Incidental Mutation 'R2394:Fam186b'
ID |
247927 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam186b
|
Ensembl Gene |
ENSMUSG00000078907 |
Gene Name |
family with sequence similarity 186, member B |
Synonyms |
EG545136 |
MMRRC Submission |
040362-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2394 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
99168899-99193769 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 99178058 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 423
(I423V)
|
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: I423V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000104728 Gene: ENSMUSG00000078907 AA Change: I423V
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
100% (41/41) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020L13Rik |
A |
T |
7: 29,980,053 (GRCm39) |
|
probably benign |
Het |
Abca17 |
T |
C |
17: 24,500,190 (GRCm39) |
|
probably null |
Het |
Atxn7 |
T |
C |
14: 14,100,237 (GRCm38) |
V641A |
probably damaging |
Het |
C3 |
G |
A |
17: 57,529,303 (GRCm39) |
Q30* |
probably null |
Het |
Ccdc162 |
A |
G |
10: 41,445,894 (GRCm39) |
I426T |
probably damaging |
Het |
Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
Cwc27 |
A |
C |
13: 104,932,942 (GRCm39) |
D253E |
probably benign |
Het |
Cyp1a1 |
T |
A |
9: 57,607,432 (GRCm39) |
V20D |
probably benign |
Het |
Dmbt1 |
T |
A |
7: 130,696,464 (GRCm39) |
Y892* |
probably null |
Het |
Dnhd1 |
T |
A |
7: 105,369,438 (GRCm39) |
Y4354N |
probably benign |
Het |
Dync2li1 |
T |
A |
17: 84,952,175 (GRCm39) |
I202K |
possibly damaging |
Het |
Dyrk1a |
T |
A |
16: 94,485,991 (GRCm39) |
V446E |
probably benign |
Het |
Efcab3 |
C |
A |
11: 104,629,121 (GRCm39) |
T933K |
probably benign |
Het |
Gm5108 |
T |
C |
5: 68,132,475 (GRCm39) |
|
probably benign |
Het |
Htr3a |
A |
G |
9: 48,817,643 (GRCm39) |
V110A |
probably benign |
Het |
Itsn2 |
C |
A |
12: 4,757,005 (GRCm39) |
S1365Y |
possibly damaging |
Het |
Lrrc46 |
T |
C |
11: 96,929,657 (GRCm39) |
I60V |
probably damaging |
Het |
Mtrex |
A |
T |
13: 113,019,702 (GRCm39) |
Y803N |
probably benign |
Het |
Nlrp14 |
T |
C |
7: 106,797,031 (GRCm39) |
V307A |
probably benign |
Het |
Nt5c2 |
A |
G |
19: 46,878,506 (GRCm39) |
|
probably null |
Het |
Obox2 |
C |
T |
7: 15,130,935 (GRCm39) |
P56S |
possibly damaging |
Het |
Olfml2b |
A |
G |
1: 170,477,319 (GRCm39) |
I151M |
possibly damaging |
Het |
Oog3 |
T |
A |
4: 143,885,884 (GRCm39) |
D238V |
probably benign |
Het |
Pde11a |
T |
C |
2: 75,889,405 (GRCm39) |
T690A |
probably benign |
Het |
Ppa1 |
A |
G |
10: 61,508,163 (GRCm39) |
|
probably benign |
Het |
Ppfia2 |
A |
G |
10: 106,655,351 (GRCm39) |
E306G |
probably damaging |
Het |
Ppic |
G |
A |
18: 53,544,119 (GRCm39) |
R89C |
probably damaging |
Het |
Ptprk |
T |
G |
10: 28,427,713 (GRCm39) |
I764S |
probably damaging |
Het |
Ripk2 |
T |
C |
4: 16,132,774 (GRCm39) |
|
probably benign |
Het |
Rnf123 |
A |
G |
9: 107,940,735 (GRCm39) |
M702T |
probably benign |
Het |
Slco1b2 |
T |
C |
6: 141,615,100 (GRCm39) |
I335T |
probably damaging |
Het |
Ssbp1 |
T |
A |
6: 40,453,743 (GRCm39) |
D96E |
probably benign |
Het |
Tpp2 |
T |
A |
1: 44,022,346 (GRCm39) |
S915T |
possibly damaging |
Het |
Unc5c |
A |
T |
3: 141,383,892 (GRCm39) |
Q90L |
probably damaging |
Het |
Vmn2r57 |
A |
G |
7: 41,049,619 (GRCm39) |
I710T |
possibly damaging |
Het |
Wdr90 |
G |
A |
17: 26,070,429 (GRCm39) |
P1104L |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACTTCTTCTGCCGCTGAAG -3'
(R):5'- AAAGGACAGGCAGTTTCAGC -3'
Sequencing Primer
(F):5'- TGCCGCTGAAGCCACATC -3'
(R):5'- AGGCAGTTTCAGCTCTCTTTTCAAG -3'
|
Posted On |
2014-11-11 |