Incidental Mutation 'R2568:Krt87'
| ID |
254659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt87
|
| Ensembl Gene |
ENSMUSG00000047641 |
| Gene Name |
keratin 87 |
| Synonyms |
Krt2-25, Krt83 |
| MMRRC Submission |
040427-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R2568 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
101329371-101336685 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 101385708 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 296
(R296S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023718]
|
| AlphaFold |
Q6IMF0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023718
AA Change: R296S
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000023718
Gene: ENSMUSG00000067613
AA Change: R296S
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730071L15Rik |
A |
T |
11: 6,150,161 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,283,310 (GRCm39) |
N3244I |
probably benign |
Het |
| Adgrf5 |
A |
G |
17: 43,748,562 (GRCm39) |
T219A |
probably damaging |
Het |
| Adgrg5 |
A |
T |
8: 95,660,649 (GRCm39) |
N92I |
probably damaging |
Het |
| Agt |
A |
C |
8: 125,283,694 (GRCm39) |
V475G |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 52,934,061 (GRCm39) |
K518E |
possibly damaging |
Het |
| Apoh |
T |
G |
11: 108,295,697 (GRCm39) |
D133E |
probably benign |
Het |
| Axdnd1 |
T |
A |
1: 156,220,319 (GRCm39) |
M234L |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 29,804,468 (GRCm39) |
I1335T |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cfap206 |
T |
A |
4: 34,711,566 (GRCm39) |
K444* |
probably null |
Het |
| Clasp2 |
A |
G |
9: 113,707,832 (GRCm39) |
I614M |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,940,275 (GRCm39) |
D1218E |
possibly damaging |
Het |
| Cplane1 |
T |
C |
15: 8,230,753 (GRCm39) |
V1010A |
possibly damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| D130043K22Rik |
C |
T |
13: 25,067,874 (GRCm39) |
T870M |
probably damaging |
Het |
| Dagla |
C |
A |
19: 10,225,516 (GRCm39) |
A883S |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 109,926,263 (GRCm39) |
V87A |
probably damaging |
Het |
| Dtx1 |
C |
A |
5: 120,848,249 (GRCm39) |
V44L |
possibly damaging |
Het |
| Ecm2 |
T |
A |
13: 49,683,605 (GRCm39) |
S528T |
possibly damaging |
Het |
| Eeig2 |
T |
A |
3: 108,886,164 (GRCm39) |
N356I |
probably benign |
Het |
| Egfem1 |
A |
T |
3: 29,637,080 (GRCm39) |
N172I |
probably damaging |
Het |
| Fam13a |
T |
G |
6: 58,912,594 (GRCm39) |
R686S |
probably damaging |
Het |
| Fam243 |
A |
G |
16: 92,118,207 (GRCm39) |
L27P |
probably damaging |
Het |
| Fmo1 |
T |
A |
1: 162,663,828 (GRCm39) |
I234L |
probably benign |
Het |
| Foxj2 |
C |
T |
6: 122,805,331 (GRCm39) |
R68W |
probably damaging |
Het |
| Foxo6 |
A |
T |
4: 120,125,961 (GRCm39) |
M278K |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,820,775 (GRCm39) |
S5503G |
probably benign |
Het |
| Gdf5 |
C |
G |
2: 155,784,010 (GRCm39) |
R100G |
probably benign |
Het |
| Il1b |
A |
T |
2: 129,209,242 (GRCm39) |
D129E |
probably damaging |
Het |
| Klhl29 |
A |
G |
12: 5,141,350 (GRCm39) |
S545P |
probably damaging |
Het |
| Llgl1 |
T |
G |
11: 60,599,638 (GRCm39) |
S509R |
probably damaging |
Het |
| Lmod1 |
A |
T |
1: 135,291,702 (GRCm39) |
K186* |
probably null |
Het |
| Lrpprc |
C |
T |
17: 85,034,077 (GRCm39) |
A973T |
probably damaging |
Het |
| Marco |
T |
C |
1: 120,422,514 (GRCm39) |
H49R |
possibly damaging |
Het |
| Mylk4 |
T |
C |
13: 32,906,001 (GRCm39) |
N394S |
probably null |
Het |
| Myo5a |
A |
G |
9: 75,030,322 (GRCm39) |
Y147C |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,059,179 (GRCm39) |
V469A |
probably damaging |
Het |
| Myot |
A |
G |
18: 44,470,283 (GRCm39) |
T87A |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,247,312 (GRCm39) |
H2154R |
probably damaging |
Het |
| Nek10 |
A |
G |
14: 14,999,112 (GRCm38) |
E1037G |
possibly damaging |
Het |
| Or1j13 |
T |
C |
2: 36,369,986 (GRCm39) |
D52G |
probably damaging |
Het |
| Or52e4 |
A |
G |
7: 104,705,878 (GRCm39) |
T142A |
probably benign |
Het |
| Or5k17 |
A |
G |
16: 58,746,286 (GRCm39) |
V216A |
probably benign |
Het |
| Pitrm1 |
G |
T |
13: 6,625,128 (GRCm39) |
V869F |
probably benign |
Het |
| Plekhm3 |
CCTGCTGCTGCTGCTGCTGCTGCTGC |
CCTGCTGCTGCTGCTGCTGCTGC |
1: 64,976,940 (GRCm39) |
|
probably benign |
Het |
| Prdx1 |
T |
G |
4: 116,550,997 (GRCm39) |
I156S |
probably benign |
Het |
| Rbks |
T |
A |
5: 31,823,096 (GRCm39) |
T107S |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,506,219 (GRCm39) |
R3468W |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,103,813 (GRCm39) |
D1805N |
probably damaging |
Het |
| Sirpa |
T |
C |
2: 129,457,568 (GRCm39) |
V214A |
probably benign |
Het |
| Slc35c1 |
T |
C |
2: 92,289,225 (GRCm39) |
N94D |
probably benign |
Het |
| Sorbs2 |
A |
T |
8: 46,248,407 (GRCm39) |
K553* |
probably null |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Thg1l |
A |
G |
11: 45,842,392 (GRCm39) |
V142A |
probably benign |
Het |
| Tiparp |
T |
A |
3: 65,460,551 (GRCm39) |
Y513* |
probably null |
Het |
| Tmc6 |
A |
G |
11: 117,663,646 (GRCm39) |
V522A |
probably benign |
Het |
| Trim39 |
T |
A |
17: 36,580,056 (GRCm39) |
|
probably benign |
Het |
| Trrap |
G |
A |
5: 144,780,179 (GRCm39) |
|
probably null |
Het |
| Tulp3 |
C |
T |
6: 128,304,601 (GRCm39) |
V218I |
probably benign |
Het |
| Vmn1r38 |
T |
A |
6: 66,753,955 (GRCm39) |
I54F |
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,719,147 (GRCm39) |
Y833* |
probably null |
Het |
| Zfp810 |
A |
T |
9: 22,190,534 (GRCm39) |
S125T |
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 |
|
|
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'- GTGACATCAACCCAGTGAGC -3'
(R):5'- TCCGTGACTGTGAAGTCCTG -3'
Sequencing Primer
(F):5'- TCAACCCAGTGAGCACAATG -3'
(R):5'- GTTAGGCTGAGCTTTCAAGAAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation