Incidental Mutation 'R7186:Krt87'
| ID |
568542 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt87
|
| Ensembl Gene |
ENSMUSG00000047641 |
| Gene Name |
keratin 87 |
| Synonyms |
Krt2-25, Krt83 |
| MMRRC Submission |
045271-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R7186 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
101329371-101336685 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 101385083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023718]
|
| AlphaFold |
Q6IMF0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023718
|
| SMART Domains |
Protein: ENSMUSP00000023718
Gene: ENSMUSG00000067613
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
T |
A |
11: 48,910,100 (GRCm39) |
I778F |
possibly damaging |
Het |
| Adam39 |
A |
T |
8: 41,279,349 (GRCm39) |
N580I |
probably damaging |
Het |
| Adamts20 |
A |
G |
15: 94,220,689 (GRCm39) |
S1415P |
possibly damaging |
Het |
| Adcy2 |
A |
G |
13: 68,816,758 (GRCm39) |
Y743H |
probably damaging |
Het |
| Aldh1a3 |
A |
G |
7: 66,055,831 (GRCm39) |
V320A |
probably damaging |
Het |
| Arid1a |
TGCCGCCGCCGCCGCCGCCGCCG |
TGCCGCCGCCGCCGCCGCCG |
4: 133,480,544 (GRCm39) |
|
|
Het |
| Art5 |
G |
T |
7: 101,746,536 (GRCm39) |
R268S |
probably benign |
Het |
| Bfar |
T |
C |
16: 13,510,371 (GRCm39) |
V238A |
probably benign |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cdc23 |
G |
A |
18: 34,770,175 (GRCm39) |
T408I |
probably damaging |
Het |
| Cdh24 |
G |
C |
14: 54,870,949 (GRCm39) |
P522A |
probably benign |
Het |
| Clk4 |
T |
C |
11: 51,159,607 (GRCm39) |
V61A |
probably benign |
Het |
| Clrn2 |
T |
C |
5: 45,611,115 (GRCm39) |
|
probably benign |
Het |
| Cyp2j8 |
T |
C |
4: 96,363,787 (GRCm39) |
D292G |
probably benign |
Het |
| Deaf1 |
T |
C |
7: 140,907,383 (GRCm39) |
E34G |
probably benign |
Het |
| Elovl7 |
A |
G |
13: 108,408,382 (GRCm39) |
E127G |
probably damaging |
Het |
| Flg |
A |
T |
3: 93,187,252 (GRCm39) |
R235* |
probably null |
Het |
| Gbp3 |
G |
A |
3: 142,269,923 (GRCm39) |
V77M |
probably damaging |
Het |
| Gda |
A |
T |
19: 21,372,569 (GRCm39) |
F450I |
probably benign |
Het |
| Gipc1 |
A |
G |
8: 84,390,762 (GRCm39) |
E289G |
possibly damaging |
Het |
| Gm4924 |
T |
C |
10: 82,214,778 (GRCm39) |
Y859H |
unknown |
Het |
| Gpatch1 |
A |
T |
7: 34,994,738 (GRCm39) |
D509E |
possibly damaging |
Het |
| Gpbp1 |
A |
G |
13: 111,577,233 (GRCm39) |
V219A |
possibly damaging |
Het |
| Gpr107 |
A |
T |
2: 31,042,371 (GRCm39) |
M1L |
possibly damaging |
Het |
| Heg1 |
T |
C |
16: 33,552,034 (GRCm39) |
F1003L |
probably damaging |
Het |
| Hivep1 |
A |
G |
13: 42,309,814 (GRCm39) |
T685A |
probably benign |
Het |
| Hpse |
T |
A |
5: 100,843,395 (GRCm39) |
D259V |
probably damaging |
Het |
| Ido2 |
A |
T |
8: 25,040,826 (GRCm39) |
|
probably null |
Het |
| Ighv14-1 |
T |
C |
12: 113,895,649 (GRCm39) |
D92G |
probably damaging |
Het |
| Lsp1 |
T |
C |
7: 142,044,089 (GRCm39) |
V278A |
probably damaging |
Het |
| Lurap1l |
C |
A |
4: 80,829,747 (GRCm39) |
S52R |
possibly damaging |
Het |
| Luzp2 |
A |
G |
7: 54,485,577 (GRCm39) |
|
probably benign |
Het |
| Micall1 |
A |
G |
15: 79,009,575 (GRCm39) |
E399G |
unknown |
Het |
| Ncapd2 |
A |
G |
6: 125,163,119 (GRCm39) |
S130P |
possibly damaging |
Het |
| Nrg2 |
A |
G |
18: 36,178,973 (GRCm39) |
V321A |
probably benign |
Het |
| Nuf2 |
T |
C |
1: 169,352,954 (GRCm39) |
H17R |
probably damaging |
Het |
| Numb |
A |
G |
12: 83,842,920 (GRCm39) |
W419R |
probably damaging |
Het |
| Or4d2b |
G |
A |
11: 87,780,591 (GRCm39) |
L44F |
possibly damaging |
Het |
| Or4f62 |
T |
A |
2: 111,986,507 (GRCm39) |
D70E |
probably damaging |
Het |
| Or56a3b |
A |
G |
7: 104,771,473 (GRCm39) |
R270G |
probably benign |
Het |
| Pde6a |
T |
A |
18: 61,353,678 (GRCm39) |
M1K |
probably null |
Het |
| Pknox1 |
C |
T |
17: 31,822,172 (GRCm39) |
A313V |
probably damaging |
Het |
| Ppp2ca |
T |
A |
11: 52,010,080 (GRCm39) |
N229K |
possibly damaging |
Het |
| Ptgdr |
A |
T |
14: 45,096,401 (GRCm39) |
C104S |
probably damaging |
Het |
| Ralgapa2 |
C |
A |
2: 146,230,406 (GRCm39) |
|
probably null |
Het |
| Rfx5 |
G |
T |
3: 94,865,659 (GRCm39) |
K319N |
probably benign |
Het |
| Rnase10 |
A |
T |
14: 51,247,242 (GRCm39) |
T207S |
probably damaging |
Het |
| Rreb1 |
A |
G |
13: 38,125,608 (GRCm39) |
T1305A |
probably benign |
Het |
| Rrp12 |
C |
A |
19: 41,859,744 (GRCm39) |
|
probably null |
Het |
| Rubcnl |
A |
C |
14: 75,269,453 (GRCm39) |
D37A |
possibly damaging |
Het |
| Saxo5 |
T |
C |
8: 3,529,049 (GRCm39) |
F208S |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,364,567 (GRCm39) |
Y802C |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,330,715 (GRCm39) |
Y433* |
probably null |
Het |
| Sgk3 |
T |
A |
1: 9,956,227 (GRCm39) |
V331D |
probably benign |
Het |
| Sirt7 |
C |
T |
11: 120,511,311 (GRCm39) |
R280H |
probably benign |
Het |
| Snx13 |
G |
C |
12: 35,142,912 (GRCm39) |
R252S |
probably damaging |
Het |
| Stk32b |
G |
T |
5: 37,624,125 (GRCm39) |
D207E |
probably damaging |
Het |
| Sult2a7 |
C |
T |
7: 14,203,978 (GRCm39) |
V262I |
not run |
Het |
| Tcstv7b |
C |
T |
13: 120,702,587 (GRCm39) |
L128F |
probably damaging |
Het |
| Tent5b |
T |
A |
4: 133,213,518 (GRCm39) |
F130I |
probably damaging |
Het |
| Tmem33 |
G |
C |
5: 67,421,130 (GRCm39) |
V35L |
possibly damaging |
Het |
| Uba1y |
A |
G |
Y: 825,537 (GRCm39) |
I300V |
probably benign |
Het |
| Usp32 |
A |
T |
11: 84,942,060 (GRCm39) |
V344E |
probably benign |
Het |
| Usp50 |
C |
T |
2: 126,625,218 (GRCm39) |
|
probably benign |
Het |
| Vmn1r238 |
A |
C |
18: 3,122,661 (GRCm39) |
F251C |
probably damaging |
Het |
| Vmn2r74 |
A |
T |
7: 85,601,150 (GRCm39) |
Y829* |
probably null |
Het |
| Wars1 |
A |
G |
12: 108,846,982 (GRCm39) |
F141L |
probably damaging |
Het |
| Zfp879 |
A |
G |
11: 50,724,621 (GRCm39) |
V145A |
probably benign |
Het |
| Zfp934 |
A |
T |
13: 62,640,204 (GRCm39) |
V56D |
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 |
|
|
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 |
|
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'- CCAGCTTGGAGTTCATCACCTC -3'
(R):5'- GTCTACTCAGTGCCACACAG -3'
Sequencing Primer
(F):5'- TCCTGGTACTCCTTGAGCAGG -3'
(R):5'- ACAGCCAGCATGTGTCCTG -3'
|
| Posted On |
2019-08-19 |
Incidental Mutation