Mutagenetix > Incidental Mutations

Incidental Mutation 'R2034:Bag6'

224389

Institutional Source

Beutler Lab

Gene Symbol

Bag6

Ensembl Gene

ENSMUSG00000024392

Gene Name

BCL2-associated athanogene 6

Synonyms

Scythe, G3, D17H6S52E, Bat3, 2410045D21Rik

MMRRC Submission

040041-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2034 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35135178-35147322 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35144692 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 784 (R784Q)

Ref Sequence

ENSEMBL: ENSMUSP00000129324 (fasta)

Gene Model

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

AlphaFold

Q9Z1R2

Predicted Effect

unknown
Transcript: ENSMUST00000025250
AA Change: R802Q

SMART Domains

Protein: ENSMUSP00000025250
Gene: ENSMUSG00000024392
AA Change: R802Q

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: R784Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129324
Gene: ENSMUSG00000024392
AA Change: R784Q

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: R779Q

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134175
Gene: ENSMUSG00000024392
AA Change: R779Q

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

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

unknown
Transcript: ENSMUST00000173550
AA Change: R819Q

SMART Domains

Protein: ENSMUSP00000134628
Gene: ENSMUSG00000024392
AA Change: R819Q

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

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

unknown
Transcript: ENSMUST00000174281
AA Change: R837Q

SMART Domains

Protein: ENSMUSP00000134425
Gene: ENSMUSG00000024392
AA Change: R837Q

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: 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

Meta Mutation Damage Score

0.0994

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (71/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	C	11: 69,900,559	I65V	probably benign	Het
Abca13	A	G	11: 9,292,628	N1497S	possibly damaging	Het
Afmid	C	A	11: 117,835,235	N184K	probably benign	Het
Ampd2	A	T	3: 108,077,363	I459N	possibly damaging	Het
Anapc1	T	C	2: 128,648,458	D1018G	possibly damaging	Het
Ano9	T	A	7: 141,108,135	I223F	probably damaging	Het
B3gnt6	A	G	7: 98,194,018	L245P	possibly damaging	Het
Brca1	C	G	11: 101,489,849	S1786T	probably benign	Het
Btbd3	T	G	2: 138,278,983	S26A	probably benign	Het
Cacna1d	C	A	14: 30,089,863	V1277L	probably damaging	Het
Casp12	C	T	9: 5,346,491	T6I	probably damaging	Het
Col7a1	T	C	9: 108,963,007	V1262A	unknown	Het
Crh	C	A	3: 19,694,098	G127C	probably damaging	Het
D5Ertd579e	A	T	5: 36,613,538	L64*	probably null	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Ddc	T	A	11: 11,880,456	I63L	probably benign	Het
Eif3a	C	T	19: 60,762,130		probably benign	Het
Fsip2	T	A	2: 82,989,494	N5190K	probably benign	Het
Gm5420	A	G	10: 21,691,613		noncoding transcript	Het
Grb14	A	G	2: 64,923,529		probably benign	Het
Gsap	A	T	5: 21,270,595	I545F	probably damaging	Het
Hectd1	A	T	12: 51,757,116		probably null	Het
Helz2	G	A	2: 181,232,578	P2041L	probably damaging	Het
Herc1	G	A	9: 66,441,972	A2038T	probably benign	Het
Il10	C	A	1: 131,024,185	Q152K	probably benign	Het
Klrg1	A	G	6: 122,279,637		probably null	Het
Lrig2	T	C	3: 104,494,092	T160A	probably benign	Het
Mmd2	A	T	5: 142,575,184		probably null	Het
Mmp2	C	T	8: 92,836,912	S338F	probably damaging	Het
Nalcn	T	G	14: 123,283,603	D1630A	probably benign	Het
Ncoa2	T	C	1: 13,164,983	S909G	probably benign	Het
Neb	A	T	2: 52,280,611	M1683K	possibly damaging	Het
Nfe2l3	A	G	6: 51,458,370	I637V	possibly damaging	Het
Npw	G	A	17: 24,658,268	S53F	probably damaging	Het
Nrbf2	A	T	10: 67,275,564		probably benign	Het
Nrros	C	T	16: 32,144,157	W311*	probably null	Het
Nup188	T	A	2: 30,310,085		probably benign	Het
Olfr1444	T	A	19: 12,861,787	M4K	possibly damaging	Het
Olfr726	T	C	14: 50,083,983	M233V	probably benign	Het
Parp4	A	T	14: 56,634,263	I1133F	probably damaging	Het
Pcdhb11	T	C	18: 37,422,493	V292A	probably benign	Het
Pcnx2	A	G	8: 125,818,667		probably null	Het
Phf2	A	G	13: 48,817,730	S489P	unknown	Het
Pik3r5	T	A	11: 68,493,577	N598K	probably damaging	Het
Pikfyve	A	T	1: 65,222,357	E432D	probably damaging	Het
Pink1	T	C	4: 138,318,032	I274V	possibly damaging	Het
Pkhd1	G	A	1: 20,200,669	T3220I	probably damaging	Het
Plxna2	A	G	1: 194,780,594	I890V	probably benign	Het
Pomgnt1	T	C	4: 116,157,927	V492A	possibly damaging	Het
Prp2	G	T	6: 132,595,984		probably null	Het
Rabl6	T	C	2: 25,585,432	E543G	possibly damaging	Het
Rgp1	T	A	4: 43,581,605		probably null	Het
Rps6kb2	T	C	19: 4,161,107	T140A	probably damaging	Het
S100a11	T	C	3: 93,526,122	I91T	probably benign	Het
Serpine2	A	G	1: 79,796,852	L230P	probably damaging	Het
Sh3tc2	A	G	18: 61,987,666	D370G	probably damaging	Het
Sim2	A	C	16: 94,085,942	I43L	probably damaging	Het
Skp2	C	A	15: 9,113,698	G376C	probably damaging	Het
Slc14a2	A	G	18: 78,183,583	L419P	probably damaging	Het
Srgap1	C	T	10: 121,792,746	E817K	probably damaging	Het
Stag3	A	G	5: 138,298,001	E442G	possibly damaging	Het
Sulf1	A	G	1: 12,820,421	N361S	probably damaging	Het
Tmco6	A	G	18: 36,737,856		probably null	Het
Tmem104	T	A	11: 115,243,547	I303N	probably benign	Het
Ttll6	G	T	11: 96,135,526	D86Y	probably damaging	Het
Vmn1r120	T	G	7: 21,052,958	E276A	possibly damaging	Het
Vmn1r64	A	G	7: 5,883,989	M185T	probably benign	Het
Vmn2r85	A	T	10: 130,426,373		probably benign	Het
Vwa3a	A	T	7: 120,782,645	K568*	probably null	Het
Zcchc11	C	T	4: 108,512,195	R651W	probably damaging	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
IGL01613:Bag6	APN	17	35143016	unclassified	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CAGTTTGGGGAAATAGCAGCC -3'
(R):5'- CTGAAGCACAACTTTCACTGTC -3'

Sequencing Primer
(F):5'- AGTGGCCCTCCTTTACTAGTAAGATG -3'
(R):5'- CTGTCTAACAGGCAGGCAG -3'

Posted On

2014-08-25