Mutagenetix > Incidental Mutation

Incidental Mutation 'R5489:Fam83b'

431990

Institutional Source

Beutler Lab

Gene Symbol

Fam83b

Ensembl Gene

ENSMUSG00000032358

Gene Name

family with sequence similarity 83, member B

Synonyms

C530008M07Rik

MMRRC Submission

043050-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R5489 (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: 98.4%
3x: 97.4%
10x: 95.4%
20x: 91.6%

Validation Efficiency

95% (57/60)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	A	T	11: 80,377,952	M1K	probably null	Het
Abca14	T	A	7: 120,252,250	V817D	probably damaging	Het
Aqr	T	C	2: 114,133,073	N632S	probably damaging	Het
Bms1	T	C	6: 118,413,745	T208A	possibly damaging	Het
Brd8	A	T	18: 34,608,645		probably null	Het
Caln1	G	T	5: 130,414,832	R2L	possibly damaging	Het
Cdk17	A	G	10: 93,232,412	T344A	probably damaging	Het
Chd8	A	T	14: 52,213,048		probably benign	Het
Clec14a	A	G	12: 58,268,249	F196L	probably damaging	Het
Clec2f	T	C	6: 129,020,486		noncoding transcript	Het
Col4a1	A	T	8: 11,312,550		probably benign	Het
Col9a3	G	A	2: 180,616,525	R579H	probably damaging	Het
Cyb561	A	G	11: 105,935,523	V202A	probably benign	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
Ddx54	A	G	5: 120,624,721	T636A	probably benign	Het
Dnah8	T	G	17: 30,790,956	F3774V	probably damaging	Het
Ern1	A	G	11: 106,407,529	S674P	probably damaging	Het
Fam13a	A	T	6: 59,024,318	L8Q	probably null	Het
Foxred1	A	T	9: 35,209,970	V94E	probably damaging	Het
Frmd8	T	A	19: 5,852,652	Q457L	probably damaging	Het
Gm1966	T	A	7: 106,601,590		noncoding transcript	Het
Heatr6	A	G	11: 83,774,432	E741G	probably damaging	Het
Hnrnpab	A	G	11: 51,604,813	L133S	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
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Kmt2a	A	T	9: 44,841,038		probably benign	Het
Leap2	T	G	11: 53,422,413	*77C	probably null	Het
Mmp20	A	G	9: 7,643,957		probably null	Het
Mrps9	T	G	1: 42,898,433		probably benign	Het
Muc2	T	C	7: 141,751,432	S158P	probably benign	Het
Mus81	T	C	19: 5,487,889		probably benign	Het
Nrip3	T	C	7: 109,761,838	T210A	probably damaging	Het
Olfr591	T	C	7: 103,173,451	Y62C	probably damaging	Het
Padi2	T	C	4: 140,944,488	F509S	probably damaging	Het
Pcdha12	A	G	18: 37,022,207	T660A	probably benign	Het
Pdzd2	G	A	15: 12,382,676	P1197L	probably benign	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
Slc17a4	A	G	13: 23,898,842		probably null	Het
Tdpoz1	T	A	3: 93,670,667	Y270F	possibly damaging	Het
Thap3	T	A	4: 151,985,652		probably benign	Het
Tmem45a	T	A	16: 56,825,711		probably null	Het
Trim43a	A	T	9: 88,582,176	I47F	probably damaging	Het
Vps13b	A	T	15: 35,770,542	I2044L	probably benign	Het
Zfp735	G	A	11: 73,710,593	W121*	probably null	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
R5488: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'- TGAACATTTGAAAGTTCCCCTCATC -3'

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

Posted On

2016-10-05