Mutagenetix > Incidental Mutation

Incidental Mutation 'R7356:Fam83b'

570976

Institutional Source

Beutler Lab

Gene Symbol

Fam83b

Ensembl Gene

ENSMUSG00000032358

Gene Name

family with sequence similarity 83, member B

Synonyms

C530008M07Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7356 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76490054-76567116 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76492853 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 323 (F323I)

Ref Sequence

ENSEMBL: ENSMUSP00000096146 (fasta)

Gene Model

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

AlphaFold

Q0VBM2

Predicted Effect

probably benign
Transcript: ENSMUST00000098546
AA Change: F323I

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

SMART Domains

Protein: ENSMUSP00000096146
Gene: ENSMUSG00000032358
AA Change: F323I

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: F323I

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

SMART Domains

Protein: ENSMUSP00000139354
Gene: ENSMUSG00000032358
AA Change: F323I

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat2	A	T	4: 49,383,507	D15E	probably damaging	Het
Adamts16	G	A	13: 70,836,280	T88I	probably benign	Het
Akap6	A	C	12: 52,911,864	N801H	probably damaging	Het
Ankfn1	G	T	11: 89,434,773	N524K	probably damaging	Het
Ap5s1	A	G	2: 131,212,662	N131S	probably damaging	Het
Astn2	A	T	4: 66,185,266	D303E	unknown	Het
Babam1	T	C	8: 71,399,564	V132A	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	TGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCAC	TGGTTCTGTGGTCACGGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCAC	3: 95,888,141		probably benign	Het
BC028528	GTTCTGTGGTCACTGGTTCTGTGGTCACTG	GTTCTGTGGTCACTGCTTCTGTGGTCACTGGTTCTGTGGTCACTG	3: 95,888,158		probably benign	Het
BC028528	GGTCACTGGTTCTGT	GGTCACTGGTTCTGTAGTCACTGGTTCTGT	3: 95,888,165		probably benign	Het
BC028528	TCTGTGGTCACTGGT	TCTGTGGTCACTGGTCCTGTGGTCACTGGT	3: 95,888,175		probably benign	Het
BC028528	CACTGGTT	CACTGGTTCTATGGTGACTGGTT	3: 95,888,183		probably benign	Het
Cnst	C	T	1: 179,606,530	P304S	probably benign	Het
Cog4	A	T	8: 110,849,866		probably null	Het
Cyp2j13	A	T	4: 96,077,418	H17Q	probably benign	Het
Ddx58	A	G	4: 40,226,600	S231P	probably benign	Het
Dock6	G	A	9: 21,809,899	T1662I	probably damaging	Het
Dysf	T	C	6: 84,067,461	F270S	probably damaging	Het
Erbb4	A	G	1: 68,339,355		probably null	Het
Fam120b	A	T	17: 15,407,696	Q550L	probably benign	Het
Far1	T	A	7: 113,568,142	I478N	possibly damaging	Het
Gdpd5	T	A	7: 99,458,878	I554N	probably damaging	Het
Glrx3	T	C	7: 137,452,724	S79P	probably damaging	Het
Hltf	T	C	3: 20,109,370	I888T	probably damaging	Het
Hpx	A	G	7: 105,591,710	V452A	probably damaging	Het
Itk	T	G	11: 46,367,832	Q81P	possibly damaging	Het
Kdm6b	G	A	11: 69,402,165	Q1262*	probably null	Het
Lpcat2	T	C	8: 92,864,983	V85A	probably benign	Het
Lrrk2	A	T	15: 91,738,744	H1039L	probably benign	Het
Mapk3	T	C	7: 126,760,915		probably null	Het
Masp1	A	T	16: 23,470,243	N602K	possibly damaging	Het
Myo7a	T	A	7: 98,102,683	Q40L	probably benign	Het
Nek1	A	T	8: 61,120,960	M1081L	probably benign	Het
Nes	T	C	3: 87,977,751	S1106P	possibly damaging	Het
Nkpd1	A	T	7: 19,523,774	I493F	probably damaging	Het
Npsr1	C	G	9: 24,098,261	S21C	probably benign	Het
Olfr1001-ps1	G	A	2: 85,633,438	R3K	probably benign	Het
Olfr175-ps1	A	T	16: 58,824,355	M118K	probably damaging	Het
Olfr738	G	A	14: 50,413,702	V53M	probably damaging	Het
Oog1	G	A	12: 87,606,277		probably null	Het
Osbpl9	G	T	4: 109,068,480	Y340*	probably null	Het
Pcyox1l	A	T	18: 61,707,550	L11Q	probably null	Het
Pdxdc1	G	A	16: 13,860,003	R255C	probably damaging	Het
Pgap1	A	G	1: 54,530,134	S358P	probably benign	Het
Pgm2l1	A	G	7: 100,268,119	Y481C	possibly damaging	Het
Plekhf1	T	C	7: 38,222,121	T8A	possibly damaging	Het
Plg	G	T	17: 12,410,911	G611C	probably damaging	Het
Prf1	A	C	10: 61,303,280	D339A	possibly damaging	Het
Prph	A	G	15: 99,056,926	Y291C	probably damaging	Het
Rasal1	A	G	5: 120,654,825	S48G	possibly damaging	Het
Ripk4	T	A	16: 97,743,149	Q766L	probably damaging	Het
Scaf1	T	C	7: 45,007,784	D557G	unknown	Het
Scaper	A	T	9: 55,892,211	M190K	unknown	Het
Scn8a	A	T	15: 100,957,579	I202F	probably damaging	Het
Siglecf	A	G	7: 43,356,431	I505V	probably benign	Het
Sirpb1c	A	G	3: 15,832,133	S360P	probably benign	Het
Sla2	C	A	2: 156,878,703		probably null	Het
Slc11a1	G	T	1: 74,385,489	V544L	probably benign	Het
Slco1a5	T	A	6: 142,234,732	K648I	probably benign	Het
Sorcs1	T	A	19: 50,175,157	I1020F	possibly damaging	Het
Spen	C	A	4: 141,471,924	E3131*	probably null	Het
Sult2a7	A	T	7: 14,477,106	W162R	probably damaging	Het
Sult3a1	G	A	10: 33,866,583	E69K	probably benign	Het
Tcof1	G	T	18: 60,818,094	D1119E	unknown	Het
Tom1l2	A	T	11: 60,249,027	I272K	probably damaging	Het
Tspan5	C	T	3: 138,742,432		probably benign	Het
Ttn	A	G	2: 76,867,900	L186P		Het
Uap1l1	T	C	2: 25,361,684	E496G	possibly damaging	Het
Ube2v1	A	T	2: 167,609,195	I117N	possibly damaging	Het
Usp42	A	G	5: 143,717,087	V593A	possibly damaging	Het
Virma	T	A	4: 11,513,595	I483N	probably damaging	Het
Vwde	T	A	6: 13,192,642	I421F	probably damaging	Het
Zfp345	G	A	2: 150,472,289	H443Y	probably damaging	Het
Zfp760	A	G	17: 21,722,620	T259A	probably benign	Het
Zfp941	T	C	7: 140,812,115	I444V	possibly damaging	Het
Zfyve9	A	C	4: 108,719,015	S290A	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
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
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'- TGTTCCCCAGCATAGCTATG -3'
(R):5'- TAATCACAGGCCACCTCGTAG -3'

Sequencing Primer
(F):5'- CCAGTTTTCATTGAGCTGACTG -3'
(R):5'- CACTCTATGCTAGGTCCTCT -3'

Posted On

2019-09-13