Mutagenetix > Incidental Mutations

Incidental Mutation 'R3427:BC034090'

475767

Institutional Source

Beutler Lab

Gene Symbol

BC034090

Ensembl Gene

ENSMUSG00000033722

Gene Name

cDNA sequence BC034090

Synonyms

MMRRC Submission

040645-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R3427 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155212471-155244444 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155241498 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 291 (I291M)

Ref Sequence

ENSEMBL: ENSMUSP00000139623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000186156]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186082

Predicted Effect

probably benign
Transcript: ENSMUST00000186156
AA Change: I291M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139623
Gene: ENSMUSG00000033722
AA Change: I291M

Domain	Start	End	E-Value	Type
low complexity region	446	463	N/A	INTRINSIC
low complexity region	779	793	N/A	INTRINSIC
low complexity region	855	861	N/A	INTRINSIC
low complexity region	933	945	N/A	INTRINSIC
PDZ	1123	1198	2.2e-5	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	A	9: 107,929,770	F431I	probably damaging	Het
Asb18	C	T	1: 89,968,593	G242S	probably damaging	Het
Atp13a3	T	C	16: 30,344,593	I582V	probably benign	Het
Bsph1	T	C	7: 13,472,243	Y78H	probably damaging	Het
Chd6	G	T	2: 160,990,255	T999N	probably damaging	Het
Cps1	T	A	1: 67,174,494	V795E	probably damaging	Het
Crhr1	A	G	11: 104,173,593		probably null	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Ctbp2	A	T	7: 132,991,592	H793Q	probably damaging	Het
Cul5	T	C	9: 53,617,890	M805V	probably benign	Het
Dctn3	T	C	4: 41,719,858	K83E	probably damaging	Het
Ep300	A	G	15: 81,601,279	N156D	unknown	Het
Epb42	A	T	2: 121,030,039	L160M	probably damaging	Het
Exosc2	T	C	2: 31,679,888	L237P	probably damaging	Het
Fiz1	A	G	7: 5,012,709	F94S	probably damaging	Het
Gm5422	A	G	10: 31,248,846		noncoding transcript	Het
Igsf9b	T	C	9: 27,334,577	F1280S	probably damaging	Het
Igtp	G	A	11: 58,206,593	V197I	probably damaging	Het
Kcnh1	T	C	1: 192,241,930	F151L	probably benign	Het
Nudc	C	T	4: 133,534,257	G239S	probably benign	Het
Olfr811	T	C	10: 129,801,851	K225E	possibly damaging	Het
Plekhb1	T	C	7: 100,645,650	Y172C	probably damaging	Het
Plscr4	T	C	9: 92,488,744	S255P	probably damaging	Het
Rbm26	A	G	14: 105,131,532	V737A	probably damaging	Het
Rps6ka4	C	A	19: 6,837,755		probably null	Het
Rsf1	GCG	GCGACGGCGTCG	7: 97,579,907		probably benign	Het
Rttn	G	A	18: 89,095,651		probably null	Het
Slc22a5	A	G	11: 53,869,326	V388A	probably benign	Het
Strip1	T	C	3: 107,616,822	H593R	possibly damaging	Het
Sycp1	A	T	3: 102,876,350	C603S	probably benign	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trpc1	C	T	9: 95,732,196	R5Q	probably benign	Het
Trpv3	A	T	11: 73,285,941	Y382F	probably damaging	Het
Unc80	G	A	1: 66,639,305	V2082I	probably benign	Het
Vmn2r63	A	G	7: 42,926,982	F469S	probably benign	Het

Other mutations in BC034090

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:BC034090	APN	1	155225447	missense	possibly damaging	0.95
IGL00159:BC034090	APN	1	155225451	nonsense	probably null
IGL00481:BC034090	APN	1	155232521	missense	probably benign	0.04
IGL01309:BC034090	APN	1	155226384	missense	probably damaging	0.98
IGL01813:BC034090	APN	1	155226339	nonsense	probably null
IGL01938:BC034090	APN	1	155232592	splice site	probably null
IGL01982:BC034090	APN	1	155223332	missense	probably damaging	1.00
IGL02115:BC034090	APN	1	155232651	intron	probably benign
IGL02338:BC034090	APN	1	155217471	missense	probably damaging	1.00
IGL02406:BC034090	APN	1	155225153	missense	probably benign	0.00
IGL03243:BC034090	APN	1	155225655	missense	possibly damaging	0.71
IGL03290:BC034090	APN	1	155226110	missense	probably damaging	1.00
R0055:BC034090	UTSW	1	155241658	missense	probably damaging	1.00
R1436:BC034090	UTSW	1	155225916	missense	probably benign	0.04
R1649:BC034090	UTSW	1	155225573	missense	possibly damaging	0.72
R1710:BC034090	UTSW	1	155225864	missense	possibly damaging	0.82
R1819:BC034090	UTSW	1	155225829	missense	possibly damaging	0.58
R1969:BC034090	UTSW	1	155225226	missense	possibly damaging	0.90
R1996:BC034090	UTSW	1	155221594	unclassified	probably benign
R2012:BC034090	UTSW	1	155221432	missense	probably damaging	0.98
R2133:BC034090	UTSW	1	155225786	missense	probably benign	0.27
R3426:BC034090	UTSW	1	155241498	missense	probably benign	0.00
R3428:BC034090	UTSW	1	155241498	missense	probably benign	0.00
R3782:BC034090	UTSW	1	155226278	missense	probably damaging	1.00
R3792:BC034090	UTSW	1	155241797	missense	probably damaging	0.98
R4234:BC034090	UTSW	1	155241580	missense	probably benign
R4373:BC034090	UTSW	1	155226158	missense	probably benign	0.22
R4377:BC034090	UTSW	1	155232450	missense	probably benign	0.00
R4661:BC034090	UTSW	1	155232475	missense	probably damaging	0.98
R4676:BC034090	UTSW	1	155226264	missense	possibly damaging	0.60
R4729:BC034090	UTSW	1	155225090	missense	probably damaging	1.00
R5170:BC034090	UTSW	1	155213650	missense	probably damaging	1.00
R5340:BC034090	UTSW	1	155226414	missense	possibly damaging	0.74
R5382:BC034090	UTSW	1	155225603	missense	probably benign	0.09
R5384:BC034090	UTSW	1	155242027	missense	possibly damaging	0.68
R5576:BC034090	UTSW	1	155241468	missense	probably benign	0.01
R5891:BC034090	UTSW	1	155233047	unclassified	probably benign
R6060:BC034090	UTSW	1	155241499	missense	probably benign	0.00
R6092:BC034090	UTSW	1	155224913	missense	probably damaging	0.99
R6662:BC034090	UTSW	1	155226339	missense	possibly damaging	0.92
R6736:BC034090	UTSW	1	155241930	missense	possibly damaging	0.92
R6903:BC034090	UTSW	1	155221385	missense	probably benign	0.03
R6970:BC034090	UTSW	1	155241439	missense	probably damaging	1.00
R7144:BC034090	UTSW	1	155242031	missense	probably damaging	1.00
R7201:BC034090	UTSW	1	155241934	missense	probably damaging	0.98
R7265:BC034090	UTSW	1	155225327	missense	probably damaging	0.96
R7380:BC034090	UTSW	1	155232483	missense	probably damaging	1.00
R7436:BC034090	UTSW	1	155226381	missense	probably damaging	1.00
R7569:BC034090	UTSW	1	155217405	missense	probably benign	0.00
R7587:BC034090	UTSW	1	155217486	missense	probably damaging	1.00
R7664:BC034090	UTSW	1	155241631	missense	probably damaging	1.00
R7737:BC034090	UTSW	1	155241673	missense	possibly damaging	0.66
R7782:BC034090	UTSW	1	155232664	intron	probably benign
X0002:BC034090	UTSW	1	155226279	nonsense	probably null

Predicted Primers

Posted On

2017-05-11