Mutagenetix > Incidental Mutation

Incidental Mutation 'R5488:Fam83b'

430472

Institutional Source

Beutler Lab

Gene Symbol

Fam83b

Ensembl Gene

ENSMUSG00000032358

Gene Name

family with sequence similarity 83, member B

Synonyms

C530008M07Rik

MMRRC Submission

043049-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R5488 (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 76545599 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 62 (N62S)

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: N62S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000096146
Gene: ENSMUSG00000032358
AA Change: N62S

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: N62S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000139354
Gene: ENSMUSG00000032358
AA Change: N62S

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

0.0627

Coding Region Coverage

1x: 98.2%
3x: 97.2%
10x: 95.1%
20x: 90.5%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	G	7: 131,246,595	D710G	probably damaging	Het
Abca14	T	A	7: 120,252,250	V817D	probably damaging	Het
Abca5	A	G	11: 110,292,183	V1016A	probably benign	Het
Ano2	G	T	6: 126,039,253	M916I	possibly damaging	Het
Aqr	T	C	2: 114,133,073	N632S	probably damaging	Het
Cd48	G	A	1: 171,695,705	V39I	possibly damaging	Het
Cdk17	A	G	10: 93,232,412	T344A	probably damaging	Het
Chd8	A	T	14: 52,213,048		probably benign	Het
Col4a1	A	T	8: 11,312,550		probably benign	Het
Col9a3	G	A	2: 180,616,525	R579H	probably damaging	Het
Cyp2c69	T	G	19: 39,851,159	Q340P	probably null	Het
D630003M21Rik	T	A	2: 158,217,021	T320S	probably benign	Het
D630045J12Rik	A	T	6: 38,196,847	S129T	possibly damaging	Het
Fam13a	A	T	6: 59,024,318	L8Q	probably null	Het
Foxred1	A	T	9: 35,209,970	V94E	probably damaging	Het
Gm1966	T	A	7: 106,601,590		noncoding transcript	Het
Gm8994	C	G	6: 136,329,557	R339G	probably damaging	Het
Gprc5a	T	C	6: 135,078,870	V105A	probably damaging	Het
Itga2	A	T	13: 114,843,435	W1077R	probably damaging	Het
Kat6b	A	G	14: 21,669,264	D1228G	probably damaging	Het
Kctd3	A	G	1: 188,981,366	Y391H	probably damaging	Het
Kdelr2	T	A	5: 143,404,029	I23N	probably damaging	Het
Kmt2a	A	T	9: 44,841,038		probably benign	Het
Lao1	A	G	4: 118,967,369	E216G	probably damaging	Het
Mark4	G	T	7: 19,429,607		probably null	Het
Mcm10	A	G	2: 4,992,118	W851R	probably damaging	Het
Mettl21e	T	C	1: 44,218,116	Y14C	probably benign	Het
Miga1	CACAACAACAACAACAACA	CACAACAACAACAACA	3: 152,333,446		probably benign	Het
Mmp20	A	G	9: 7,643,957		probably null	Het
Nlrp5	A	T	7: 23,417,934	D361V	probably benign	Het
Nrip3	T	C	7: 109,761,838	T210A	probably damaging	Het
Olfr102	T	C	17: 37,313,668	T239A	probably damaging	Het
Olfr591	T	C	7: 103,173,451	Y62C	probably damaging	Het
Pcdh10	G	A	3: 45,381,368	G706S	probably damaging	Het
Pdzd2	G	A	15: 12,382,676	P1197L	probably benign	Het
Pfkfb3	T	C	2: 11,484,669	S273G	probably benign	Het
Pkn3	T	C	2: 30,088,584		probably null	Het
Rab40c	G	A	17: 25,890,669	T78I	probably damaging	Het
Rec8	A	T	14: 55,622,826	Q291L	probably benign	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Sart3	A	G	5: 113,771,380	W86R	probably damaging	Het
Slc6a11	A	G	6: 114,243,894	D462G	probably damaging	Het
Syne2	A	G	12: 75,888,172	T143A	probably benign	Het
Tardbp	A	G	4: 148,618,640	F289S	probably benign	Het
Tdgf1	G	A	9: 110,943,197	R44C	probably benign	Het
Tdpoz1	T	A	3: 93,670,667	Y270F	possibly damaging	Het
Tmem117	ACCC	ACC	15: 95,094,817		probably null	Het
Trim43a	A	T	9: 88,582,176	I47F	probably damaging	Het
Vim	A	T	2: 13,575,581	T202S	probably benign	Het
Vps13b	A	T	15: 35,770,542	I2044L	probably benign	Het
Wdr5	T	G	2: 27,525,153	D192E	probably damaging	Het
Zmym2	A	G	14: 56,956,255	K1176E	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGAGGTCTATGTGGGTACTCC -3'
(R):5'- GCCCAGATGAACATTTGAAAGTTC -3'

Sequencing Primer
(F):5'- CCTAAGAGTCCGGGCATCAC -3'
(R):5'- CATGGAGGCTTCATCAATGC -3'

Posted On

2016-10-05