Mutagenetix > Incidental Mutation

Incidental Mutation 'R9656:Fam83b'

727331

Institutional Source

Beutler Lab

Gene Symbol

Fam83b

Ensembl Gene

ENSMUSG00000032358

Gene Name

family with sequence similarity 83, member B

Synonyms

C530008M07Rik

Accession Numbers

Is this an essential gene?

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

Stock #

R9656 (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 G at 76545581 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 68 (V68A)

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: V68A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000096146
Gene: ENSMUSG00000032358
AA Change: V68A

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: V68A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000139354
Gene: ENSMUSG00000032358
AA Change: V68A

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: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	G	A	8: 9,987,991	G196E	possibly damaging	Het
Atad5	G	T	11: 80,089,716		probably benign	Het
Atxn2	C	T	5: 121,783,998	T635I	possibly damaging	Het
Bbs10	T	A	10: 111,299,684	N219K	probably benign	Het
Bsn	T	A	9: 108,117,208	T623S	probably benign	Het
Btnl9	T	C	11: 49,169,181	D580G	probably damaging	Het
Cckar	A	G	5: 53,699,976	L364P	probably damaging	Het
Cfap46	A	T	7: 139,655,900	M631K		Het
Col1a1	T	A	11: 94,948,546	S1006T	unknown	Het
Cpe	T	C	8: 64,594,946	Y428C	probably damaging	Het
Cyp2d26	C	A	15: 82,792,858	V122L	probably benign	Het
Fam114a1	T	C	5: 65,005,903	I181T	probably benign	Het
Fanca	A	C	8: 123,304,743	V403G	probably benign	Het
Gm17359	T	A	3: 79,405,876	F86I	probably benign	Het
Gm597	G	T	1: 28,777,455	H499N	probably benign	Het
Grin2a	T	C	16: 9,579,607	H872R	possibly damaging	Het
Grpel2	G	T	18: 61,726,290	R4S	probably benign	Het
Gstm1	T	C	3: 108,017,756	Y7C	probably damaging	Het
Hace1	A	T	10: 45,671,449	I497F	probably benign	Het
Hspg2	T	C	4: 137,551,885	V3093A	probably benign	Het
Ighv3-4	A	T	12: 114,253,675	F99I	possibly damaging	Het
Ints3	T	C	3: 90,392,532	M963V	probably null	Het
Krt12	T	C	11: 99,418,645	E263G		Het
L1td1	T	C	4: 98,733,986	F262L	probably benign	Het
Lrp2bp	A	G	8: 46,013,121	H110R	probably benign	Het
Mcm5	C	T	8: 75,117,540	S313F	probably benign	Het
Ncoa6	A	G	2: 155,432,926	I135T	probably damaging	Het
Nfatc3	G	A	8: 106,104,134	R695H	probably damaging	Het
Nkx1-2	T	A	7: 132,599,499	K10*	probably null	Het
Olfr1278	A	T	2: 111,292,288	T7S	probably benign	Het
Olfr1444	A	G	19: 12,861,883	Y36C	probably damaging	Het
Olfr1464-ps1	T	C	19: 13,282,671	H129R	possibly damaging	Het
Olfr314	G	A	11: 58,786,809	A192T	possibly damaging	Het
Otog	A	G	7: 46,310,143	T719A	probably damaging	Het
Prkdc	T	G	16: 15,799,954	I3216M	probably benign	Het
Pygm	A	G	19: 6,388,157	D252G	probably benign	Het
Rae1	T	A	2: 173,012,797	Y332*	probably null	Het
Rbm12	A	T	2: 156,098,201	D50E	unknown	Het
Rbm6	G	A	9: 107,779,579	R1000W	probably damaging	Het
Rd3l	A	T	12: 111,980,180	V54E	possibly damaging	Het
Rft1	T	C	14: 30,682,757	V370A	probably benign	Het
Rfx8	T	C	1: 39,670,519	I449M	probably benign	Het
Satb1	A	T	17: 51,805,236	S117T	possibly damaging	Het
Slc24a2	T	C	4: 87,049,907	Y370C	probably damaging	Het
Slc5a4b	C	A	10: 76,108,557	V85L	probably damaging	Het
Snrpn	A	T	7: 59,985,967	V95E	possibly damaging	Het
Spata33	A	T	8: 123,222,019	N130I	possibly damaging	Het
Tap1	A	G	17: 34,193,551	S521G	probably damaging	Het
Tbc1d13	C	T	2: 30,142,417	T180I	possibly damaging	Het
Tgm7	G	A	2: 121,109,710		probably benign	Het
Tiam1	A	G	16: 89,867,571	M583T	probably damaging	Het
Ttn	C	T	2: 76,885,013	E7912K	unknown	Het
Vmn1r43	A	T	6: 89,870,458	H15Q	possibly damaging	Het
Wisp2	A	G	2: 163,829,065	D164G	probably benign	Het
Zfp329	A	T	7: 12,810,490	V369E	probably damaging	Het
Zfp467	T	A	6: 48,442,669	E35V	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
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
R9690:Fam83b	UTSW	9	76491220	missense	probably benign	0.00

Predicted Primers

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

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

Posted On

2022-10-06