Incidental Mutation 'R2696:Krt87'
| ID |
251109 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt87
|
| Ensembl Gene |
ENSMUSG00000047641 |
| Gene Name |
keratin 87 |
| Synonyms |
Krt2-25, Krt83 |
| MMRRC Submission |
040434-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R2696 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
101329371-101336685 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101384890 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 402
(I402N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023718]
|
| AlphaFold |
Q6IMF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023718
AA Change: I402N
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000023718
Gene: ENSMUSG00000067613
AA Change: I402N
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
T |
16: 4,668,228 (GRCm39) |
T540S |
probably benign |
Het |
| Acp7 |
G |
T |
7: 28,314,001 (GRCm39) |
H369Q |
probably benign |
Het |
| Adgrg3 |
A |
G |
8: 95,747,702 (GRCm39) |
N65S |
probably benign |
Het |
| Anln |
A |
G |
9: 22,272,259 (GRCm39) |
V620A |
probably benign |
Het |
| Atp10a |
T |
A |
7: 58,463,366 (GRCm39) |
S966R |
probably benign |
Het |
| Atp8b3 |
T |
A |
10: 80,370,017 (GRCm39) |
Q132L |
possibly damaging |
Het |
| Col4a1 |
T |
A |
8: 11,285,092 (GRCm39) |
|
probably null |
Het |
| Ddx21 |
T |
C |
10: 62,429,871 (GRCm39) |
H291R |
possibly damaging |
Het |
| Dlgap3 |
A |
G |
4: 127,088,416 (GRCm39) |
Y4C |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,278,722 (GRCm39) |
N1106D |
probably benign |
Het |
| Esyt1 |
T |
C |
10: 128,352,914 (GRCm39) |
D662G |
probably damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,808 (GRCm39) |
V297E |
possibly damaging |
Het |
| Faf1 |
T |
A |
4: 109,698,525 (GRCm39) |
N328K |
possibly damaging |
Het |
| Gdf3 |
A |
C |
6: 122,583,859 (GRCm39) |
F169L |
probably benign |
Het |
| Ifi213 |
G |
A |
1: 173,417,590 (GRCm39) |
T274I |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,914,231 (GRCm39) |
D1746G |
possibly damaging |
Het |
| Ighv1-75 |
T |
C |
12: 115,797,826 (GRCm39) |
K32R |
probably benign |
Het |
| Ipo8 |
T |
A |
6: 148,698,239 (GRCm39) |
Q594L |
probably benign |
Het |
| Med18 |
G |
A |
4: 132,187,281 (GRCm39) |
R118W |
probably damaging |
Het |
| Mmrn2 |
A |
G |
14: 34,120,372 (GRCm39) |
E414G |
probably damaging |
Het |
| Myo6 |
A |
G |
9: 80,168,176 (GRCm39) |
T447A |
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,279,935 (GRCm39) |
E27G |
probably benign |
Het |
| Ngly1 |
T |
C |
14: 16,283,439 (GRCm38) |
L406S |
possibly damaging |
Het |
| Or14j1 |
T |
C |
17: 38,145,998 (GRCm39) |
I36T |
probably benign |
Het |
| Or51l4 |
A |
G |
7: 103,404,735 (GRCm39) |
I19T |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,629,585 (GRCm39) |
Y156C |
probably damaging |
Het |
| Pkd2l1 |
T |
A |
19: 44,145,708 (GRCm39) |
T172S |
probably benign |
Het |
| Pknox2 |
G |
A |
9: 36,820,987 (GRCm39) |
R292* |
probably null |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Polr3e |
T |
C |
7: 120,532,600 (GRCm39) |
L212P |
probably damaging |
Het |
| Ppp4r4 |
A |
G |
12: 103,547,653 (GRCm39) |
I215M |
possibly damaging |
Het |
| Psmg2 |
T |
C |
18: 67,781,288 (GRCm39) |
Y127H |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptp4a1 |
A |
T |
1: 30,985,213 (GRCm39) |
M4K |
probably benign |
Het |
| R3hcc1l |
A |
T |
19: 42,552,427 (GRCm39) |
I475L |
possibly damaging |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rsf1 |
GGC |
GGCGGCGGCGGC |
7: 97,229,140 (GRCm39) |
|
probably benign |
Het |
| Sec63 |
T |
A |
10: 42,659,522 (GRCm39) |
I70N |
probably benign |
Het |
| Slc2a5 |
A |
C |
4: 150,205,203 (GRCm39) |
K4T |
probably benign |
Het |
| Slc4a3 |
A |
G |
1: 75,532,119 (GRCm39) |
Y939C |
possibly damaging |
Het |
| Slc7a15 |
T |
C |
12: 8,579,345 (GRCm39) |
*229W |
probably null |
Het |
| Slco1a6 |
C |
A |
6: 142,058,662 (GRCm39) |
G206C |
probably damaging |
Het |
| Spata9 |
A |
G |
13: 76,125,895 (GRCm39) |
Q126R |
probably benign |
Het |
| Speg |
A |
T |
1: 75,383,570 (GRCm39) |
D1186V |
probably benign |
Het |
| Spink5 |
T |
G |
18: 44,115,359 (GRCm39) |
M197R |
probably damaging |
Het |
| Stab2 |
T |
C |
10: 86,697,363 (GRCm39) |
D1975G |
probably benign |
Het |
| Syngap1 |
T |
A |
17: 27,176,385 (GRCm39) |
C224* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,698,807 (GRCm39) |
|
probably benign |
Het |
| Txnrd1 |
G |
A |
10: 82,721,116 (GRCm39) |
E397K |
probably benign |
Het |
| Ugt2b36 |
A |
T |
5: 87,237,344 (GRCm39) |
M313K |
probably damaging |
Het |
| Ulk3 |
A |
G |
9: 57,497,724 (GRCm39) |
I74V |
possibly damaging |
Het |
| Zcchc4 |
T |
C |
5: 52,953,573 (GRCm39) |
V194A |
probably damaging |
Het |
| Zfp27 |
C |
T |
7: 29,595,792 (GRCm39) |
A58T |
possibly damaging |
Het |
| Zfp398 |
T |
G |
6: 47,843,879 (GRCm39) |
*512E |
probably null |
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 |
|
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'- ACAATGGCTTGTGTGTTAAGTC -3'
(R):5'- TGTTCCCAGAACACCAAGCTG -3'
Sequencing Primer
(F):5'- GTGTTAAGTCCACTTAAGGCCAG -3'
(R):5'- TGGAGGCTGCTGTGACC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation