Incidental Mutation 'R6437:Krt87'
| ID |
518837 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt87
|
| Ensembl Gene |
ENSMUSG00000047641 |
| Gene Name |
keratin 87 |
| Synonyms |
Krt2-25, Krt83 |
| MMRRC Submission |
044575-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R6437 (G1)
|
| Quality Score |
173.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
101329371-101336685 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 101336273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 127
(D127N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081945]
|
| AlphaFold |
Q6IMF0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081945
AA Change: D127N
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000080613
Gene: ENSMUSG00000047641
AA Change: D127N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Keratin_2_head
|
3 |
107 |
1e-12 |
PFAM |
|
Filament
|
110 |
421 |
6.45e-148 |
SMART |
|
low complexity region
|
425 |
440 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg2a |
T |
A |
3: 37,582,347 (GRCm39) |
V794E |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,261,235 (GRCm39) |
V514I |
probably damaging |
Het |
| Atg16l1 |
T |
C |
1: 87,718,370 (GRCm39) |
L545P |
probably damaging |
Het |
| Ces3b |
T |
A |
8: 105,819,238 (GRCm39) |
D431E |
probably damaging |
Het |
| Cracr2a |
A |
G |
6: 127,608,794 (GRCm39) |
D291G |
probably damaging |
Het |
| Csmd2 |
T |
G |
4: 127,881,893 (GRCm39) |
C11G |
probably benign |
Het |
| Cstdc3 |
A |
G |
16: 36,132,999 (GRCm39) |
E92G |
probably damaging |
Het |
| Dido1 |
A |
G |
2: 180,316,806 (GRCm39) |
I127T |
probably damaging |
Het |
| Dpp8 |
A |
T |
9: 64,981,860 (GRCm39) |
Y714F |
probably benign |
Het |
| Efcab5 |
G |
A |
11: 77,028,728 (GRCm39) |
A201V |
probably benign |
Het |
| Eif3h |
C |
T |
15: 51,662,660 (GRCm39) |
V129I |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fars2 |
G |
A |
13: 36,388,846 (GRCm39) |
V112I |
probably benign |
Het |
| Fbn2 |
T |
G |
18: 58,246,435 (GRCm39) |
D489A |
probably damaging |
Het |
| Frmd4b |
G |
T |
6: 97,273,228 (GRCm39) |
S675R |
probably damaging |
Het |
| Fsip2 |
C |
T |
2: 82,813,836 (GRCm39) |
S3385F |
possibly damaging |
Het |
| Gtpbp10 |
A |
G |
5: 5,607,406 (GRCm39) |
Y12H |
probably damaging |
Het |
| Kcng3 |
A |
G |
17: 83,938,558 (GRCm39) |
S164P |
probably damaging |
Het |
| Kifap3 |
T |
A |
1: 163,685,095 (GRCm39) |
L483Q |
probably damaging |
Het |
| Klk10 |
A |
G |
7: 43,432,241 (GRCm39) |
H58R |
probably benign |
Het |
| Kntc1 |
T |
G |
5: 123,907,754 (GRCm39) |
W452G |
probably damaging |
Het |
| Ldaf1 |
A |
T |
7: 119,715,584 (GRCm39) |
|
probably null |
Het |
| Lipm |
A |
G |
19: 34,098,657 (GRCm39) |
Y377C |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,240,669 (GRCm39) |
R1453H |
probably damaging |
Het |
| Nat1 |
T |
C |
8: 67,944,388 (GRCm39) |
F255L |
possibly damaging |
Het |
| Neb |
C |
T |
2: 52,147,569 (GRCm39) |
|
probably null |
Het |
| Nek5 |
T |
A |
8: 22,575,476 (GRCm39) |
D491V |
possibly damaging |
Het |
| Nynrin |
T |
C |
14: 56,109,227 (GRCm39) |
S1445P |
probably benign |
Het |
| Oog2 |
T |
A |
4: 143,921,678 (GRCm39) |
|
probably null |
Het |
| Or2j6 |
C |
T |
7: 139,980,434 (GRCm39) |
C175Y |
probably damaging |
Het |
| Pafah1b1 |
T |
C |
11: 74,568,557 (GRCm39) |
T391A |
probably benign |
Het |
| Pcdhb7 |
T |
C |
18: 37,475,743 (GRCm39) |
L293P |
probably damaging |
Het |
| Plce1 |
A |
T |
19: 38,513,576 (GRCm39) |
T292S |
probably benign |
Het |
| Pold1 |
G |
A |
7: 44,188,202 (GRCm39) |
R559C |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,525,768 (GRCm39) |
Q986R |
possibly damaging |
Het |
| Rrp9 |
G |
T |
9: 106,360,150 (GRCm39) |
R186L |
probably benign |
Het |
| Samm50 |
T |
A |
15: 84,088,298 (GRCm39) |
|
probably null |
Het |
| Scoc |
T |
C |
8: 84,164,616 (GRCm39) |
D7G |
probably benign |
Het |
| Smad9 |
C |
T |
3: 54,693,505 (GRCm39) |
P145S |
probably benign |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Snrk |
A |
G |
9: 121,995,879 (GRCm39) |
R553G |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,127,722 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
A |
12: 76,037,188 (GRCm39) |
V3789E |
possibly damaging |
Het |
| Thsd7b |
T |
C |
1: 129,744,419 (GRCm39) |
I769T |
probably damaging |
Het |
| Ttc7 |
A |
G |
17: 87,637,534 (GRCm39) |
K430E |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,124,525 (GRCm39) |
|
probably null |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vmn2r37 |
G |
T |
7: 9,220,850 (GRCm39) |
Q338K |
probably damaging |
Het |
| Yod1 |
T |
C |
1: 130,646,885 (GRCm39) |
V254A |
probably damaging |
Het |
| Zfpm2 |
T |
C |
15: 40,962,793 (GRCm39) |
S152P |
probably benign |
Het |
| Zmym2 |
T |
A |
14: 57,140,461 (GRCm39) |
L100H |
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 |
|
|
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 |
|
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'- GTTAAGACCAATGTCCTTTCTCAG -3'
(R):5'- ATCTCTGCAGCTCCCTACAG -3'
Sequencing Primer
(F):5'- CTCAGTCTTAAGTACTGGAGCAGTC -3'
(R):5'- TCCTGTGGACGCAGCTTC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation