Mutagenetix > Incidental Mutations

Incidental Mutation 'R5161:Fam69b'

396976

Institutional Source

Beutler Lab

Gene Symbol

Fam69b

Ensembl Gene

ENSMUSG00000036186

Gene Name

family with sequence similarity 69, member B

Synonyms

B230317C12Rik, PIP49

MMRRC Submission

042743-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R5161 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26628457-26636497 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26636248 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 398 (T398M)

Ref Sequence

ENSEMBL: ENSMUSP00000073860 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074240] [ENSMUST00000174066]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074240
AA Change: T398M

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

SMART Domains

Protein: ENSMUSP00000073860
Gene: ENSMUSG00000036186
AA Change: T398M

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
PIP49_N	22	180	2.18e-90	SMART
Pfam:PIP49_C	197	399	6.4e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082924

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131841

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144449

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153849

Predicted Effect

probably benign
Transcript: ENSMUST00000174066

SMART Domains

Protein: ENSMUSP00000133799
Gene: ENSMUSG00000092356

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	64	88	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181621

Meta Mutation Damage Score

0.1165

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (56/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 63,898,001	E27*	probably null	Het
1700061G19Rik	A	T	17: 56,882,888	I305F	possibly damaging	Het
3110035E14Rik	G	T	1: 9,622,677	G145*	probably null	Het
4930407I10Rik	G	T	15: 82,063,341	E480*	probably null	Het
Acad11	T	C	9: 104,124,028	I591T	probably benign	Het
Adamts13	G	A	2: 26,993,008	E857K	probably benign	Het
Apopt1	C	A	12: 111,722,774	Q97K	possibly damaging	Het
Atf2	A	C	2: 73,829,790		probably null	Het
Cass4	C	A	2: 172,432,324	A675E	probably damaging	Het
Ctsd	A	T	7: 142,377,144	L283Q	probably damaging	Het
Ddrgk1	A	T	2: 130,663,376	M1K	probably null	Het
Dock1	G	A	7: 134,734,062	A62T	possibly damaging	Het
Ehmt1	T	C	2: 24,858,195	D407G	possibly damaging	Het
Eml6	A	G	11: 30,024,467	V37A	probably damaging	Het
Fam20a	C	T	11: 109,673,370	R519Q	probably benign	Het
Fat1	A	G	8: 44,952,512	T767A	probably benign	Het
Fbxl8	A	T	8: 105,268,906	H350L	possibly damaging	Het
Gm10226	A	C	17: 21,691,927	Q23P	possibly damaging	Het
Gm17677	T	A	9: 35,741,588	L42*	probably null	Het
Gm2075	T	A	12: 88,012,117	D90E	possibly damaging	Het
Gm21994	A	T	2: 150,255,215	I98K	probably damaging	Het
Gm38706	A	T	6: 130,482,905		noncoding transcript	Het
Gpatch2l	G	T	12: 86,267,176	R362L	probably benign	Het
H2afy	T	C	13: 56,089,781	D222G	probably benign	Het
Hyal5	A	T	6: 24,891,603	D472V	probably benign	Het
Ighv5-9-1	T	C	12: 113,736,157	S102G	possibly damaging	Het
Itpripl1	A	C	2: 127,141,857	L115R	probably damaging	Het
Itsn1	G	A	16: 91,908,838	C169Y	possibly damaging	Het
Krt88	T	A	15: 101,450,468	C12S	probably benign	Het
Muc4	G	A	16: 32,762,521	V2557M	probably damaging	Het
Myh7b	G	C	2: 155,632,373	R1669S	possibly damaging	Het
Nbeal2	G	T	9: 110,629,868	Q1996K	probably benign	Het
Obscn	T	C	11: 59,028,604	E6205G	probably damaging	Het
Obscn	A	G	11: 59,064,310	Y3926H	possibly damaging	Het
Olfr1436	A	T	19: 12,298,789	S114R	probably damaging	Het
Olfr305	T	C	7: 86,364,338		probably null	Het
P2ry2	A	T	7: 100,998,929	Y56*	probably null	Het
Pde1a	T	C	2: 79,878,144	N242S	probably null	Het
Pik3cg	C	T	12: 32,204,978	E337K	possibly damaging	Het
Plxna2	A	G	1: 194,751,404	N587S	probably benign	Het
Pmpca	T	C	2: 26,395,171		probably null	Het
Ptpn4	C	T	1: 119,707,863	W370*	probably null	Het
Qk	A	T	17: 10,215,490		probably null	Het
Rapgef3	A	G	15: 97,757,725	V427A	probably damaging	Het
Rbbp8	T	G	18: 11,722,114	D465E	probably damaging	Het
Scn2a	A	G	2: 65,764,591	K1928R	probably benign	Het
Slc5a5	A	C	8: 70,888,848	C346G	probably damaging	Het
Spata2l	A	G	8: 123,235,549	L91P	probably damaging	Het
Syt3	C	A	7: 44,396,015	H560N	possibly damaging	Het
Timm23	G	A	14: 32,193,925	P63L	probably damaging	Het
Tmem191c	T	C	16: 17,276,879	S108P	possibly damaging	Het
Ttc21b	A	G	2: 66,229,023	C545R	probably damaging	Het
Ttc23l	G	T	15: 10,551,550	T30K	possibly damaging	Het
Usp17ld	A	T	7: 103,250,372	L451*	probably null	Het
Vmn1r15	T	C	6: 57,258,512	Y122H	probably benign	Het

Other mutations in Fam69b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01927:Fam69b	APN	2	26636115	missense	probably benign	0.00
R0669:Fam69b	UTSW	2	26634866	missense	probably benign	0.00
R1912:Fam69b	UTSW	2	26632704	missense	probably damaging	1.00
R2258:Fam69b	UTSW	2	26635150	missense	probably damaging	0.99
R2760:Fam69b	UTSW	2	26635825	missense	probably benign	0.00
R3712:Fam69b	UTSW	2	26632638	missense	possibly damaging	0.72
R3953:Fam69b	UTSW	2	26635567	missense	probably benign	0.44
R3956:Fam69b	UTSW	2	26635567	missense	probably benign	0.44
R4190:Fam69b	UTSW	2	26636181	missense	probably damaging	1.00
R4213:Fam69b	UTSW	2	26635948	missense	probably benign	0.05
R5618:Fam69b	UTSW	2	26634875	missense	probably damaging	0.99
R6198:Fam69b	UTSW	2	26635698	missense	probably damaging	0.96
R6769:Fam69b	UTSW	2	26634863	missense	probably benign	0.00
R6771:Fam69b	UTSW	2	26634863	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATCTATGGGCGAGATTGCAG -3'
(R):5'- TACATATTCGGAGGATTGGGC -3'

Sequencing Primer
(F):5'- AGATTGCAGGGCCCCATGTG -3'
(R):5'- AGTGGGCCAGCCTCTGATAG -3'

Posted On

2016-06-21