Incidental Mutation 'R1575:Fam186b'
ID |
171129 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam186b
|
Ensembl Gene |
ENSMUSG00000078907 |
Gene Name |
family with sequence similarity 186, member B |
Synonyms |
EG545136 |
MMRRC Submission |
039613-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1575 (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 99184852 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 24
(T24A)
|
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: T24A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000104728 Gene: ENSMUSG00000078907 AA Change: T24A
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: 98.2%
- 10x: 96.0%
- 20x: 91.5%
|
Validation Efficiency |
100% (72/72) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl2 |
T |
A |
3: 148,558,398 (GRCm39) |
T437S |
probably benign |
Het |
Akna |
A |
G |
4: 63,297,570 (GRCm39) |
F828S |
probably benign |
Het |
Alg9 |
G |
T |
9: 50,686,802 (GRCm39) |
A40S |
possibly damaging |
Het |
Alox8 |
T |
A |
11: 69,076,067 (GRCm39) |
H628L |
possibly damaging |
Het |
Aox3 |
T |
C |
1: 58,191,713 (GRCm39) |
W422R |
probably benign |
Het |
Atp13a4 |
T |
C |
16: 29,228,528 (GRCm39) |
D984G |
probably benign |
Het |
Bcam |
T |
C |
7: 19,494,307 (GRCm39) |
E363G |
possibly damaging |
Het |
Cadps2 |
C |
A |
6: 23,429,217 (GRCm39) |
V519F |
probably damaging |
Het |
Calca |
A |
G |
7: 114,234,396 (GRCm39) |
Y18H |
probably damaging |
Het |
Cd70 |
A |
G |
17: 57,453,364 (GRCm39) |
I100T |
probably damaging |
Het |
Cdk4 |
T |
A |
10: 126,900,520 (GRCm39) |
H95Q |
probably damaging |
Het |
Chchd1 |
T |
A |
14: 20,753,410 (GRCm39) |
N11K |
probably damaging |
Het |
Cma2 |
T |
A |
14: 56,210,272 (GRCm39) |
N52K |
probably damaging |
Het |
Cyp3a16 |
A |
G |
5: 145,373,267 (GRCm39) |
V500A |
probably benign |
Het |
Dicer1 |
A |
G |
12: 104,688,228 (GRCm39) |
|
probably null |
Het |
Dnajc13 |
A |
G |
9: 104,034,037 (GRCm39) |
S2206P |
probably benign |
Het |
Dtl |
T |
C |
1: 191,293,658 (GRCm39) |
|
probably null |
Het |
Fbxw21 |
A |
G |
9: 108,990,984 (GRCm39) |
V25A |
probably benign |
Het |
Gins1 |
T |
C |
2: 150,754,758 (GRCm39) |
S45P |
probably benign |
Het |
Gtpbp2 |
T |
A |
17: 46,476,869 (GRCm39) |
V349D |
probably damaging |
Het |
Hyal5 |
G |
T |
6: 24,876,792 (GRCm39) |
D222Y |
probably damaging |
Het |
Itgal |
A |
G |
7: 126,900,060 (GRCm39) |
|
probably null |
Het |
Klk14 |
A |
G |
7: 43,343,377 (GRCm39) |
|
probably null |
Het |
Lama1 |
T |
A |
17: 68,117,404 (GRCm39) |
L2518Q |
possibly damaging |
Het |
Lrrc2 |
G |
A |
9: 110,808,555 (GRCm39) |
G264D |
probably benign |
Het |
Ltbp4 |
A |
G |
7: 27,022,245 (GRCm39) |
S893P |
probably damaging |
Het |
Mast4 |
G |
A |
13: 102,875,771 (GRCm39) |
P1107L |
probably damaging |
Het |
Mbd1 |
T |
A |
18: 74,408,490 (GRCm39) |
|
probably null |
Het |
Naip2 |
A |
T |
13: 100,291,529 (GRCm39) |
D1136E |
probably benign |
Het |
Naip2 |
G |
A |
13: 100,291,537 (GRCm39) |
|
probably benign |
Het |
Ncan |
G |
A |
8: 70,562,848 (GRCm39) |
T470I |
probably benign |
Het |
Npy1r |
A |
T |
8: 67,156,813 (GRCm39) |
I78F |
probably damaging |
Het |
Or10q1b |
A |
T |
19: 13,682,889 (GRCm39) |
M233L |
probably benign |
Het |
Or8b52 |
G |
A |
9: 38,576,573 (GRCm39) |
T189M |
probably damaging |
Het |
Palb2 |
A |
T |
7: 121,710,061 (GRCm39) |
|
probably null |
Het |
Pax3 |
T |
C |
1: 78,080,121 (GRCm39) |
T422A |
probably benign |
Het |
Pebp1 |
A |
T |
5: 117,424,229 (GRCm39) |
D72E |
possibly damaging |
Het |
Pnliprp1 |
A |
T |
19: 58,728,901 (GRCm39) |
T363S |
probably benign |
Het |
Rbm44 |
G |
A |
1: 91,084,565 (GRCm39) |
|
probably null |
Het |
Rbm47 |
T |
A |
5: 66,182,358 (GRCm39) |
Y425F |
probably benign |
Het |
Robo3 |
G |
T |
9: 37,340,957 (GRCm39) |
A83E |
probably damaging |
Het |
Rrm1 |
A |
G |
7: 102,105,721 (GRCm39) |
Y279C |
probably damaging |
Het |
Rslcan18 |
A |
T |
13: 67,256,121 (GRCm39) |
|
probably benign |
Het |
Scara5 |
C |
A |
14: 65,968,314 (GRCm39) |
Q196K |
probably benign |
Het |
Setd1b |
C |
T |
5: 123,301,210 (GRCm39) |
|
probably benign |
Het |
Siah1a |
A |
G |
8: 87,451,869 (GRCm39) |
F205S |
probably damaging |
Het |
Smr2 |
AT |
ATT |
5: 88,256,683 (GRCm39) |
|
probably null |
Het |
Ssu72 |
A |
G |
4: 155,815,814 (GRCm39) |
D86G |
probably benign |
Het |
St7 |
G |
T |
6: 17,886,110 (GRCm39) |
K357N |
probably damaging |
Het |
Sv2b |
G |
A |
7: 74,797,425 (GRCm39) |
T323I |
probably damaging |
Het |
Syt1 |
T |
C |
10: 108,340,361 (GRCm39) |
N319S |
probably benign |
Het |
Tanc1 |
T |
A |
2: 59,621,995 (GRCm39) |
F371L |
probably damaging |
Het |
Tcf20 |
C |
A |
15: 82,739,693 (GRCm39) |
G586V |
probably benign |
Het |
Tg |
T |
C |
15: 66,601,534 (GRCm39) |
|
probably null |
Het |
Tyk2 |
A |
T |
9: 21,026,758 (GRCm39) |
N620K |
probably benign |
Het |
Ube2j1 |
T |
A |
4: 33,045,116 (GRCm39) |
S130T |
probably benign |
Het |
Ubr2 |
G |
T |
17: 47,243,418 (GRCm39) |
P1696H |
probably damaging |
Het |
Ubr5 |
A |
T |
15: 38,041,085 (GRCm39) |
D266E |
probably damaging |
Het |
Vipr2 |
A |
G |
12: 116,107,892 (GRCm39) |
T426A |
probably benign |
Het |
Vmn2r104 |
A |
T |
17: 20,262,477 (GRCm39) |
W218R |
probably damaging |
Het |
Vmn2r83 |
T |
A |
10: 79,314,956 (GRCm39) |
N401K |
probably damaging |
Het |
Vwf |
A |
G |
6: 125,632,214 (GRCm39) |
E82G |
unknown |
Het |
Vwf |
T |
A |
6: 125,640,534 (GRCm39) |
Y2323* |
probably null |
Het |
Wdr76 |
T |
G |
2: 121,359,402 (GRCm39) |
V329G |
probably damaging |
Het |
Zan |
A |
G |
5: 137,460,214 (GRCm39) |
C1226R |
unknown |
Het |
Zbtb16 |
G |
T |
9: 48,743,572 (GRCm39) |
Q247K |
probably damaging |
Het |
Zfp541 |
T |
C |
7: 15,812,640 (GRCm39) |
V431A |
possibly 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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAGCATTCCGAACTCACCTGTCTG -3'
(R):5'- ACCTGGTGTCTGGCAGTTACTAGAG -3'
Sequencing Primer
(F):5'- GTCTGCAAACCTGGCTTG -3'
(R):5'- GCAGTTACTAGAGGAGCTGTG -3'
|
Posted On |
2014-04-13 |