Incidental Mutation 'R8669:Krt87'
ID |
661074 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt87
|
Ensembl Gene |
ENSMUSG00000047641 |
Gene Name |
keratin 87 |
Synonyms |
Krt2-25, Krt83 |
MMRRC Submission |
068524-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R8669 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
101329371-101336685 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 101385777 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 273
(V273L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023718
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023718]
|
AlphaFold |
Q6IMF0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023718
AA Change: V273L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000023718 Gene: ENSMUSG00000067613 AA Change: V273L
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 |
98% (53/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447C04Rik |
A |
T |
12: 72,949,234 (GRCm39) |
S305T |
probably benign |
Het |
Ankrd42 |
A |
G |
7: 92,268,881 (GRCm39) |
V154A |
possibly damaging |
Het |
Apc2 |
C |
T |
10: 80,149,491 (GRCm39) |
T1515I |
probably damaging |
Het |
Blzf1 |
T |
A |
1: 164,130,113 (GRCm39) |
N80Y |
possibly damaging |
Het |
Cacna2d1 |
T |
C |
5: 16,140,013 (GRCm39) |
M1T |
probably null |
Het |
Ccdc125 |
T |
C |
13: 100,832,683 (GRCm39) |
L420P |
probably damaging |
Het |
Ccdc162 |
T |
C |
10: 41,428,352 (GRCm39) |
T1976A |
probably benign |
Het |
Cdc20b |
C |
T |
13: 113,208,460 (GRCm39) |
P219S |
possibly damaging |
Het |
Cep89 |
A |
G |
7: 35,128,602 (GRCm39) |
D585G |
probably benign |
Het |
Crnn |
A |
T |
3: 93,056,296 (GRCm39) |
R361* |
probably null |
Het |
Defb5 |
A |
G |
8: 19,300,761 (GRCm39) |
I38V |
probably benign |
Het |
Defb8 |
A |
G |
8: 19,495,973 (GRCm39) |
V29A |
probably benign |
Het |
Dgkh |
A |
G |
14: 78,962,459 (GRCm39) |
V24A |
probably benign |
Het |
Dhrs13 |
G |
C |
11: 77,923,492 (GRCm39) |
R70P |
possibly damaging |
Het |
Dnah12 |
A |
T |
14: 26,552,582 (GRCm39) |
|
probably benign |
Het |
Dsg2 |
A |
G |
18: 20,723,132 (GRCm39) |
N386S |
probably damaging |
Het |
Dyrk1a |
G |
T |
16: 94,464,650 (GRCm39) |
R77L |
probably damaging |
Het |
Fbxw19 |
G |
T |
9: 109,313,482 (GRCm39) |
L239I |
probably benign |
Het |
Gal3st2b |
A |
T |
1: 93,868,764 (GRCm39) |
I332L |
possibly damaging |
Het |
Gcnt1 |
T |
G |
19: 17,307,143 (GRCm39) |
K194T |
probably benign |
Het |
Gm7298 |
T |
C |
6: 121,742,002 (GRCm39) |
W475R |
probably benign |
Het |
Gpatch1 |
C |
A |
7: 34,991,204 (GRCm39) |
W613C |
probably damaging |
Het |
Gulp1 |
T |
A |
1: 44,805,270 (GRCm39) |
S120T |
probably benign |
Het |
Ift122 |
C |
A |
6: 115,900,252 (GRCm39) |
Q946K |
probably damaging |
Het |
Itpr1 |
T |
A |
6: 108,370,928 (GRCm39) |
L1065H |
probably damaging |
Het |
Kcnq5 |
T |
C |
1: 21,476,050 (GRCm39) |
D579G |
probably damaging |
Het |
Klhl40 |
T |
A |
9: 121,607,088 (GRCm39) |
S83T |
probably benign |
Het |
Krt19 |
T |
C |
11: 100,031,993 (GRCm39) |
K320E |
probably damaging |
Het |
Lgals4 |
C |
T |
7: 28,540,921 (GRCm39) |
R282C |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 41,172,047 (GRCm39) |
|
probably null |
Het |
Lrrk1 |
G |
A |
7: 65,912,344 (GRCm39) |
L1739F |
probably benign |
Het |
Mthfr |
A |
G |
4: 148,135,934 (GRCm39) |
N336D |
probably benign |
Het |
Myo6 |
T |
G |
9: 80,173,531 (GRCm39) |
L557R |
unknown |
Het |
Naip2 |
T |
C |
13: 100,325,477 (GRCm39) |
S144G |
probably benign |
Het |
Nfatc1 |
T |
C |
18: 80,725,406 (GRCm39) |
K453E |
probably damaging |
Het |
Or52ab7 |
A |
T |
7: 102,978,281 (GRCm39) |
D196V |
probably benign |
Het |
Osm |
A |
T |
11: 4,189,665 (GRCm39) |
I150L |
probably benign |
Het |
Phtf1 |
T |
A |
3: 103,910,792 (GRCm39) |
N639K |
probably benign |
Het |
Prpf40b |
T |
A |
15: 99,201,228 (GRCm39) |
M1K |
probably null |
Het |
Rhbdl3 |
G |
A |
11: 80,244,339 (GRCm39) |
V349M |
probably damaging |
Het |
Senp7 |
T |
C |
16: 55,986,315 (GRCm39) |
S582P |
probably damaging |
Het |
Slc16a14 |
A |
G |
1: 84,900,605 (GRCm39) |
S127P |
probably benign |
Het |
Slc22a21 |
C |
T |
11: 53,870,643 (GRCm39) |
W14* |
probably null |
Het |
Slc6a18 |
T |
A |
13: 73,812,430 (GRCm39) |
E553D |
probably benign |
Het |
Speer4a1 |
T |
G |
5: 26,243,236 (GRCm39) |
N83T |
probably damaging |
Het |
Svep1 |
T |
A |
4: 58,070,119 (GRCm39) |
S2556C |
possibly damaging |
Het |
Tc2n |
T |
C |
12: 101,660,851 (GRCm39) |
N127S |
probably damaging |
Het |
Tcstv7b |
C |
A |
13: 120,702,338 (GRCm39) |
P45T |
probably benign |
Het |
Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
Thra |
T |
C |
11: 98,654,476 (GRCm39) |
V282A |
possibly damaging |
Het |
Tmem161b |
A |
T |
13: 84,420,288 (GRCm39) |
|
probably null |
Het |
Tmem218 |
C |
T |
9: 37,133,815 (GRCm39) |
A85V |
probably benign |
Het |
Txnip |
T |
C |
3: 96,466,252 (GRCm39) |
Y100H |
probably damaging |
Het |
Unc5c |
A |
G |
3: 141,509,704 (GRCm39) |
D728G |
possibly damaging |
Het |
Zfp462 |
T |
A |
4: 55,051,313 (GRCm39) |
I2262K |
probably damaging |
Het |
Zfp804a |
A |
T |
2: 82,088,106 (GRCm39) |
D645V |
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 |
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 |
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'- AAGATGCACAGTGGTCAGGC -3'
(R):5'- TTCCGTGACTGTGAAGTCC -3'
Sequencing Primer
(F):5'- GCCTAGAGCTGTGTGCAATC -3'
(R):5'- CTGTGTGGACCTGGGCAG -3'
|
Posted On |
2021-03-08 |