Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03377:Bag6'

420526

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 #

IGL03377

Quality Score

Status

Chromosome

Chromosomal Location

35354154-35366298 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35363958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 822 (Y822H)

Ref Sequence

ENSEMBL: ENSMUSP00000129324 (fasta)

Gene Model

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

AlphaFold

Q9Z1R2

Predicted Effect

unknown
Transcript: ENSMUST00000025250
AA Change: Y840H

SMART Domains

Protein: ENSMUSP00000025250
Gene: ENSMUSG00000024392
AA Change: Y840H

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: Y822H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129324
Gene: ENSMUSG00000024392
AA Change: Y822H

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: Y817H

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

SMART Domains

Protein: ENSMUSP00000134175
Gene: ENSMUSG00000024392
AA Change: Y817H

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

probably benign
Transcript: ENSMUST00000172993

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173351

Predicted Effect

unknown
Transcript: ENSMUST00000174281
AA Change: Y875H

SMART Domains

Protein: ENSMUSP00000134425
Gene: ENSMUSG00000024392
AA Change: Y875H

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

unknown
Transcript: ENSMUST00000173550
AA Change: Y857H

SMART Domains

Protein: ENSMUSP00000134628
Gene: ENSMUSG00000024392
AA Change: Y857H

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

noncoding transcript
Transcript: ENSMUST00000173558

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174797

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: 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

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	A	5: 105,096,256 (GRCm39)	I489L	probably benign	Het
Acox3	T	C	5: 35,751,676 (GRCm39)	L237P	probably damaging	Het
Ahi1	T	G	10: 20,893,903 (GRCm39)	I878S	possibly damaging	Het
Alox15	T	A	11: 70,240,488 (GRCm39)	Y231F	probably damaging	Het
Asxl1	A	T	2: 153,238,700 (GRCm39)	K342M	probably damaging	Het
Atl2	T	C	17: 80,172,519 (GRCm39)	I150M	probably damaging	Het
Ccdc171	T	C	4: 83,581,754 (GRCm39)	Y628H	probably damaging	Het
Ceacam5	T	A	7: 17,449,056 (GRCm39)	Y141N	probably benign	Het
Ces1a	A	G	8: 93,766,116 (GRCm39)	V166A	probably damaging	Het
Chrdl2	G	A	7: 99,671,259 (GRCm39)	A126T	probably benign	Het
Cyp2d26	T	C	15: 82,674,755 (GRCm39)	E409G	possibly damaging	Het
Dicer1	T	C	12: 104,678,456 (GRCm39)	I621V	probably damaging	Het
Enpp1	T	A	10: 24,536,181 (GRCm39)		probably null	Het
Epha2	T	A	4: 141,049,723 (GRCm39)	S776R	probably benign	Het
Fam107b	A	T	2: 3,779,481 (GRCm39)	E52V	probably damaging	Het
Fam169a	A	G	13: 97,228,381 (GRCm39)	N18S	probably benign	Het
Fbxw21	A	T	9: 108,968,597 (GRCm39)	F460I	probably benign	Het
Fgfr2	A	T	7: 129,800,247 (GRCm39)	I329N	probably damaging	Het
Fndc7	T	C	3: 108,783,848 (GRCm39)	S254G	probably benign	Het
Glis1	T	G	4: 107,489,478 (GRCm39)	H688Q	probably damaging	Het
Grip1	A	G	10: 119,890,937 (GRCm39)	E898G	probably damaging	Het
Gtf2a1l	T	A	17: 89,019,021 (GRCm39)	D368E	probably benign	Het
Gucy1a1	T	A	3: 82,013,322 (GRCm39)	H440L	probably damaging	Het
H2-M10.5	A	T	17: 37,084,377 (GRCm39)	D113V	probably benign	Het
Hook2	G	T	8: 85,727,964 (GRCm39)	E554*	probably null	Het
Itpr2	A	C	6: 146,231,213 (GRCm39)	V1182G	probably damaging	Het
Itpr2	T	A	6: 146,231,256 (GRCm39)	T1135S	probably benign	Het
Kdm4c	T	C	4: 74,189,492 (GRCm39)	I69T	possibly damaging	Het
Klhl31	A	T	9: 77,558,345 (GRCm39)	K354*	probably null	Het
Krt222	T	A	11: 99,127,339 (GRCm39)	K159*	probably null	Het
Loxhd1	A	G	18: 77,529,369 (GRCm39)	E2004G	possibly damaging	Het
Man2a2	A	T	7: 80,008,800 (GRCm39)		probably null	Het
Med24	A	G	11: 98,595,962 (GRCm39)	F963L	possibly damaging	Het
Mphosph8	A	G	14: 56,930,943 (GRCm39)	E744G	probably damaging	Het
Mypn	A	G	10: 63,028,644 (GRCm39)	S140P	probably benign	Het
Npc1	A	G	18: 12,344,878 (GRCm39)	F331L	probably benign	Het
Obscn	C	A	11: 58,890,699 (GRCm39)	G1798W	probably damaging	Het
Or5d18	A	T	2: 87,864,589 (GRCm39)	V298D	probably damaging	Het
Patj	C	T	4: 98,353,341 (GRCm39)	P110L	probably damaging	Het
Pkhd1l1	T	G	15: 44,347,747 (GRCm39)		probably null	Het
Prdm5	A	G	6: 65,836,457 (GRCm39)	H256R	possibly damaging	Het
Ralgps1	A	G	2: 33,062,473 (GRCm39)	Y267H	probably damaging	Het
Rfpl4	T	G	7: 5,113,464 (GRCm39)	Y239S	probably damaging	Het
Rnpepl1	A	T	1: 92,846,953 (GRCm39)	M592L	probably benign	Het
Serpinc1	A	T	1: 160,821,012 (GRCm39)	H32L	probably damaging	Het
Skint5	T	A	4: 113,620,735 (GRCm39)	T660S	unknown	Het
Slc26a2	T	C	18: 61,331,658 (GRCm39)	N591S	probably damaging	Het
Slc9b2	C	T	3: 135,042,119 (GRCm39)	A466V	probably damaging	Het
Slco1a5	T	A	6: 142,180,492 (GRCm39)	T637S	probably benign	Het
Snx25	A	G	8: 46,533,338 (GRCm39)		probably benign	Het
Szt2	T	C	4: 118,259,594 (GRCm39)		probably benign	Het
Vmn1r183	A	G	7: 23,754,817 (GRCm39)	M207V	possibly damaging	Het
Wdcp	T	G	12: 4,900,691 (GRCm39)	Y182*	probably null	Het
Zc3h13	A	G	14: 75,531,416 (GRCm39)	T105A	possibly damaging	Het
Zfp933	T	C	4: 147,913,168 (GRCm39)	K30R	possibly damaging	Het

Other mutations in Bag6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Bag6	APN	17	35,363,627 (GRCm39)	missense	probably damaging	1.00
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
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

2016-08-02