Mutagenetix > Incidental Mutations

Incidental Mutation 'R2332:Fam186b'

246483

Institutional Source

Beutler Lab

Gene Symbol

Fam186b

Ensembl Gene

ENSMUSG00000078907

Gene Name

family with sequence similarity 186, member B

Synonyms

EG545136

MMRRC Submission

040322-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2332 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99271018-99295888 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99280428 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 339 (E339V)

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: E339V

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104728
Gene: ENSMUSG00000078907
AA Change: E339V

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (47/48)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apc	T	C	18: 34,317,059	I2302T	possibly damaging	Het
Apoa4	G	A	9: 46,242,355	V85I	probably benign	Het
Banf1	C	T	19: 5,365,030	W84*	probably null	Het
Cdk13	A	G	13: 17,718,695	L627P	probably damaging	Het
Cep250	A	G	2: 155,990,607	E1483G	probably damaging	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Ddx60	A	G	8: 62,037,091	E1698G	probably benign	Het
Depdc1a	C	A	3: 159,523,866	Q612K	probably damaging	Het
Dnaja2	G	A	8: 85,540,136	R321C	probably damaging	Het
Fga	T	C	3: 83,031,397	F360L	probably damaging	Het
Fut9	C	T	4: 25,619,823	W330*	probably null	Het
Ghr	T	C	15: 3,320,409	N429S	probably benign	Het
Gm5444	A	T	13: 4,833,625		noncoding transcript	Het
Hjurp	G	C	1: 88,277,215		probably benign	Het
Hoxa5	T	C	6: 52,202,679	I239V	probably damaging	Het
Hps6	T	C	19: 46,004,491	V289A	possibly damaging	Het
Iqcb1	A	G	16: 36,843,439	N190D	possibly damaging	Het
Map3k13	G	A	16: 21,898,677		probably null	Het
Olfr1115	T	C	2: 87,252,873	V312A	possibly damaging	Het
Olfr607	A	G	7: 103,461,086	Y41H	probably damaging	Het
Pacsin1	A	G	17: 27,704,911	E93G	possibly damaging	Het
Pds5a	A	G	5: 65,627,079		probably null	Het
Ppp1r9b	A	T	11: 94,996,609	E482D	probably damaging	Het
Rhobtb3	A	G	13: 75,910,852	S276P	probably benign	Het
Rimbp2	A	G	5: 128,789,641	V538A	probably benign	Het
Rmdn3	A	T	2: 119,153,527		probably benign	Het
Setx	GTGGCT	GT	2: 29,154,061	1814	probably null	Het
Sh3rf1	C	T	8: 61,226,287	P121L	probably benign	Het
Slc4a11	A	T	2: 130,684,459	V855D	probably benign	Het
Speer4f1	C	A	5: 17,479,524	N183K	probably damaging	Het
Sstr4	A	T	2: 148,396,410	N314Y	probably damaging	Het
Synj2	A	G	17: 6,023,794	K288E	probably damaging	Het
Trhde	T	A	10: 114,592,165	N409Y	probably damaging	Het
Ttn	A	T	2: 76,781,139	W15604R	probably damaging	Het
Ugdh	C	T	5: 65,427,484	V32I	possibly damaging	Het
Uhrf1	C	A	17: 56,310,671		probably null	Het
Vps13d	G	T	4: 145,148,686	D1750E	probably benign	Het
Wdfy3	A	G	5: 101,888,323		probably benign	Het
Wnt4	C	A	4: 137,296,520	T266K	probably benign	Het
Wtap	C	T	17: 12,967,538	R374Q	possibly damaging	Het
Zfp322a	A	T	13: 23,357,324	C83S	probably damaging	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
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
R5295:Fam186b	UTSW	15	99283874	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
R9345:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99
R9346:Fam186b	UTSW	15	99279735	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CGTGCCGAAGATTGGCTTTG -3'
(R):5'- GACAAAGTACAAGTACCTGCAG -3'

Sequencing Primer
(F):5'- AAGATTGGCTTTGGGGCTGC -3'
(R):5'- ACCCAGAGGCTGCACTTC -3'

Posted On

2014-10-30