Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02892:Fam76b'

363254

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

Essential gene?

Possibly essential (E-score: 0.536) question?

Stock #

IGL02892

Quality Score

Status

Chromosome

Chromosomal Location

13739012-13766283 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13740117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 50 (E50V)

Ref Sequence

ENSEMBL: ENSMUSP00000062642 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034398] [ENSMUST00000059579] [ENSMUST00000134746] [ENSMUST00000142494] [ENSMUST00000144484] [ENSMUST00000147115] [ENSMUST00000156680] [ENSMUST00000148086]

AlphaFold

Q80XP8

Predicted Effect

probably benign
Transcript: ENSMUST00000034398

SMART Domains

Protein: ENSMUSP00000034398
Gene: ENSMUSG00000031922

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:Cep57_CLD	68	245	9.8e-67	PFAM
low complexity region	259	271	N/A	INTRINSIC
Pfam:Cep57_MT_bd	348	420	2.6e-24	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000059579
AA Change: E50V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000062642
Gene: ENSMUSG00000037808
AA Change: E50V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129861

Predicted Effect

probably benign
Transcript: ENSMUST00000134746

SMART Domains

Protein: ENSMUSP00000116713
Gene: ENSMUSG00000031922

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:Cep57_CLD	68	209	1e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142494

SMART Domains

Protein: ENSMUSP00000114749
Gene: ENSMUSG00000031922

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:Cep57_CLD	68	245	3.3e-72	PFAM
low complexity region	259	271	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144484

SMART Domains

Protein: ENSMUSP00000114940
Gene: ENSMUSG00000031922

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147115

SMART Domains

Protein: ENSMUSP00000116931
Gene: ENSMUSG00000031922

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:Cep57_CLD	68	245	2.1e-72	PFAM
low complexity region	254	275	N/A	INTRINSIC
Pfam:Cep57_MT_bd	319	394	1.3e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000156680
AA Change: E50V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115751
Gene: ENSMUSG00000037808
AA Change: E50V

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

probably benign
Transcript: ENSMUST00000148086

SMART Domains

Protein: ENSMUSP00000114665
Gene: ENSMUSG00000031922

Domain	Start	End	E-Value	Type
Pfam:Cep57_CLD	41	218	1e-71	PFAM
low complexity region	232	244	N/A	INTRINSIC
Pfam:Cep57_MT_bd	318	393	6e-24	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	A	T	12: 84,651,771 (GRCm39)	L493*	probably null	Het
Adam32	T	A	8: 25,368,727 (GRCm39)		probably benign	Het
Alpk1	T	C	3: 127,473,771 (GRCm39)	D744G	possibly damaging	Het
Arhgef12	A	G	9: 42,912,268 (GRCm39)	V530A	possibly damaging	Het
Baz2b	A	T	2: 59,731,080 (GRCm39)	N2095K	probably damaging	Het
Btnl2	A	T	17: 34,581,642 (GRCm39)	Q240L	possibly damaging	Het
Cd96	T	C	16: 45,870,160 (GRCm39)		probably null	Het
Cep350	G	A	1: 155,744,552 (GRCm39)	T2089I	possibly damaging	Het
Chd9	T	C	8: 91,703,543 (GRCm39)		probably benign	Het
Cib4	C	T	5: 30,702,051 (GRCm39)		probably benign	Het
Cilp2	T	C	8: 70,336,970 (GRCm39)	T280A	probably benign	Het
Coq5	T	A	5: 115,432,876 (GRCm39)		probably benign	Het
Cyth3	A	G	5: 143,693,192 (GRCm39)	I339V	possibly damaging	Het
Dcaf7	T	C	11: 105,937,518 (GRCm39)	V47A	possibly damaging	Het
Dcdc2c	A	G	12: 28,585,544 (GRCm39)	I151T	probably benign	Het
Defb7	T	A	8: 19,547,678 (GRCm39)	F61Y	probably benign	Het
Diaph3	T	A	14: 87,104,066 (GRCm39)	K773*	probably null	Het
Dmxl1	A	G	18: 49,992,187 (GRCm39)	N311S	probably damaging	Het
Dnah7b	G	A	1: 46,158,458 (GRCm39)	R347H	possibly damaging	Het
Egflam	C	T	15: 7,319,277 (GRCm39)	V234I	probably benign	Het
Emilin3	C	T	2: 160,751,069 (GRCm39)	V180M	possibly damaging	Het
Fat3	A	T	9: 16,288,858 (GRCm39)	Y222N	probably damaging	Het
Grm7	A	G	6: 111,230,981 (GRCm39)	N468S	probably damaging	Het
Gucy1a2	G	T	9: 3,634,471 (GRCm39)	G172C	probably damaging	Het
Hmcn1	A	C	1: 150,551,725 (GRCm39)		probably null	Het
Hydin	G	A	8: 111,325,591 (GRCm39)	V4667M	possibly damaging	Het
Idh2	T	C	7: 79,745,418 (GRCm39)	S408G	probably benign	Het
Kcng4	T	C	8: 120,359,821 (GRCm39)	Q185R	probably benign	Het
Lamp3	A	G	16: 19,494,802 (GRCm39)	V301A	probably damaging	Het
Lrrc23	T	C	6: 124,751,399 (GRCm39)	N220S	probably benign	Het
Lrrc41	T	A	4: 115,946,032 (GRCm39)	M249K	possibly damaging	Het
Ltbp4	T	A	7: 27,010,074 (GRCm39)	D1162V	probably damaging	Het
Mlh1	T	C	9: 111,082,037 (GRCm39)	I229V	probably benign	Het
Or1o11	T	C	17: 37,756,925 (GRCm39)	L160P	probably damaging	Het
Pgap6	A	G	17: 26,338,094 (GRCm39)	Y466C	probably damaging	Het
Plekhg2	T	A	7: 28,062,342 (GRCm39)	D525V	probably damaging	Het
Plin4	T	C	17: 56,412,108 (GRCm39)	K641R	probably damaging	Het
Plxnb2	A	G	15: 89,045,425 (GRCm39)		probably null	Het
Polr1a	T	C	6: 71,908,680 (GRCm39)	S502P	possibly damaging	Het
Prss16	A	G	13: 22,187,220 (GRCm39)	V450A	probably benign	Het
Prss42	G	A	9: 110,628,458 (GRCm39)	V201M	probably damaging	Het
Pus7	A	T	5: 23,959,554 (GRCm39)	N322K	probably damaging	Het
Riok1	G	T	13: 38,224,041 (GRCm39)		probably benign	Het
Rmdn3	T	A	2: 118,984,561 (GRCm39)	T64S	probably benign	Het
Rmnd5a	T	A	6: 71,391,798 (GRCm39)	M131L	probably benign	Het
Rtbdn	C	T	8: 85,681,718 (GRCm39)	R170C	probably damaging	Het
Sesn3	T	C	9: 14,226,030 (GRCm39)		probably null	Het
Slc2a6	A	G	2: 26,914,305 (GRCm39)	Y271H	probably benign	Het
Slc5a5	T	G	8: 71,345,161 (GRCm39)	T49P	probably damaging	Het
Slc7a10	T	C	7: 34,894,593 (GRCm39)	V84A	possibly damaging	Het
Slc9a4	A	G	1: 40,623,204 (GRCm39)	T148A	possibly damaging	Het
Smg1	T	A	7: 117,767,178 (GRCm39)		probably benign	Het
Snx19	T	A	9: 30,339,660 (GRCm39)	V266E	probably damaging	Het
Synm	T	A	7: 67,384,804 (GRCm39)	I511F	probably damaging	Het
Tango6	T	A	8: 107,468,642 (GRCm39)		probably benign	Het
Tie1	T	A	4: 118,343,479 (GRCm39)	D128V	probably damaging	Het
Timeless	T	C	10: 128,080,120 (GRCm39)	L423P	probably damaging	Het
Tln1	A	G	4: 43,555,679 (GRCm39)	L145P	probably damaging	Het
Trp53i13	A	T	11: 77,399,121 (GRCm39)	D376E	probably damaging	Het
Ubr4	A	T	4: 139,144,642 (GRCm39)	I1484F	probably damaging	Het
Unc13a	C	T	8: 72,102,554 (GRCm39)	V943M	probably damaging	Het
Usp50	T	C	2: 126,611,822 (GRCm39)	K301R	probably damaging	Het
Vmn1r62	G	T	7: 5,679,202 (GRCm39)	M294I	probably benign	Het
Vps39	A	G	2: 120,153,652 (GRCm39)		probably benign	Het
Vwa8	T	A	14: 79,341,140 (GRCm39)		probably benign	Het
Wdr27	A	T	17: 15,096,438 (GRCm39)	W748R	possibly damaging	Het

Other mutations in Fam76b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Fam76b	APN	9	13,748,180 (GRCm39)	missense	possibly damaging	0.76
IGL01346:Fam76b	APN	9	13,741,046 (GRCm39)	missense	probably damaging	1.00
IGL02100:Fam76b	APN	9	13,755,416 (GRCm39)	intron	probably benign
IGL02194:Fam76b	APN	9	13,744,274 (GRCm39)	missense	probably damaging	1.00
IGL02307:Fam76b	APN	9	13,755,332 (GRCm39)	missense	probably damaging	0.98
R1652:Fam76b	UTSW	9	13,747,188 (GRCm39)	missense	probably benign
R1966:Fam76b	UTSW	9	13,739,362 (GRCm39)	splice site	probably null
R3080:Fam76b	UTSW	9	13,744,458 (GRCm39)	missense	probably benign	0.02
R7082:Fam76b	UTSW	9	13,744,308 (GRCm39)	missense	probably damaging	1.00
R8248:Fam76b	UTSW	9	13,742,398 (GRCm39)	missense	probably damaging	1.00
R8402:Fam76b	UTSW	9	13,750,972 (GRCm39)	missense	probably damaging	0.99
R8836:Fam76b	UTSW	9	13,755,381 (GRCm39)	missense	probably benign
R9280:Fam76b	UTSW	9	13,751,012 (GRCm39)	missense	possibly damaging	0.46

Posted On

2015-12-18