) |
K1110E |
probably damaging |
Het |
| Spata24 |
T |
A |
18: 35,793,503 (GRCm39) |
E103V |
probably damaging |
Het |
| Srek1 |
T |
C |
13: 103,910,894 (GRCm39) |
N25S |
probably damaging |
Het |
| Strada |
T |
C |
11: 106,064,140 (GRCm39) |
Y59C |
probably damaging |
Het |
| Tnrc6c |
T |
C |
11: 117,626,831 (GRCm39) |
W1143R |
probably damaging |
Het |
| Trip12 |
A |
T |
1: 84,738,559 (GRCm39) |
D765E |
probably benign |
Het |
| Ttbk2 |
G |
A |
2: 120,580,798 (GRCm39) |
R444C |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,644,303 (GRCm39) |
I4555N |
possibly damaging |
Het |
| Vcan |
C |
T |
13: 89,838,045 (GRCm39) |
E2500K |
probably benign |
Het |
| Vps16 |
A |
G |
2: 130,280,573 (GRCm39) |
Y200C |
possibly damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,693,668 (GRCm39) |
H2719L |
probably damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,311,653 (GRCm39) |
D347G |
possibly damaging |
Het |
| Zfp653 |
G |
A |
9: 21,969,558 (GRCm39) |
T236I |
probably damaging |
Het |
| Zscan4-ps1 |
A |
T |
7: 10,799,913 (GRCm39) |
H325Q |
probably benign |
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 |
|
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 |
|
R8172:Krt87
|
UTSW |
15 |
101,383,284 (GRCm39) |
missense |
probably benign |
0.25 |
|
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'- GCCTGAGTGAGCATGATCAG -3'
(R):5'- AGATTGCACACAGCTCTAGG -3'
Sequencing Primer
(F):5'- CCCAGCTGTGCAAATAGGTG -3'
(R):5'- GCTCTAGGCTGAGGAGGC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation