Incidental Mutation 'R5367:Krt87'
| ID |
429442 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt87
|
| Ensembl Gene |
ENSMUSG00000047641 |
| Gene Name |
keratin 87 |
| Synonyms |
Krt2-25, Krt83 |
| MMRRC Submission |
042945-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R5367 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
101329371-101336685 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101384875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 407
(L407Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023718]
|
| AlphaFold |
Q6IMF0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023718
AA Change: L407Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023718
Gene: ENSMUSG00000067613
AA Change: L407Q
| 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 |
0.8502 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
97% (70/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
T |
C |
3: 59,947,057 (GRCm39) |
Y252H |
probably damaging |
Het |
| Aadat |
T |
C |
8: 60,979,630 (GRCm39) |
I164T |
probably damaging |
Het |
| Adam11 |
A |
G |
11: 102,664,479 (GRCm39) |
H389R |
probably benign |
Het |
| Alkbh5 |
G |
T |
11: 60,429,529 (GRCm39) |
R94L |
possibly damaging |
Het |
| Ampd3 |
A |
G |
7: 110,407,078 (GRCm39) |
K644R |
possibly damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,722,461 (GRCm39) |
L328H |
probably damaging |
Het |
| Ankrd55 |
G |
T |
13: 112,455,036 (GRCm39) |
V45F |
probably damaging |
Het |
| Apol7c |
C |
A |
15: 77,410,347 (GRCm39) |
V200F |
probably damaging |
Het |
| Arap1 |
G |
A |
7: 101,058,337 (GRCm39) |
V721M |
probably damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,227,156 (GRCm39) |
D400G |
probably damaging |
Het |
| Bmp4 |
G |
T |
14: 46,621,950 (GRCm39) |
T198K |
possibly damaging |
Het |
| Cblb |
T |
A |
16: 52,025,016 (GRCm39) |
F970L |
probably damaging |
Het |
| Celf5 |
A |
G |
10: 81,303,098 (GRCm39) |
S148P |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,445,486 (GRCm39) |
C1708S |
possibly damaging |
Het |
| Clec2l |
T |
C |
6: 38,654,459 (GRCm39) |
F147L |
possibly damaging |
Het |
| Cnksr1 |
T |
A |
4: 133,957,525 (GRCm39) |
I465F |
possibly damaging |
Het |
| Coq10b |
A |
G |
1: 55,092,143 (GRCm39) |
D37G |
probably benign |
Het |
| Cpq |
T |
G |
15: 33,213,250 (GRCm39) |
Y90D |
possibly damaging |
Het |
| Depdc1a |
G |
A |
3: 159,229,591 (GRCm39) |
|
probably null |
Het |
| Eif2ak4 |
T |
A |
2: 118,266,639 (GRCm39) |
|
probably null |
Het |
| Eif3e |
C |
T |
15: 43,115,700 (GRCm39) |
M355I |
probably damaging |
Het |
| Eif4e1b |
G |
A |
13: 54,934,757 (GRCm39) |
V181M |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,794,680 (GRCm39) |
E113G |
probably damaging |
Het |
| Fads2 |
A |
G |
19: 10,041,649 (GRCm39) |
L438P |
probably damaging |
Het |
| Fbl |
T |
A |
7: 27,874,475 (GRCm39) |
V67E |
probably damaging |
Het |
| Gde1 |
A |
G |
7: 118,304,629 (GRCm39) |
L82P |
probably damaging |
Het |
| Gm10226 |
T |
C |
17: 21,910,884 (GRCm39) |
S40P |
possibly damaging |
Het |
| Gm10717 |
T |
G |
9: 3,026,317 (GRCm39) |
F205C |
probably damaging |
Het |
| Gm1988 |
T |
A |
7: 38,823,204 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6728 |
T |
C |
6: 136,463,502 (GRCm39) |
|
noncoding transcript |
Het |
| Grb14 |
C |
T |
2: 64,747,653 (GRCm39) |
V369I |
probably benign |
Het |
| Jag1 |
T |
A |
2: 136,927,014 (GRCm39) |
Q915L |
possibly damaging |
Het |
| Kdm5d |
G |
A |
Y: 941,645 (GRCm39) |
G1282D |
probably benign |
Het |
| Mlf1 |
A |
T |
3: 67,301,296 (GRCm39) |
H118L |
probably damaging |
Het |
| Mmp10 |
G |
T |
9: 7,505,603 (GRCm39) |
C289F |
probably damaging |
Het |
| Mroh2a |
A |
T |
1: 88,182,687 (GRCm39) |
N1205I |
possibly damaging |
Het |
| Myo9a |
T |
A |
9: 59,807,732 (GRCm39) |
S2029T |
probably damaging |
Het |
| Nap1l4 |
A |
C |
7: 143,088,035 (GRCm39) |
S174R |
probably damaging |
Het |
| Nos3 |
A |
G |
5: 24,576,942 (GRCm39) |
T490A |
probably benign |
Het |
| Or12d2 |
T |
A |
17: 37,625,147 (GRCm39) |
I43F |
probably damaging |
Het |
| Or4k35 |
T |
A |
2: 111,100,235 (GRCm39) |
Q159L |
possibly damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,800 (GRCm39) |
V80A |
possibly damaging |
Het |
| Or5b106 |
G |
A |
19: 13,123,865 (GRCm39) |
L53F |
probably damaging |
Het |
| Or5g23 |
A |
T |
2: 85,438,718 (GRCm39) |
C179S |
probably damaging |
Het |
| Pdlim7 |
G |
C |
13: 55,653,975 (GRCm39) |
T214S |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,197,802 (GRCm39) |
E1578G |
probably damaging |
Het |
| Ptcd1 |
T |
A |
5: 145,084,715 (GRCm39) |
|
probably benign |
Het |
| Sart3 |
C |
T |
5: 113,897,277 (GRCm39) |
|
probably null |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Scrn2 |
A |
G |
11: 96,923,953 (GRCm39) |
D279G |
possibly damaging |
Het |
| Sh2d3c |
A |
G |
2: 32,635,914 (GRCm39) |
D94G |
probably damaging |
Het |
| Slc12a4 |
A |
T |
8: 106,678,266 (GRCm39) |
V309E |
probably damaging |
Het |
| Slc1a6 |
A |
G |
10: 78,623,637 (GRCm39) |
E12G |
probably damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,635,135 (GRCm39) |
|
probably null |
Het |
| Smr3a |
T |
C |
5: 88,155,897 (GRCm39) |
|
probably benign |
Het |
| Stox2 |
A |
G |
8: 47,656,260 (GRCm39) |
I72T |
probably damaging |
Het |
| Tmem234 |
G |
T |
4: 129,494,500 (GRCm39) |
|
probably benign |
Het |
| Tmem35b |
A |
G |
4: 127,018,266 (GRCm39) |
Q20R |
possibly damaging |
Het |
| Tom1l2 |
G |
A |
11: 60,132,634 (GRCm39) |
H430Y |
probably benign |
Het |
| Tpo |
T |
C |
12: 30,153,289 (GRCm39) |
Y355C |
probably damaging |
Het |
| Tulp2 |
A |
G |
7: 45,166,075 (GRCm39) |
N122S |
possibly damaging |
Het |
| Washc2 |
T |
A |
6: 116,236,111 (GRCm39) |
L1194H |
probably damaging |
Het |
| Xbp1 |
T |
C |
11: 5,471,910 (GRCm39) |
V12A |
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 |
|
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 |
|
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'- GTAGCGACAATGGCTTGTG -3'
(R):5'- TGTTCCCAGAACACCAAGCTG -3'
Sequencing Primer
(F):5'- GTGTTAAGTCCACTTAAGGCCAG -3'
(R):5'- TGCTGTGACCCAATCTGAG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation