Incidental Mutation 'R2173:Krt87'
ID |
237649 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt87
|
Ensembl Gene |
ENSMUSG00000047641 |
Gene Name |
keratin 87 |
Synonyms |
Krt2-25, Krt83 |
MMRRC Submission |
040175-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R2173 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
101329371-101336685 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 101385818 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 259
(V259A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023718
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023718]
|
AlphaFold |
Q6IMF0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023718
AA Change: V259A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000023718 Gene: ENSMUSG00000067613 AA Change: V259A
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 |
0.4569 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
97% (66/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk1 |
T |
A |
3: 127,477,239 (GRCm39) |
H273L |
probably damaging |
Het |
Alpk3 |
A |
G |
7: 80,726,648 (GRCm39) |
Y111C |
probably damaging |
Het |
Anapc2 |
T |
G |
2: 25,163,288 (GRCm39) |
V175G |
probably benign |
Het |
Arhgap30 |
T |
C |
1: 171,235,335 (GRCm39) |
S570P |
probably damaging |
Het |
AU040320 |
T |
C |
4: 126,686,069 (GRCm39) |
L215P |
probably benign |
Het |
Ccdc59 |
A |
T |
10: 105,677,388 (GRCm39) |
K9M |
possibly damaging |
Het |
Ccdc65 |
A |
G |
15: 98,618,914 (GRCm39) |
N298D |
probably benign |
Het |
Cfap70 |
T |
A |
14: 20,458,630 (GRCm39) |
N727Y |
probably benign |
Het |
Clcn7 |
A |
G |
17: 25,364,583 (GRCm39) |
H63R |
probably benign |
Het |
Corin |
A |
T |
5: 72,661,422 (GRCm39) |
C24S |
probably benign |
Het |
Cyp1a2 |
A |
G |
9: 57,584,798 (GRCm39) |
W419R |
probably damaging |
Het |
Dlgap4 |
C |
A |
2: 156,604,732 (GRCm39) |
A256D |
probably damaging |
Het |
Eif4enif1 |
A |
G |
11: 3,192,367 (GRCm39) |
|
probably null |
Het |
Eri2 |
A |
G |
7: 119,385,766 (GRCm39) |
V245A |
possibly damaging |
Het |
Erich6b |
T |
C |
14: 75,896,332 (GRCm39) |
F73L |
probably benign |
Het |
Fam110a |
A |
G |
2: 151,812,429 (GRCm39) |
C114R |
probably damaging |
Het |
Fam149a |
T |
C |
8: 45,806,991 (GRCm39) |
D288G |
probably damaging |
Het |
Fam171a1 |
T |
A |
2: 3,226,656 (GRCm39) |
Y596* |
probably null |
Het |
Fsd1 |
A |
G |
17: 56,298,223 (GRCm39) |
T183A |
possibly damaging |
Het |
Fut10 |
T |
A |
8: 31,726,159 (GRCm39) |
Y305N |
probably damaging |
Het |
Ganab |
A |
T |
19: 8,879,624 (GRCm39) |
|
probably benign |
Het |
Gm9922 |
G |
T |
14: 101,967,012 (GRCm39) |
|
probably benign |
Het |
Gp9 |
A |
G |
6: 87,756,035 (GRCm39) |
T17A |
probably benign |
Het |
Gxylt2 |
T |
C |
6: 100,775,115 (GRCm39) |
Y345H |
probably damaging |
Het |
Herc2 |
A |
G |
7: 55,835,699 (GRCm39) |
H3269R |
probably benign |
Het |
Hpx |
A |
T |
7: 105,241,290 (GRCm39) |
S374T |
probably benign |
Het |
Hspa5 |
T |
C |
2: 34,664,674 (GRCm39) |
V376A |
probably damaging |
Het |
Hyi |
T |
C |
4: 118,219,381 (GRCm39) |
|
probably benign |
Het |
Impdh2 |
G |
A |
9: 108,442,593 (GRCm39) |
|
probably null |
Het |
Kremen2 |
A |
C |
17: 23,961,770 (GRCm39) |
W246G |
probably damaging |
Het |
L3mbtl4 |
A |
T |
17: 68,894,188 (GRCm39) |
H398L |
probably damaging |
Het |
Lama5 |
C |
A |
2: 179,838,035 (GRCm39) |
V894L |
probably benign |
Het |
Maml2 |
A |
G |
9: 13,532,912 (GRCm39) |
|
probably benign |
Het |
Nup153 |
A |
T |
13: 46,855,076 (GRCm39) |
|
probably benign |
Het |
Or10g6 |
T |
G |
9: 39,934,550 (GRCm39) |
I287S |
probably damaging |
Het |
Or2y15 |
G |
T |
11: 49,350,967 (GRCm39) |
V154L |
probably benign |
Het |
Or5k14 |
A |
G |
16: 58,692,982 (GRCm39) |
F177S |
probably damaging |
Het |
Or8b3b |
T |
C |
9: 38,584,240 (GRCm39) |
I180V |
probably benign |
Het |
Or9r7 |
G |
A |
10: 129,962,372 (GRCm39) |
P185S |
probably benign |
Het |
Otof |
C |
T |
5: 30,543,718 (GRCm39) |
R582H |
probably damaging |
Het |
Otud4 |
T |
C |
8: 80,395,093 (GRCm39) |
S543P |
probably damaging |
Het |
Pde6a |
A |
G |
18: 61,387,453 (GRCm39) |
D448G |
probably damaging |
Het |
Phgdh |
A |
G |
3: 98,222,427 (GRCm39) |
V388A |
probably benign |
Het |
Plin3 |
G |
T |
17: 56,586,891 (GRCm39) |
D385E |
possibly damaging |
Het |
Polg |
G |
T |
7: 79,105,341 (GRCm39) |
D734E |
probably damaging |
Het |
Pomt1 |
T |
C |
2: 32,140,912 (GRCm39) |
Y515H |
probably damaging |
Het |
Prr35 |
A |
C |
17: 26,167,461 (GRCm39) |
H25Q |
probably damaging |
Het |
Pwwp2a |
G |
A |
11: 43,573,313 (GRCm39) |
A132T |
probably benign |
Het |
Rbm6 |
A |
T |
9: 107,729,390 (GRCm39) |
F419L |
possibly damaging |
Het |
Rfx5 |
A |
G |
3: 94,864,027 (GRCm39) |
|
probably null |
Het |
Rnf135 |
G |
A |
11: 80,080,066 (GRCm39) |
S119N |
probably benign |
Het |
Scfd1 |
T |
A |
12: 51,433,862 (GRCm39) |
D51E |
probably benign |
Het |
Smox |
A |
T |
2: 131,353,944 (GRCm39) |
E5D |
possibly damaging |
Het |
Srpk2 |
T |
C |
5: 23,723,613 (GRCm39) |
|
probably null |
Het |
Syne2 |
T |
A |
12: 76,147,763 (GRCm39) |
|
probably benign |
Het |
Tcf20 |
A |
G |
15: 82,738,893 (GRCm39) |
S853P |
possibly damaging |
Het |
Tmem131l |
A |
G |
3: 83,833,452 (GRCm39) |
F804L |
probably damaging |
Het |
Ttll8 |
A |
G |
15: 88,798,800 (GRCm39) |
L645P |
probably damaging |
Het |
Ubr3 |
T |
A |
2: 69,727,743 (GRCm39) |
H35Q |
probably benign |
Het |
Uck1 |
GCCAACACC |
GCC |
2: 32,146,088 (GRCm39) |
|
probably benign |
Het |
Vmn2r70 |
A |
T |
7: 85,214,290 (GRCm39) |
H287Q |
probably benign |
Het |
Vps26a |
A |
T |
10: 62,304,171 (GRCm39) |
I150N |
probably damaging |
Het |
Zfp605 |
G |
A |
5: 110,275,323 (GRCm39) |
R147H |
probably benign |
Het |
Zfyve16 |
A |
G |
13: 92,631,596 (GRCm39) |
M1333T |
probably 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 |
|
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 |
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'- TAGATCCTGGAGTCCTTCCCAC -3'
(R):5'- CCGACTTCCTGAGGAGAATG -3'
Sequencing Primer
(F):5'- TCCCACTGTCTCATCTAAGGACAG -3'
(R):5'- GGAAGTCCAACAAGTAGTCTTTAGAC -3'
|
Posted On |
2014-10-02 |