Incidental Mutation 'R7297:Krt87'
ID |
566771 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt87
|
Ensembl Gene |
ENSMUSG00000047641 |
Gene Name |
keratin 87 |
Synonyms |
Krt2-25, Krt83 |
MMRRC Submission |
045401-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R7297 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
101329371-101336685 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101387528 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 170
(D170G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023718
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023718]
|
AlphaFold |
Q6IMF0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023718
AA Change: D170G
PolyPhen 2
Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000023718 Gene: ENSMUSG00000067613 AA Change: D170G
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: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
A |
G |
2: 25,332,088 (GRCm39) |
D1400G |
probably benign |
Het |
Abca6 |
C |
T |
11: 110,073,852 (GRCm39) |
|
probably null |
Het |
Adh4 |
A |
G |
3: 138,134,901 (GRCm39) |
I358M |
possibly damaging |
Het |
Akap6 |
T |
G |
12: 52,934,147 (GRCm39) |
D546E |
probably benign |
Het |
Arap3 |
G |
A |
18: 38,106,616 (GRCm39) |
A1409V |
possibly damaging |
Het |
Arhgap22 |
C |
T |
14: 32,993,890 (GRCm39) |
R68* |
probably null |
Het |
Arhgef4 |
A |
T |
1: 34,846,273 (GRCm39) |
D207V |
probably damaging |
Het |
Asb15 |
A |
G |
6: 24,566,462 (GRCm39) |
T472A |
probably damaging |
Het |
Ascl1 |
A |
T |
10: 87,328,326 (GRCm39) |
S209T |
probably damaging |
Het |
Asxl1 |
T |
C |
2: 153,239,355 (GRCm39) |
V382A |
probably benign |
Het |
Atp11a |
T |
C |
8: 12,856,774 (GRCm39) |
|
probably null |
Het |
Calu |
C |
T |
6: 29,356,554 (GRCm39) |
R27* |
probably null |
Het |
Cdh20 |
A |
G |
1: 104,898,598 (GRCm39) |
T442A |
probably benign |
Het |
Chrm3 |
T |
A |
13: 9,927,869 (GRCm39) |
Q389L |
probably benign |
Het |
Cntnap1 |
A |
G |
11: 101,079,460 (GRCm39) |
T1233A |
probably benign |
Het |
Cwc15 |
G |
A |
9: 14,421,525 (GRCm39) |
C197Y |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Dennd3 |
C |
T |
15: 73,429,459 (GRCm39) |
T914I |
probably damaging |
Het |
Dlx3 |
C |
A |
11: 95,011,276 (GRCm39) |
Y43* |
probably null |
Het |
Dnah17 |
A |
T |
11: 117,946,556 (GRCm39) |
|
probably null |
Het |
Dnah17 |
A |
G |
11: 117,994,182 (GRCm39) |
F1081S |
probably damaging |
Het |
Dpp10 |
G |
A |
1: 123,281,157 (GRCm39) |
Q631* |
probably null |
Het |
Dsel |
T |
A |
1: 111,789,506 (GRCm39) |
D343V |
probably damaging |
Het |
Efcab12 |
T |
C |
6: 115,787,997 (GRCm39) |
D655G |
possibly damaging |
Het |
Epha8 |
T |
A |
4: 136,673,224 (GRCm39) |
I187L |
probably damaging |
Het |
Exosc10 |
A |
G |
4: 148,664,834 (GRCm39) |
K781E |
probably damaging |
Het |
Exosc5 |
T |
C |
7: 25,365,751 (GRCm39) |
L200P |
probably benign |
Het |
Faiml |
T |
C |
9: 99,111,666 (GRCm39) |
E131G |
probably damaging |
Het |
Gm5145 |
G |
A |
17: 20,790,993 (GRCm39) |
V124I |
probably benign |
Het |
Grm7 |
T |
C |
6: 110,622,974 (GRCm39) |
V49A |
probably benign |
Het |
Gtf2e1 |
T |
C |
16: 37,356,427 (GRCm39) |
D35G |
probably damaging |
Het |
Heatr1 |
C |
T |
13: 12,435,941 (GRCm39) |
Q1160* |
probably null |
Het |
Herc2 |
T |
A |
7: 55,786,406 (GRCm39) |
C1584S |
probably benign |
Het |
Hsd17b3 |
T |
C |
13: 64,224,165 (GRCm39) |
I88V |
probably damaging |
Het |
Hspa14 |
A |
C |
2: 3,499,179 (GRCm39) |
L205R |
possibly damaging |
Het |
Ifna11 |
A |
C |
4: 88,738,662 (GRCm39) |
E156A |
possibly damaging |
Het |
Mas1 |
T |
C |
17: 13,060,745 (GRCm39) |
Y226C |
probably damaging |
Het |
Micall1 |
T |
C |
15: 79,005,097 (GRCm39) |
F190L |
unknown |
Het |
Msi2 |
A |
T |
11: 88,370,864 (GRCm39) |
L141Q |
probably damaging |
Het |
Nfkbib |
T |
C |
7: 28,465,768 (GRCm39) |
D27G |
probably benign |
Het |
Nlrp9b |
A |
G |
7: 19,783,438 (GRCm39) |
D927G |
possibly damaging |
Het |
Nrg3 |
T |
C |
14: 38,092,896 (GRCm39) |
D579G |
probably benign |
Het |
Nutm1 |
G |
A |
2: 112,080,401 (GRCm39) |
R505C |
probably damaging |
Het |
Or8d1 |
G |
A |
9: 38,767,245 (GRCm39) |
D296N |
probably damaging |
Het |
Or8h6 |
A |
T |
2: 86,703,980 (GRCm39) |
V29E |
probably damaging |
Het |
Parp4 |
C |
T |
14: 56,885,138 (GRCm39) |
P1406S |
not run |
Het |
Pkib |
A |
T |
10: 57,612,422 (GRCm39) |
Q101L |
possibly damaging |
Het |
Plat |
C |
T |
8: 23,265,713 (GRCm39) |
T252I |
probably benign |
Het |
Ppm1d |
A |
T |
11: 85,236,821 (GRCm39) |
E533D |
probably damaging |
Het |
Psd3 |
T |
C |
8: 68,573,686 (GRCm39) |
K165R |
probably damaging |
Het |
Psg29 |
T |
A |
7: 16,944,616 (GRCm39) |
Y375* |
probably null |
Het |
Pus7 |
A |
T |
5: 23,946,908 (GRCm39) |
I644N |
probably damaging |
Het |
Rbbp9 |
A |
T |
2: 144,385,722 (GRCm39) |
M181K |
probably benign |
Het |
Rell1 |
A |
T |
5: 64,093,418 (GRCm39) |
N112K |
possibly damaging |
Het |
Simc1 |
AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG |
AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG |
13: 54,673,048 (GRCm39) |
|
probably benign |
Het |
Skint5 |
G |
A |
4: 113,400,131 (GRCm39) |
T1184M |
unknown |
Het |
Slc27a2 |
T |
A |
2: 126,420,866 (GRCm39) |
D452E |
probably damaging |
Het |
Slc44a4 |
T |
A |
17: 35,146,888 (GRCm39) |
I489N |
probably damaging |
Het |
Slfn14 |
T |
A |
11: 83,169,821 (GRCm39) |
K608* |
probably null |
Het |
Snx15 |
T |
A |
19: 6,170,537 (GRCm39) |
I301F |
probably damaging |
Het |
Sost |
C |
T |
11: 101,854,929 (GRCm39) |
G127R |
probably damaging |
Het |
Stt3b |
A |
G |
9: 115,106,025 (GRCm39) |
I150T |
probably damaging |
Het |
Susd2 |
T |
C |
10: 75,478,402 (GRCm39) |
D58G |
probably benign |
Het |
Tex46 |
T |
G |
4: 136,340,212 (GRCm39) |
V99G |
probably damaging |
Het |
Tgfbi |
T |
A |
13: 56,779,926 (GRCm39) |
F492I |
possibly damaging |
Het |
Tmem132c |
G |
A |
5: 127,437,281 (GRCm39) |
A257T |
probably benign |
Het |
Trim2 |
A |
T |
3: 84,117,540 (GRCm39) |
I51K |
probably damaging |
Het |
Tsn |
A |
T |
1: 118,228,591 (GRCm39) |
Y210* |
probably null |
Het |
Umodl1 |
G |
A |
17: 31,227,639 (GRCm39) |
R1324H |
probably benign |
Het |
Utp3 |
G |
C |
5: 88,702,376 (GRCm39) |
|
probably benign |
Het |
Vmn1r5 |
A |
T |
6: 56,963,204 (GRCm39) |
N293I |
possibly damaging |
Het |
Vmn2r124 |
A |
T |
17: 18,293,835 (GRCm39) |
I641F |
probably damaging |
Het |
Vmn2r84 |
T |
C |
10: 130,227,119 (GRCm39) |
N240D |
probably benign |
Het |
Wbp1l |
A |
G |
19: 46,642,839 (GRCm39) |
D264G |
possibly 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 |
|
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'- GTGAAGAATTCTGTGCCTGAAGG -3'
(R):5'- TGCAAGAGTATGTTCTCAGACG -3'
Sequencing Primer
(F):5'- TTCTGTGCCTGAAGGAAGAC -3'
(R):5'- AGACGTTAACTCTGCATGGC -3'
|
Posted On |
2019-06-26 |