Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01309:BC034090'

73571

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 #

IGL01309

Quality Score

Status

Chromosome

Chromosomal Location

155212471-155244444 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155226384 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 45 (N45D)

Ref Sequence

ENSEMBL: ENSMUSP00000037456 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000035914
AA Change: N45D

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037456
Gene: ENSMUSG00000033722
AA Change: N45D

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

probably damaging
Transcript: ENSMUST00000186156
AA Change: N407D

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139623
Gene: ENSMUSG00000033722
AA Change: N407D

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

possibly damaging
Transcript: ENSMUST00000187096
AA Change: N45D

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140632
Gene: ENSMUSG00000033722
AA Change: N45D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192162

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	G	16: 17,113,546	V275A	possibly damaging	Het
Adamts2	A	G	11: 50,803,701	D1105G	probably benign	Het
Adgrb3	T	A	1: 25,112,271	M195L	possibly damaging	Het
Adrm1	A	G	2: 180,175,963		probably benign	Het
Atg13	T	A	2: 91,678,831	I457F	possibly damaging	Het
C3	C	T	17: 57,209,652		probably benign	Het
Cacna1a	G	A	8: 84,523,028	G221D	probably damaging	Het
Calr	A	G	8: 84,846,706		probably null	Het
Chd3	C	T	11: 69,357,731	V825I	probably damaging	Het
Chdh	T	G	14: 30,035,804		probably benign	Het
Ckap5	T	C	2: 91,570,184	V627A	probably damaging	Het
Commd3	A	G	2: 18,672,478	E5G	probably benign	Het
Ddi1	T	C	9: 6,265,773	R199G	probably damaging	Het
Dennd4c	A	G	4: 86,805,487		probably benign	Het
Dok7	G	A	5: 35,079,568	G293D	possibly damaging	Het
Epm2aip1	T	C	9: 111,273,528	V523A	probably benign	Het
Fam171b	C	T	2: 83,879,447	Q488*	probably null	Het
Gabbr1	G	A	17: 37,048,607		probably null	Het
Gm5965	T	G	16: 88,778,331	S131A	possibly damaging	Het
Gpcpd1	T	C	2: 132,550,324	D235G	probably damaging	Het
Grip1	A	T	10: 119,931,302	K111*	probably null	Het
Itih4	G	T	14: 30,891,749	D308Y	probably damaging	Het
Kcnj6	A	G	16: 94,832,455	Y266H	probably damaging	Het
Lrrc41	T	C	4: 116,096,466	L783P	probably damaging	Het
Map4k5	T	C	12: 69,841,963	D298G	probably benign	Het
Mapkbp1	T	C	2: 120,018,942	F712L	probably damaging	Het
Mcoln2	T	C	3: 146,163,527		probably benign	Het
Megf11	T	A	9: 64,681,416	S532R	probably benign	Het
Mkx	T	C	18: 6,937,192	D284G	probably benign	Het
Mmp16	A	G	4: 18,116,185	I596M	probably damaging	Het
Msto1	C	A	3: 88,913,686	R34L	probably benign	Het
Mtmr9	A	G	14: 63,526,805	L491P	probably damaging	Het
Olfr1196	T	G	2: 88,700,966	Y121S	probably damaging	Het
Olfr12	T	C	1: 92,620,335	M143T	probably damaging	Het
Olfr917	T	A	9: 38,664,993	I284L	probably benign	Het
Otor	T	C	2: 143,078,612	V38A	possibly damaging	Het
Pcdhb12	G	T	18: 37,436,154	D118Y	probably damaging	Het
Prelp	T	C	1: 133,914,807	H200R	probably benign	Het
Prmt5	T	C	14: 54,509,877	Y481C	probably damaging	Het
Psg23	T	G	7: 18,614,540	D114A	probably damaging	Het
Ptger4	A	T	15: 5,242,758	Y127N	probably damaging	Het
Rabgap1l	C	A	1: 160,700,798	V385L	probably benign	Het
Rergl	T	A	6: 139,493,258	K191*	probably null	Het
Sart3	A	G	5: 113,759,250	F252S	probably damaging	Het
Sbno1	A	T	5: 124,381,706	S1169T	probably benign	Het
Serpinb8	C	T	1: 107,604,718	T180M	probably damaging	Het
Sipa1l1	G	A	12: 82,387,696	E747K	probably benign	Het
Sptb	T	A	12: 76,587,463	D2158V	probably benign	Het
Sycp2	T	G	2: 178,358,111	D1024A	probably benign	Het
Tbr1	T	G	2: 61,806,067	N262K	possibly damaging	Het
Tnrc6a	A	T	7: 123,171,494	I836F	probably benign	Het
Ttn	T	C	2: 76,938,747	E2823G	probably damaging	Het
Uqcrc1	T	A	9: 108,948,958	L441Q	possibly damaging	Het
Vmn1r180	T	C	7: 23,952,999	F196L	probably damaging	Het
Vmn2r111	T	C	17: 22,569,016	I451M	possibly damaging	Het
Zcchc7	A	T	4: 44,926,060	H353L	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
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
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

2013-10-07