Mutagenetix > Incidental Mutation

Incidental Mutation 'R1075:Fam81a'

85614

Institutional Source

Beutler Lab

Gene Symbol

Fam81a

Ensembl Gene

ENSMUSG00000032224

Gene Name

family with sequence similarity 81, member A

Synonyms

6430514L14Rik

MMRRC Submission

039161-MU

Accession Numbers

Essential gene?

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

Stock #

R1075 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69996586-70049840 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 70017556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 130 (R130*)

Ref Sequence

ENSEMBL: ENSMUSP00000034749 (fasta)

Gene Model

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

AlphaFold

Q3UXZ6

Predicted Effect

probably null
Transcript: ENSMUST00000034749
AA Change: R130*

SMART Domains

Protein: ENSMUSP00000034749
Gene: ENSMUSG00000032224
AA Change: R130*

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

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd6	T	C	4: 32,822,232 (GRCm39)	H179R	probably damaging	Het
Apbb2	G	T	5: 66,460,021 (GRCm39)	P692Q	probably damaging	Het
Arhgap40	A	G	2: 158,391,567 (GRCm39)	N627D	possibly damaging	Het
Asns	G	A	6: 7,676,076 (GRCm39)	R465*	probably null	Het
Bdkrb1	G	A	12: 105,570,562 (GRCm39)	V43I	probably benign	Het
Bod1	T	C	11: 31,621,514 (GRCm39)	D63G	possibly damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Csnka2ip	T	A	16: 64,298,310 (GRCm39)	K685*	probably null	Het
Dennd5a	A	T	7: 109,517,808 (GRCm39)	D609E	probably benign	Het
Dhx34	G	C	7: 15,952,274 (GRCm39)	T117S	probably benign	Het
Dpp4	A	T	2: 62,182,630 (GRCm39)	D550E	probably benign	Het
Enah	C	T	1: 181,784,066 (GRCm39)	R81K	unknown	Het
Epha5	G	T	5: 84,298,254 (GRCm39)	A383E	probably damaging	Het
Epha5	C	T	5: 84,298,255 (GRCm39)	A383T	probably damaging	Het
Etnppl	A	T	3: 130,423,212 (GRCm39)	M298L	probably benign	Het
Fbxl3	A	C	14: 103,332,839 (GRCm39)	H46Q	probably benign	Het
Gal3st1	A	G	11: 3,948,509 (GRCm39)	I239V	possibly damaging	Het
H2-T15	C	T	17: 36,367,038 (GRCm39)	G335D	probably benign	Het
Htra4	T	C	8: 25,523,612 (GRCm39)	I318V	probably benign	Het
Igdcc4	A	G	9: 65,038,932 (GRCm39)	T906A	possibly damaging	Het
Il7r	T	C	15: 9,516,543 (GRCm39)	N86S	probably benign	Het
Mettl17	A	G	14: 52,127,063 (GRCm39)	N231D	probably benign	Het
Mki67	T	C	7: 135,299,040 (GRCm39)	D1998G	probably benign	Het
Myh15	G	T	16: 48,940,417 (GRCm39)	R789L	possibly damaging	Het
Myh7	A	G	14: 55,224,860 (GRCm39)	V569A	probably benign	Het
Nell1	A	G	7: 50,503,588 (GRCm39)	I617M	probably damaging	Het
Nlrp1b	C	G	11: 71,072,512 (GRCm39)	E444Q	probably benign	Het
Or10ak16	T	C	4: 118,750,402 (GRCm39)	S41P	probably damaging	Het
Or2b4	T	A	17: 38,116,660 (GRCm39)	L208*	probably null	Het
Or2y8	T	A	11: 52,035,677 (GRCm39)	I227F	possibly damaging	Het
Psmd2	T	C	16: 20,478,709 (GRCm39)	S603P	probably damaging	Het
Slc4a2	T	A	5: 24,644,055 (GRCm39)	I913N	possibly damaging	Het
Smyd4	T	C	11: 75,291,164 (GRCm39)	Y589H	probably damaging	Het
Spag17	A	G	3: 100,000,992 (GRCm39)	E1850G	probably damaging	Het
Srsf11	A	T	3: 157,718,427 (GRCm39)		probably benign	Het
Stra6	A	T	9: 58,058,687 (GRCm39)	N488I	possibly damaging	Het
Supt20	C	T	3: 54,614,362 (GRCm39)	Q160*	probably null	Het
Tbc1d2b	G	A	9: 90,104,393 (GRCm39)	P583L	possibly damaging	Het
Uchl1	T	A	5: 66,839,808 (GRCm39)	F117I	probably damaging	Het
Usf1	T	A	1: 171,245,677 (GRCm39)	N307K	probably benign	Het
Zfp994	T	A	17: 22,419,926 (GRCm39)	H341L	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
IGL02891:Fam81a	APN	9	70,017,558 (GRCm39)	missense	probably damaging	1.00
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
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'- TGAGCACTTTACTCCCTGAGCATCT -3'
(R):5'- TGAGTCGAGCACTCATATACTTTCCTGA -3'

Sequencing Primer
(F):5'- gcgaaactgaagagggaaaaac -3'
(R):5'- TCCTGAATTATGAAATGGACACG -3'

Posted On

2013-11-18