Incidental Mutation 'R7141:Fam186b'
ID |
553364 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam186b
|
Ensembl Gene |
ENSMUSG00000078907 |
Gene Name |
family with sequence similarity 186, member B |
Synonyms |
EG545136 |
MMRRC Submission |
045221-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7141 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
99168899-99193769 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 99181773 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 142
(M142L)
|
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: M142L
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000104728 Gene: ENSMUSG00000078907 AA Change: M142L
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
AA Change: M10L
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
100% (56/56) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aamp |
A |
C |
1: 74,323,270 (GRCm39) |
|
probably null |
Het |
Abhd10 |
C |
T |
16: 45,563,169 (GRCm39) |
R29Q |
probably benign |
Het |
Adgrv1 |
A |
G |
13: 81,640,620 (GRCm39) |
Y3369H |
probably benign |
Het |
Agl |
A |
G |
3: 116,546,935 (GRCm39) |
I1305T |
probably benign |
Het |
Apba3 |
A |
G |
10: 81,108,889 (GRCm39) |
I551V |
probably damaging |
Het |
Appbp2 |
A |
T |
11: 85,082,577 (GRCm39) |
Y551* |
probably null |
Het |
Btbd17 |
T |
C |
11: 114,682,641 (GRCm39) |
N357S |
possibly damaging |
Het |
Casp2 |
T |
C |
6: 42,257,329 (GRCm39) |
F426S |
possibly damaging |
Het |
Cdh5 |
A |
G |
8: 104,839,633 (GRCm39) |
N35D |
probably benign |
Het |
Cep350 |
G |
T |
1: 155,790,494 (GRCm39) |
Q1354K |
probably damaging |
Het |
Cep44 |
A |
G |
8: 56,992,886 (GRCm39) |
C243R |
probably damaging |
Het |
Chst4 |
A |
T |
8: 110,757,471 (GRCm39) |
S131T |
probably damaging |
Het |
Cox15 |
T |
C |
19: 43,725,186 (GRCm39) |
N406D |
probably benign |
Het |
Cttnbp2 |
C |
T |
6: 18,380,467 (GRCm39) |
R1467H |
probably benign |
Het |
Dock8 |
A |
G |
19: 25,158,984 (GRCm39) |
D1714G |
probably null |
Het |
Erbb2 |
G |
T |
11: 98,318,135 (GRCm39) |
R457L |
probably damaging |
Het |
Esyt3 |
T |
C |
9: 99,203,493 (GRCm39) |
N463S |
probably benign |
Het |
Fam171a1 |
C |
T |
2: 3,226,189 (GRCm39) |
Q441* |
probably null |
Het |
Git2 |
G |
T |
5: 114,907,759 (GRCm39) |
C35* |
probably null |
Het |
Gm21103 |
T |
G |
14: 17,482,795 (GRCm39) |
Q202P |
probably damaging |
Het |
Gm5622 |
G |
T |
14: 51,893,339 (GRCm39) |
E89* |
probably null |
Het |
Hmcn2 |
C |
A |
2: 31,250,908 (GRCm39) |
T790K |
probably benign |
Het |
Hspg2 |
T |
A |
4: 137,279,427 (GRCm39) |
L3114H |
probably damaging |
Het |
Igkv3-10 |
A |
T |
6: 70,549,965 (GRCm39) |
Q37L |
possibly damaging |
Het |
Kcp |
G |
T |
6: 29,487,511 (GRCm39) |
Y1106* |
probably null |
Het |
Khsrp |
T |
C |
17: 57,332,602 (GRCm39) |
D226G |
possibly damaging |
Het |
Klre1 |
T |
A |
6: 129,560,129 (GRCm39) |
W134R |
probably damaging |
Het |
Lrrc66 |
A |
G |
5: 73,787,320 (GRCm39) |
I10T |
probably benign |
Het |
Map4 |
T |
C |
9: 109,807,938 (GRCm39) |
M1T |
probably null |
Het |
Met |
T |
A |
6: 17,527,154 (GRCm39) |
I535K |
probably benign |
Het |
Mmut |
T |
C |
17: 41,263,730 (GRCm39) |
V500A |
possibly damaging |
Het |
Mrgprb1 |
A |
G |
7: 48,097,435 (GRCm39) |
V159A |
possibly damaging |
Het |
Mrpl41 |
A |
G |
2: 24,864,468 (GRCm39) |
L68P |
probably damaging |
Het |
Mtmr4 |
T |
C |
11: 87,491,439 (GRCm39) |
W135R |
probably damaging |
Het |
Myh10 |
A |
G |
11: 68,692,965 (GRCm39) |
D1420G |
probably benign |
Het |
Naglu |
A |
C |
11: 100,963,056 (GRCm39) |
D229A |
probably benign |
Het |
Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
Ncln |
G |
T |
10: 81,323,683 (GRCm39) |
Y517* |
probably null |
Het |
Nr1h4 |
G |
A |
10: 89,334,091 (GRCm39) |
R100* |
probably null |
Het |
Or5k1 |
G |
A |
16: 58,617,771 (GRCm39) |
T146M |
probably benign |
Het |
P2rx5 |
A |
T |
11: 73,051,474 (GRCm39) |
T18S |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,729,271 (GRCm39) |
S2710P |
unknown |
Het |
Pdhx |
A |
T |
2: 102,903,659 (GRCm39) |
F46I |
probably benign |
Het |
Piezo2 |
A |
T |
18: 63,278,181 (GRCm39) |
L241* |
probably null |
Het |
Pitpnm1 |
G |
A |
19: 4,152,787 (GRCm39) |
V65M |
probably damaging |
Het |
Rgs3 |
A |
G |
4: 62,608,724 (GRCm39) |
D330G |
probably damaging |
Het |
Scaf8 |
T |
C |
17: 3,209,457 (GRCm39) |
V60A |
unknown |
Het |
Sema4c |
A |
G |
1: 36,592,101 (GRCm39) |
Y249H |
probably damaging |
Het |
Spp2 |
T |
C |
1: 88,335,050 (GRCm39) |
Y27H |
probably damaging |
Het |
Sugct |
T |
A |
13: 17,819,372 (GRCm39) |
I158F |
possibly damaging |
Het |
Sympk |
A |
T |
7: 18,788,017 (GRCm39) |
I1178F |
probably benign |
Het |
Tmppe |
T |
C |
9: 114,234,036 (GRCm39) |
Y112H |
probably benign |
Het |
Trp53bp2 |
A |
G |
1: 182,276,073 (GRCm39) |
T187A |
|
Het |
Tspoap1 |
A |
G |
11: 87,665,523 (GRCm39) |
S754G |
probably damaging |
Het |
Vmn1r214 |
C |
T |
13: 23,218,839 (GRCm39) |
A111V |
probably benign |
Het |
Vmn2r70 |
G |
C |
7: 85,208,044 (GRCm39) |
S811C |
probably benign |
Het |
Zfp638 |
T |
C |
6: 83,844,181 (GRCm39) |
S15P |
unknown |
Het |
Zfp763 |
A |
G |
17: 33,237,769 (GRCm39) |
S459P |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AACTGCTTTGTGATCGGCATG -3'
(R):5'- TAGCCAGAGTGCACTGAAAC -3'
Sequencing Primer
(F):5'- ATCGGCATGGCTCGGTTAC -3'
(R):5'- GCCCTCAGGTCTGCTACAC -3'
|
Posted On |
2019-05-15 |