Mutagenetix > Incidental Mutation

Incidental Mutation 'R0961:Fam83b'

81889

Institutional Source

Beutler Lab

Gene Symbol

Fam83b

Ensembl Gene

ENSMUSG00000032358

Gene Name

family with sequence similarity 83, member B

Synonyms

C530008M07Rik

MMRRC Submission

039090-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R0961 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76490054-76567116 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76491295 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 842 (I842N)

Ref Sequence

ENSEMBL: ENSMUSP00000139354 (fasta)

Gene Model

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

AlphaFold

Q0VBM2

Predicted Effect

probably damaging
Transcript: ENSMUST00000098546
AA Change: I842N

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096146
Gene: ENSMUSG00000032358
AA Change: I842N

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 damaging
Transcript: ENSMUST00000183437
AA Change: I842N

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139354
Gene: ENSMUSG00000032358
AA Change: I842N

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

0.1232

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 95.6%
20x: 89.7%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	C	2: 151,472,766	S331A	probably benign	Het
4930433I11Rik	A	T	7: 40,993,056	T141S	probably benign	Het
4933412E24Rik	T	C	15: 60,015,311	I427V	probably benign	Het
Abca15	A	T	7: 120,360,985	K664*	probably null	Het
Adcy8	A	G	15: 64,754,862	V709A	possibly damaging	Het
Aox2	T	A	1: 58,310,071	D665E	probably benign	Het
Arhgap22	C	T	14: 33,367,113	T352M	probably damaging	Het
Atg9a	G	A	1: 75,186,746	L237F	probably damaging	Het
Ccdc178	T	G	18: 22,019,041	K672T	possibly damaging	Het
Ccdc63	T	G	5: 122,110,946	K440T	possibly damaging	Het
Cd55b	A	T	1: 130,414,076	W275R	probably damaging	Het
Col4a3	T	C	1: 82,708,576		probably benign	Het
Dmpk	C	G	7: 19,087,270	D204E	probably damaging	Het
Egfr	T	C	11: 16,862,964	V148A	probably damaging	Het
F11	A	T	8: 45,241,494	V610E	probably damaging	Het
Fbxw9	T	C	8: 85,062,029	Y165H	probably benign	Het
Fzd6	C	T	15: 39,025,678	L64F	probably damaging	Het
Galntl6	A	T	8: 58,911,340	H45Q	probably benign	Het
Gbp7	C	A	3: 142,541,557	S276*	probably null	Het
Gnb5	A	T	9: 75,335,651	I168F	probably damaging	Het
Gon4l	T	C	3: 88,898,096		probably benign	Het
Gpat4	C	T	8: 23,180,911	C95Y	probably damaging	Het
Gstm7	T	A	3: 107,926,986		probably benign	Het
Hyal4	A	G	6: 24,755,746		probably benign	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Kank4	G	A	4: 98,756,519	R999W	probably benign	Het
Kdm2a	A	G	19: 4,329,191	V92A	probably benign	Het
Klhl9	T	C	4: 88,721,737	D89G	probably benign	Het
Klre1	A	G	6: 129,582,415	T103A	probably benign	Het
Lamc1	CGCTGGC	CGC	1: 153,221,646		probably null	Het
Lamc1	G	T	1: 153,221,700	L1533I	probably benign	Het
Lca5l	T	C	16: 96,161,360	H455R	possibly damaging	Het
Lmo7	C	A	14: 101,794,269	T33K	probably benign	Het
Lrig1	A	G	6: 94,663,914		probably benign	Het
Mep1b	T	A	18: 21,088,729	Y245*	probably null	Het
Mettl24	A	G	10: 40,810,619	T331A	possibly damaging	Het
Mycbp2	A	C	14: 103,184,835	D2467E	probably damaging	Het
Myo15b	T	C	11: 115,882,454	S1871P	probably benign	Het
Ncbp1	T	C	4: 46,165,193	L502P	possibly damaging	Het
Npr1	T	C	3: 90,458,721	N588D	possibly damaging	Het
Olfr1008	A	T	2: 85,689,446	T6S	probably benign	Het
Olfr130	T	A	17: 38,067,923	Y251N	probably damaging	Het
Oxtr	C	T	6: 112,477,177	R42Q	probably benign	Het
Phactr4	A	G	4: 132,378,420	S112P	probably benign	Het
R3hdm1	C	T	1: 128,193,596	T279I	probably benign	Het
Rere	A	G	4: 150,615,372		probably benign	Het
Ryr1	T	A	7: 29,009,697	E4779V	unknown	Het
Sh2d4b	A	G	14: 40,874,182	V81A	probably benign	Het
Slc10a5	T	C	3: 10,334,424	H392R	probably benign	Het
Slc26a4	T	C	12: 31,535,619	T477A	probably benign	Het
Spata31d1b	T	C	13: 59,717,804	V922A	possibly damaging	Het
Sptan1	T	A	2: 29,980,063		probably null	Het
Stard9	A	G	2: 120,693,439	D705G	probably benign	Het
Tdpoz3	T	A	3: 93,826,881	S288T	probably benign	Het
Tsga10	A	G	1: 37,761,428		probably null	Het
Usp18	G	A	6: 121,261,493	A200T	probably benign	Het
Zfp759	A	T	13: 67,139,863	T493S	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TGAGCTGATCTCCTTGGAATCCCG -3'
(R):5'- TGCTCAAAAGGCGCAGTTTCCC -3'

Sequencing Primer
(F):5'- GGAGAAGGCGCTATTCTTCT -3'
(R):5'- AGGTTATCGAGAGAGACCCTCC -3'

Posted On

2013-11-08