Incidental Mutation 'R5759:Fam186b'
| ID |
445209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam186b
|
| Ensembl Gene |
ENSMUSG00000078907 |
| Gene Name |
family with sequence similarity 186, member B |
| Synonyms |
EG545136 |
| MMRRC Submission |
043361-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5759 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
99168899-99193769 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 99177598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 576
(Y576S)
|
| 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: Y576S
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000104728
Gene: ENSMUSG00000078907
AA Change: Y576S
| 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: 99.5%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,774,419 (GRCm39) |
S1203P |
probably benign |
Het |
| Adamts1 |
A |
G |
16: 85,594,936 (GRCm39) |
V341A |
possibly damaging |
Het |
| Arf2 |
G |
A |
11: 103,874,459 (GRCm39) |
G144S |
probably benign |
Het |
| Atr |
A |
G |
9: 95,756,455 (GRCm39) |
N862D |
probably benign |
Het |
| Cep295nl |
T |
C |
11: 118,224,472 (GRCm39) |
H124R |
possibly damaging |
Het |
| Chd6 |
C |
T |
2: 160,825,682 (GRCm39) |
V1141I |
possibly damaging |
Het |
| Chst5 |
C |
A |
8: 112,616,842 (GRCm39) |
K259N |
probably benign |
Het |
| Dchs1 |
T |
A |
7: 105,413,383 (GRCm39) |
D1144V |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,282,792 (GRCm39) |
Y2795C |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,316,280 (GRCm39) |
N3131S |
probably damaging |
Het |
| Dnah7c |
G |
A |
1: 46,654,527 (GRCm39) |
G1436R |
probably damaging |
Het |
| Emp2 |
T |
A |
16: 10,102,374 (GRCm39) |
Y146F |
probably damaging |
Het |
| Exoc6 |
C |
T |
19: 37,562,189 (GRCm39) |
Q148* |
probably null |
Het |
| Fam13b |
T |
C |
18: 34,630,488 (GRCm39) |
D90G |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,857,775 (GRCm39) |
V2023A |
probably benign |
Het |
| Grm5 |
A |
C |
7: 87,675,808 (GRCm39) |
M441L |
probably damaging |
Het |
| Hhatl |
A |
G |
9: 121,617,343 (GRCm39) |
Y297H |
probably damaging |
Het |
| Ifi30 |
A |
G |
8: 71,219,188 (GRCm39) |
|
probably benign |
Het |
| Ing2 |
G |
T |
8: 48,122,040 (GRCm39) |
N169K |
possibly damaging |
Het |
| Kat6a |
T |
G |
8: 23,428,028 (GRCm39) |
S1128A |
probably benign |
Het |
| Madd |
T |
C |
2: 90,992,420 (GRCm39) |
E1041G |
possibly damaging |
Het |
| Mcm3 |
CT |
CTT |
1: 20,878,972 (GRCm39) |
|
probably null |
Het |
| Mfsd5 |
G |
A |
15: 102,189,513 (GRCm39) |
G295D |
possibly damaging |
Het |
| Minar1 |
A |
T |
9: 89,483,125 (GRCm39) |
N757K |
probably benign |
Het |
| Mmp20 |
T |
A |
9: 7,628,378 (GRCm39) |
|
probably null |
Het |
| Mybphl |
T |
C |
3: 108,282,070 (GRCm39) |
V100A |
probably benign |
Het |
| Ndfip2 |
T |
A |
14: 105,539,750 (GRCm39) |
|
probably null |
Het |
| Or7e170 |
A |
G |
9: 19,795,484 (GRCm39) |
V39A |
probably benign |
Het |
| Or7e175 |
T |
A |
9: 20,049,228 (GRCm39) |
V272E |
probably benign |
Het |
| Or8b1c |
T |
A |
9: 38,384,831 (GRCm39) |
S263T |
possibly damaging |
Het |
| Phf19 |
T |
G |
2: 34,787,135 (GRCm39) |
D443A |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 123,234,394 (GRCm39) |
V84A |
probably damaging |
Het |
| Septin9 |
A |
G |
11: 117,243,094 (GRCm39) |
I94V |
probably benign |
Het |
| Slc35a1 |
C |
A |
4: 34,675,032 (GRCm39) |
V132L |
probably benign |
Het |
| Sntg1 |
G |
A |
1: 8,484,494 (GRCm39) |
S442L |
probably benign |
Het |
| Tcf25 |
A |
G |
8: 124,108,196 (GRCm39) |
T84A |
probably benign |
Het |
| Tchhl1 |
C |
G |
3: 93,378,863 (GRCm39) |
S522R |
probably damaging |
Het |
| Tmem106b |
A |
G |
6: 13,075,041 (GRCm39) |
E76G |
probably damaging |
Het |
| Tnk2 |
C |
T |
16: 32,499,482 (GRCm39) |
P932S |
probably benign |
Het |
| Trib1 |
G |
A |
15: 59,526,350 (GRCm39) |
V307I |
probably benign |
Het |
| Trib3 |
A |
T |
2: 152,185,215 (GRCm39) |
D11E |
probably benign |
Het |
| Trim34b |
T |
C |
7: 103,980,640 (GRCm39) |
S243P |
possibly damaging |
Het |
| Vmn2r50 |
A |
G |
7: 9,781,905 (GRCm39) |
I280T |
probably damaging |
Het |
| Zfp1010 |
A |
T |
2: 176,956,765 (GRCm39) |
C244* |
probably null |
Het |
| Zfp445 |
G |
T |
9: 122,682,211 (GRCm39) |
Q577K |
probably benign |
Het |
| Zfp599 |
T |
C |
9: 22,160,957 (GRCm39) |
K403E |
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 |
|
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'- GTAGACCTTGTCCTTAGGTGTCCC -3'
(R):5'- CTTCAGCGGCAGAAGAAGTG -3'
Sequencing Primer
(F):5'- TTGCTGCAGAGAGACCTGG -3'
(R):5'- AAGAAGTGGGCCCTGCTG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation