Incidental Mutation 'R4366:Krt87'
| ID |
325774 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt87
|
| Ensembl Gene |
ENSMUSG00000047641 |
| Gene Name |
keratin 87 |
| Synonyms |
Krt2-25, Krt83 |
| MMRRC Submission |
041114-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R4366 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
101329371-101336685 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 101385395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 326
(M326L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023718]
|
| AlphaFold |
Q6IMF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023718
AA Change: M326L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023718
Gene: ENSMUSG00000067613
AA Change: M326L
| 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: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.7%
|
| Validation Efficiency |
95% (57/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf5 |
A |
C |
17: 43,752,860 (GRCm39) |
T396P |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,066,083 (GRCm39) |
I4318F |
possibly damaging |
Het |
| Apol7c |
T |
G |
15: 77,410,589 (GRCm39) |
D119A |
probably benign |
Het |
| App |
G |
T |
16: 84,853,321 (GRCm39) |
D252E |
unknown |
Het |
| C4a |
T |
A |
17: 35,033,885 (GRCm39) |
|
noncoding transcript |
Het |
| Cacna1b |
T |
C |
2: 24,592,632 (GRCm39) |
Y515C |
probably damaging |
Het |
| Cacna1f |
G |
T |
X: 7,476,213 (GRCm39) |
A123S |
probably damaging |
Het |
| Cldn6 |
G |
C |
17: 23,900,494 (GRCm39) |
A153P |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,228,464 (GRCm39) |
N2208S |
probably benign |
Het |
| Csnk1g1 |
A |
G |
9: 65,927,135 (GRCm39) |
T101A |
probably benign |
Het |
| Ddx46 |
T |
A |
13: 55,811,049 (GRCm39) |
D544E |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,011,084 (GRCm39) |
C1080* |
probably null |
Het |
| Dst |
T |
C |
1: 34,290,959 (GRCm39) |
S3335P |
probably damaging |
Het |
| Efnb3 |
T |
C |
11: 69,446,771 (GRCm39) |
K313R |
probably damaging |
Het |
| Elf2 |
G |
A |
3: 51,215,570 (GRCm39) |
Q47* |
probably null |
Het |
| Epc2 |
A |
G |
2: 49,437,566 (GRCm39) |
K657E |
possibly damaging |
Het |
| Ephx4 |
A |
G |
5: 107,551,679 (GRCm39) |
|
probably benign |
Het |
| Ereg |
T |
C |
5: 91,234,659 (GRCm39) |
I24T |
probably benign |
Het |
| Evc2 |
C |
A |
5: 37,496,013 (GRCm39) |
A41D |
possibly damaging |
Het |
| Fkbp15 |
A |
G |
4: 62,254,651 (GRCm39) |
V283A |
probably benign |
Het |
| Flrt3 |
T |
C |
2: 140,502,327 (GRCm39) |
T434A |
probably damaging |
Het |
| Gm572 |
A |
G |
4: 148,739,322 (GRCm39) |
D50G |
possibly damaging |
Het |
| Hecw1 |
C |
T |
13: 14,490,749 (GRCm39) |
D748N |
probably damaging |
Het |
| Hivep3 |
A |
C |
4: 119,953,286 (GRCm39) |
H534P |
possibly damaging |
Het |
| Hspa4l |
C |
A |
3: 40,721,241 (GRCm39) |
|
probably null |
Het |
| Ipo7 |
T |
C |
7: 109,628,919 (GRCm39) |
M63T |
possibly damaging |
Het |
| Ipo7 |
A |
T |
7: 109,647,423 (GRCm39) |
T614S |
possibly damaging |
Het |
| Mbd5 |
T |
A |
2: 49,162,978 (GRCm39) |
N261K |
probably damaging |
Het |
| Mcam |
T |
A |
9: 44,045,994 (GRCm39) |
L3Q |
probably damaging |
Het |
| Mcoln3 |
C |
A |
3: 145,846,247 (GRCm39) |
T519K |
possibly damaging |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Mrgprx1 |
C |
A |
7: 47,670,941 (GRCm39) |
A269S |
probably damaging |
Het |
| Mypn |
T |
C |
10: 63,028,487 (GRCm39) |
E192G |
probably benign |
Het |
| Nup205 |
C |
A |
6: 35,168,962 (GRCm39) |
P397Q |
probably benign |
Het |
| Obsl1 |
A |
C |
1: 75,464,693 (GRCm39) |
L1576R |
possibly damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,168,937 (GRCm39) |
S817P |
probably benign |
Het |
| Or6c210 |
A |
T |
10: 129,496,400 (GRCm39) |
M242L |
probably benign |
Het |
| Or8b12c |
A |
T |
9: 37,715,486 (GRCm39) |
H93L |
probably benign |
Het |
| Pcdhgb7 |
A |
G |
18: 37,887,125 (GRCm39) |
Y765C |
possibly damaging |
Het |
| Pde7a |
A |
G |
3: 19,365,026 (GRCm39) |
|
probably null |
Het |
| Phip |
C |
T |
9: 82,782,922 (GRCm39) |
|
probably benign |
Het |
| Rhbdl2 |
T |
A |
4: 123,703,728 (GRCm39) |
M1K |
probably null |
Het |
| Ripor2 |
C |
T |
13: 24,905,694 (GRCm39) |
P947S |
probably benign |
Het |
| Sf3a3 |
A |
G |
4: 124,618,932 (GRCm39) |
T298A |
probably benign |
Het |
| Slc25a29 |
C |
T |
12: 108,797,097 (GRCm39) |
|
probably benign |
Het |
| Spinkl |
T |
G |
18: 44,307,650 (GRCm39) |
T4P |
possibly damaging |
Het |
| Stk33 |
G |
A |
7: 108,879,002 (GRCm39) |
S449L |
probably benign |
Het |
| Suz12 |
T |
A |
11: 79,892,988 (GRCm39) |
|
probably benign |
Het |
| Timp2 |
T |
A |
11: 118,201,497 (GRCm39) |
I124F |
probably damaging |
Het |
| Tlr1 |
C |
T |
5: 65,083,180 (GRCm39) |
D466N |
probably benign |
Het |
| Tmem200b |
A |
G |
4: 131,649,781 (GRCm39) |
I234V |
possibly damaging |
Het |
| Ubr1 |
C |
A |
2: 120,801,084 (GRCm39) |
|
probably benign |
Het |
| Usp33 |
C |
A |
3: 152,074,149 (GRCm39) |
Q332K |
probably benign |
Het |
| Zfr |
A |
G |
15: 12,156,416 (GRCm39) |
E634G |
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 |
|
|
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'- CAGCCTGAGTGAGCATGATC -3'
(R):5'- ATTGCACACAGCTCTAGGC -3'
Sequencing Primer
(F):5'- CATGATCAGGAAACCCAGCTGTG -3'
(R):5'- GCTCTAGGCTGAGGAGGC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation