Incidental Mutation 'IGL01362:Fam186b'
ID |
75784 |
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 # |
IGL01362
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
99168899-99193769 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 99178199 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 376
(T376A)
|
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: T376A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000104728 Gene: ENSMUSG00000078907 AA Change: T376A
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 |
Abcc12 |
T |
A |
8: 87,261,322 (GRCm39) |
D733V |
probably benign |
Het |
Baz2a |
G |
A |
10: 127,957,833 (GRCm39) |
G1062D |
probably damaging |
Het |
Bmp8a |
C |
A |
4: 123,207,094 (GRCm39) |
R389L |
probably damaging |
Het |
Ccdc148 |
A |
G |
2: 58,719,811 (GRCm39) |
V488A |
probably benign |
Het |
Cdh24 |
T |
C |
14: 54,875,889 (GRCm39) |
I227V |
probably benign |
Het |
Dnah6 |
A |
G |
6: 73,069,161 (GRCm39) |
F2509L |
probably damaging |
Het |
Dusp1 |
A |
G |
17: 26,725,618 (GRCm39) |
I247T |
probably benign |
Het |
Erich6 |
G |
A |
3: 58,529,781 (GRCm39) |
|
probably null |
Het |
Gbp9 |
T |
C |
5: 105,228,072 (GRCm39) |
E570G |
probably damaging |
Het |
Gm5117 |
G |
T |
8: 32,227,947 (GRCm39) |
|
noncoding transcript |
Het |
Gpr37l1 |
A |
G |
1: 135,089,216 (GRCm39) |
V283A |
probably benign |
Het |
Heatr5b |
A |
G |
17: 79,123,767 (GRCm39) |
|
probably benign |
Het |
Ifit1bl2 |
G |
A |
19: 34,596,884 (GRCm39) |
T244I |
probably benign |
Het |
Mcoln1 |
T |
C |
8: 3,557,558 (GRCm39) |
V188A |
possibly damaging |
Het |
Mon1a |
T |
C |
9: 107,779,883 (GRCm39) |
L484P |
probably damaging |
Het |
Mrgprg |
T |
A |
7: 143,318,806 (GRCm39) |
D102V |
probably damaging |
Het |
Mto1 |
T |
A |
9: 78,360,056 (GRCm39) |
S181R |
probably benign |
Het |
Myh11 |
C |
T |
16: 14,095,586 (GRCm39) |
V59I |
probably benign |
Het |
Myo7a |
G |
A |
7: 97,746,909 (GRCm39) |
T163I |
probably damaging |
Het |
Nr4a3 |
A |
C |
4: 48,051,586 (GRCm39) |
Q142H |
possibly damaging |
Het |
Or14c41 |
A |
T |
7: 86,234,647 (GRCm39) |
T55S |
possibly damaging |
Het |
Or2a14 |
A |
G |
6: 43,130,569 (GRCm39) |
E110G |
probably damaging |
Het |
Or2y15 |
A |
G |
11: 49,351,270 (GRCm39) |
I255V |
probably benign |
Het |
Or8b8 |
A |
G |
9: 37,809,359 (GRCm39) |
I220V |
probably benign |
Het |
Pkd1l2 |
A |
G |
8: 117,748,595 (GRCm39) |
S1859P |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,396,378 (GRCm39) |
T1967A |
probably benign |
Het |
Plppr3 |
C |
T |
10: 79,701,795 (GRCm39) |
R349Q |
probably damaging |
Het |
Ppp2r5d |
A |
G |
17: 46,996,443 (GRCm39) |
|
probably null |
Het |
Prl2c2 |
C |
T |
13: 13,176,828 (GRCm39) |
C33Y |
probably damaging |
Het |
Prl3d2 |
T |
A |
13: 27,306,438 (GRCm39) |
L55* |
probably null |
Het |
Ralgapb |
C |
T |
2: 158,277,385 (GRCm39) |
R250C |
probably damaging |
Het |
Scamp3 |
C |
T |
3: 89,086,441 (GRCm39) |
P63S |
probably benign |
Het |
Slc22a6 |
A |
G |
19: 8,598,572 (GRCm39) |
I210V |
possibly damaging |
Het |
Stard13 |
T |
A |
5: 151,113,417 (GRCm39) |
H48L |
probably benign |
Het |
Tm6sf2 |
G |
A |
8: 70,530,565 (GRCm39) |
R215H |
probably damaging |
Het |
Twist2 |
T |
C |
1: 91,729,650 (GRCm39) |
L101P |
probably damaging |
Het |
Uvrag |
A |
G |
7: 98,537,720 (GRCm39) |
S492P |
probably benign |
Het |
Zan |
T |
C |
5: 137,450,712 (GRCm39) |
T1622A |
unknown |
Het |
Zswim2 |
T |
A |
2: 83,745,690 (GRCm39) |
T583S |
probably benign |
Het |
|
Other mutations in Fam186b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01729:Fam186b
|
APN |
15 |
99,178,132 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
2013-10-07 |