Mutagenetix > Incidental Mutation

Incidental Mutation 'R5468:Fam186b'

433374

Institutional Source

Beutler Lab

Gene Symbol

Fam186b

Ensembl Gene

ENSMUSG00000078907

Gene Name

family with sequence similarity 186, member B

Synonyms

EG545136

MMRRC Submission

043029-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5468 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99168899-99193769 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99176751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 713 (I713T)

Ref Sequence

ENSEMBL: ENSMUSP00000104728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109100] [ENSMUST00000230608]

AlphaFold

D3Z420

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109100
AA Change: I713T

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104728
Gene: ENSMUSG00000078907
AA Change: I713T

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: 98.2%
3x: 97.3%
10x: 95.2%
20x: 91.0%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008O03Rik	C	T	7: 44,009,659 (GRCm39)	R181Q	probably damaging	Het
Abca13	T	A	11: 9,244,062 (GRCm39)	L1975Q	probably damaging	Het
Acp2	T	A	2: 91,036,443 (GRCm39)	I180N	probably benign	Het
Adam12	T	C	7: 133,577,202 (GRCm39)	D221G	probably damaging	Het
Adamts4	A	G	1: 171,080,178 (GRCm39)	T244A	probably benign	Het
Adrb2	A	T	18: 62,312,696 (GRCm39)	I43N	probably damaging	Het
Anxa1	A	T	19: 20,355,847 (GRCm39)	Y207N	probably damaging	Het
Apba2	T	C	7: 64,395,510 (GRCm39)	L662P	probably damaging	Het
Arhgap18	T	A	10: 26,788,667 (GRCm39)	I593K	probably damaging	Het
Arsj	T	C	3: 126,232,037 (GRCm39)	V261A	possibly damaging	Het
Atp7b	A	T	8: 22,549,986 (GRCm39)		probably null	Het
C2cd2	C	T	16: 97,669,791 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,384,568 (GRCm39)	S2571T	probably damaging	Het
Cep162	A	C	9: 87,109,290 (GRCm39)	L438V	probably benign	Het
Cfap74	A	T	4: 155,510,498 (GRCm39)	N361I	probably benign	Het
Cntn5	A	G	9: 9,743,633 (GRCm39)	I548T	probably damaging	Het
Cracd	A	T	5: 76,988,610 (GRCm39)		probably benign	Het
Dglucy	A	G	12: 100,816,594 (GRCm39)	N382S	probably benign	Het
Dnah10	C	A	5: 124,907,557 (GRCm39)	N4306K	probably damaging	Het
Fam181a	A	T	12: 103,282,937 (GRCm39)	M281L	probably benign	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fry	A	T	5: 150,323,053 (GRCm39)	Y1068F	probably benign	Het
Fubp3	A	G	2: 31,493,247 (GRCm39)	I231V	probably benign	Het
Gbf1	A	G	19: 46,272,735 (GRCm39)	D1681G	possibly damaging	Het
Gm10999	G	A	8: 129,858,130 (GRCm39)	P5S	probably damaging	Het
Gm12689	T	C	4: 99,184,402 (GRCm39)	I85T	unknown	Het
Impg1	T	C	9: 80,347,318 (GRCm39)	I9V	probably benign	Het
Lama4	A	G	10: 38,948,678 (GRCm39)		probably null	Het
Lamc1	A	G	1: 153,109,310 (GRCm39)	S1161P	probably damaging	Het
Lipm	T	A	19: 34,086,954 (GRCm39)		probably null	Het
Lrrc7	G	T	3: 158,024,073 (GRCm39)	N107K	probably damaging	Het
Lypd8	T	C	11: 58,277,586 (GRCm39)	S123P	probably damaging	Het
Man2a2	T	C	7: 80,002,729 (GRCm39)	D1084G	probably damaging	Het
Man2b2	A	G	5: 36,964,519 (GRCm39)	S1000P	probably benign	Het
Ms4a7	C	T	19: 11,299,778 (GRCm39)	C71Y	probably benign	Het
Mtus1	A	G	8: 41,537,615 (GRCm39)	S34P	probably benign	Het
Myo3b	A	G	2: 70,064,785 (GRCm39)	N406S	probably benign	Het
Nbr1	A	T	11: 101,463,290 (GRCm39)	M586L	probably benign	Het
Nfatc1	C	T	18: 80,693,070 (GRCm39)	R677H	probably benign	Het
Nlrc3	A	C	16: 3,781,899 (GRCm39)	S503R	probably damaging	Het
Nlrp9c	A	T	7: 26,064,425 (GRCm39)	F968I	probably benign	Het
Onecut1	A	T	9: 74,770,614 (GRCm39)	T346S	probably damaging	Het
Or1j12	A	T	2: 36,343,455 (GRCm39)	N286I	probably damaging	Het
Or8b35	G	A	9: 37,904,307 (GRCm39)	C168Y	probably damaging	Het
Or8g32	A	G	9: 39,305,257 (GRCm39)	N57D	probably benign	Het
Pclo	A	T	5: 14,730,966 (GRCm39)	K3156M	unknown	Het
Pigo	C	T	4: 43,024,562 (GRCm39)		probably null	Het
Plcb4	T	C	2: 135,809,072 (GRCm39)	F580S	probably damaging	Het
Plekhm2	G	T	4: 141,355,411 (GRCm39)	P879H	probably damaging	Het
Ppm1e	T	A	11: 87,121,716 (GRCm39)	Y747F	probably benign	Het
Ppwd1	A	G	13: 104,361,952 (GRCm39)	F69L	possibly damaging	Het
Prss27	C	A	17: 24,257,287 (GRCm39)	Q3K	possibly damaging	Het
Prss29	T	A	17: 25,540,020 (GRCm39)	N139K	possibly damaging	Het
Qrich2	T	A	11: 116,339,191 (GRCm39)	T1777S	probably damaging	Het
Rbp3	A	T	14: 33,678,584 (GRCm39)	H844L	possibly damaging	Het
Rubcnl	G	A	14: 75,269,471 (GRCm39)	C43Y	possibly damaging	Het
Sec14l5	A	G	16: 4,985,004 (GRCm39)		probably null	Het
Sepsecs	A	T	5: 52,801,356 (GRCm39)	N435K	probably damaging	Het
Sfrp1	A	G	8: 23,936,226 (GRCm39)	K223E	probably benign	Het
Sh3tc2	G	A	18: 62,106,502 (GRCm39)		probably null	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Tmprss7	A	G	16: 45,476,811 (GRCm39)	F817S	probably damaging	Het
Tril	T	C	6: 53,796,632 (GRCm39)	N197D	probably damaging	Het
Tspan18	T	C	2: 93,040,207 (GRCm39)	T183A	probably benign	Het
Uroc1	A	T	6: 90,315,586 (GRCm39)	M156L	probably benign	Het
Wnt16	T	C	6: 22,291,160 (GRCm39)	V196A	probably benign	Het
Xpnpep1	A	G	19: 52,983,950 (GRCm39)	Y592H	probably benign	Het
Zfp553	T	C	7: 126,836,202 (GRCm39)	S586P	probably benign	Het
Zfp619	C	T	7: 39,185,152 (GRCm39)	A394V	unknown	Het
Zfp985	A	G	4: 147,667,702 (GRCm39)	Y190C	probably benign	Het
Zmynd10	T	A	9: 107,427,536 (GRCm39)	D309E	probably benign	Het
Zmynd15	T	C	11: 70,352,646 (GRCm39)	L73P	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
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

Predicted Primers

PCR Primer
(F):5'- ACCTTAGGGAACATGGCCAC -3'
(R):5'- AGGCATCCGTATGTTGTTTTCC -3'

Sequencing Primer
(F):5'- ACCATGGTGTGCAGGCATTC -3'
(R):5'- ACGTGCAACCCCTCTGC -3'

Posted On

2016-10-06