Mutagenetix > Incidental Mutation

Incidental Mutation 'R0100:Fam81a'

64130

Institutional Source

Beutler Lab

Gene Symbol

Fam81a

Ensembl Gene

ENSMUSG00000032224

Gene Name

family with sequence similarity 81, member A

Synonyms

6430514L14Rik

MMRRC Submission

038386-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R0100 (G1)

Quality Score

152

Status

Validated

Chromosome

Chromosomal Location

69996586-70049840 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 70010091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034749 (fasta)

Gene Model

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

AlphaFold

Q3UXZ6

Predicted Effect

probably benign
Transcript: ENSMUST00000034749

SMART Domains

Protein: ENSMUSP00000034749
Gene: ENSMUSG00000032224

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145427

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	G	4: 156,259,415 (GRCm39)	C814R	probably damaging	Het
Bbof1	T	A	12: 84,457,829 (GRCm39)	D31E	probably benign	Het
Ccdc51	C	T	9: 108,921,066 (GRCm39)	Q318*	probably null	Het
Cpxm2	T	A	7: 131,656,600 (GRCm39)	H554L	possibly damaging	Het
Dbr1	T	A	9: 99,465,722 (GRCm39)	D433E	probably benign	Het
Ddx55	C	T	5: 124,694,845 (GRCm39)	T91I	probably damaging	Het
Dhx57	T	C	17: 80,582,585 (GRCm39)	D340G	possibly damaging	Het
Dnah1	C	T	14: 30,984,109 (GRCm39)		probably null	Het
Dpp9	C	T	17: 56,512,854 (GRCm39)	G118D	possibly damaging	Het
Fat4	A	C	3: 39,034,397 (GRCm39)	N2683T	probably damaging	Het
Fbxo47	C	T	11: 97,759,432 (GRCm39)	G165S	probably damaging	Het
Garre1	A	G	7: 33,953,436 (GRCm39)	I442T	possibly damaging	Het
Gpatch2	C	A	1: 186,958,014 (GRCm39)	A123E	probably damaging	Het
Greb1	T	A	12: 16,730,225 (GRCm39)	Q1734L	probably benign	Het
Gtf2ird2	T	C	5: 134,245,857 (GRCm39)	L705P	probably damaging	Het
H13	T	A	2: 152,531,783 (GRCm39)		probably null	Het
Hip1	T	C	5: 135,465,307 (GRCm39)	D367G	probably benign	Het
Ift140	C	T	17: 25,309,928 (GRCm39)	Q1112*	probably null	Het
Il17b	A	G	18: 61,823,342 (GRCm39)	M59V	probably benign	Het
Lpin3	T	C	2: 160,747,260 (GRCm39)	Y829H	probably damaging	Het
Mocs3	C	T	2: 168,073,110 (GRCm39)	R186C	probably damaging	Het
Or10al5	T	C	17: 38,063,594 (GRCm39)	F283S	probably benign	Het
Or2bd2	C	T	7: 6,443,399 (GRCm39)	R167C	probably damaging	Het
Or4c120	T	A	2: 89,001,431 (GRCm39)	I42F	probably benign	Het
Or5be3	T	C	2: 86,863,939 (GRCm39)	T209A	probably benign	Het
Osgepl1	A	G	1: 53,362,372 (GRCm39)	I405V	probably damaging	Het
Pdcd11	T	C	19: 47,091,105 (GRCm39)	S360P	probably benign	Het
Plekhs1	A	G	19: 56,466,934 (GRCm39)	E255G	probably damaging	Het
Tex22	T	A	12: 113,052,392 (GRCm39)	I150N	probably benign	Het
Tmem106a	T	C	11: 101,477,084 (GRCm39)	S98P	probably benign	Het
Tnfrsf18	A	G	4: 156,112,823 (GRCm39)	T170A	probably benign	Het
Trpc6	C	T	9: 8,653,035 (GRCm39)	P614S	probably damaging	Het
Usp28	C	A	9: 48,947,232 (GRCm39)	P566Q	probably damaging	Het
Washc5	A	G	15: 59,215,947 (GRCm39)	F811L	possibly 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
IGL02891:Fam81a	APN	9	70,017,558 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- CAACAACTCTCTGTGGTCTGGCTTC -3'
(R):5'- TCGTATGCAAGGCAGCTCTTTCG -3'

Sequencing Primer
(F):5'- TCTGGCTTCCAGATTCGTG -3'
(R):5'- ATGCTTTTAAACTTTAATGGGTGTG -3'

Posted On

2013-08-06