Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00236:Fam83b'

2279

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam83b

Ensembl Gene

ENSMUSG00000032358

Gene Name

family with sequence similarity 83, member B

Synonyms

C530008M07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL00236

Quality Score

Status

Chromosome

Chromosomal Location

76397336-76474398 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76398260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 948 (I948V)

Ref Sequence

ENSEMBL: ENSMUSP00000139354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098546] [ENSMUST00000183437]

AlphaFold

Q0VBM2

Predicted Effect

probably benign
Transcript: ENSMUST00000098546
AA Change: I948V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000096146
Gene: ENSMUSG00000032358
AA Change: I948V

Domain	Start	End	E-Value	Type
Pfam:DUF1669	12	282	5.6e-109	PFAM
Pfam:PLDc_2	139	277	2.4e-12	PFAM
low complexity region	557	574	N/A	INTRINSIC
low complexity region	731	742	N/A	INTRINSIC
low complexity region	747	760	N/A	INTRINSIC
low complexity region	826	846	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183437
AA Change: I948V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139354
Gene: ENSMUSG00000032358
AA Change: I948V

Domain	Start	End	E-Value	Type
Pfam:DUF1669	7	283	2.8e-111	PFAM
Pfam:PLDc_2	139	277	2.4e-9	PFAM
low complexity region	557	574	N/A	INTRINSIC
low complexity region	731	742	N/A	INTRINSIC
low complexity region	747	760	N/A	INTRINSIC
low complexity region	826	846	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh1	A	G	12: 87,490,467 (GRCm39)	V43A	probably damaging	Het
Ankrd17	A	T	5: 90,381,787 (GRCm39)	S2460T	probably damaging	Het
Ap4e1	T	C	2: 126,870,201 (GRCm39)	L176P	probably damaging	Het
Caprin2	A	G	6: 148,744,569 (GRCm39)	I952T	probably damaging	Het
Cdkl4	A	T	17: 80,832,705 (GRCm39)		probably benign	Het
Cfap44	T	C	16: 44,227,767 (GRCm39)	L156P	probably damaging	Het
Dock9	A	G	14: 121,905,880 (GRCm39)	L90S	probably benign	Het
Efhb	T	C	17: 53,769,481 (GRCm39)	D276G	probably damaging	Het
Ep300	A	G	15: 81,525,619 (GRCm39)	D1481G	unknown	Het
Fbxl5	G	T	5: 43,922,678 (GRCm39)	H247N	probably damaging	Het
Fn1	A	G	1: 71,692,032 (GRCm39)	I37T	probably benign	Het
Hfe	C	T	13: 23,889,835 (GRCm39)		probably benign	Het
Ighv1-36	A	T	12: 114,843,770 (GRCm39)	L29Q	possibly damaging	Het
Inpp5e	G	T	2: 26,298,533 (GRCm39)	Q23K	probably benign	Het
L3mbtl1	T	C	2: 162,808,983 (GRCm39)	S619P	probably damaging	Het
Myh8	T	C	11: 67,174,644 (GRCm39)	I253T	probably damaging	Het
Ntrk1	C	T	3: 87,698,745 (GRCm39)	V99M	possibly damaging	Het
Or51s1	T	C	7: 102,558,479 (GRCm39)	H189R	probably damaging	Het
Or5b124	A	T	19: 13,610,903 (GRCm39)	I143F	probably benign	Het
Pard6a	T	C	8: 106,429,446 (GRCm39)	S135P	probably damaging	Het
Prss43	G	T	9: 110,658,538 (GRCm39)	Q279H	probably benign	Het
Ptcd2	T	C	13: 99,466,573 (GRCm39)	N207D	probably benign	Het
Ros1	T	C	10: 52,070,986 (GRCm39)	I23V	probably benign	Het
Scg5	A	G	2: 113,657,915 (GRCm39)		probably benign	Het
Sh3bp5	T	A	14: 31,101,347 (GRCm39)	K212*	probably null	Het
Slc25a30	C	T	14: 76,004,365 (GRCm39)	G244D	possibly damaging	Het
Slc38a10	T	C	11: 119,997,428 (GRCm39)	R689G	probably damaging	Het
Spatc1	A	G	15: 76,168,994 (GRCm39)	D321G	probably damaging	Het
Stat4	A	T	1: 52,142,037 (GRCm39)	Y628F	probably damaging	Het
Wdr35	G	A	12: 9,069,900 (GRCm39)	V813I	probably benign	Het

Other mutations in Fam83b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01554:Fam83b	APN	9	76,409,403 (GRCm39)	missense	probably benign	0.33
IGL01694:Fam83b	APN	9	76,398,272 (GRCm39)	missense	probably benign	0.13
IGL02009:Fam83b	APN	9	76,399,604 (GRCm39)	missense	probably damaging	1.00
IGL02531:Fam83b	APN	9	76,399,282 (GRCm39)	missense	possibly damaging	0.61
IGL03328:Fam83b	APN	9	76,400,324 (GRCm39)	missense	probably benign	0.01
PIT4581001:Fam83b	UTSW	9	76,398,434 (GRCm39)	missense	probably damaging	1.00
R0110:Fam83b	UTSW	9	76,400,108 (GRCm39)	missense	possibly damaging	0.75
R0469:Fam83b	UTSW	9	76,400,108 (GRCm39)	missense	possibly damaging	0.75
R0510:Fam83b	UTSW	9	76,400,108 (GRCm39)	missense	possibly damaging	0.75
R0732:Fam83b	UTSW	9	76,400,210 (GRCm39)	nonsense	probably null
R0946:Fam83b	UTSW	9	76,398,679 (GRCm39)	missense	probably damaging	0.96
R0961:Fam83b	UTSW	9	76,398,577 (GRCm39)	missense	probably damaging	0.97
R1101:Fam83b	UTSW	9	76,452,952 (GRCm39)	missense	possibly damaging	0.68
R1200:Fam83b	UTSW	9	76,399,594 (GRCm39)	missense	probably damaging	1.00
R1248:Fam83b	UTSW	9	76,410,358 (GRCm39)	missense	probably benign	0.35
R1420:Fam83b	UTSW	9	76,399,894 (GRCm39)	missense	possibly damaging	0.94
R1429:Fam83b	UTSW	9	76,399,859 (GRCm39)	missense	probably benign
R1939:Fam83b	UTSW	9	76,400,362 (GRCm39)	missense	probably damaging	1.00
R1992:Fam83b	UTSW	9	76,399,304 (GRCm39)	missense	probably benign
R2102:Fam83b	UTSW	9	76,399,987 (GRCm39)	missense	probably damaging	0.96
R2134:Fam83b	UTSW	9	76,398,298 (GRCm39)	missense	probably damaging	1.00
R2398:Fam83b	UTSW	9	76,409,500 (GRCm39)	missense	probably damaging	1.00
R2878:Fam83b	UTSW	9	76,398,092 (GRCm39)	missense	probably damaging	1.00
R4092:Fam83b	UTSW	9	76,398,943 (GRCm39)	missense	probably benign	0.24
R4204:Fam83b	UTSW	9	76,410,335 (GRCm39)	missense	probably benign	0.09
R4537:Fam83b	UTSW	9	76,399,424 (GRCm39)	missense	probably benign	0.10
R4920:Fam83b	UTSW	9	76,399,150 (GRCm39)	missense	probably benign
R5456:Fam83b	UTSW	9	76,399,877 (GRCm39)	missense	probably benign
R5473:Fam83b	UTSW	9	76,398,782 (GRCm39)	missense	probably damaging	1.00
R5488:Fam83b	UTSW	9	76,452,881 (GRCm39)	missense	probably benign	0.05
R5489:Fam83b	UTSW	9	76,452,881 (GRCm39)	missense	probably benign	0.05
R5876:Fam83b	UTSW	9	76,399,132 (GRCm39)	missense	possibly damaging	0.92
R6150:Fam83b	UTSW	9	76,399,639 (GRCm39)	missense	probably damaging	1.00
R6374:Fam83b	UTSW	9	76,400,189 (GRCm39)	missense	probably benign	0.31
R6468:Fam83b	UTSW	9	76,409,413 (GRCm39)	nonsense	probably null
R6912:Fam83b	UTSW	9	76,398,214 (GRCm39)	missense	probably damaging	0.99
R7022:Fam83b	UTSW	9	76,409,394 (GRCm39)	frame shift	probably null
R7073:Fam83b	UTSW	9	76,453,031 (GRCm39)	missense	probably benign	0.18
R7356:Fam83b	UTSW	9	76,400,135 (GRCm39)	missense	probably benign	0.05
R7665:Fam83b	UTSW	9	76,398,157 (GRCm39)	missense	probably damaging	1.00
R7762:Fam83b	UTSW	9	76,399,714 (GRCm39)	missense	possibly damaging	0.87
R7790:Fam83b	UTSW	9	76,399,330 (GRCm39)	missense	probably benign	0.01
R7869:Fam83b	UTSW	9	76,399,426 (GRCm39)	missense	possibly damaging	0.78
R7879:Fam83b	UTSW	9	76,399,737 (GRCm39)	missense	possibly damaging	0.76
R7957:Fam83b	UTSW	9	76,399,267 (GRCm39)	missense	probably benign	0.00
R8067:Fam83b	UTSW	9	76,398,380 (GRCm39)	missense	probably benign
R8983:Fam83b	UTSW	9	76,400,357 (GRCm39)	missense	probably damaging	1.00
R9361:Fam83b	UTSW	9	76,400,076 (GRCm39)	missense	probably benign	0.03
R9405:Fam83b	UTSW	9	76,398,703 (GRCm39)	missense	possibly damaging	0.93
R9475:Fam83b	UTSW	9	76,399,085 (GRCm39)	missense	probably benign	0.31
R9656:Fam83b	UTSW	9	76,452,863 (GRCm39)	missense	probably benign	0.02
R9690:Fam83b	UTSW	9	76,398,502 (GRCm39)	missense	probably benign	0.00

Posted On

2011-12-09