Mutagenetix > Incidental Mutation

Incidental Mutation 'R0906:AA986860'

83310

Institutional Source

Beutler Lab

Gene Symbol

AA986860

Ensembl Gene

ENSMUSG00000042510

Gene Name

expressed sequence AA986860

Synonyms

MMRRC Submission

039064-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R0906 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130731976-130744622 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 130737693 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000046172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039323]

AlphaFold

Q8BI29

Predicted Effect

probably benign
Transcript: ENSMUST00000039323

SMART Domains

Protein: ENSMUSP00000046172
Gene: ENSMUSG00000042510

Domain	Start	End	E-Value	Type
Pfam:SARG	33	606	1e-235	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186185

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188068

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190859

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.3%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp7b	T	C	8: 22,027,826	H332R	probably benign	Het
Bace2	C	T	16: 97,356,941	P47L	possibly damaging	Het
Cyp2c39	A	G	19: 39,510,871	M1V	probably null	Het
Dcbld2	A	G	16: 58,455,247	E442G	probably damaging	Het
Gm14496	A	G	2: 182,000,515	T660A	probably damaging	Het
Gm4945	A	C	17: 47,042,870		noncoding transcript	Het
Gm5065	T	C	7: 5,359,829	I153T	probably damaging	Het
Gm6729	T	C	10: 86,540,592		noncoding transcript	Het
Golga1	G	A	2: 39,047,643	R204W	probably damaging	Het
Guf1	T	C	5: 69,566,386	I348T	probably damaging	Het
Htra4	T	A	8: 25,037,144	I212L	probably benign	Het
Itih5	G	A	2: 10,249,188	R750Q	probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Naip2	T	C	13: 100,161,854	E558G	probably benign	Het
Naip2	C	T	13: 100,161,860	G556D	probably benign	Het
Nsd1	T	C	13: 55,277,590	V1520A	probably benign	Het
Nuak1	C	T	10: 84,375,280	V315I	probably damaging	Het
Nup205	G	T	6: 35,236,892	G1740C	probably damaging	Het
Olfr398	G	C	11: 73,983,859	L250V	probably damaging	Het
Pclo	T	C	5: 14,676,686		probably benign	Het
Pik3r6	T	C	11: 68,536,101		probably benign	Het
Pikfyve	T	A	1: 65,253,397	F1336I	probably damaging	Het
Pla2r1	A	G	2: 60,514,947	I355T	possibly damaging	Het
Rgs22	A	T	15: 36,103,902		probably benign	Het
Sec63	T	A	10: 42,801,928	M312K	probably damaging	Het
Slc2a5	T	C	4: 150,142,830	I401T	probably benign	Het
Slc9a8	G	T	2: 167,434,867		probably benign	Het
Stab1	T	C	14: 31,145,249	E1718G	probably benign	Het
Terb1	A	T	8: 104,452,636	I640N	probably damaging	Het
Tmem217	A	G	17: 29,526,516	L80P	probably damaging	Het
Topbp1	C	T	9: 103,328,593	P810L	probably benign	Het
Ttbk2	G	A	2: 120,783,781	R151C	probably damaging	Het
Vmn2r88	T	G	14: 51,418,209	L626R	probably damaging	Het

Other mutations in AA986860

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:AA986860	APN	1	130742836	missense	possibly damaging	0.69
IGL01761:AA986860	APN	1	130742722	missense	possibly damaging	0.70
IGL02557:AA986860	APN	1	130742707	missense	probably benign	0.02
IGL03003:AA986860	APN	1	130743772	missense	probably damaging	1.00
IGL02802:AA986860	UTSW	1	130743393	missense	probably benign	0.00
R0326:AA986860	UTSW	1	130742898	missense	possibly damaging	0.87
R0483:AA986860	UTSW	1	130743825	missense	probably damaging	1.00
R0932:AA986860	UTSW	1	130737693	splice site	probably null
R1522:AA986860	UTSW	1	130743094	missense	probably damaging	1.00
R1762:AA986860	UTSW	1	130737688	critical splice donor site	probably null
R1874:AA986860	UTSW	1	130742691	missense	probably benign	0.06
R2083:AA986860	UTSW	1	130741069	missense	probably damaging	1.00
R2091:AA986860	UTSW	1	130743169	missense	probably benign	0.01
R2093:AA986860	UTSW	1	130743304	missense	probably benign	0.13
R3546:AA986860	UTSW	1	130741189	splice site	probably benign
R3915:AA986860	UTSW	1	130742607	missense	probably benign
R4679:AA986860	UTSW	1	130742403	missense	possibly damaging	0.67
R4703:AA986860	UTSW	1	130743355	missense	probably benign	0.19
R4890:AA986860	UTSW	1	130740988	splice site	probably benign
R4988:AA986860	UTSW	1	130742710	missense	probably damaging	1.00
R5171:AA986860	UTSW	1	130742847	missense	probably benign	0.23
R5327:AA986860	UTSW	1	130741003	missense	probably damaging	1.00
R5424:AA986860	UTSW	1	130742941	missense	probably damaging	1.00
R5763:AA986860	UTSW	1	130743031	missense	possibly damaging	0.53
R5799:AA986860	UTSW	1	130741171	nonsense	probably null
R6247:AA986860	UTSW	1	130743043	missense	possibly damaging	0.78
R7124:AA986860	UTSW	1	130742887	missense	possibly damaging	0.67
R7747:AA986860	UTSW	1	130743547	missense	possibly damaging	0.60
Z1176:AA986860	UTSW	1	130742991	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- TTGCAGAAGCCTCAGCTCACAC -3'
(R):5'- TGTCCCACCCAGTTCTCTACAGAAG -3'

Sequencing Primer
(F):5'- GCCCAGCTTGGGACATTC -3'
(R):5'- TCTCTACAGAAGCAGATGTGACTC -3'

Posted On

2013-11-08