Mutagenetix > Incidental Mutation

Incidental Mutation 'R5295:Fam186b'

405380

Institutional Source

Beutler Lab

Gene Symbol

Fam186b

Ensembl Gene

ENSMUSG00000078907

Gene Name

family with sequence similarity 186, member B

Synonyms

EG545136

MMRRC Submission

042878-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5295 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99271018-99295888 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99283874 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 148 (I148F)

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: I148F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104728
Gene: ENSMUSG00000078907
AA Change: I148F

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

possibly damaging
Transcript: ENSMUST00000230608
AA Change: I16F

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	C	T	18: 65,305,038	E1095K	probably damaging	Het
Alpl	T	C	4: 137,749,608	T245A	probably benign	Het
Ank2	T	C	3: 127,032,183	H378R	probably damaging	Het
Arhgef1	G	A	7: 24,919,352		probably null	Het
Atp5c1	T	C	2: 10,068,733	R10G	possibly damaging	Het
Cbln3	T	C	14: 55,883,463		probably null	Het
Ccr10	C	T	11: 101,174,285	V140M	possibly damaging	Het
Cep135	T	A	5: 76,593,204	H42Q	possibly damaging	Het
Commd5	C	A	15: 76,900,952	T183K	possibly damaging	Het
Dnajc16	T	C	4: 141,767,928	E493G	possibly damaging	Het
Ears2	T	C	7: 122,048,198	R288G	probably damaging	Het
Elovl4	G	A	9: 83,780,661	P273L	possibly damaging	Het
Fryl	T	C	5: 73,112,791	Y79C	probably damaging	Het
Gad1-ps	A	G	10: 99,444,889		noncoding transcript	Het
Gm14325	G	A	2: 177,832,984	H102Y	possibly damaging	Het
Gm8882	T	G	6: 132,361,877	Q126P	unknown	Het
Ighv1-77	T	A	12: 115,861,908	S104C	probably damaging	Het
Kcnv1	T	C	15: 45,114,591	D17G	unknown	Het
Lmtk3	G	A	7: 45,791,298	D243N	probably damaging	Het
Lrrc7	T	A	3: 158,170,739	K571N	probably damaging	Het
Lsm7	T	C	10: 80,854,620	E32G	probably damaging	Het
Ly6f	A	G	15: 75,271,639	Q65R	probably benign	Het
Perm1	T	C	4: 156,217,518	L173P	probably benign	Het
Plvap	T	C	8: 71,511,670	Q16R	probably benign	Het
Prl7d1	A	T	13: 27,709,247	V227D	probably damaging	Het
Prss54	T	C	8: 95,564,478	T165A	probably damaging	Het
Psrc1	A	G	3: 108,386,359	I195V	probably benign	Het
Rnf123	AT	ATT	9: 108,064,003		probably null	Het
Rnf213	A	T	11: 119,440,816	T2284S	probably benign	Het
Serpina3c	T	C	12: 104,148,378	E333G	probably damaging	Het
Serpinb6c	A	G	13: 33,893,817	F190S	probably damaging	Het
Sfmbt1	G	A	14: 30,774,029	D90N	probably damaging	Het
Tdh	T	C	14: 63,496,109	Y110C	probably damaging	Het
Tdrd9	T	A	12: 112,051,912	L1255*	probably null	Het
Trim41	TTCCTCCTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCCTCCTCC	11: 48,816,257		probably benign	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Zbtb2	T	C	10: 4,368,508	K506R	probably damaging	Het
Zmiz1	T	C	14: 25,656,347	L800P	probably damaging	Het
Znhit6	A	G	3: 145,600,493	D251G	probably benign	Het

Other mutations in Fam186b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01362:Fam186b	APN	15	99280318	missense	probably benign	0.00
IGL01729:Fam186b	APN	15	99280251	missense	probably benign	0.02
IGL01948:Fam186b	APN	15	99280446	missense	probably benign	0.00
IGL02133:Fam186b	APN	15	99273703	missense	probably damaging	0.96
IGL03010:Fam186b	APN	15	99280627	missense	possibly damaging	0.80
IGL03371:Fam186b	APN	15	99280377	missense	probably benign	0.00
R0457:Fam186b	UTSW	15	99271285	missense	probably benign	0.02
R0522:Fam186b	UTSW	15	99280519	missense	probably benign	0.00
R0571:Fam186b	UTSW	15	99286953	missense	probably benign	0.02
R0620:Fam186b	UTSW	15	99280128	missense	probably benign	0.34
R1575:Fam186b	UTSW	15	99286971	missense	probably benign	0.00
R1883:Fam186b	UTSW	15	99278798	missense	probably damaging	0.96
R2144:Fam186b	UTSW	15	99280657	missense	probably benign	0.00
R2267:Fam186b	UTSW	15	99285643	missense	probably damaging	0.99
R2332:Fam186b	UTSW	15	99280428	missense	probably benign	0.42
R2394:Fam186b	UTSW	15	99280177	missense	probably benign	0.01
R3624:Fam186b	UTSW	15	99280515	missense	probably benign	0.01
R4681:Fam186b	UTSW	15	99280890	missense	probably benign	0.00
R4811:Fam186b	UTSW	15	99280237	missense	probably benign	0.01
R4906:Fam186b	UTSW	15	99271321	missense	probably damaging	0.99
R5028:Fam186b	UTSW	15	99280801	missense	probably damaging	0.99
R5047:Fam186b	UTSW	15	99280686	missense	probably damaging	1.00
R5440:Fam186b	UTSW	15	99273853	missense	possibly damaging	0.75
R5468:Fam186b	UTSW	15	99278870	missense	possibly damaging	0.93
R5596:Fam186b	UTSW	15	99271289	missense	possibly damaging	0.90
R5759:Fam186b	UTSW	15	99279717	missense	probably benign	0.09
R6239:Fam186b	UTSW	15	99280434	missense	probably benign
R7117:Fam186b	UTSW	15	99285590	missense	probably damaging	0.98
R7141:Fam186b	UTSW	15	99283892	missense	probably benign	0.03
R7223:Fam186b	UTSW	15	99279837	missense	possibly damaging	0.77
R7301:Fam186b	UTSW	15	99278748	missense	probably benign	0.00
R7441:Fam186b	UTSW	15	99280089	missense	probably benign	0.00
R7614:Fam186b	UTSW	15	99286986	missense	probably damaging	1.00
R7825:Fam186b	UTSW	15	99283847	missense	not run
R7853:Fam186b	UTSW	15	99280747	missense	probably damaging	1.00
R8340:Fam186b	UTSW	15	99279714	missense	probably benign	0.02
R8523:Fam186b	UTSW	15	99279732	missense	probably benign	0.00
R8821:Fam186b	UTSW	15	99280852	missense	possibly damaging	0.69
R8939:Fam186b	UTSW	15	99279342	missense	probably benign	0.00
R9016:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9018:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9305:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9341:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9343:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9343:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9345:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9346:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9450:Fam186b	UTSW	15	99285544	missense	probably damaging	0.97
R9464:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9517:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9521:Fam186b	UTSW	15	99280538	missense	probably benign	0.00
R9563:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9565:Fam186b	UTSW	15	99278804	missense	probably damaging	1.00
R9565:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9568:Fam186b	UTSW	15	99278690	missense	probably damaging	1.00
R9652:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9653:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9727:Fam186b	UTSW	15	99273788	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGCTCAGAACTGCTTTGTGATC -3'
(R):5'- GGGGTCTCTAGAGGACAAACTG -3'

Sequencing Primer
(F):5'- ATCGGCATGGCTCGGTTAC -3'
(R):5'- GGACAAACTGTTCTCAGCCTG -3'

Posted On

2016-07-22