Mutagenetix > Incidental Mutation

Incidental Mutation 'R1200:Fam83b'

101303

Institutional Source

Beutler Lab

Gene Symbol

Fam83b

Ensembl Gene

ENSMUSG00000032358

Gene Name

family with sequence similarity 83, member B

Synonyms

C530008M07Rik

MMRRC Submission

039270-MU

Accession Numbers

Essential gene?

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

Stock #

R1200 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76397336-76474398 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76399594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 503 (D503G)

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: D503G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096146
Gene: ENSMUSG00000032358
AA Change: D503G

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: D503G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139354
Gene: ENSMUSG00000032358
AA Change: D503G

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: 98.9%
3x: 97.8%
10x: 94.6%
20x: 87.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,667,536 (GRCm39)	F309S	unknown	Het
Abcc2	A	T	19: 43,822,426 (GRCm39)	Q1421H	probably damaging	Het
Acat1	T	A	9: 53,494,810 (GRCm39)	I361F	possibly damaging	Het
Akp3	T	A	1: 87,052,982 (GRCm39)	I57N	probably damaging	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Axin2	C	A	11: 108,822,376 (GRCm39)	D309E	probably damaging	Het
Clstn3	G	T	6: 124,436,129 (GRCm39)	P207T	probably damaging	Het
Dip2b	C	A	15: 100,107,626 (GRCm39)	A1212E	probably benign	Het
Dnah5	A	G	15: 28,246,403 (GRCm39)	I580M	possibly damaging	Het
Dpp3	T	C	19: 4,973,157 (GRCm39)	T146A	probably benign	Het
Fam227a	A	G	15: 79,496,738 (GRCm39)	F613S	possibly damaging	Het
Flot2	C	T	11: 77,945,631 (GRCm39)	T2M	probably damaging	Het
Herc1	T	C	9: 66,393,406 (GRCm39)	L4095S	probably damaging	Het
Kcnh7	T	C	2: 62,607,739 (GRCm39)	Y614C	probably damaging	Het
Lcp1	T	A	14: 75,466,742 (GRCm39)	F616L	possibly damaging	Het
Myh15	T	A	16: 48,916,882 (GRCm39)	Y401N	probably damaging	Het
Neb	T	C	2: 52,057,657 (GRCm39)	Y6144C	probably damaging	Het
Nr1h5	A	G	3: 102,855,178 (GRCm39)	F308L	probably damaging	Het
Ntn5	G	T	7: 45,341,806 (GRCm39)	V309L	possibly damaging	Het
Or51aa2	T	A	7: 103,188,274 (GRCm39)	T56S	probably benign	Het
Or8k21	A	T	2: 86,145,477 (GRCm39)	L51Q	probably damaging	Het
Pex1	G	A	5: 3,656,411 (GRCm39)		probably null	Het
Pld1	A	T	3: 28,103,435 (GRCm39)	D380V	probably damaging	Het
Prdm1	A	G	10: 44,326,126 (GRCm39)	Y148H	probably damaging	Het
Ptchd3	T	C	11: 121,722,087 (GRCm39)		probably null	Het
Rnf17	C	T	14: 56,705,163 (GRCm39)	T689I	probably benign	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Twf1	A	T	15: 94,484,239 (GRCm39)	H94Q	probably benign	Het
Vmn2r13	T	G	5: 109,322,068 (GRCm39)	I210L	probably damaging	Het
Zbtb49	T	C	5: 38,370,675 (GRCm39)	E402G	probably damaging	Het

Other mutations in Fam83b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Fam83b	APN	9	76,398,260 (GRCm39)	missense	probably benign	0.00
IGL01554:Fam83b	APN	9	76,409,403 (GRCm39)	missense	probably benign	0.33
IGL01694:Fam83b	APN	9	76,398,272 (GRCm39)	missense	probably benign	0.13
IGL02009:Fam83b	APN	9	76,399,604 (GRCm39)	missense	probably damaging	1.00
IGL02531:Fam83b	APN	9	76,399,282 (GRCm39)	missense	possibly damaging	0.61
IGL03328:Fam83b	APN	9	76,400,324 (GRCm39)	missense	probably benign	0.01
PIT4581001:Fam83b	UTSW	9	76,398,434 (GRCm39)	missense	probably damaging	1.00
R0110:Fam83b	UTSW	9	76,400,108 (GRCm39)	missense	possibly damaging	0.75
R0469:Fam83b	UTSW	9	76,400,108 (GRCm39)	missense	possibly damaging	0.75
R0510:Fam83b	UTSW	9	76,400,108 (GRCm39)	missense	possibly damaging	0.75
R0732:Fam83b	UTSW	9	76,400,210 (GRCm39)	nonsense	probably null
R0946:Fam83b	UTSW	9	76,398,679 (GRCm39)	missense	probably damaging	0.96
R0961:Fam83b	UTSW	9	76,398,577 (GRCm39)	missense	probably damaging	0.97
R1101:Fam83b	UTSW	9	76,452,952 (GRCm39)	missense	possibly damaging	0.68
R1248:Fam83b	UTSW	9	76,410,358 (GRCm39)	missense	probably benign	0.35
R1420:Fam83b	UTSW	9	76,399,894 (GRCm39)	missense	possibly damaging	0.94
R1429:Fam83b	UTSW	9	76,399,859 (GRCm39)	missense	probably benign
R1939:Fam83b	UTSW	9	76,400,362 (GRCm39)	missense	probably damaging	1.00
R1992:Fam83b	UTSW	9	76,399,304 (GRCm39)	missense	probably benign
R2102:Fam83b	UTSW	9	76,399,987 (GRCm39)	missense	probably damaging	0.96
R2134:Fam83b	UTSW	9	76,398,298 (GRCm39)	missense	probably damaging	1.00
R2398:Fam83b	UTSW	9	76,409,500 (GRCm39)	missense	probably damaging	1.00
R2878:Fam83b	UTSW	9	76,398,092 (GRCm39)	missense	probably damaging	1.00
R4092:Fam83b	UTSW	9	76,398,943 (GRCm39)	missense	probably benign	0.24
R4204:Fam83b	UTSW	9	76,410,335 (GRCm39)	missense	probably benign	0.09
R4537:Fam83b	UTSW	9	76,399,424 (GRCm39)	missense	probably benign	0.10
R4920:Fam83b	UTSW	9	76,399,150 (GRCm39)	missense	probably benign
R5456:Fam83b	UTSW	9	76,399,877 (GRCm39)	missense	probably benign
R5473:Fam83b	UTSW	9	76,398,782 (GRCm39)	missense	probably damaging	1.00
R5488:Fam83b	UTSW	9	76,452,881 (GRCm39)	missense	probably benign	0.05
R5489:Fam83b	UTSW	9	76,452,881 (GRCm39)	missense	probably benign	0.05
R5876:Fam83b	UTSW	9	76,399,132 (GRCm39)	missense	possibly damaging	0.92
R6150:Fam83b	UTSW	9	76,399,639 (GRCm39)	missense	probably damaging	1.00
R6374:Fam83b	UTSW	9	76,400,189 (GRCm39)	missense	probably benign	0.31
R6468:Fam83b	UTSW	9	76,409,413 (GRCm39)	nonsense	probably null
R6912:Fam83b	UTSW	9	76,398,214 (GRCm39)	missense	probably damaging	0.99
R7022:Fam83b	UTSW	9	76,409,394 (GRCm39)	frame shift	probably null
R7073:Fam83b	UTSW	9	76,453,031 (GRCm39)	missense	probably benign	0.18
R7356:Fam83b	UTSW	9	76,400,135 (GRCm39)	missense	probably benign	0.05
R7665:Fam83b	UTSW	9	76,398,157 (GRCm39)	missense	probably damaging	1.00
R7762:Fam83b	UTSW	9	76,399,714 (GRCm39)	missense	possibly damaging	0.87
R7790:Fam83b	UTSW	9	76,399,330 (GRCm39)	missense	probably benign	0.01
R7869:Fam83b	UTSW	9	76,399,426 (GRCm39)	missense	possibly damaging	0.78
R7879:Fam83b	UTSW	9	76,399,737 (GRCm39)	missense	possibly damaging	0.76
R7957:Fam83b	UTSW	9	76,399,267 (GRCm39)	missense	probably benign	0.00
R8067:Fam83b	UTSW	9	76,398,380 (GRCm39)	missense	probably benign
R8983:Fam83b	UTSW	9	76,400,357 (GRCm39)	missense	probably damaging	1.00
R9361:Fam83b	UTSW	9	76,400,076 (GRCm39)	missense	probably benign	0.03
R9405:Fam83b	UTSW	9	76,398,703 (GRCm39)	missense	possibly damaging	0.93
R9475:Fam83b	UTSW	9	76,399,085 (GRCm39)	missense	probably benign	0.31
R9656:Fam83b	UTSW	9	76,452,863 (GRCm39)	missense	probably benign	0.02
R9690:Fam83b	UTSW	9	76,398,502 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCGCTTCCTTGAGAACCGATGATG -3'
(R):5'- ACCAATAATGCTCCTGGACGCTG -3'

Sequencing Primer
(F):5'- AACCGATGATGGTGGAATTTG -3'
(R):5'- GCCTTCAGACAGTCTCAGTGTAG -3'

Posted On

2014-01-15