Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02531:Fam83b'

297319

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: 0.081) question?

Stock #

IGL02531

Quality Score

Status

Chromosome

Chromosomal Location

76490054-76567116 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76492000 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 607 (E607G)

Ref Sequence

ENSEMBL: ENSMUSP00000139354 (fasta)

Gene Model

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

AlphaFold

Q0VBM2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098546
AA Change: E607G

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000096146
Gene: ENSMUSG00000032358
AA Change: E607G

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

possibly damaging
Transcript: ENSMUST00000183437
AA Change: E607G

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139354
Gene: ENSMUSG00000032358
AA Change: E607G

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	C	A	6: 86,956,447	H467N	unknown	Het
Alb	A	G	5: 90,467,448	D273G	probably damaging	Het
Arap3	A	G	18: 37,989,751	S531P	probably damaging	Het
Bmpr2	T	A	1: 59,845,714		probably null	Het
Chd7	G	A	4: 8,854,134	R1902H	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cyp2b13	A	T	7: 26,061,605	H29L	possibly damaging	Het
Enpp5	G	T	17: 44,080,952	V91F	probably damaging	Het
Fam210b	T	C	2: 172,352,755	Y176H	probably damaging	Het
Gm4788	T	C	1: 139,774,569	K59R	probably benign	Het
Hhla1	C	T	15: 65,967,407		probably benign	Het
Kdm3b	A	G	18: 34,795,729	T178A	probably benign	Het
Klf1	T	A	8: 84,904,808	F334I	probably damaging	Het
Klra8	A	G	6: 130,118,970	S220P	possibly damaging	Het
Medag	A	G	5: 149,422,151	N99S	probably benign	Het
Muc6	T	C	7: 141,636,940	T2607A	possibly damaging	Het
Mug2	T	G	6: 122,072,771	L921R	probably damaging	Het
Nacad	T	C	11: 6,598,580	N1385D	possibly damaging	Het
Nin	A	G	12: 70,020,932	F1983L	probably benign	Het
Nipal4	T	C	11: 46,151,325	I176M	probably damaging	Het
Orc6	T	C	8: 85,303,369	S47P	probably damaging	Het
Ovch2	C	T	7: 107,790,198	C341Y	probably damaging	Het
Polq	T	A	16: 37,062,374	H1633Q	possibly damaging	Het
Rab23	T	C	1: 33,738,280		probably benign	Het
Rai14	A	G	15: 10,574,782	S697P	probably damaging	Het
Rnf213	T	C	11: 119,436,802	F1872L	probably benign	Het
Sdhc	T	C	1: 171,136,018	H127R	probably damaging	Het
Snx9	T	C	17: 5,891,820	V74A	probably benign	Het
Spata31d1d	A	G	13: 59,727,934	S596P	possibly damaging	Het
Syt14	T	C	1: 192,901,934	*78W	probably null	Het
Thoc1	A	G	18: 9,970,258	T203A	probably benign	Het
Trmt13	A	G	3: 116,592,191		probably null	Het
Ttc28	A	G	5: 111,225,850	I1020V	probably damaging	Het
Vmn2r16	A	G	5: 109,340,268	T336A	probably damaging	Het

Other mutations in Fam83b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Fam83b	APN	9	76490978	missense	probably benign	0.00
IGL01554:Fam83b	APN	9	76502121	missense	probably benign	0.33
IGL01694:Fam83b	APN	9	76490990	missense	probably benign	0.13
IGL02009:Fam83b	APN	9	76492322	missense	probably damaging	1.00
IGL03328:Fam83b	APN	9	76493042	missense	probably benign	0.01
PIT4581001:Fam83b	UTSW	9	76491152	missense	probably damaging	1.00
R0110:Fam83b	UTSW	9	76492826	missense	possibly damaging	0.75
R0469:Fam83b	UTSW	9	76492826	missense	possibly damaging	0.75
R0510:Fam83b	UTSW	9	76492826	missense	possibly damaging	0.75
R0732:Fam83b	UTSW	9	76492928	nonsense	probably null
R0946:Fam83b	UTSW	9	76491397	missense	probably damaging	0.96
R0961:Fam83b	UTSW	9	76491295	missense	probably damaging	0.97
R1101:Fam83b	UTSW	9	76545670	missense	possibly damaging	0.68
R1200:Fam83b	UTSW	9	76492312	missense	probably damaging	1.00
R1248:Fam83b	UTSW	9	76503076	missense	probably benign	0.35
R1420:Fam83b	UTSW	9	76492612	missense	possibly damaging	0.94
R1429:Fam83b	UTSW	9	76492577	missense	probably benign
R1939:Fam83b	UTSW	9	76493080	missense	probably damaging	1.00
R1992:Fam83b	UTSW	9	76492022	missense	probably benign
R2102:Fam83b	UTSW	9	76492705	missense	probably damaging	0.96
R2134:Fam83b	UTSW	9	76491016	missense	probably damaging	1.00
R2398:Fam83b	UTSW	9	76502218	missense	probably damaging	1.00
R2878:Fam83b	UTSW	9	76490810	missense	probably damaging	1.00
R4092:Fam83b	UTSW	9	76491661	missense	probably benign	0.24
R4204:Fam83b	UTSW	9	76503053	missense	probably benign	0.09
R4537:Fam83b	UTSW	9	76492142	missense	probably benign	0.10
R4920:Fam83b	UTSW	9	76491868	missense	probably benign
R5456:Fam83b	UTSW	9	76492595	missense	probably benign
R5473:Fam83b	UTSW	9	76491500	missense	probably damaging	1.00
R5488:Fam83b	UTSW	9	76545599	missense	probably benign	0.05
R5489:Fam83b	UTSW	9	76545599	missense	probably benign	0.05
R5876:Fam83b	UTSW	9	76491850	missense	possibly damaging	0.92
R6150:Fam83b	UTSW	9	76492357	missense	probably damaging	1.00
R6374:Fam83b	UTSW	9	76492907	missense	probably benign	0.31
R6468:Fam83b	UTSW	9	76502131	nonsense	probably null
R6912:Fam83b	UTSW	9	76490932	missense	probably damaging	0.99
R7022:Fam83b	UTSW	9	76502112	frame shift	probably null
R7073:Fam83b	UTSW	9	76545749	missense	probably benign	0.18
R7356:Fam83b	UTSW	9	76492853	missense	probably benign	0.05
R7665:Fam83b	UTSW	9	76490875	missense	probably damaging	1.00
R7762:Fam83b	UTSW	9	76492432	missense	possibly damaging	0.87
R7790:Fam83b	UTSW	9	76492048	missense	probably benign	0.01
R7869:Fam83b	UTSW	9	76492144	missense	possibly damaging	0.78
R7879:Fam83b	UTSW	9	76492455	missense	possibly damaging	0.76
R7957:Fam83b	UTSW	9	76491985	missense	probably benign	0.00
R8067:Fam83b	UTSW	9	76491098	missense	probably benign
R8983:Fam83b	UTSW	9	76493075	missense	probably damaging	1.00
R9361:Fam83b	UTSW	9	76492794	missense	probably benign	0.03
R9405:Fam83b	UTSW	9	76491421	missense	possibly damaging	0.93
R9475:Fam83b	UTSW	9	76491803	missense	probably benign	0.31
R9656:Fam83b	UTSW	9	76545581	missense	probably benign	0.02
R9690:Fam83b	UTSW	9	76491220	missense	probably benign	0.00

Posted On

2015-04-16