Mutagenetix > Incidental Mutation

Incidental Mutation 'R6396:Fam81b'

516015

Institutional Source

Beutler Lab

Gene Symbol

Fam81b

Ensembl Gene

ENSMUSG00000109228

Gene Name

family with sequence similarity 81, member B

Synonyms

LOC238726

MMRRC Submission

044544-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R6396 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76349827-76427034 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76399968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 97 (R97W)

Ref Sequence

ENSEMBL: ENSMUSP00000146649 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000208418]

AlphaFold

A0A140LI28

Predicted Effect

probably damaging
Transcript: ENSMUST00000208418
AA Change: R97W

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208586

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224604

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225095

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 97.9%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap35	A	T	7: 16,296,224 (GRCm39)	I947K	probably damaging	Het
B3galnt2	A	T	13: 14,170,333 (GRCm39)	I447F	probably damaging	Het
Cacna2d3	C	A	14: 29,118,522 (GRCm39)	V134L	probably benign	Het
Clcn4	C	T	7: 7,297,024 (GRCm39)	G145S	probably damaging	Het
Cndp1	A	T	18: 84,650,135 (GRCm39)	M186K	probably benign	Het
Cntn6	A	G	6: 104,627,461 (GRCm39)	Y98C	probably damaging	Het
Ctsb	T	C	14: 63,375,550 (GRCm39)	V172A	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dyrk1a	C	A	16: 94,472,299 (GRCm39)	Q230K	probably damaging	Het
Ech1	C	T	7: 28,529,763 (GRCm39)		probably null	Het
Heatr1	A	G	13: 12,420,978 (GRCm39)	E423G	possibly damaging	Het
Hydin	A	T	8: 111,233,521 (GRCm39)	K1786N	probably damaging	Het
Igf2r	T	C	17: 12,932,977 (GRCm39)	I848M	probably benign	Het
Igkv10-96	G	A	6: 68,608,969 (GRCm39)	Q109*	probably null	Het
Mup6	T	C	4: 60,004,837 (GRCm39)	I76T	possibly damaging	Het
Nmt2	A	G	2: 3,315,738 (GRCm39)	R243G	probably benign	Het
Nsd1	G	A	13: 55,386,602 (GRCm39)	G119D	probably damaging	Het
Or1ad8	A	G	11: 50,898,312 (GRCm39)	H171R	possibly damaging	Het
Or4c113	A	G	2: 88,885,641 (GRCm39)	I43T	probably benign	Het
Or4c120	T	G	2: 89,001,034 (GRCm39)	D174A	probably damaging	Het
Or51ab3	C	T	7: 103,201,888 (GRCm39)	Q299*	probably null	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pank3	T	C	11: 35,669,516 (GRCm39)	V250A	probably damaging	Het
Pcdh10	A	G	3: 45,334,495 (GRCm39)	I270V	possibly damaging	Het
Pnp2	T	A	14: 51,200,616 (GRCm39)	V94E	probably damaging	Het
Prdm10	T	C	9: 31,229,842 (GRCm39)	V86A	possibly damaging	Het
Resf1	A	G	6: 149,229,417 (GRCm39)	D821G	probably damaging	Het
Riox1	G	A	12: 83,998,087 (GRCm39)	D208N	possibly damaging	Het
Rrp15	A	G	1: 186,469,783 (GRCm39)		probably null	Het
Skor1	G	T	9: 63,052,232 (GRCm39)	P579Q	probably damaging	Het
Slc44a4	T	A	17: 35,147,860 (GRCm39)	Y481*	probably null	Het
Smg7	A	T	1: 152,724,351 (GRCm39)	V610E	probably benign	Het
Tlx1	A	G	19: 45,144,491 (GRCm39)	Q71R	probably damaging	Het
Vmn2r27	A	T	6: 124,201,125 (GRCm39)	Y277*	probably null	Het
Zswim2	T	A	2: 83,754,062 (GRCm39)	R199S	probably damaging	Het

Other mutations in Fam81b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4589:Fam81b	UTSW	13	76,419,442 (GRCm39)	small insertion	probably benign
FR4737:Fam81b	UTSW	13	76,419,438 (GRCm39)	small insertion	probably benign
R6684:Fam81b	UTSW	13	76,350,157 (GRCm39)	nonsense	probably null
R7492:Fam81b	UTSW	13	76,419,398 (GRCm39)	missense	probably benign	0.01
R7671:Fam81b	UTSW	13	76,419,413 (GRCm39)	missense	possibly damaging	0.94
R7671:Fam81b	UTSW	13	76,419,412 (GRCm39)	missense	probably damaging	0.97
R7742:Fam81b	UTSW	13	76,399,809 (GRCm39)	missense	probably damaging	1.00
R8147:Fam81b	UTSW	13	76,383,140 (GRCm39)	missense	probably damaging	1.00
R9732:Fam81b	UTSW	13	76,399,985 (GRCm39)	missense	probably benign	0.39
RF009:Fam81b	UTSW	13	76,419,435 (GRCm39)	small insertion	probably benign
RF011:Fam81b	UTSW	13	76,419,435 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTCTTGACGATGCTGGTGA -3'
(R):5'- TTAGTTCAGGCTCCTAGTGTCT -3'

Sequencing Primer
(F):5'- ACGATGCTGGTGATGGTC -3'
(R):5'- AGGATGTAATGCTCTCAGCTACC -3'

Posted On

2018-05-04