Incidental Mutation 'R9517:Fam186b'
| ID |
718680 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam186b
|
| Ensembl Gene |
ENSMUSG00000078907 |
| Gene Name |
family with sequence similarity 186, member B |
| Synonyms |
EG545136 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9517 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
99168899-99193769 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 99177616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 570
(A570V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109100]
[ENSMUST00000230608]
|
| AlphaFold |
D3Z420 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109100
AA Change: A570V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104728
Gene: ENSMUSG00000078907
AA Change: A570V
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,113,528 (GRCm39) |
V264E |
probably damaging |
Het |
| Abca15 |
A |
G |
7: 119,987,424 (GRCm39) |
I1237V |
probably benign |
Het |
| Actn2 |
G |
T |
13: 12,295,317 (GRCm39) |
Q552K |
probably damaging |
Het |
| Adnp |
A |
T |
2: 168,024,866 (GRCm39) |
C810S |
possibly damaging |
Het |
| Aip |
A |
T |
19: 4,168,217 (GRCm39) |
I50K |
possibly damaging |
Het |
| Arsk |
A |
G |
13: 76,210,638 (GRCm39) |
S470P |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,407,167 (GRCm39) |
I2018K |
probably damaging |
Het |
| Aspn |
G |
A |
13: 49,705,275 (GRCm39) |
D46N |
|
Het |
| C6 |
G |
T |
15: 4,827,914 (GRCm39) |
C761F |
probably damaging |
Het |
| Cdk12 |
A |
T |
11: 98,109,910 (GRCm39) |
T644S |
unknown |
Het |
| Cela3a |
T |
A |
4: 137,131,825 (GRCm39) |
I123F |
probably damaging |
Het |
| Chchd3 |
A |
T |
6: 33,026,317 (GRCm39) |
S42T |
probably benign |
Het |
| Chst5 |
A |
G |
8: 112,616,652 (GRCm39) |
S323P |
possibly damaging |
Het |
| Clec4g |
C |
A |
8: 3,767,452 (GRCm39) |
A198S |
probably damaging |
Het |
| Dcbld2 |
T |
G |
16: 58,253,819 (GRCm39) |
D185E |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 117,915,440 (GRCm39) |
V4393A |
possibly damaging |
Het |
| Dock9 |
T |
C |
14: 121,829,236 (GRCm39) |
T1392A |
probably benign |
Het |
| Ell2 |
A |
G |
13: 75,912,106 (GRCm39) |
K464R |
possibly damaging |
Het |
| Eme2 |
G |
A |
17: 25,114,033 (GRCm39) |
|
probably benign |
Het |
| Eps8l1 |
T |
A |
7: 4,480,636 (GRCm39) |
I530N |
probably damaging |
Het |
| Fbxw25 |
A |
G |
9: 109,480,892 (GRCm39) |
Y263H |
|
Het |
| Frem1 |
T |
C |
4: 82,901,714 (GRCm39) |
Y938C |
probably damaging |
Het |
| Gdf10 |
A |
G |
14: 33,654,522 (GRCm39) |
D343G |
probably benign |
Het |
| Gm3415 |
C |
T |
5: 146,493,406 (GRCm39) |
R84C |
possibly damaging |
Het |
| Hap1 |
A |
T |
11: 100,240,188 (GRCm39) |
V536D |
possibly damaging |
Het |
| Icos |
T |
C |
1: 61,032,894 (GRCm39) |
F31S |
probably damaging |
Het |
| Inpp5d |
T |
A |
1: 87,638,853 (GRCm39) |
S812T |
probably benign |
Het |
| Kcng4 |
A |
G |
8: 120,353,070 (GRCm39) |
V280A |
probably benign |
Het |
| Ldlr |
T |
C |
9: 21,655,240 (GRCm39) |
V623A |
possibly damaging |
Het |
| Lipc |
T |
C |
9: 70,709,560 (GRCm39) |
T396A |
probably benign |
Het |
| Lrit2 |
T |
A |
14: 36,794,272 (GRCm39) |
C445* |
probably null |
Het |
| Lrrc37 |
G |
A |
11: 103,433,416 (GRCm39) |
T3251I |
unknown |
Het |
| Mcc |
C |
A |
18: 44,794,794 (GRCm39) |
G10C |
probably damaging |
Het |
| Mtfr1l |
T |
C |
4: 134,256,515 (GRCm39) |
T217A |
probably benign |
Het |
| Mtrr |
A |
T |
13: 68,728,730 (GRCm39) |
S23R |
probably benign |
Het |
| Myb |
C |
T |
10: 21,030,612 (GRCm39) |
D62N |
probably benign |
Het |
| Myo7a |
A |
T |
7: 97,721,166 (GRCm39) |
D1255E |
probably damaging |
Het |
| Nfatc1 |
T |
C |
18: 80,725,406 (GRCm39) |
K453E |
probably damaging |
Het |
| Nrap |
A |
T |
19: 56,360,277 (GRCm39) |
M466K |
probably benign |
Het |
| Or10j3 |
C |
A |
1: 173,031,346 (GRCm39) |
A141D |
possibly damaging |
Het |
| Or11g26 |
C |
A |
14: 50,752,770 (GRCm39) |
F36L |
probably benign |
Het |
| Or4c106 |
G |
A |
2: 88,682,947 (GRCm39) |
V218I |
probably benign |
Het |
| Or4f54 |
T |
G |
2: 111,123,033 (GRCm39) |
M140R |
possibly damaging |
Het |
| Or8b41 |
T |
A |
9: 38,054,623 (GRCm39) |
M59K |
probably damaging |
Het |
| Osbpl1a |
A |
G |
18: 13,042,965 (GRCm39) |
V192A |
probably benign |
Het |
| Pgd |
T |
C |
4: 149,249,668 (GRCm39) |
T35A |
possibly damaging |
Het |
| Plcxd3 |
G |
T |
15: 4,405,160 (GRCm39) |
|
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,424,930 (GRCm39) |
D171V |
possibly damaging |
Het |
| Prmt7 |
A |
G |
8: 106,953,930 (GRCm39) |
T124A |
probably damaging |
Het |
| Pzp |
A |
G |
6: 128,489,117 (GRCm39) |
|
probably null |
Het |
| Rilpl2 |
A |
G |
5: 124,607,788 (GRCm39) |
V144A |
probably benign |
Het |
| Rin3 |
T |
C |
12: 102,334,895 (GRCm39) |
S269P |
unknown |
Het |
| Setbp1 |
T |
C |
18: 78,901,322 (GRCm39) |
S782G |
probably damaging |
Het |
| Sgce |
A |
T |
6: 4,694,153 (GRCm39) |
F268I |
probably damaging |
Het |
| Sox6 |
A |
G |
7: 115,111,970 (GRCm39) |
L552S |
possibly damaging |
Het |
| Tent4a |
A |
G |
13: 69,655,059 (GRCm39) |
C472R |
probably damaging |
Het |
| Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
| Vmn1r11 |
A |
G |
6: 57,114,555 (GRCm39) |
D73G |
possibly damaging |
Het |
| Vmn1r39 |
A |
C |
6: 66,782,258 (GRCm39) |
I20R |
possibly damaging |
Het |
| Vmn2r82 |
C |
T |
10: 79,213,641 (GRCm39) |
R76* |
probably null |
Het |
| Zhx1 |
A |
T |
15: 57,915,812 (GRCm39) |
Y811* |
probably null |
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 |
|
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 |
|
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'- GACCTTGTCCTTAGGTGTCC -3'
(R):5'- CTTCAGCGGCAGAAGAAGTG -3'
Sequencing Primer
(F):5'- TTGCTGCAGAGAGACCTGG -3'
(R):5'- AAGAAGTGGGCCCTGCTG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation