Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00087:Fam76b'

1347

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam76b

Ensembl Gene

ENSMUSG00000037808

Gene Name

family with sequence similarity 76, member B

Synonyms

2810485I05Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.575) question?

Stock #

IGL00087

Quality Score

Status

Chromosome

Chromosomal Location

13827716-13854987 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13836884 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 3 (V3A)

Ref Sequence

ENSEMBL: ENSMUSP00000149169 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059579] [ENSMUST00000156680] [ENSMUST00000213416]

AlphaFold

Q80XP8

Predicted Effect

probably benign
Transcript: ENSMUST00000059579
AA Change: V247A

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000062642
Gene: ENSMUSG00000037808
AA Change: V247A

Domain	Start	End	E-Value	Type
Pfam:FAM76	6	328	8.4e-121	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130106

Predicted Effect

probably benign
Transcript: ENSMUST00000156680

SMART Domains

Protein: ENSMUSP00000115751
Gene: ENSMUSG00000037808

Domain	Start	End	E-Value	Type
low complexity region	148	160	N/A	INTRINSIC
low complexity region	167	191	N/A	INTRINSIC
low complexity region	216	227	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213416
AA Change: V3A

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	C	A	3: 121,679,633		probably benign	Het
4930572O03Rik	C	A	5: 15,656,886		probably benign	Het
Actr2	C	A	11: 20,094,370	V79L	probably benign	Het
Ankrd36	A	C	11: 5,620,131	Y533S	probably benign	Het
Btnl1	A	T	17: 34,381,117	D198V	probably damaging	Het
Carmil2	T	A	8: 105,691,406	I684N	probably benign	Het
Ccdc129	T	A	6: 55,968,037	L581Q	possibly damaging	Het
Cdk17	T	A	10: 93,226,771	V257D	probably damaging	Het
Ctsj	T	G	13: 61,001,418	S271R	possibly damaging	Het
Cul9	T	A	17: 46,525,709	Q1130L	probably damaging	Het
Daam1	G	T	12: 71,942,219	S131I	unknown	Het
Dab1	G	A	4: 104,678,810	V139M	probably damaging	Het
Dab1	A	T	4: 104,678,753	I120F	possibly damaging	Het
Dnah2	A	G	11: 69,492,672	V1142A	possibly damaging	Het
Dsg1b	C	T	18: 20,396,476	T326I	probably damaging	Het
Eif3k	A	C	7: 28,974,676		probably benign	Het
Fitm2	A	G	2: 163,469,792	V167A	probably benign	Het
Gfap	T	A	11: 102,888,718	I418F	possibly damaging	Het
Gm8857	C	T	5: 10,947,838		probably benign	Het
Grm5	T	C	7: 88,130,781	V1143A	probably benign	Het
Itpr2	A	G	6: 146,397,012	I317T	probably damaging	Het
Kcnn2	A	C	18: 45,592,236	R266S	probably damaging	Het
Kntc1	T	A	5: 123,790,159	S1240T	probably benign	Het
Lmnb2	T	C	10: 80,904,037	D490G	possibly damaging	Het
Muc4	G	A	16: 32,754,086	G1321R	probably benign	Het
Olfr401	A	T	11: 74,121,879	I197F	probably benign	Het
Pax9	A	G	12: 56,700,075	N232S	probably benign	Het
Pdcd6ip	A	G	9: 113,697,518	S108P	possibly damaging	Het
Pitpnc1	T	C	11: 107,212,643	E210G	possibly damaging	Het
Prdm10	T	C	9: 31,360,812		probably benign	Het
Prl4a1	G	A	13: 28,021,460	G136E	probably damaging	Het
Pstpip2	A	G	18: 77,874,294	S255G	probably benign	Het
Rimbp3	T	G	16: 17,209,743	S344A	probably benign	Het
Rint1	A	G	5: 23,794,431	T73A	probably benign	Het
Rnf145	T	C	11: 44,555,212	V291A	possibly damaging	Het
Rrm1	T	A	7: 102,454,507	L221*	probably null	Het
Scn11a	A	G	9: 119,770,506	L1114P	probably benign	Het
Slc44a4	A	G	17: 34,930,240		probably benign	Het
Sorl1	A	C	9: 41,974,094	N2070K	probably damaging	Het
Spaca7	C	T	8: 12,580,941		probably benign	Het
Srsf6	G	T	2: 162,931,707	V13F	probably damaging	Het
Stab1	G	T	14: 31,161,357	T336N	probably benign	Het
Strbp	A	G	2: 37,586,504		probably benign	Het
Tbc1d4	A	G	14: 101,608,112	F117L	probably damaging	Het
Tcf20	A	G	15: 82,854,895	V785A	probably damaging	Het
Ticrr	A	G	7: 79,677,283	K580E	probably damaging	Het
Ubr4	A	T	4: 139,465,322	E4225D	possibly damaging	Het
Uck1	A	T	2: 32,259,669	V66D	probably damaging	Het
Vmn2r25	A	G	6: 123,853,171	F7S	probably benign	Het
Zan	C	T	5: 137,387,820		probably null	Het
Zfp819	T	A	7: 43,611,979		probably benign	Het

Other mutations in Fam76b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01346:Fam76b	APN	9	13829750	missense	probably damaging	1.00
IGL02100:Fam76b	APN	9	13844120	intron	probably benign
IGL02194:Fam76b	APN	9	13832978	missense	probably damaging	1.00
IGL02307:Fam76b	APN	9	13844036	missense	probably damaging	0.98
IGL02892:Fam76b	APN	9	13828821	missense	probably null	1.00
R1652:Fam76b	UTSW	9	13835892	missense	probably benign
R1966:Fam76b	UTSW	9	13828066	splice site	probably null
R3080:Fam76b	UTSW	9	13833162	missense	probably benign	0.02
R7082:Fam76b	UTSW	9	13833012	missense	probably damaging	1.00
R8248:Fam76b	UTSW	9	13831102	missense	probably damaging	1.00
R8402:Fam76b	UTSW	9	13839676	missense	probably damaging	0.99
R8836:Fam76b	UTSW	9	13844085	missense	probably benign
R9280:Fam76b	UTSW	9	13839716	missense	possibly damaging	0.46

Posted On

2011-07-12