Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03290:BC034090'

415855

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

BC034090

Ensembl Gene

ENSMUSG00000033722

Gene Name

cDNA sequence BC034090

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL03290

Quality Score

Status

Chromosome

Chromosomal Location

155212471-155244444 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 155226110 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 136 (D136A)

Ref Sequence

ENSEMBL: ENSMUSP00000140632 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035914] [ENSMUST00000186156] [ENSMUST00000187096]

Predicted Effect

probably damaging
Transcript: ENSMUST00000035914
AA Change: D136A

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000037456
Gene: ENSMUSG00000033722
AA Change: D136A

Domain	Start	End	E-Value	Type
low complexity region	18	32	N/A	INTRINSIC
Pfam:DUF4685	44	168	6.6e-57	PFAM
low complexity region	486	500	N/A	INTRINSIC
low complexity region	562	568	N/A	INTRINSIC
low complexity region	640	652	N/A	INTRINSIC
PDZ	830	905	4.8e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186082

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186156
AA Change: D498A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139623
Gene: ENSMUSG00000033722
AA Change: D498A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186551

Predicted Effect

probably damaging
Transcript: ENSMUST00000187096
AA Change: D136A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140632
Gene: ENSMUSG00000033722
AA Change: D136A

Domain	Start	End	E-Value	Type
low complexity region	84	101	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190976

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	G	7: 119,703,423		probably benign	Het
Asb18	A	G	1: 90,014,574	S2P	probably damaging	Het
Atp2b2	A	G	6: 113,793,754	F398S	probably damaging	Het
Ces5a	A	C	8: 93,519,632	F310V	probably damaging	Het
Chsy1	T	C	7: 66,171,031	V338A	probably benign	Het
Dbh	A	G	2: 27,174,932	E385G	probably damaging	Het
Dnah14	T	A	1: 181,763,978		probably benign	Het
F2rl1	A	G	13: 95,513,589	S262P	possibly damaging	Het
Fat2	T	C	11: 55,256,219	N3984D	probably benign	Het
Fbxo38	A	T	18: 62,526,163	H354Q	probably benign	Het
Fgf6	T	A	6: 127,024,132	V201D	probably damaging	Het
Gm16181	A	T	17: 35,223,957		probably benign	Het
Gm6811	T	C	17: 21,094,049		noncoding transcript	Het
Gna11	A	G	10: 81,530,937	F313S	probably damaging	Het
Gprc6a	C	T	10: 51,615,872	A523T	probably damaging	Het
Il22	T	C	10: 118,205,880		probably null	Het
Insr	T	C	8: 3,258,574	Y154C	probably damaging	Het
Irak4	T	A	15: 94,551,899	D86E	probably benign	Het
Itk	C	A	11: 46,334,937	W529L	probably damaging	Het
Klhl6	C	A	16: 19,947,137	A572S	probably benign	Het
Ldhc	C	T	7: 46,869,688	R112C	probably damaging	Het
Lrrc56	T	C	7: 141,199,772		probably benign	Het
Mdh2	A	G	5: 135,789,713	E274G	probably damaging	Het
N4bp1	G	T	8: 86,848,533	D711E	probably benign	Het
Ngly1	T	A	14: 16,281,866	I248K	probably damaging	Het
Olfr324	A	G	11: 58,598,323	N309S	probably damaging	Het
Olfr872	T	C	9: 20,260,260	I140T	probably damaging	Het
Pbrm1	A	G	14: 31,107,284	E1421G	probably damaging	Het
Pcca	G	A	14: 122,585,106	R112H	possibly damaging	Het
Pgrmc2	T	C	3: 41,068,626		probably benign	Het
Podnl1	G	A	8: 84,132,189	V548I	probably benign	Het
Pogz	A	T	3: 94,875,091		probably benign	Het
Ppp1r3a	A	G	6: 14,754,772	Y159H	probably damaging	Het
Rax	T	C	18: 65,938,160	K135E	probably damaging	Het
Rbm7	T	A	9: 48,489,967	M154L	probably benign	Het
Rp1	A	G	1: 4,350,041	S283P	probably damaging	Het
Rpusd4	T	C	9: 35,267,977	S30P	probably benign	Het
Samd13	T	C	3: 146,646,315	T75A	probably benign	Het
Sfxn4	A	G	19: 60,860,070	W22R	probably damaging	Het
Sh3pxd2a	T	A	19: 47,424,516	R43W	probably damaging	Het
Smc5	A	G	19: 23,273,658	V54A	probably benign	Het
Snap47	A	G	11: 59,428,598	I238T	probably damaging	Het
Tecpr2	T	G	12: 110,967,833	I1309S	possibly damaging	Het
Trappc8	A	G	18: 20,820,935	L1310P	probably damaging	Het
Vmn2r61	T	A	7: 42,265,984	H118Q	probably benign	Het
Zbtb17	C	T	4: 141,466,933	T731I	probably damaging	Het
Zfp287	A	G	11: 62,715,236	F282L	probably damaging	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
BB004:BC034090	UTSW	1	155241625	nonsense	probably null
BB014:BC034090	UTSW	1	155241625	nonsense	probably null
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
R3427: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
R7927:BC034090	UTSW	1	155241625	nonsense	probably null
R8079:BC034090	UTSW	1	155225286	missense	probably damaging	1.00
R8204:BC034090	UTSW	1	155241742	missense	probably damaging	1.00
X0002:BC034090	UTSW	1	155226279	nonsense	probably null

Posted On

2016-08-02