Incidental Mutation 'IGL01729:Fam186b'
| ID |
105396 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam186b
|
| Ensembl Gene |
ENSMUSG00000078907 |
| Gene Name |
family with sequence similarity 186, member B |
| Synonyms |
EG545136 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01729
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
99168899-99193769 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 99178132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 398
(S398L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109100]
[ENSMUST00000230608]
|
| AlphaFold |
D3Z420 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109100
AA Change: S398L
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000104728
Gene: ENSMUSG00000078907
AA Change: S398L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:FBG
|
12 |
193 |
1e-19 |
BLAST |
|
low complexity region
|
354 |
363 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
493 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
789 |
810 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230608
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a member of the FAM186 family, however, its exact function is not known. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
A |
G |
15: 83,112,526 (GRCm39) |
F86L |
probably damaging |
Het |
| Acer3 |
A |
G |
7: 97,866,072 (GRCm39) |
V217A |
probably benign |
Het |
| Adcy10 |
T |
C |
1: 165,340,737 (GRCm39) |
|
probably null |
Het |
| Adcy8 |
C |
T |
15: 64,678,511 (GRCm39) |
V481I |
probably damaging |
Het |
| Ano3 |
C |
T |
2: 110,611,739 (GRCm39) |
|
probably null |
Het |
| Arhgap23 |
C |
T |
11: 97,344,787 (GRCm39) |
T583I |
probably damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,057,106 (GRCm39) |
L173P |
probably damaging |
Het |
| Clgn |
T |
C |
8: 84,124,279 (GRCm39) |
W74R |
probably damaging |
Het |
| Clstn3 |
T |
C |
6: 124,426,753 (GRCm39) |
S523G |
probably benign |
Het |
| Dnah10 |
A |
C |
5: 124,864,529 (GRCm39) |
K2245Q |
probably benign |
Het |
| Dsg1b |
G |
T |
18: 20,538,295 (GRCm39) |
V634L |
possibly damaging |
Het |
| Dzip3 |
A |
T |
16: 48,748,726 (GRCm39) |
V864E |
possibly damaging |
Het |
| Ear2 |
A |
T |
14: 44,340,701 (GRCm39) |
R120* |
probably null |
Het |
| Fam171b |
T |
C |
2: 83,685,881 (GRCm39) |
|
probably benign |
Het |
| Gabrp |
T |
C |
11: 33,502,689 (GRCm39) |
K392E |
probably damaging |
Het |
| Gm10355 |
G |
A |
3: 101,213,999 (GRCm39) |
|
noncoding transcript |
Het |
| Gm3424 |
T |
C |
14: 17,337,188 (GRCm39) |
Y90C |
probably damaging |
Het |
| Gm8165 |
A |
G |
14: 43,910,186 (GRCm39) |
V212A |
unknown |
Het |
| Grm7 |
G |
A |
6: 111,223,145 (GRCm39) |
R395Q |
probably benign |
Het |
| Il1r1 |
T |
A |
1: 40,333,986 (GRCm39) |
N185K |
probably damaging |
Het |
| Jam3 |
A |
G |
9: 27,016,821 (GRCm39) |
F80L |
probably damaging |
Het |
| Map1s |
T |
C |
8: 71,365,712 (GRCm39) |
Y206H |
probably damaging |
Het |
| Mroh7 |
A |
G |
4: 106,561,402 (GRCm39) |
Y614H |
possibly damaging |
Het |
| Ntmt2 |
T |
A |
1: 163,552,572 (GRCm39) |
D18V |
probably damaging |
Het |
| Pate2 |
T |
C |
9: 35,581,888 (GRCm39) |
Y61H |
probably damaging |
Het |
| Prox1 |
T |
A |
1: 189,893,372 (GRCm39) |
T358S |
probably benign |
Het |
| Prpf6 |
T |
A |
2: 181,296,710 (GRCm39) |
D876E |
probably damaging |
Het |
| Rpf1 |
G |
A |
3: 146,212,904 (GRCm39) |
R311C |
probably damaging |
Het |
| Rpusd2 |
T |
A |
2: 118,865,837 (GRCm39) |
V178D |
probably damaging |
Het |
| Stx2 |
A |
G |
5: 129,068,042 (GRCm39) |
F222L |
probably benign |
Het |
| Themis |
T |
A |
10: 28,637,587 (GRCm39) |
Y230* |
probably null |
Het |
| Tmem132e |
T |
C |
11: 82,325,942 (GRCm39) |
L314P |
possibly damaging |
Het |
| Tmtc3 |
T |
C |
10: 100,283,017 (GRCm39) |
E846G |
probably benign |
Het |
| Trem1 |
T |
C |
17: 48,551,603 (GRCm39) |
V88A |
possibly damaging |
Het |
| Trim21 |
G |
A |
7: 102,213,100 (GRCm39) |
A66V |
probably damaging |
Het |
| Trip4 |
A |
C |
9: 65,782,174 (GRCm39) |
V186G |
probably benign |
Het |
| Vps9d1 |
T |
C |
8: 123,973,739 (GRCm39) |
E348G |
probably damaging |
Het |
| Xrn2 |
T |
C |
2: 146,878,717 (GRCm39) |
|
probably null |
Het |
| Zfp36 |
A |
G |
7: 28,077,888 (GRCm39) |
S7P |
probably damaging |
Het |
|
| Other mutations in Fam186b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01362:Fam186b
|
APN |
15 |
99,178,199 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01948:Fam186b
|
APN |
15 |
99,178,327 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02133:Fam186b
|
APN |
15 |
99,171,584 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03010:Fam186b
|
APN |
15 |
99,178,508 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03371:Fam186b
|
APN |
15 |
99,178,258 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0457:Fam186b
|
UTSW |
15 |
99,169,166 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0522:Fam186b
|
UTSW |
15 |
99,178,400 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0571:Fam186b
|
UTSW |
15 |
99,184,834 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0620:Fam186b
|
UTSW |
15 |
99,178,009 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1575:Fam186b
|
UTSW |
15 |
99,184,852 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1883:Fam186b
|
UTSW |
15 |
99,176,679 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2144:Fam186b
|
UTSW |
15 |
99,178,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2267:Fam186b
|
UTSW |
15 |
99,183,524 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2332:Fam186b
|
UTSW |
15 |
99,178,309 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2394:Fam186b
|
UTSW |
15 |
99,178,058 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3624:Fam186b
|
UTSW |
15 |
99,178,396 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4681:Fam186b
|
UTSW |
15 |
99,178,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4811:Fam186b
|
UTSW |
15 |
99,178,118 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4906:Fam186b
|
UTSW |
15 |
99,169,202 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5028:Fam186b
|
UTSW |
15 |
99,178,682 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5047:Fam186b
|
UTSW |
15 |
99,178,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5295:Fam186b
|
UTSW |
15 |
99,181,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5440:Fam186b
|
UTSW |
15 |
99,171,734 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5468:Fam186b
|
UTSW |
15 |
99,176,751 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5596:Fam186b
|
UTSW |
15 |
99,169,170 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5759:Fam186b
|
UTSW |
15 |
99,177,598 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6239:Fam186b
|
UTSW |
15 |
99,178,315 (GRCm39) |
missense |
probably benign |
|
|
R7117:Fam186b
|
UTSW |
15 |
99,183,471 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7141:Fam186b
|
UTSW |
15 |
99,181,773 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7223:Fam186b
|
UTSW |
15 |
99,177,718 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7301:Fam186b
|
UTSW |
15 |
99,176,629 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7441:Fam186b
|
UTSW |
15 |
99,177,970 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7614:Fam186b
|
UTSW |
15 |
99,184,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7825:Fam186b
|
UTSW |
15 |
99,181,728 (GRCm39) |
missense |
not run |
|
|
R7853:Fam186b
|
UTSW |
15 |
99,178,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8340:Fam186b
|
UTSW |
15 |
99,177,595 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8523:Fam186b
|
UTSW |
15 |
99,177,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8821:Fam186b
|
UTSW |
15 |
99,178,733 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8939:Fam186b
|
UTSW |
15 |
99,177,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9016:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9018:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9305:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9341:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9343:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9343:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9345:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9346:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9450:Fam186b
|
UTSW |
15 |
99,183,425 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9464:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9517:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9521:Fam186b
|
UTSW |
15 |
99,178,419 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9563:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9565:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9565:Fam186b
|
UTSW |
15 |
99,176,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9568:Fam186b
|
UTSW |
15 |
99,176,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9652:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9653:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9727:Fam186b
|
UTSW |
15 |
99,171,669 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation