Mutagenetix > Incidental Mutation

Incidental Mutation 'R8555:Fam181b'

660062

Institutional Source

Beutler Lab

Gene Symbol

Fam181b

Ensembl Gene

ENSMUSG00000051515

Gene Name

family with sequence similarity 181, member B

Synonyms

A830059I20Rik

MMRRC Submission

068518-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

R8555 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92729087-92730929 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92729296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 23 (D23V)

Ref Sequence

ENSEMBL: ENSMUSP00000146473 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051179]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000051179
AA Change: D23V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

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

Validation Efficiency

100% (35/35)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal fertility and morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405O20Rik	C	T	7: 50,250,010 (GRCm39)	A348V	possibly damaging	Het
Alk	A	T	17: 72,228,869 (GRCm39)	V732E	probably damaging	Het
Ccdc88a	T	C	11: 29,380,169 (GRCm39)	S182P	probably benign	Het
Cyp2c70	T	C	19: 40,172,345 (GRCm39)	D99G	probably benign	Het
Dnah8	G	T	17: 30,940,084 (GRCm39)	E1677*	probably null	Het
Dop1b	A	G	16: 93,568,698 (GRCm39)	T797A	probably damaging	Het
Fbxo4	A	T	15: 3,995,273 (GRCm39)	V357D	probably damaging	Het
Gm4924	T	C	10: 82,213,224 (GRCm39)		probably benign	Het
Grhl2	A	G	15: 37,233,507 (GRCm39)		probably benign	Het
Magee2	A	T	X: 103,900,087 (GRCm39)	L188H	probably damaging	Het
Matn2	A	G	15: 34,423,951 (GRCm39)	K603R	probably benign	Het
Mfsd6l	G	A	11: 68,447,898 (GRCm39)	V250I	probably benign	Het
Mroh9	T	C	1: 162,899,595 (GRCm39)		probably null	Het
Ntsr1	A	G	2: 180,180,470 (GRCm39)	I259V	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or14j3	A	G	17: 37,900,540 (GRCm39)	S235P	possibly damaging	Het
Or6d14	G	T	6: 116,534,289 (GRCm39)	R301L	probably damaging	Het
Pax2	T	C	19: 44,750,128 (GRCm39)	Y72H	probably damaging	Het
Pcdh10	A	T	3: 45,334,030 (GRCm39)	I115F	probably benign	Het
Pkp4	A	T	2: 59,138,379 (GRCm39)	R210*	probably null	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rpa2	A	G	4: 132,499,481 (GRCm39)		probably null	Het
Sec31a	T	C	5: 100,540,273 (GRCm39)	N471S	probably benign	Het
Serpinb9g	A	T	13: 33,676,796 (GRCm39)	T193S	probably benign	Het
Sh3pxd2b	C	T	11: 32,361,469 (GRCm39)	T227M	probably benign	Het
Speg	A	G	1: 75,378,908 (GRCm39)		probably null	Het
Suz12	T	C	11: 79,922,817 (GRCm39)	I653T	probably damaging	Het
Thsd7b	C	A	1: 129,523,191 (GRCm39)	T75K	probably damaging	Het
Trav5-1	A	C	14: 52,860,276 (GRCm39)	Q27P	probably damaging	Het
Trim5	T	C	7: 103,927,330 (GRCm39)		probably null	Het
Vmn1r174	A	T	7: 23,453,970 (GRCm39)	Y212F	possibly damaging	Het
Vmn2r110	G	A	17: 20,804,618 (GRCm39)	P101S	probably damaging	Het
Vmn2r17	A	G	5: 109,600,810 (GRCm39)	T703A	probably damaging	Het
Vmn2r84	A	G	10: 130,230,100 (GRCm39)	M4T	probably benign	Het
Zfp709	A	G	8: 72,643,476 (GRCm39)	T302A	probably benign	Het

Other mutations in Fam181b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1328:Fam181b	UTSW	7	92,729,437 (GRCm39)	missense	probably damaging	0.96
R1447:Fam181b	UTSW	7	92,729,368 (GRCm39)	missense	probably damaging	0.99
R2055:Fam181b	UTSW	7	92,729,634 (GRCm39)	missense	probably benign
R4086:Fam181b	UTSW	7	92,729,788 (GRCm39)	missense	probably benign
R4600:Fam181b	UTSW	7	92,729,992 (GRCm39)	missense	possibly damaging	0.73
R5048:Fam181b	UTSW	7	92,729,147 (GRCm39)	utr 5 prime	probably benign
R5096:Fam181b	UTSW	7	92,730,452 (GRCm39)	utr 3 prime	probably benign
R7171:Fam181b	UTSW	7	92,729,943 (GRCm39)	missense	possibly damaging	0.49
R7429:Fam181b	UTSW	7	92,729,403 (GRCm39)	missense	probably benign	0.17
R7430:Fam181b	UTSW	7	92,729,403 (GRCm39)	missense	probably benign	0.17
R9001:Fam181b	UTSW	7	92,730,356 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGGCTTACAAGATCTAATGAGCTCC -3'
(R):5'- TAGACTTGCCTGGCTTGTCC -3'

Sequencing Primer
(F):5'- AGATCTAATGAGCTCCCCCGG -3'
(R):5'- GCTTGTCCAGCGCCAGC -3'

Posted On

2021-01-18