Incidental Mutation 'R0144:Krt87'
| ID |
22534 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt87
|
| Ensembl Gene |
ENSMUSG00000047641 |
| Gene Name |
keratin 87 |
| Synonyms |
Krt2-25, Krt83 |
| MMRRC Submission |
038429-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R0144 (G1)
|
| Quality Score |
164 |
|
Status
|
Validated
(trace)
|
| Chromosome |
15 |
| Chromosomal Location |
101329371-101336685 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101336542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 37
(Y37C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081945]
|
| AlphaFold |
Q6IMF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081945
AA Change: Y37C
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000080613
Gene: ENSMUSG00000047641
AA Change: Y37C
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 87.0%
|
| Validation Efficiency |
100% (90/90) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
T |
A |
12: 84,652,739 (GRCm39) |
|
probably null |
Het |
| Acp6 |
T |
A |
3: 97,073,145 (GRCm39) |
|
probably benign |
Het |
| AI661453 |
A |
T |
17: 47,780,224 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,109,233 (GRCm39) |
I674V |
probably benign |
Het |
| Armc2 |
A |
T |
10: 41,823,883 (GRCm39) |
|
probably benign |
Het |
| Atp8b1 |
G |
C |
18: 64,704,445 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
A |
T |
2: 59,737,839 (GRCm39) |
N1823K |
probably damaging |
Het |
| Bbx |
C |
T |
16: 50,100,755 (GRCm39) |
E47K |
probably benign |
Het |
| Brca1 |
A |
T |
11: 101,416,947 (GRCm39) |
S396T |
probably damaging |
Het |
| Btnl6 |
G |
T |
17: 34,732,994 (GRCm39) |
R290S |
probably benign |
Het |
| Casp8ap2 |
A |
G |
4: 32,643,797 (GRCm39) |
R957G |
possibly damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,656,417 (GRCm39) |
L132P |
probably damaging |
Het |
| Ccdc187 |
A |
G |
2: 26,166,215 (GRCm39) |
I738T |
probably damaging |
Het |
| Ceacam15 |
G |
T |
7: 16,407,116 (GRCm39) |
H134N |
probably benign |
Het |
| Cep170 |
T |
C |
1: 176,620,161 (GRCm39) |
I46V |
probably benign |
Het |
| Cfap57 |
T |
C |
4: 118,441,902 (GRCm39) |
D722G |
probably damaging |
Het |
| Col11a1 |
A |
T |
3: 113,907,243 (GRCm39) |
D628V |
unknown |
Het |
| Csmd1 |
A |
T |
8: 16,441,838 (GRCm39) |
V342E |
probably benign |
Het |
| Dennd1a |
A |
G |
2: 38,016,652 (GRCm39) |
V64A |
probably damaging |
Het |
| Dlec1 |
G |
T |
9: 118,971,934 (GRCm39) |
G1345V |
probably benign |
Het |
| Dnah1 |
G |
A |
14: 30,989,831 (GRCm39) |
|
probably benign |
Het |
| Dock5 |
C |
T |
14: 68,023,735 (GRCm39) |
G1142D |
probably benign |
Het |
| Etv2 |
C |
A |
7: 30,334,308 (GRCm39) |
A142S |
probably benign |
Het |
| Fam110c |
C |
A |
12: 31,124,500 (GRCm39) |
T154K |
unknown |
Het |
| Fbxo17 |
C |
G |
7: 28,434,765 (GRCm39) |
D183E |
probably damaging |
Het |
| Fbxo30 |
T |
A |
10: 11,170,964 (GRCm39) |
W681R |
probably damaging |
Het |
| Fig4 |
A |
G |
10: 41,134,045 (GRCm39) |
Y413H |
probably damaging |
Het |
| Gab1 |
A |
G |
8: 81,511,830 (GRCm39) |
|
probably benign |
Het |
| Gabarapl1 |
T |
C |
6: 129,510,411 (GRCm39) |
M1T |
probably null |
Het |
| H2-M10.6 |
G |
A |
17: 37,123,133 (GRCm39) |
C22Y |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,889,751 (GRCm39) |
D2432G |
probably damaging |
Het |
| Il13 |
T |
C |
11: 53,524,003 (GRCm39) |
D60G |
possibly damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,401,668 (GRCm39) |
L479P |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,228,653 (GRCm39) |
Q1314L |
probably damaging |
Het |
| Jrk |
C |
T |
15: 74,578,005 (GRCm39) |
G427S |
probably benign |
Het |
| Kcnb1 |
T |
G |
2: 166,946,467 (GRCm39) |
N794H |
probably damaging |
Het |
| Klhl8 |
A |
T |
5: 104,015,804 (GRCm39) |
S361R |
probably benign |
Het |
| Lbp |
A |
T |
2: 158,161,630 (GRCm39) |
S231C |
probably damaging |
Het |
| Lpin2 |
A |
G |
17: 71,532,071 (GRCm39) |
E142G |
probably damaging |
Het |
| Lrch4 |
G |
A |
5: 137,636,805 (GRCm39) |
|
probably null |
Het |
| Lypd11 |
A |
G |
7: 24,423,015 (GRCm39) |
V101A |
possibly damaging |
Het |
| Manea |
A |
G |
4: 26,340,719 (GRCm39) |
M81T |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,316,849 (GRCm39) |
T618A |
probably benign |
Het |
| Me3 |
A |
G |
7: 89,389,080 (GRCm39) |
D128G |
probably damaging |
Het |
| Mix23 |
A |
T |
16: 35,905,484 (GRCm39) |
N92I |
possibly damaging |
Het |
| Mug2 |
A |
G |
6: 122,047,970 (GRCm39) |
|
probably benign |
Het |
| Myo9b |
A |
T |
8: 71,798,687 (GRCm39) |
Q901L |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,608,948 (GRCm39) |
R640G |
probably damaging |
Het |
| Nalcn |
C |
T |
14: 123,647,251 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,283,421 (GRCm39) |
N422S |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,437,953 (GRCm39) |
Y88N |
probably damaging |
Het |
| Nrxn3 |
G |
A |
12: 89,315,162 (GRCm39) |
A358T |
probably damaging |
Het |
| Or52s1 |
A |
T |
7: 102,861,747 (GRCm39) |
I216F |
probably damaging |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Or5p62 |
T |
C |
7: 107,771,178 (GRCm39) |
I258V |
probably benign |
Het |
| Phlpp2 |
C |
T |
8: 110,634,145 (GRCm39) |
R242W |
probably damaging |
Het |
| Pld5 |
T |
C |
1: 175,798,107 (GRCm39) |
N431D |
probably benign |
Het |
| Prss28 |
G |
A |
17: 25,528,424 (GRCm39) |
V16M |
probably damaging |
Het |
| Psmd2 |
T |
A |
16: 20,480,975 (GRCm39) |
|
probably null |
Het |
| Ptpn21 |
A |
T |
12: 98,654,868 (GRCm39) |
S700T |
probably benign |
Het |
| Rasa2 |
A |
T |
9: 96,474,072 (GRCm39) |
V152D |
probably damaging |
Het |
| Reln |
G |
T |
5: 22,153,447 (GRCm39) |
R2286S |
probably damaging |
Het |
| Rflnb |
G |
T |
11: 75,915,789 (GRCm39) |
P102Q |
probably damaging |
Het |
| Rin2 |
G |
A |
2: 145,718,559 (GRCm39) |
V680I |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,370,426 (GRCm39) |
K4742* |
probably null |
Het |
| Rpp40 |
A |
T |
13: 36,085,352 (GRCm39) |
S143T |
probably benign |
Het |
| Rps12 |
A |
G |
10: 23,662,689 (GRCm39) |
I51T |
probably benign |
Het |
| Rsf1 |
T |
A |
7: 97,285,614 (GRCm39) |
W109R |
probably damaging |
Het |
| Sipa1l2 |
C |
T |
8: 126,176,615 (GRCm39) |
|
probably null |
Het |
| Tspan5 |
G |
T |
3: 138,604,109 (GRCm39) |
V165L |
probably damaging |
Het |
| Uts2r |
T |
A |
11: 121,052,291 (GRCm39) |
V385E |
probably benign |
Het |
| Vma21-ps |
T |
A |
4: 52,497,231 (GRCm39) |
D5V |
possibly damaging |
Het |
| Vmn2r62 |
T |
A |
7: 42,438,440 (GRCm39) |
N132I |
probably damaging |
Het |
| Zfp622 |
T |
C |
15: 25,991,665 (GRCm39) |
|
probably benign |
Het |
| Zmiz1 |
A |
G |
14: 25,655,671 (GRCm39) |
K766R |
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 |
|
|
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 |
|
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'- GCTGTTGAGACACTTGATCTGCTCC -3'
(R):5'- TCCCTCCTGCACGATATAAGGCTC -3'
Sequencing Primer
(F):5'- TTCACACACTGAGCATTGGG -3'
(R):5'- CACGATATAAGGCTCAGAGCG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation