Incidental Mutation 'R7151:Krt87'
| ID |
554158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt87
|
| Ensembl Gene |
ENSMUSG00000047641 |
| Gene Name |
keratin 87 |
| Synonyms |
Krt2-25, Krt83 |
| MMRRC Submission |
045253-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R7151 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
101329371-101336685 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 101387529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 170
(D170Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023718]
|
| AlphaFold |
Q6IMF0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023718
AA Change: D170Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023718
Gene: ENSMUSG00000067613
AA Change: D170Y
| 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: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6330409D20Rik |
T |
A |
2: 32,630,618 (GRCm39) |
Q52L |
unknown |
Het |
| Acsl1 |
A |
G |
8: 46,966,634 (GRCm39) |
D202G |
probably damaging |
Het |
| Adam3 |
A |
T |
8: 25,185,271 (GRCm39) |
C476S |
probably damaging |
Het |
| Adam34 |
T |
A |
8: 44,104,499 (GRCm39) |
E382V |
probably benign |
Het |
| Akap5 |
G |
A |
12: 76,375,023 (GRCm39) |
V152I |
probably benign |
Het |
| Aldh5a1 |
C |
T |
13: 25,121,382 (GRCm39) |
W57* |
probably null |
Het |
| Angptl2 |
C |
T |
2: 33,133,922 (GRCm39) |
Q415* |
probably null |
Het |
| Bnc1 |
G |
T |
7: 81,623,055 (GRCm39) |
T724N |
possibly damaging |
Het |
| Brca2 |
T |
C |
5: 150,464,901 (GRCm39) |
V1555A |
probably benign |
Het |
| Btn1a1 |
T |
A |
13: 23,643,483 (GRCm39) |
D322V |
probably damaging |
Het |
| Chsy3 |
T |
A |
18: 59,542,357 (GRCm39) |
D498E |
possibly damaging |
Het |
| Ddx24 |
T |
C |
12: 103,390,347 (GRCm39) |
T215A |
probably benign |
Het |
| Dhx57 |
A |
T |
17: 80,580,476 (GRCm39) |
V492E |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,359,234 (GRCm39) |
R3523Q |
probably benign |
Het |
| Dock3 |
T |
A |
9: 106,841,916 (GRCm39) |
D971V |
possibly damaging |
Het |
| Ercc8 |
T |
C |
13: 108,323,816 (GRCm39) |
|
probably null |
Het |
| Erich5 |
T |
A |
15: 34,471,095 (GRCm39) |
L108Q |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,029,230 (GRCm39) |
Y1743F |
probably damaging |
Het |
| Gale |
T |
C |
4: 135,694,503 (GRCm39) |
V243A |
probably damaging |
Het |
| Gspt1 |
T |
A |
16: 11,071,692 (GRCm39) |
Q57L |
probably benign |
Het |
| Gtf3a |
C |
A |
5: 146,888,085 (GRCm39) |
Q129K |
probably benign |
Het |
| Heyl |
T |
C |
4: 123,140,254 (GRCm39) |
V271A |
probably benign |
Het |
| Hsd17b4 |
T |
C |
18: 50,261,437 (GRCm39) |
F7L |
probably damaging |
Het |
| Hspa12a |
T |
C |
19: 58,810,594 (GRCm39) |
T150A |
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,274,699 (GRCm39) |
D790E |
probably damaging |
Het |
| Igkv4-69 |
T |
A |
6: 69,260,917 (GRCm39) |
Y70F |
probably damaging |
Het |
| Il1rap |
T |
C |
16: 26,530,878 (GRCm39) |
Y405H |
probably damaging |
Het |
| Insyn2a |
A |
C |
7: 134,520,374 (GRCm39) |
I52S |
probably damaging |
Het |
| Irf2bpl |
G |
T |
12: 86,930,127 (GRCm39) |
P182Q |
probably benign |
Het |
| Itm2b |
C |
A |
14: 73,605,829 (GRCm39) |
|
probably benign |
Het |
| Kcnc2 |
T |
C |
10: 112,294,414 (GRCm39) |
V106A |
possibly damaging |
Het |
| Lca5 |
T |
A |
9: 83,280,693 (GRCm39) |
Y369F |
probably benign |
Het |
| Mgat5 |
T |
A |
1: 127,373,999 (GRCm39) |
D466E |
probably damaging |
Het |
| Mier3 |
C |
T |
13: 111,851,302 (GRCm39) |
P428L |
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,152,418 (GRCm39) |
Y167H |
unknown |
Het |
| Neu2 |
A |
G |
1: 87,524,297 (GRCm39) |
E94G |
probably benign |
Het |
| Nlrp9a |
A |
T |
7: 26,256,672 (GRCm39) |
K97* |
probably null |
Het |
| Npdc1 |
A |
G |
2: 25,299,120 (GRCm39) |
M306V |
probably damaging |
Het |
| Odf2l |
A |
T |
3: 144,832,827 (GRCm39) |
N95I |
probably benign |
Het |
| Or10j3 |
A |
G |
1: 173,031,633 (GRCm39) |
K237E |
probably damaging |
Het |
| Or13d1 |
G |
T |
4: 52,970,665 (GRCm39) |
V15L |
probably benign |
Het |
| Or5t16 |
A |
G |
2: 86,819,385 (GRCm39) |
V45A |
probably benign |
Het |
| Or7g21 |
A |
G |
9: 19,033,037 (GRCm39) |
Y259C |
possibly damaging |
Het |
| P2ry12 |
A |
G |
3: 59,125,127 (GRCm39) |
F183L |
probably benign |
Het |
| Proser3 |
A |
G |
7: 30,239,749 (GRCm39) |
F452L |
possibly damaging |
Het |
| Ptgfrn |
G |
T |
3: 100,987,511 (GRCm39) |
Y117* |
probably null |
Het |
| Rab3gap2 |
G |
T |
1: 184,980,250 (GRCm39) |
V360F |
probably benign |
Het |
| Rp1l1 |
A |
T |
14: 64,266,475 (GRCm39) |
D687V |
possibly damaging |
Het |
| Rxfp2 |
T |
G |
5: 149,966,572 (GRCm39) |
N103K |
probably benign |
Het |
| Scfd2 |
T |
A |
5: 74,558,326 (GRCm39) |
Q517L |
possibly damaging |
Het |
| Scnn1b |
G |
A |
7: 121,517,109 (GRCm39) |
A582T |
probably damaging |
Het |
| Serpinb6e |
T |
C |
13: 34,021,818 (GRCm39) |
E170G |
probably damaging |
Het |
| Serpinb8 |
T |
A |
1: 107,533,527 (GRCm39) |
V194E |
probably damaging |
Het |
| Sgcz |
T |
A |
8: 38,006,833 (GRCm39) |
H191L |
possibly damaging |
Het |
| Sirt1 |
A |
T |
10: 63,159,775 (GRCm39) |
L435Q |
probably damaging |
Het |
| Sorcs1 |
G |
A |
19: 50,301,420 (GRCm39) |
P315S |
probably damaging |
Het |
| Spdef |
T |
A |
17: 27,939,134 (GRCm39) |
S71C |
possibly damaging |
Het |
| Spta1 |
T |
A |
1: 174,025,317 (GRCm39) |
H727Q |
probably damaging |
Het |
| Srsf1 |
C |
T |
11: 87,940,084 (GRCm39) |
Q199* |
probably null |
Het |
| Stard9 |
A |
T |
2: 120,526,623 (GRCm39) |
D960V |
probably benign |
Het |
| Tcp10c |
A |
T |
17: 13,576,166 (GRCm39) |
I49F |
possibly damaging |
Het |
| Tgm2 |
T |
C |
2: 157,971,315 (GRCm39) |
N308S |
possibly damaging |
Het |
| Tiam2 |
A |
G |
17: 3,498,660 (GRCm39) |
D812G |
probably benign |
Het |
| Tph1 |
A |
T |
7: 46,311,541 (GRCm39) |
V67D |
possibly damaging |
Het |
| Trps1 |
C |
T |
15: 50,685,793 (GRCm39) |
R794H |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,683,505 (GRCm39) |
A906T |
|
Het |
| Vmn1r124 |
G |
A |
7: 20,994,184 (GRCm39) |
P120L |
probably benign |
Het |
| Vmn2r92 |
A |
T |
17: 18,387,005 (GRCm39) |
T115S |
probably benign |
Het |
| Wdr11 |
A |
G |
7: 129,208,376 (GRCm39) |
D377G |
probably damaging |
Het |
| Wdr55 |
G |
T |
18: 36,895,989 (GRCm39) |
A251S |
possibly damaging |
Het |
| Zbtb7b |
C |
T |
3: 89,288,209 (GRCm39) |
R203H |
probably benign |
Het |
| Zfp109 |
A |
T |
7: 23,929,231 (GRCm39) |
H67Q |
probably benign |
Het |
| Zfp462 |
G |
A |
4: 55,051,271 (GRCm39) |
C2248Y |
probably damaging |
Het |
| Zyg11b |
T |
C |
4: 108,102,119 (GRCm39) |
H534R |
possibly damaging |
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 |
|
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'- CGGTGAGAACCTTGTGAAGAATTC -3'
(R):5'- TCAGACGTTAACTCTGCATGG -3'
Sequencing Primer
(F):5'- GAGAACCTTGTGAAGAATTCTGTGCC -3'
(R):5'- ATGGCAGGTGCGCTTCC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation