Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00333:Bag6'

3860

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bag6

Ensembl Gene

ENSMUSG00000024392

Gene Name

BCL2-associated athanogene 6

Synonyms

2410045D21Rik, G3, D17H6S52E, Bat3, Scythe

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00333

Quality Score

Status

Chromosome

Chromosomal Location

35354154-35366298 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 35363627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 770 (D770E)

Ref Sequence

ENSEMBL: ENSMUSP00000129324 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025250] [ENSMUST00000025253] [ENSMUST00000166426] [ENSMUST00000172571] [ENSMUST00000173550] [ENSMUST00000174281] [ENSMUST00000173491] [ENSMUST00000173952] [ENSMUST00000174805] [ENSMUST00000173535]

AlphaFold

Q9Z1R2

Predicted Effect

unknown
Transcript: ENSMUST00000025250
AA Change: D788E

SMART Domains

Protein: ENSMUSP00000025250
Gene: ENSMUSG00000024392
AA Change: D788E

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: ENSMUST00000025253

SMART Domains

Protein: ENSMUSP00000025253
Gene: ENSMUSG00000024393

Domain	Start	End	E-Value	Type
Pfam:BAT2_N	1	189	1.2e-70	PFAM
low complexity region	243	276	N/A	INTRINSIC
low complexity region	343	357	N/A	INTRINSIC
low complexity region	396	413	N/A	INTRINSIC
low complexity region	422	434	N/A	INTRINSIC
coiled coil region	455	494	N/A	INTRINSIC
low complexity region	504	523	N/A	INTRINSIC
low complexity region	527	566	N/A	INTRINSIC
low complexity region	593	618	N/A	INTRINSIC
low complexity region	643	684	N/A	INTRINSIC
low complexity region	687	709	N/A	INTRINSIC
low complexity region	711	717	N/A	INTRINSIC
low complexity region	755	768	N/A	INTRINSIC
low complexity region	826	833	N/A	INTRINSIC
low complexity region	861	871	N/A	INTRINSIC
low complexity region	882	894	N/A	INTRINSIC
low complexity region	902	924	N/A	INTRINSIC
low complexity region	944	966	N/A	INTRINSIC
low complexity region	1032	1070	N/A	INTRINSIC
low complexity region	1129	1149	N/A	INTRINSIC
low complexity region	1162	1179	N/A	INTRINSIC
low complexity region	1190	1211	N/A	INTRINSIC
low complexity region	1234	1242	N/A	INTRINSIC
low complexity region	1285	1300	N/A	INTRINSIC
low complexity region	1346	1360	N/A	INTRINSIC
low complexity region	1394	1424	N/A	INTRINSIC
low complexity region	1430	1456	N/A	INTRINSIC
low complexity region	1488	1511	N/A	INTRINSIC
low complexity region	1553	1565	N/A	INTRINSIC
low complexity region	1693	1713	N/A	INTRINSIC
internal_repeat_1	1810	1860	5.56e-5	PROSPERO
low complexity region	1879	1895	N/A	INTRINSIC
internal_repeat_1	1924	1983	5.56e-5	PROSPERO
low complexity region	1995	2017	N/A	INTRINSIC
low complexity region	2019	2041	N/A	INTRINSIC
low complexity region	2070	2086	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000166426
AA Change: D770E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129324
Gene: ENSMUSG00000024392
AA Change: D770E

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 damaging
Transcript: ENSMUST00000172571
AA Change: D765E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134175
Gene: ENSMUSG00000024392
AA Change: D765E

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: ENSMUST00000172925

Predicted Effect

probably benign
Transcript: ENSMUST00000172993

Predicted Effect

unknown
Transcript: ENSMUST00000173550
AA Change: D805E

SMART Domains

Protein: ENSMUSP00000134628
Gene: ENSMUSG00000024392
AA Change: D805E

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

unknown
Transcript: ENSMUST00000174281
AA Change: D823E

SMART Domains

Protein: ENSMUSP00000134425
Gene: ENSMUSG00000024392
AA Change: D823E

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: ENSMUST00000173351

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173558

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174797

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174613

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000174805

SMART Domains

Protein: ENSMUSP00000133550
Gene: ENSMUSG00000024393

Domain	Start	End	E-Value	Type
Pfam:BAT2_N	1	137	6.6e-53	PFAM
low complexity region	188	221	N/A	INTRINSIC
low complexity region	288	302	N/A	INTRINSIC
low complexity region	341	358	N/A	INTRINSIC
low complexity region	367	379	N/A	INTRINSIC
coiled coil region	400	439	N/A	INTRINSIC
low complexity region	449	468	N/A	INTRINSIC
low complexity region	472	511	N/A	INTRINSIC
low complexity region	538	563	N/A	INTRINSIC
low complexity region	588	629	N/A	INTRINSIC
low complexity region	632	654	N/A	INTRINSIC
low complexity region	656	662	N/A	INTRINSIC
low complexity region	700	713	N/A	INTRINSIC
low complexity region	771	778	N/A	INTRINSIC
low complexity region	806	816	N/A	INTRINSIC
low complexity region	827	839	N/A	INTRINSIC
low complexity region	847	869	N/A	INTRINSIC
low complexity region	889	911	N/A	INTRINSIC
low complexity region	977	1015	N/A	INTRINSIC
low complexity region	1074	1094	N/A	INTRINSIC
low complexity region	1107	1124	N/A	INTRINSIC
low complexity region	1135	1156	N/A	INTRINSIC
low complexity region	1179	1187	N/A	INTRINSIC
low complexity region	1230	1245	N/A	INTRINSIC
low complexity region	1291	1305	N/A	INTRINSIC
low complexity region	1339	1369	N/A	INTRINSIC
low complexity region	1375	1401	N/A	INTRINSIC
low complexity region	1433	1456	N/A	INTRINSIC
low complexity region	1498	1510	N/A	INTRINSIC
low complexity region	1638	1658	N/A	INTRINSIC
internal_repeat_1	1755	1804	3.99e-5	PROSPERO
low complexity region	1823	1839	N/A	INTRINSIC
internal_repeat_1	1868	1927	3.99e-5	PROSPERO
low complexity region	1939	1961	N/A	INTRINSIC
low complexity region	1963	1985	N/A	INTRINSIC
low complexity region	2014	2030	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

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atosa	T	C	9: 74,933,072 (GRCm39)	I1006T	probably benign	Het
Atp8b3	C	T	10: 80,366,821 (GRCm39)	C259Y	probably damaging	Het
Ccdc8	T	A	7: 16,729,967 (GRCm39)	D485E	unknown	Het
Cyp2c54	A	C	19: 40,060,522 (GRCm39)	V153G	probably damaging	Het
Haus8	A	G	8: 71,708,289 (GRCm39)		probably null	Het
Hgf	A	T	5: 16,816,880 (GRCm39)	T499S	possibly damaging	Het
Ifitm1	T	A	7: 140,549,537 (GRCm39)	*107R	probably null	Het
Kcnq4	G	A	4: 120,555,213 (GRCm39)	Q657*	probably null	Het
Klk1b27	T	A	7: 43,705,567 (GRCm39)		probably null	Het
Lpin2	C	A	17: 71,550,967 (GRCm39)	T709K	probably damaging	Het
Lrig3	T	C	10: 125,849,017 (GRCm39)	L945P	probably benign	Het
Lrrn4	C	T	2: 132,712,737 (GRCm39)	C362Y	probably damaging	Het
Map3k20	T	C	2: 72,202,320 (GRCm39)	S184P	probably damaging	Het
Nr2f1	A	T	13: 78,337,952 (GRCm39)	V231E	probably damaging	Het
Or12d13	A	T	17: 37,647,474 (GRCm39)	Y216*	probably null	Het
Orc1	T	C	4: 108,452,522 (GRCm39)		probably benign	Het
Osr1	A	C	12: 9,629,432 (GRCm39)	I102L	probably benign	Het
Pcbd1	A	T	10: 60,927,949 (GRCm39)	Q37L	probably benign	Het
Pclo	C	T	5: 14,571,691 (GRCm39)	Q359*	probably null	Het
Rpgrip1	A	T	14: 52,387,895 (GRCm39)		probably null	Het
Sox4	C	A	13: 29,136,956 (GRCm39)	G17W	probably damaging	Het
Speer4a2	A	G	5: 26,291,491 (GRCm39)	M105T	possibly damaging	Het
Sspo	A	G	6: 48,447,387 (GRCm39)	T2184A	probably benign	Het
Synpo2	C	T	3: 122,906,859 (GRCm39)	G819D	probably damaging	Het
Taar8b	A	G	10: 23,967,654 (GRCm39)	V180A	possibly damaging	Het
Tbc1d8	T	C	1: 39,433,210 (GRCm39)	D324G	probably damaging	Het
Tcaf2	A	T	6: 42,606,970 (GRCm39)	L328*	probably null	Het
Tmem253	T	C	14: 52,255,418 (GRCm39)	L76P	probably damaging	Het
Tsc1	G	A	2: 28,551,623 (GRCm39)	V46I	probably damaging	Het
Ttn	A	T	2: 76,779,425 (GRCm39)	F1152I	probably benign	Het
Txnrd2	T	C	16: 18,257,101 (GRCm39)	V139A	probably damaging	Het
Ublcp1	T	C	11: 44,351,597 (GRCm39)	D212G	probably damaging	Het
Utrn	A	T	10: 12,547,574 (GRCm39)	L1622Q	probably damaging	Het
Vmn2r103	A	G	17: 20,013,364 (GRCm39)	T162A	probably damaging	Het

Other mutations in Bag6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Bag6	APN	17	35,363,627 (GRCm39)	missense	probably damaging	1.00
IGL01613:Bag6	APN	17	35,361,992 (GRCm39)	unclassified	probably benign
IGL01735:Bag6	APN	17	35,364,737 (GRCm39)	unclassified	probably benign
IGL02146:Bag6	APN	17	35,355,191 (GRCm39)	missense	probably damaging	1.00
IGL03092:Bag6	APN	17	35,364,603 (GRCm39)	missense	probably damaging	1.00
IGL03377:Bag6	APN	17	35,363,958 (GRCm39)	missense	probably damaging	1.00
Hobbit	UTSW	17	35,364,898 (GRCm39)	critical splice donor site	probably null
Hunter	UTSW	17	35,364,214 (GRCm39)	splice site	probably null
R0196:Bag6	UTSW	17	35,363,239 (GRCm39)	missense	probably damaging	1.00
R0449:Bag6	UTSW	17	35,360,442 (GRCm39)	missense	probably damaging	1.00
R1228:Bag6	UTSW	17	35,364,309 (GRCm39)	missense	probably damaging	0.99
R1450:Bag6	UTSW	17	35,360,934 (GRCm39)	missense	probably benign	0.01
R1686:Bag6	UTSW	17	35,363,928 (GRCm39)	missense	possibly damaging	0.84
R1869:Bag6	UTSW	17	35,361,802 (GRCm39)	missense	probably benign	0.05
R2034:Bag6	UTSW	17	35,363,668 (GRCm39)	missense	probably damaging	0.99
R2205:Bag6	UTSW	17	35,363,583 (GRCm39)	missense	probably damaging	1.00
R2428:Bag6	UTSW	17	35,366,151 (GRCm39)	missense	probably damaging	1.00
R2987:Bag6	UTSW	17	35,364,661 (GRCm39)	nonsense	probably null
R4691:Bag6	UTSW	17	35,358,224 (GRCm39)	missense	probably damaging	1.00
R4705:Bag6	UTSW	17	35,361,319 (GRCm39)	missense	probably damaging	1.00
R4905:Bag6	UTSW	17	35,364,162 (GRCm39)	missense	probably damaging	1.00
R5001:Bag6	UTSW	17	35,364,152 (GRCm39)	missense	probably damaging	1.00
R5168:Bag6	UTSW	17	35,363,671 (GRCm39)	missense	probably damaging	1.00
R5808:Bag6	UTSW	17	35,365,298 (GRCm39)	missense	probably damaging	1.00
R6118:Bag6	UTSW	17	35,362,600 (GRCm39)	missense	probably damaging	0.99
R6212:Bag6	UTSW	17	35,359,278 (GRCm39)	missense	probably benign	0.17
R6279:Bag6	UTSW	17	35,357,577 (GRCm39)	missense	probably damaging	1.00
R6300:Bag6	UTSW	17	35,357,577 (GRCm39)	missense	probably damaging	1.00
R6564:Bag6	UTSW	17	35,359,347 (GRCm39)	missense	probably damaging	0.98
R6783:Bag6	UTSW	17	35,363,211 (GRCm39)	missense	possibly damaging	0.94
R6927:Bag6	UTSW	17	35,364,898 (GRCm39)	critical splice donor site	probably null
R7226:Bag6	UTSW	17	35,361,921 (GRCm39)	missense	unknown
R7490:Bag6	UTSW	17	35,359,818 (GRCm39)	missense	unknown
R7499:Bag6	UTSW	17	35,363,368 (GRCm39)	missense	probably benign	0.29
R7688:Bag6	UTSW	17	35,365,868 (GRCm39)	missense	probably damaging	0.99
R8016:Bag6	UTSW	17	35,357,733 (GRCm39)	missense	unknown
R8066:Bag6	UTSW	17	35,361,283 (GRCm39)	missense	unknown
R8189:Bag6	UTSW	17	35,364,214 (GRCm39)	splice site	probably null
R8424:Bag6	UTSW	17	35,365,830 (GRCm39)	missense	probably damaging	1.00
R8542:Bag6	UTSW	17	35,363,334 (GRCm39)	missense	probably damaging	1.00
R8838:Bag6	UTSW	17	35,363,367 (GRCm39)	missense	probably damaging	1.00
R8850:Bag6	UTSW	17	35,361,041 (GRCm39)	missense	unknown
R9022:Bag6	UTSW	17	35,363,641 (GRCm39)	missense	probably damaging	1.00
R9028:Bag6	UTSW	17	35,363,130 (GRCm39)	missense	probably benign	0.01
R9128:Bag6	UTSW	17	35,363,688 (GRCm39)	missense	probably damaging	0.97
R9135:Bag6	UTSW	17	35,362,437 (GRCm39)	missense	unknown
R9186:Bag6	UTSW	17	35,363,667 (GRCm39)	missense	probably damaging	1.00
X0025:Bag6	UTSW	17	35,365,053 (GRCm39)	nonsense	probably null
Z1176:Bag6	UTSW	17	35,358,286 (GRCm39)	critical splice donor site	probably null
Z1177:Bag6	UTSW	17	35,361,900 (GRCm39)	missense	unknown

Posted On

2012-04-20