Mutagenetix > Incidental Mutation

Incidental Mutation 'R7022:Fam83b'

545701

Institutional Source

Beutler Lab

Gene Symbol

Fam83b

Ensembl Gene

ENSMUSG00000032358

Gene Name

family with sequence similarity 83, member B

Synonyms

C530008M07Rik

MMRRC Submission

045123-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R7022 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

76490054-76567116 bp(-) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

TAAGA to T at 76502112 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139354 (fasta)

Gene Model

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

AlphaFold

Q0VBM2

Predicted Effect

probably null
Transcript: ENSMUST00000098546

SMART Domains

Protein: ENSMUSP00000096146
Gene: ENSMUSG00000032358

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 null
Transcript: ENSMUST00000183437

SMART Domains

Protein: ENSMUSP00000139354
Gene: ENSMUSG00000032358

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: 99.7%
20x: 98.9%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 110,083,500 (GRCm38)	S203T	probably damaging	Het
Adat1	A	T	8: 111,989,862 (GRCm38)	M76K	probably damaging	Het
Ankrd33	G	C	15: 101,116,899 (GRCm38)	V56L	probably benign	Het
Ascc3	T	A	10: 50,716,629 (GRCm38)	L1134I	possibly damaging	Het
C3	T	G	17: 57,217,286 (GRCm38)	D948A	probably damaging	Het
Ccdc121rt3	A	C	5: 112,355,529 (GRCm38)	M103R	probably benign	Het
Ccdc40	A	G	11: 119,231,786 (GRCm38)	E138G	possibly damaging	Het
Cd80	A	G	16: 38,486,504 (GRCm38)		probably null	Het
Cdca7	T	A	2: 72,479,529 (GRCm38)		probably null	Het
Chit1	A	G	1: 134,151,292 (GRCm38)	S447G	probably benign	Het
Cmya5	C	T	13: 93,069,278 (GRCm38)		probably null	Het
Cnnm2	T	A	19: 46,858,940 (GRCm38)		probably null	Het
Cnnm2	A	T	19: 46,762,550 (GRCm38)	I260F	probably damaging	Het
Col1a2	T	C	6: 4,534,639 (GRCm38)	L881P	unknown	Het
Crebbp	A	T	16: 4,117,323 (GRCm38)	S901T	probably damaging	Het
Dcun1d2	T	C	8: 13,271,637 (GRCm38)	Y158C	probably damaging	Het
Dnhd1	C	T	7: 105,720,798 (GRCm38)	P4477S	probably benign	Het
Donson	A	G	16: 91,681,330 (GRCm38)	Y428H	probably damaging	Het
Dsp	G	T	13: 38,191,740 (GRCm38)	W1167L	probably benign	Het
Elmo2	C	T	2: 165,295,041 (GRCm38)	V592M	probably damaging	Het
Enpp3	T	A	10: 24,826,195 (GRCm38)	E60D	probably damaging	Het
Erfl	A	T	7: 24,931,664 (GRCm38)		probably null	Het
Fbxo38	A	G	18: 62,536,224 (GRCm38)	C52R	probably damaging	Het
Gm10912	T	C	2: 104,066,710 (GRCm38)	W65R	probably damaging	Het
Gm43518	A	T	5: 123,936,427 (GRCm38)	M44L	probably benign	Het
Gnb1	T	A	4: 155,553,456 (GRCm38)	D212E	probably damaging	Het
Gnl1	A	G	17: 35,988,728 (GRCm38)	N597S	probably damaging	Het
Gprin1	T	G	13: 54,739,042 (GRCm38)	E473A	probably benign	Het
Ighv1-69	T	A	12: 115,623,214 (GRCm38)	M100L	probably benign	Het
Igkv14-100	T	C	6: 68,519,209 (GRCm38)	S29P	probably damaging	Het
Ints6	A	G	14: 62,714,337 (GRCm38)	V232A	probably damaging	Het
Jup	A	G	11: 100,379,553 (GRCm38)	L376P	probably damaging	Het
Kdr	A	T	5: 75,972,260 (GRCm38)	Y119*	probably null	Het
Kif1a	T	G	1: 93,066,098 (GRCm38)	T377P	probably benign	Het
Lama5	C	A	2: 180,180,731 (GRCm38)	V2850L	probably damaging	Het
Lrp2	T	C	2: 69,483,208 (GRCm38)	Y2393C	probably damaging	Het
Mfsd13a	C	T	19: 46,368,324 (GRCm38)	Q255*	probably null	Het
Msh3	A	C	13: 92,235,588 (GRCm38)	D891E	probably damaging	Het
Msl2	A	G	9: 101,075,282 (GRCm38)	N2D	possibly damaging	Het
Myo19	T	C	11: 84,900,547 (GRCm38)	L476P	probably damaging	Het
Nbeal2	G	A	9: 110,638,618 (GRCm38)	R501W	probably damaging	Het
Nfasc	C	A	1: 132,621,049 (GRCm38)	K293N	probably damaging	Het
Npbwr1	A	T	1: 5,917,100 (GRCm38)	L65Q	probably damaging	Het
Nrbp1	T	A	5: 31,244,481 (GRCm38)	D34E	probably damaging	Het
Nup205	T	A	6: 35,243,936 (GRCm38)	V1891D	probably benign	Het
Or51g2	T	A	7: 102,973,968 (GRCm38)	N8I	possibly damaging	Het
Or5g29	T	A	2: 85,590,598 (GRCm38)	D19E	probably benign	Het
Or5k1b	T	C	16: 58,761,119 (GRCm38)	N19S	probably benign	Het
Or8g22	G	T	9: 39,047,083 (GRCm38)	C156*	probably null	Het
Oscp1	G	A	4: 126,082,990 (GRCm38)		probably null	Het
Pcdhgb7	A	G	18: 37,753,033 (GRCm38)	T419A	probably damaging	Het
Pdzph1	T	C	17: 58,974,126 (GRCm38)	D387G	probably benign	Het
Phc1	A	G	6: 122,335,031 (GRCm38)	F56S	probably damaging	Het
Pik3c2g	A	G	6: 139,622,063 (GRCm38)	E59G	possibly damaging	Het
Prickle1	G	T	15: 93,500,871 (GRCm38)	T692K	possibly damaging	Het
Rbm45	T	A	2: 76,376,394 (GRCm38)	L250Q	probably damaging	Het
Ror1	T	A	4: 100,407,911 (GRCm38)	M194K	probably damaging	Het
Rrbp1	T	A	2: 143,957,802 (GRCm38)		probably null	Het
Rundc3b	T	C	5: 8,512,348 (GRCm38)	K340R	probably null	Het
Scn1a	T	A	2: 66,317,899 (GRCm38)	T1101S	probably damaging	Het
Sdk1	C	G	5: 142,094,657 (GRCm38)		probably null	Het
Skic2	A	G	17: 34,845,207 (GRCm38)	F501S	possibly damaging	Het
Slc20a1	T	A	2: 129,200,059 (GRCm38)	M114K	probably damaging	Het
Sorl1	A	C	9: 41,969,751 (GRCm38)	I2158S	probably benign	Het
Strip1	A	T	3: 107,626,795 (GRCm38)	F174L	probably benign	Het
Sucnr1	A	T	3: 60,086,278 (GRCm38)	I76L	probably benign	Het
Syt17	C	T	7: 118,408,019 (GRCm38)	V412I	probably benign	Het
Tie1	T	A	4: 118,489,653 (GRCm38)	H18L	probably benign	Het
Tpp1	T	G	7: 105,748,922 (GRCm38)	K345Q	probably damaging	Het
Trcg1	G	A	9: 57,241,569 (GRCm38)	M141I	possibly damaging	Het
Trpc4ap	T	C	2: 155,657,822 (GRCm38)	N260S	probably benign	Het
Vps41	C	A	13: 18,842,268 (GRCm38)	T512K	possibly damaging	Het
Vps52	A	T	17: 33,959,319 (GRCm38)	M147L	probably benign	Het
Ywhaq	A	G	12: 21,391,751 (GRCm38)		probably benign	Het
Zfp619	A	G	7: 39,534,963 (GRCm38)	N139S	probably benign	Het

Other mutations in Fam83b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Fam83b	APN	9	76,490,978 (GRCm38)	missense	probably benign	0.00
IGL01554:Fam83b	APN	9	76,502,121 (GRCm38)	missense	probably benign	0.33
IGL01694:Fam83b	APN	9	76,490,990 (GRCm38)	missense	probably benign	0.13
IGL02009:Fam83b	APN	9	76,492,322 (GRCm38)	missense	probably damaging	1.00
IGL02531:Fam83b	APN	9	76,492,000 (GRCm38)	missense	possibly damaging	0.61
IGL03328:Fam83b	APN	9	76,493,042 (GRCm38)	missense	probably benign	0.01
PIT4581001:Fam83b	UTSW	9	76,491,152 (GRCm38)	missense	probably damaging	1.00
R0110:Fam83b	UTSW	9	76,492,826 (GRCm38)	missense	possibly damaging	0.75
R0469:Fam83b	UTSW	9	76,492,826 (GRCm38)	missense	possibly damaging	0.75
R0510:Fam83b	UTSW	9	76,492,826 (GRCm38)	missense	possibly damaging	0.75
R0732:Fam83b	UTSW	9	76,492,928 (GRCm38)	nonsense	probably null
R0946:Fam83b	UTSW	9	76,491,397 (GRCm38)	missense	probably damaging	0.96
R0961:Fam83b	UTSW	9	76,491,295 (GRCm38)	missense	probably damaging	0.97
R1101:Fam83b	UTSW	9	76,545,670 (GRCm38)	missense	possibly damaging	0.68
R1200:Fam83b	UTSW	9	76,492,312 (GRCm38)	missense	probably damaging	1.00
R1248:Fam83b	UTSW	9	76,503,076 (GRCm38)	missense	probably benign	0.35
R1420:Fam83b	UTSW	9	76,492,612 (GRCm38)	missense	possibly damaging	0.94
R1429:Fam83b	UTSW	9	76,492,577 (GRCm38)	missense	probably benign
R1939:Fam83b	UTSW	9	76,493,080 (GRCm38)	missense	probably damaging	1.00
R1992:Fam83b	UTSW	9	76,492,022 (GRCm38)	missense	probably benign
R2102:Fam83b	UTSW	9	76,492,705 (GRCm38)	missense	probably damaging	0.96
R2134:Fam83b	UTSW	9	76,491,016 (GRCm38)	missense	probably damaging	1.00
R2398:Fam83b	UTSW	9	76,502,218 (GRCm38)	missense	probably damaging	1.00
R2878:Fam83b	UTSW	9	76,490,810 (GRCm38)	missense	probably damaging	1.00
R4092:Fam83b	UTSW	9	76,491,661 (GRCm38)	missense	probably benign	0.24
R4204:Fam83b	UTSW	9	76,503,053 (GRCm38)	missense	probably benign	0.09
R4537:Fam83b	UTSW	9	76,492,142 (GRCm38)	missense	probably benign	0.10
R4920:Fam83b	UTSW	9	76,491,868 (GRCm38)	missense	probably benign
R5456:Fam83b	UTSW	9	76,492,595 (GRCm38)	missense	probably benign
R5473:Fam83b	UTSW	9	76,491,500 (GRCm38)	missense	probably damaging	1.00
R5488:Fam83b	UTSW	9	76,545,599 (GRCm38)	missense	probably benign	0.05
R5489:Fam83b	UTSW	9	76,545,599 (GRCm38)	missense	probably benign	0.05
R5876:Fam83b	UTSW	9	76,491,850 (GRCm38)	missense	possibly damaging	0.92
R6150:Fam83b	UTSW	9	76,492,357 (GRCm38)	missense	probably damaging	1.00
R6374:Fam83b	UTSW	9	76,492,907 (GRCm38)	missense	probably benign	0.31
R6468:Fam83b	UTSW	9	76,502,131 (GRCm38)	nonsense	probably null
R6912:Fam83b	UTSW	9	76,490,932 (GRCm38)	missense	probably damaging	0.99
R7073:Fam83b	UTSW	9	76,545,749 (GRCm38)	missense	probably benign	0.18
R7356:Fam83b	UTSW	9	76,492,853 (GRCm38)	missense	probably benign	0.05
R7665:Fam83b	UTSW	9	76,490,875 (GRCm38)	missense	probably damaging	1.00
R7762:Fam83b	UTSW	9	76,492,432 (GRCm38)	missense	possibly damaging	0.87
R7790:Fam83b	UTSW	9	76,492,048 (GRCm38)	missense	probably benign	0.01
R7869:Fam83b	UTSW	9	76,492,144 (GRCm38)	missense	possibly damaging	0.78
R7879:Fam83b	UTSW	9	76,492,455 (GRCm38)	missense	possibly damaging	0.76
R7957:Fam83b	UTSW	9	76,491,985 (GRCm38)	missense	probably benign	0.00
R8067:Fam83b	UTSW	9	76,491,098 (GRCm38)	missense	probably benign
R8983:Fam83b	UTSW	9	76,493,075 (GRCm38)	missense	probably damaging	1.00
R9361:Fam83b	UTSW	9	76,492,794 (GRCm38)	missense	probably benign	0.03
R9405:Fam83b	UTSW	9	76,491,421 (GRCm38)	missense	possibly damaging	0.93
R9475:Fam83b	UTSW	9	76,491,803 (GRCm38)	missense	probably benign	0.31
R9656:Fam83b	UTSW	9	76,545,581 (GRCm38)	missense	probably benign	0.02
R9690:Fam83b	UTSW	9	76,491,220 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAGTCACACAAGCAGCCTGG -3'
(R):5'- ACTTTGTAAAATGTTCCACTCTTAGA -3'

Sequencing Primer
(F):5'- TGAGTGCTTCGAACCAATCTCAGG -3'
(R):5'- AGGAGCAAAATTCCACGG -3'

Posted On

2019-05-13