Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02133:Fam186b'

281079

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam186b

Ensembl Gene

ENSMUSG00000078907

Gene Name

family with sequence similarity 186, member B

Synonyms

EG545136

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02133

Quality Score

Status

Chromosome

Chromosomal Location

99168899-99193769 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99171584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 888 (S888P)

Ref Sequence

ENSEMBL: ENSMUSP00000104728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109100]

AlphaFold

D3Z420

Predicted Effect

probably damaging
Transcript: ENSMUST00000109100
AA Change: S888P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104728
Gene: ENSMUSG00000078907
AA Change: S888P

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

Coding Region Coverage

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530068E07Rik	G	T	11: 52,294,337 (GRCm39)	A193S	probably damaging	Het
Adam4	A	G	12: 81,466,803 (GRCm39)	V606A	probably benign	Het
Atp2c2	A	G	8: 120,481,074 (GRCm39)	I821V	probably benign	Het
Bmi1	A	T	2: 18,688,488 (GRCm39)	R160W	probably damaging	Het
Ccdc198	T	A	14: 49,470,424 (GRCm39)	Q165L	probably benign	Het
Ccdc88c	G	A	12: 100,906,349 (GRCm39)	R1062C	probably damaging	Het
Cntnap3	A	T	13: 64,899,487 (GRCm39)		probably benign	Het
Col20a1	C	T	2: 180,648,937 (GRCm39)	T940I	probably damaging	Het
Csmd3	A	C	15: 47,721,338 (GRCm39)	M1535R	possibly damaging	Het
Dhx38	C	A	8: 110,284,873 (GRCm39)	E487*	probably null	Het
Fancm	G	A	12: 65,153,249 (GRCm39)	G1235D	probably benign	Het
Grin3a	C	T	4: 49,792,946 (GRCm39)	W262*	probably null	Het
Gtdc1	A	T	2: 44,465,455 (GRCm39)	M305K	probably damaging	Het
H2-M9	T	C	17: 36,952,629 (GRCm39)	E139G	possibly damaging	Het
Haus1	A	T	18: 77,854,611 (GRCm39)	L53Q	probably damaging	Het
Hgfac	A	G	5: 35,203,931 (GRCm39)	Y483C	probably damaging	Het
Hipk2	C	T	6: 38,796,069 (GRCm39)	V67I	probably benign	Het
Kbtbd8	T	C	6: 95,098,713 (GRCm39)		probably benign	Het
Kndc1	A	G	7: 139,500,683 (GRCm39)	T683A	probably benign	Het
Ldhb	A	T	6: 142,438,226 (GRCm39)	M277K	probably benign	Het
Mgam	T	C	6: 40,620,010 (GRCm39)	L33P	probably damaging	Het
Ndst1	A	G	18: 60,832,618 (GRCm39)	F571L	probably benign	Het
Neb	G	T	2: 52,102,816 (GRCm39)		probably null	Het
Nrxn1	A	G	17: 90,950,671 (GRCm39)	S503P	probably damaging	Het
Paqr3	A	G	5: 97,243,790 (GRCm39)	V308A	probably benign	Het
Scnn1g	T	C	7: 121,342,922 (GRCm39)	F292L	probably damaging	Het
Stk3	A	G	15: 35,099,662 (GRCm39)	F88S	probably damaging	Het
Tcaf2	T	A	6: 42,604,330 (GRCm39)	E683V	probably benign	Het
Tprkb	T	C	6: 85,904,893 (GRCm39)	V123A	probably benign	Het
Ush2a	T	C	1: 188,175,540 (GRCm39)	Y1213H	probably damaging	Het
Vwa5b1	A	G	4: 138,313,868 (GRCm39)		probably null	Het
Wls	A	G	3: 159,603,007 (GRCm39)	Y140C	probably damaging	Het
Zan	A	G	5: 137,409,760 (GRCm39)	S28P	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
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
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

Posted On

2015-04-16