Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01613:Bag6'

92279

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bag6

Ensembl Gene

ENSMUSG00000024392

Gene Name

BCL2-associated athanogene 6

Synonyms

Scythe, G3, D17H6S52E, Bat3, 2410045D21Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01613

Quality Score

Status

Chromosome

Chromosomal Location

35135178-35147322 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 35143016 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025250] [ENSMUST00000166426] [ENSMUST00000172571] [ENSMUST00000173491] [ENSMUST00000173535] [ENSMUST00000173550] [ENSMUST00000174281] [ENSMUST00000174478] [ENSMUST00000173952]

AlphaFold

Q9Z1R2

Predicted Effect

probably benign
Transcript: ENSMUST00000025250

SMART Domains

Protein: ENSMUSP00000025250
Gene: ENSMUSG00000024392

Domain	Start	End	E-Value	Type
UBQ	17	87	5.62e-22	SMART
low complexity region	96	112	N/A	INTRINSIC
low complexity region	189	206	N/A	INTRINSIC
low complexity region	220	239	N/A	INTRINSIC
low complexity region	246	264	N/A	INTRINSIC
Pfam:DUF3538	277	393	1.7e-44	PFAM
low complexity region	427	438	N/A	INTRINSIC
low complexity region	557	625	N/A	INTRINSIC
low complexity region	632	648	N/A	INTRINSIC
low complexity region	673	721	N/A	INTRINSIC
low complexity region	725	747	N/A	INTRINSIC
low complexity region	765	780	N/A	INTRINSIC
low complexity region	798	808	N/A	INTRINSIC
low complexity region	1029	1042	N/A	INTRINSIC
low complexity region	1088	1098	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166426

SMART Domains

Protein: ENSMUSP00000129324
Gene: ENSMUSG00000024392

Domain	Start	End	E-Value	Type
UBQ	17	87	5.62e-22	SMART
low complexity region	96	112	N/A	INTRINSIC
low complexity region	171	188	N/A	INTRINSIC
low complexity region	202	221	N/A	INTRINSIC
low complexity region	228	246	N/A	INTRINSIC
Pfam:DUF3538	259	375	3.7e-53	PFAM
low complexity region	409	420	N/A	INTRINSIC
low complexity region	539	607	N/A	INTRINSIC
low complexity region	614	630	N/A	INTRINSIC
low complexity region	655	703	N/A	INTRINSIC
low complexity region	707	729	N/A	INTRINSIC
low complexity region	747	762	N/A	INTRINSIC
low complexity region	780	790	N/A	INTRINSIC
low complexity region	1011	1024	N/A	INTRINSIC
low complexity region	1070	1080	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172571

SMART Domains

Protein: ENSMUSP00000134175
Gene: ENSMUSG00000024392

Domain	Start	End	E-Value	Type
UBQ	17	87	5.62e-22	SMART
low complexity region	96	112	N/A	INTRINSIC
low complexity region	171	188	N/A	INTRINSIC
low complexity region	202	221	N/A	INTRINSIC
low complexity region	228	252	N/A	INTRINSIC
Pfam:DUF3538	254	370	3.5e-53	PFAM
low complexity region	404	415	N/A	INTRINSIC
low complexity region	534	602	N/A	INTRINSIC
low complexity region	609	625	N/A	INTRINSIC
low complexity region	650	698	N/A	INTRINSIC
low complexity region	702	724	N/A	INTRINSIC
low complexity region	742	757	N/A	INTRINSIC
low complexity region	775	785	N/A	INTRINSIC
low complexity region	1006	1019	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172889

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172925

Predicted Effect

probably benign
Transcript: ENSMUST00000172993

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173351

Predicted Effect

probably benign
Transcript: ENSMUST00000173491

SMART Domains

Protein: ENSMUSP00000134279
Gene: ENSMUSG00000024392

Domain	Start	End	E-Value	Type
UBQ	17	87	5.62e-22	SMART
low complexity region	96	112	N/A	INTRINSIC
low complexity region	189	206	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173535

SMART Domains

Protein: ENSMUSP00000133822
Gene: ENSMUSG00000024392

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	20	29	N/A	INTRINSIC
low complexity region	30	45	N/A	INTRINSIC
UBQ	58	128	5.62e-22	SMART
low complexity region	137	153	N/A	INTRINSIC
low complexity region	230	247	N/A	INTRINSIC
low complexity region	261	280	N/A	INTRINSIC
low complexity region	287	305	N/A	INTRINSIC
Pfam:DUF3538	318	434	1.3e-53	PFAM
low complexity region	468	479	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173550

SMART Domains

Protein: ENSMUSP00000134628
Gene: ENSMUSG00000024392

Domain	Start	End	E-Value	Type
UBQ	17	87	5.62e-22	SMART
low complexity region	96	112	N/A	INTRINSIC
low complexity region	171	188	N/A	INTRINSIC
low complexity region	202	221	N/A	INTRINSIC
low complexity region	228	246	N/A	INTRINSIC
Pfam:DUF3538	259	375	3.7e-53	PFAM
low complexity region	409	420	N/A	INTRINSIC
low complexity region	496	511	N/A	INTRINSIC
low complexity region	574	642	N/A	INTRINSIC
low complexity region	649	665	N/A	INTRINSIC
low complexity region	690	738	N/A	INTRINSIC
low complexity region	742	764	N/A	INTRINSIC
low complexity region	782	797	N/A	INTRINSIC
low complexity region	815	825	N/A	INTRINSIC
low complexity region	1046	1059	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174281

SMART Domains

Protein: ENSMUSP00000134425
Gene: ENSMUSG00000024392

Domain	Start	End	E-Value	Type
UBQ	17	87	5.62e-22	SMART
low complexity region	96	112	N/A	INTRINSIC
low complexity region	189	206	N/A	INTRINSIC
low complexity region	220	239	N/A	INTRINSIC
low complexity region	246	264	N/A	INTRINSIC
Pfam:DUF3538	277	393	3.6e-53	PFAM
low complexity region	427	438	N/A	INTRINSIC
low complexity region	514	529	N/A	INTRINSIC
low complexity region	592	660	N/A	INTRINSIC
low complexity region	667	683	N/A	INTRINSIC
low complexity region	708	756	N/A	INTRINSIC
low complexity region	760	782	N/A	INTRINSIC
low complexity region	800	815	N/A	INTRINSIC
low complexity region	833	843	N/A	INTRINSIC
low complexity region	1064	1077	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174797

Predicted Effect

probably benign
Transcript: ENSMUST00000174478

SMART Domains

Protein: ENSMUSP00000138117
Gene: ENSMUSG00000024392

Domain	Start	End	E-Value	Type
UBQ	17	87	5.62e-22	SMART
low complexity region	96	112	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173952

SMART Domains

Protein: ENSMUSP00000134717
Gene: ENSMUSG00000024392

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	20	29	N/A	INTRINSIC
low complexity region	30	45	N/A	INTRINSIC
UBQ	58	128	5.62e-22	SMART
low complexity region	137	153	N/A	INTRINSIC
low complexity region	212	229	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was first characterized as part of a cluster of genes located within the human major histocompatibility complex class III region. This gene encodes a nuclear protein that is cleaved by caspase 3 and is implicated in the control of apoptosis. In addition, the protein forms a complex with E1A binding protein p300 and is required for the acetylation of p53 in response to DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted disruption of this gene results in either embryonic lethality following abnormal brain development or neonatal death associated with severe developmental defects in the lung and kidney. These developmental defects are associated with widespread aberrant apoptosis and proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	G	5: 125,512,652	M446R	possibly damaging	Het
Abca16	A	G	7: 120,541,277	N1599S	probably benign	Het
Ankib1	G	A	5: 3,713,146	Q528*	probably null	Het
Ano10	A	T	9: 122,259,540	L347M	possibly damaging	Het
Bpnt1	T	C	1: 185,353,994	V182A	possibly damaging	Het
Capn13	G	T	17: 73,331,058	T450N	probably benign	Het
Cbr3	A	T	16: 93,683,443	E40V	probably benign	Het
Cdk10	T	C	8: 123,228,387	I159T	probably damaging	Het
Cela3b	T	C	4: 137,425,071	D65G	possibly damaging	Het
Csf2rb	T	G	15: 78,335,302		probably benign	Het
Cyp2b19	C	T	7: 26,763,461	T256I	possibly damaging	Het
Dpp9	T	C	17: 56,190,713	H687R	probably benign	Het
Elovl1	T	C	4: 118,431,270	V108A	probably benign	Het
Emb	T	A	13: 117,272,078	N318K	probably damaging	Het
Ermp1	A	G	19: 29,639,939	L36P	probably damaging	Het
Esco2	T	G	14: 65,826,595	H380P	possibly damaging	Het
Gm5724	G	T	6: 141,713,214	T552K	possibly damaging	Het
Gm9747	G	A	1: 82,234,088		probably benign	Het
Golga1	A	G	2: 39,020,126	M603T	probably benign	Het
Hsph1	A	G	5: 149,627,278	V411A	probably benign	Het
Igsf21	C	T	4: 140,107,364	G66S	possibly damaging	Het
Ints11	T	C	4: 155,885,198		probably null	Het
Jakmip1	G	T	5: 37,100,768	A253S	probably damaging	Het
Met	A	G	6: 17,540,577	Y834C	probably damaging	Het
Mgl2	A	G	11: 70,134,158	T2A	probably benign	Het
Myh2	G	T	11: 67,197,344	V1929L	probably benign	Het
Myh8	T	C	11: 67,301,710	S1472P	probably benign	Het
Myo1e	T	C	9: 70,341,273		probably benign	Het
Ndufaf7	A	G	17: 78,937,502	I17V	probably benign	Het
Olfr1046	T	G	2: 86,217,161	D183A	probably damaging	Het
Olfr1256	T	C	2: 89,835,808	T46A	probably damaging	Het
Olfr193	A	T	16: 59,109,921	S230T	probably damaging	Het
Olfr804	A	G	10: 129,705,623	I248M	probably benign	Het
Olfr830	T	A	9: 18,875,321		probably benign	Het
Olfr914	A	G	9: 38,606,554	I30V	probably null	Het
Olfr992	C	T	2: 85,400,171	D121N	probably damaging	Het
Ppef2	T	C	5: 92,235,820	E477G	probably benign	Het
Scmh1	T	A	4: 120,529,900		probably benign	Het
Scn1a	C	A	2: 66,285,937	D1473Y	probably damaging	Het
Sdr42e1	C	T	8: 117,662,937	V322I	probably benign	Het
Spta1	G	A	1: 174,208,394	A1089T	probably damaging	Het
Sufu	T	C	19: 46,475,620	Y424H	probably damaging	Het
Tgs1	T	C	4: 3,585,183	F108L	possibly damaging	Het
Ttn	T	C	2: 76,974,964	N177S	probably benign	Het
Tyk2	T	C	9: 21,120,576	D401G	probably damaging	Het
Vav1	T	C	17: 57,307,067	F650L	possibly damaging	Het
Wdr12	T	C	1: 60,080,559	H385R	probably damaging	Het
Xab2	T	C	8: 3,610,880	M745V	probably benign	Het

Other mutations in Bag6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Bag6	APN	17	35144651	missense	probably damaging	1.00
IGL00489:Bag6	APN	17	35144651	missense	probably damaging	1.00
IGL01735:Bag6	APN	17	35145761	unclassified	probably benign
IGL02146:Bag6	APN	17	35136215	missense	probably damaging	1.00
IGL03092:Bag6	APN	17	35145627	missense	probably damaging	1.00
IGL03377:Bag6	APN	17	35144982	missense	probably damaging	1.00
Hobbit	UTSW	17	35145922	critical splice donor site	probably null
Hunter	UTSW	17	35145238	splice site	probably null
R0196:Bag6	UTSW	17	35144263	missense	probably damaging	1.00
R0449:Bag6	UTSW	17	35141466	missense	probably damaging	1.00
R1228:Bag6	UTSW	17	35145333	missense	probably damaging	0.99
R1450:Bag6	UTSW	17	35141958	missense	probably benign	0.01
R1686:Bag6	UTSW	17	35144952	missense	possibly damaging	0.84
R1869:Bag6	UTSW	17	35142826	missense	probably benign	0.05
R2034:Bag6	UTSW	17	35144692	missense	probably damaging	0.99
R2205:Bag6	UTSW	17	35144607	missense	probably damaging	1.00
R2428:Bag6	UTSW	17	35147175	missense	probably damaging	1.00
R2987:Bag6	UTSW	17	35145685	nonsense	probably null
R4691:Bag6	UTSW	17	35139248	missense	probably damaging	1.00
R4705:Bag6	UTSW	17	35142343	missense	probably damaging	1.00
R4905:Bag6	UTSW	17	35145186	missense	probably damaging	1.00
R5001:Bag6	UTSW	17	35145176	missense	probably damaging	1.00
R5168:Bag6	UTSW	17	35144695	missense	probably damaging	1.00
R5808:Bag6	UTSW	17	35146322	missense	probably damaging	1.00
R6118:Bag6	UTSW	17	35143624	missense	probably damaging	0.99
R6212:Bag6	UTSW	17	35140302	missense	probably benign	0.17
R6279:Bag6	UTSW	17	35138601	missense	probably damaging	1.00
R6300:Bag6	UTSW	17	35138601	missense	probably damaging	1.00
R6564:Bag6	UTSW	17	35140371	missense	probably damaging	0.98
R6783:Bag6	UTSW	17	35144235	missense	possibly damaging	0.94
R6927:Bag6	UTSW	17	35145922	critical splice donor site	probably null
R7226:Bag6	UTSW	17	35142945	missense	unknown
R7490:Bag6	UTSW	17	35140842	missense	unknown
R7499:Bag6	UTSW	17	35144392	missense	probably benign	0.29
R7688:Bag6	UTSW	17	35146892	missense	probably damaging	0.99
R8016:Bag6	UTSW	17	35138757	missense	unknown
R8066:Bag6	UTSW	17	35142307	missense	unknown
R8189:Bag6	UTSW	17	35145238	splice site	probably null
R8424:Bag6	UTSW	17	35146854	missense	probably damaging	1.00
R8542:Bag6	UTSW	17	35144358	missense	probably damaging	1.00
R8838:Bag6	UTSW	17	35144391	missense	probably damaging	1.00
R8850:Bag6	UTSW	17	35142065	missense	unknown
R9022:Bag6	UTSW	17	35144665	missense	probably damaging	1.00
R9028:Bag6	UTSW	17	35144154	missense	probably benign	0.01
R9128:Bag6	UTSW	17	35144712	missense	probably damaging	0.97
R9135:Bag6	UTSW	17	35143461	missense	unknown
R9186:Bag6	UTSW	17	35144691	missense	probably damaging	1.00
X0025:Bag6	UTSW	17	35146077	nonsense	probably null
Z1176:Bag6	UTSW	17	35139310	critical splice donor site	probably null
Z1177:Bag6	UTSW	17	35142924	missense	unknown

Posted On

2013-12-09