Mutagenetix > Incidental Mutations

Incidental Mutation 'R1248:Fam83b'

152194

Institutional Source

Beutler Lab

Gene Symbol

Fam83b

Ensembl Gene

ENSMUSG00000032358

Gene Name

family with sequence similarity 83, member B

Synonyms

C530008M07Rik

MMRRC Submission

039315-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R1248 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76490054-76567116 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76503076 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 184 (N184S)

Ref Sequence

ENSEMBL: ENSMUSP00000139354 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000098546
AA Change: N184S

PolyPhen 2 Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000096146
Gene: ENSMUSG00000032358
AA Change: N184S

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: N184S

PolyPhen 2 Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000139354
Gene: ENSMUSG00000032358
AA Change: N184S

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

Meta Mutation Damage Score

0.1562

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.5%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	T	10: 10,395,310	F863Y	probably damaging	Het
Akap12	A	G	10: 4,353,847	E219G	probably benign	Het
Akr1c20	G	A	13: 4,514,400	T38I	possibly damaging	Het
Ap5z1	C	A	5: 142,474,500	S511R	probably benign	Het
Arhgap11a	T	A	2: 113,834,102	H612L	possibly damaging	Het
Atp2b2	G	T	6: 113,817,192	S118Y	probably damaging	Het
Boc	A	T	16: 44,520,473	M38K	probably benign	Het
Ccdc171	A	T	4: 83,681,244	E773D	possibly damaging	Het
Dmtn	C	T	14: 70,612,658		probably benign	Het
Dnah10	G	A	5: 124,755,823		probably benign	Het
Efcab1	A	G	16: 14,924,137	M212V	probably benign	Het
Fam98c	A	G	7: 29,152,840	M98T	probably damaging	Het
Fbn1	T	C	2: 125,301,609	K2867E	probably benign	Het
Fsip2	A	T	2: 82,989,763	E5280V	possibly damaging	Het
Fuom	T	C	7: 140,099,718		probably benign	Het
Gm3476	A	T	14: 6,118,512	S204T	probably benign	Het
Grhl3	A	G	4: 135,561,306	F23L	probably benign	Het
Il4i1	G	T	7: 44,839,789	R334L	probably damaging	Het
Ipo13	A	G	4: 117,901,031	S712P	probably damaging	Het
Lama4	G	T	10: 39,056,847	S573I	probably damaging	Het
Lrp11	A	G	10: 7,604,294	H371R	probably benign	Het
Mkln1	T	A	6: 31,489,368	I520N	probably damaging	Het
Nagpa	G	T	16: 5,198,616	C236*	probably null	Het
Nktr	A	G	9: 121,727,370	N38S	probably damaging	Het
Nlrp10	G	A	7: 108,925,881	R131C	probably benign	Het
Nxpe2	T	C	9: 48,319,911	D386G	possibly damaging	Het
Prpf39	T	A	12: 65,053,966		probably benign	Het
Retreg2	A	G	1: 75,145,111		probably benign	Het
S100a4	G	T	3: 90,605,777	S60I	possibly damaging	Het
Slc12a3	G	T	8: 94,333,277	G184C	probably damaging	Het
Slc25a46	C	T	18: 31,609,754	D20N	possibly damaging	Het
Smc3	A	G	19: 53,634,078	K695E	probably benign	Het
Speer2	A	T	16: 69,857,067		probably null	Het
Taar4	T	G	10: 23,961,038	V182G	possibly damaging	Het
Ttll1	C	G	15: 83,502,125	S93T	probably benign	Het
Ubl3	A	T	5: 148,506,198		probably null	Het
Vmn2r16	A	G	5: 109,360,777	N457S	probably benign	Het
Vmn2r72	T	C	7: 85,749,188	E528G	probably benign	Het
Zfp52	A	C	17: 21,560,049	E53A	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
IGL02531:Fam83b	APN	9	76492000	missense	possibly damaging	0.61
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
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

Predicted Primers

PCR Primer
(F):5'- ACCAAATTGTGGAGTCACTTGCCTG -3'
(R):5'- GTGCTGGAGACCATATTAAGACTTGCC -3'

Sequencing Primer
(F):5'- GTGTCCATGAAATGGAATCACC -3'
(R):5'- GATTCGTCTGAGATAAAGATTCCC -3'

Posted On

2014-01-29