Incidental Mutation 'R5008:Krt87'
| ID |
390313 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt87
|
| Ensembl Gene |
ENSMUSG00000047641 |
| Gene Name |
keratin 87 |
| Synonyms |
Krt2-25, Krt83 |
| MMRRC Submission |
042599-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R5008 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
101329371-101336685 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101389105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 76
(I76F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023718]
|
| AlphaFold |
Q6IMF0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023718
AA Change: I76F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023718
Gene: ENSMUSG00000067613
AA Change: I76F
| 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
|
| Meta Mutation Damage Score |
0.2892 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
97% (73/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
C |
G |
7: 27,278,192 (GRCm39) |
T242R |
probably damaging |
Het |
| 2310057N15Rik |
A |
G |
16: 88,570,663 (GRCm39) |
Y126H |
probably damaging |
Het |
| Catsperg1 |
A |
T |
7: 28,894,859 (GRCm39) |
Y579* |
probably null |
Het |
| Chchd5 |
A |
T |
2: 128,972,319 (GRCm39) |
|
probably null |
Het |
| Chd1l |
T |
C |
3: 97,491,224 (GRCm39) |
N423D |
probably damaging |
Het |
| Cntnap1 |
G |
A |
11: 101,079,567 (GRCm39) |
W1268* |
probably null |
Het |
| Col2a1 |
G |
A |
15: 97,877,550 (GRCm39) |
A1011V |
probably benign |
Het |
| Cst11 |
A |
G |
2: 148,612,325 (GRCm39) |
I104T |
probably benign |
Het |
| Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
| Dnaaf4 |
T |
C |
9: 72,879,600 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,001,403 (GRCm39) |
F847L |
probably benign |
Het |
| Dspp |
A |
T |
5: 104,323,439 (GRCm39) |
H194L |
possibly damaging |
Het |
| Dync2i2 |
C |
A |
2: 29,922,781 (GRCm39) |
R322L |
probably benign |
Het |
| Frmd5 |
C |
A |
2: 121,379,341 (GRCm39) |
R414L |
probably damaging |
Het |
| Galnt3 |
C |
A |
2: 65,915,585 (GRCm39) |
R592L |
probably benign |
Het |
| Gm38706 |
T |
A |
6: 130,461,580 (GRCm39) |
|
noncoding transcript |
Het |
| Gm38706 |
T |
A |
6: 130,461,983 (GRCm39) |
|
noncoding transcript |
Het |
| Hivep3 |
A |
G |
4: 119,956,114 (GRCm39) |
K1477E |
probably benign |
Het |
| Igsf3 |
C |
T |
3: 101,358,233 (GRCm39) |
T708M |
probably damaging |
Het |
| Ikzf4 |
T |
G |
10: 128,477,119 (GRCm39) |
E64A |
probably benign |
Het |
| Klhl28 |
C |
T |
12: 65,004,001 (GRCm39) |
E171K |
probably damaging |
Het |
| Lat2 |
A |
G |
5: 134,631,991 (GRCm39) |
V152A |
probably benign |
Het |
| Lrp12 |
C |
T |
15: 39,741,852 (GRCm39) |
D288N |
probably damaging |
Het |
| Mdp1 |
C |
T |
14: 55,896,683 (GRCm39) |
R126Q |
probably damaging |
Het |
| Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
| Myh4 |
T |
A |
11: 67,144,358 (GRCm39) |
S1243T |
probably benign |
Het |
| Myo3b |
T |
A |
2: 70,088,412 (GRCm39) |
F892I |
probably damaging |
Het |
| Nckap5l |
T |
C |
15: 99,323,731 (GRCm39) |
N924S |
possibly damaging |
Het |
| Npnt |
C |
T |
3: 132,612,218 (GRCm39) |
C218Y |
probably damaging |
Het |
| Or2a20 |
T |
A |
6: 43,193,991 (GRCm39) |
I48N |
probably damaging |
Het |
| Or2d2b |
A |
T |
7: 106,705,288 (GRCm39) |
M260K |
probably damaging |
Het |
| Or7a42 |
T |
A |
10: 78,791,905 (GRCm39) |
F289I |
probably damaging |
Het |
| Pfkm |
G |
A |
15: 98,020,570 (GRCm39) |
C233Y |
probably benign |
Het |
| Pigq |
A |
G |
17: 26,153,177 (GRCm39) |
V338A |
probably benign |
Het |
| Pld4 |
A |
T |
12: 112,734,484 (GRCm39) |
N415I |
possibly damaging |
Het |
| Pmm1 |
A |
T |
15: 81,842,095 (GRCm39) |
|
probably null |
Het |
| Polg |
G |
T |
7: 79,109,822 (GRCm39) |
P394T |
probably damaging |
Het |
| Polq |
A |
T |
16: 36,882,749 (GRCm39) |
I1359L |
probably benign |
Het |
| Pramel30 |
A |
G |
4: 144,057,836 (GRCm39) |
S148G |
probably benign |
Het |
| Pros1 |
A |
G |
16: 62,748,548 (GRCm39) |
N674D |
possibly damaging |
Het |
| Psme4 |
T |
A |
11: 30,806,896 (GRCm39) |
|
probably benign |
Het |
| Rasa3 |
A |
T |
8: 13,634,959 (GRCm39) |
C453* |
probably null |
Het |
| Repin1 |
T |
C |
6: 48,573,542 (GRCm39) |
V101A |
probably damaging |
Het |
| Rnf186 |
A |
T |
4: 138,694,540 (GRCm39) |
M27L |
probably benign |
Het |
| Rpa1 |
A |
G |
11: 75,204,125 (GRCm39) |
|
probably null |
Het |
| Rph3a |
G |
T |
5: 121,083,454 (GRCm39) |
N605K |
probably damaging |
Het |
| Rps18 |
A |
T |
17: 34,171,258 (GRCm39) |
|
probably null |
Het |
| Scgn |
A |
G |
13: 24,174,958 (GRCm39) |
I20T |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,848,452 (GRCm39) |
V652E |
possibly damaging |
Het |
| Slc23a2 |
T |
C |
2: 131,943,414 (GRCm39) |
H29R |
probably damaging |
Het |
| Slc34a3 |
C |
T |
2: 25,120,854 (GRCm39) |
V383I |
possibly damaging |
Het |
| Slc5a1 |
A |
G |
5: 33,309,917 (GRCm39) |
M382V |
possibly damaging |
Het |
| Slc5a3 |
T |
A |
16: 91,874,169 (GRCm39) |
S75R |
probably damaging |
Het |
| Stat5b |
G |
C |
11: 100,693,309 (GRCm39) |
H111D |
probably benign |
Het |
| Tanc2 |
G |
A |
11: 105,515,886 (GRCm39) |
M1I |
probably null |
Het |
| Tbcel |
C |
T |
9: 42,327,419 (GRCm39) |
G328E |
probably damaging |
Het |
| Tecta |
C |
A |
9: 42,284,358 (GRCm39) |
R909L |
possibly damaging |
Het |
| Tnip1 |
A |
T |
11: 54,828,810 (GRCm39) |
M119K |
probably benign |
Het |
| Zbbx |
A |
C |
3: 75,058,755 (GRCm39) |
S51A |
possibly damaging |
Het |
| Zc3h12c |
T |
C |
9: 52,028,000 (GRCm39) |
N454S |
probably benign |
Het |
| Zfp980 |
G |
A |
4: 145,428,653 (GRCm39) |
G461S |
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 |
|
|
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'- CCTTGGCTGAGCACATGATG -3'
(R):5'- TTTCGAACTGGAAACTTCAGC -3'
Sequencing Primer
(F):5'- CACATGATGTGCTCCGGGAAG -3'
(R):5'- GAACTGGAAACTTCAGCTGCGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation