Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02891:Fam81a'

363195

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam81a

Ensembl Gene

ENSMUSG00000032224

Gene Name

family with sequence similarity 81, member A

Synonyms

6430514L14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL02891

Quality Score

Status

Chromosome

Chromosomal Location

69996586-70049840 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70017558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 129 (L129P)

Ref Sequence

ENSEMBL: ENSMUSP00000034749 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034749]

AlphaFold

Q3UXZ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000034749
AA Change: L129P

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

SMART Domains

Protein: ENSMUSP00000034749
Gene: ENSMUSG00000032224
AA Change: L129P

Domain	Start	End	E-Value	Type
coiled coil region	75	106	N/A	INTRINSIC
coiled coil region	158	187	N/A	INTRINSIC
low complexity region	349	358	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,500,340 (GRCm39)	S1284P	probably damaging	Het
Adgrf1	T	C	17: 43,622,052 (GRCm39)	V763A	probably damaging	Het
Adhfe1	T	A	1: 9,628,396 (GRCm39)	M256K	probably benign	Het
Afg2a	T	A	3: 37,480,341 (GRCm39)	V130D	probably damaging	Het
Chit1	A	G	1: 134,073,048 (GRCm39)	S125G	probably benign	Het
Clu	T	A	14: 66,213,433 (GRCm39)	F273Y	probably damaging	Het
Dgki	T	C	6: 36,890,676 (GRCm39)	D869G	probably benign	Het
Elapor1	C	T	3: 108,371,708 (GRCm39)	R672Q	probably benign	Het
Emx1	T	C	6: 85,181,067 (GRCm39)		probably benign	Het
Ercc2	T	G	7: 19,127,211 (GRCm39)	F316C	probably damaging	Het
Fat4	T	A	3: 39,005,422 (GRCm39)	N1940K	probably damaging	Het
Fbxl13	G	A	5: 21,727,098 (GRCm39)		probably benign	Het
Ift70b	C	T	2: 75,767,404 (GRCm39)	V450M	possibly damaging	Het
Kcnt2	T	A	1: 140,502,544 (GRCm39)	D879E	probably damaging	Het
Kti12	T	G	4: 108,705,730 (GRCm39)	S215A	probably benign	Het
Lama1	G	A	17: 68,111,531 (GRCm39)	G2261R	probably damaging	Het
Ntn5	G	T	7: 45,335,648 (GRCm39)	L26F	probably damaging	Het
Nwd2	A	G	5: 63,882,570 (GRCm39)	N74S	possibly damaging	Het
Or12d17	T	A	17: 37,777,835 (GRCm39)	V246E	probably damaging	Het
Or2d3c	A	G	7: 106,526,288 (GRCm39)	V126A	probably damaging	Het
Phactr4	T	C	4: 132,114,334 (GRCm39)	D20G	probably damaging	Het
Ptpn23	G	A	9: 110,217,088 (GRCm39)	Q923*	probably null	Het
Rfx6	T	A	10: 51,599,942 (GRCm39)	S333T	possibly damaging	Het
Skint10	T	A	4: 112,586,023 (GRCm39)	I198F	probably benign	Het
Taf3	G	A	2: 9,926,038 (GRCm39)	P647L	probably damaging	Het
Tbcb	T	C	7: 29,932,859 (GRCm39)		probably benign	Het
Tmem63c	T	C	12: 87,118,042 (GRCm39)	F216L	probably benign	Het
Uba5	A	G	9: 103,931,392 (GRCm39)		probably benign	Het
Usp34	C	A	11: 23,437,166 (GRCm39)	Q217K	probably benign	Het
Vmn1r202	G	A	13: 22,685,640 (GRCm39)	T259I	probably benign	Het
Vmn2r99	G	A	17: 19,598,952 (GRCm39)	W212*	probably null	Het
Zfp687	G	T	3: 94,919,257 (GRCm39)	P172T	probably damaging	Het

Other mutations in Fam81a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01636:Fam81a	APN	9	70,006,434 (GRCm39)	nonsense	probably null
IGL02010:Fam81a	APN	9	70,006,419 (GRCm39)	missense	probably benign	0.04
R0100:Fam81a	UTSW	9	70,010,091 (GRCm39)	splice site	probably benign
R0497:Fam81a	UTSW	9	70,003,401 (GRCm39)	missense	possibly damaging	0.47
R0621:Fam81a	UTSW	9	70,000,929 (GRCm39)	missense	probably benign	0.35
R1075:Fam81a	UTSW	9	70,017,556 (GRCm39)	nonsense	probably null
R1524:Fam81a	UTSW	9	70,032,390 (GRCm39)	missense	probably damaging	1.00
R4970:Fam81a	UTSW	9	70,000,872 (GRCm39)	nonsense	probably null
R5138:Fam81a	UTSW	9	70,006,457 (GRCm39)	missense	probably benign	0.01
R5209:Fam81a	UTSW	9	70,032,442 (GRCm39)	missense	probably benign	0.06
R6139:Fam81a	UTSW	9	70,010,100 (GRCm39)	critical splice donor site	probably null
R6378:Fam81a	UTSW	9	70,017,628 (GRCm39)	missense	probably damaging	1.00
R7145:Fam81a	UTSW	9	70,017,560 (GRCm39)	missense	probably damaging	1.00
R8030:Fam81a	UTSW	9	70,010,191 (GRCm39)	missense	probably benign	0.11
R8350:Fam81a	UTSW	9	70,032,300 (GRCm39)	missense	probably damaging	1.00
R8450:Fam81a	UTSW	9	70,032,300 (GRCm39)	missense	probably damaging	1.00
R8781:Fam81a	UTSW	9	70,032,381 (GRCm39)	missense	probably damaging	1.00
R9021:Fam81a	UTSW	9	70,017,538 (GRCm39)	critical splice donor site	probably null

Posted On

2015-12-18