Mutagenetix > Incidental Mutations

Incidental Mutation 'R0449:Bag6'

39564

Institutional Source

Beutler Lab

Gene Symbol

Bag6

Ensembl Gene

ENSMUSG00000024392

Gene Name

BCL2-associated athanogene 6

Synonyms

Scythe, G3, D17H6S52E, Bat3, 2410045D21Rik

MMRRC Submission

038649-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0449 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35135178-35147322 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 35141466 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 327 (V327G)

Ref Sequence

ENSEMBL: ENSMUSP00000134425 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000025250
AA Change: V327G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025250
Gene: ENSMUSG00000024392
AA Change: V327G

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

unknown
Transcript: ENSMUST00000166426
AA Change: V309G

SMART Domains

Protein: ENSMUSP00000129324
Gene: ENSMUSG00000024392
AA Change: V309G

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

unknown
Transcript: ENSMUST00000172571
AA Change: V304G

SMART Domains

Protein: ENSMUSP00000134175
Gene: ENSMUSG00000024392
AA Change: V304G

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 damaging
Transcript: ENSMUST00000173535
AA Change: V368G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133822
Gene: ENSMUSG00000024392
AA Change: V368G

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 damaging
Transcript: ENSMUST00000173550
AA Change: V309G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134628
Gene: ENSMUSG00000024392
AA Change: V309G

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: 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 damaging
Transcript: ENSMUST00000174281
AA Change: V327G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134425
Gene: ENSMUSG00000024392
AA Change: V327G

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

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

noncoding transcript
Transcript: ENSMUST00000174613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174797

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.7%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,939,885	R813*	probably null	Het
Accsl	T	A	2: 93,866,074	I60F	probably benign	Het
Adam29	C	T	8: 55,872,681	G246D	probably benign	Het
Ankrd13c	A	G	3: 157,991,714	I319V	probably benign	Het
B020004J07Rik	T	C	4: 101,836,961	S242G	probably benign	Het
Barhl1	C	T	2: 28,915,292	A130T	probably benign	Het
Bend4	T	C	5: 67,398,240	D541G	probably damaging	Het
Birc6	A	C	17: 74,692,295	T4673P	probably damaging	Het
Ccdc81	T	C	7: 89,890,471	R186G	probably damaging	Het
Cdyl2	A	G	8: 116,583,192	F342L	probably damaging	Het
Chd3	C	A	11: 69,357,541	V748L	probably damaging	Het
CN725425	G	T	15: 91,238,944	R72I	possibly damaging	Het
Col22a1	A	G	15: 71,962,671		probably null	Het
Cops3	A	G	11: 59,818,417		probably null	Het
Ctnnd1	G	T	2: 84,603,262	Q940K	possibly damaging	Het
Dtnb	C	T	12: 3,591,971	Q45*	probably null	Het
Efr3a	T	A	15: 65,842,704	I280K	probably damaging	Het
Eml6	A	C	11: 29,893,213	V167G	probably benign	Het
Fam83c	T	A	2: 155,830,295	M407L	probably benign	Het
Fasn	T	C	11: 120,811,068	T1862A	probably benign	Het
Fbxl6	A	G	15: 76,535,955	I486T	probably damaging	Het
Gpr182	A	G	10: 127,750,696	Y129H	probably damaging	Het
Gpr75	A	G	11: 30,892,456	S454G	probably damaging	Het
Hectd4	G	A	5: 121,364,590		probably null	Het
Hsf4	A	G	8: 105,275,590	T411A	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Il4	A	T	11: 53,618,605	M1K	probably null	Het
Ints11	G	T	4: 155,887,948	R463L	probably benign	Het
Ints4	G	A	7: 97,529,223	E677K	probably damaging	Het
Klk1b11	G	A	7: 43,997,792	C50Y	probably damaging	Het
Krt14	C	A	11: 100,207,395	G21C	unknown	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
L3mbtl2	C	T	15: 81,668,741	A125V	probably damaging	Het
Lama3	A	G	18: 12,500,512		probably null	Het
Lrrk2	T	C	15: 91,750,275	L1414P	probably damaging	Het
Matn2	T	C	15: 34,428,541	S684P	probably damaging	Het
Mga	T	A	2: 119,941,381	V1574D	probably damaging	Het
Mia2	T	C	12: 59,172,594		probably null	Het
Mrpl21	T	A	19: 3,292,459		probably benign	Het
Msh5	T	A	17: 35,041,482	Q266L	probably benign	Het
Mybpc1	C	A	10: 88,540,960	C758F	probably damaging	Het
Myo15	G	A	11: 60,509,596	A2932T	possibly damaging	Het
Nbas	T	A	12: 13,519,108	I2021K	probably benign	Het
Neurl4	T	C	11: 69,905,567	S424P	probably damaging	Het
Olfr16	T	A	1: 172,957,398	V201E	probably damaging	Het
Olfr322	A	C	11: 58,665,963	I135L	probably benign	Het
Olfr782	A	G	10: 129,351,234	M224V	probably benign	Het
Olfr829	T	C	9: 18,856,649	M8T	probably benign	Het
Olfr850	T	A	9: 19,478,092	I53F	possibly damaging	Het
Phlpp1	C	T	1: 106,350,578	R907W	probably damaging	Het
Pigg	T	C	5: 108,336,411	V508A	probably benign	Het
Pkhd1l1	T	G	15: 44,501,519	Y685D	probably damaging	Het
Polr3a	A	T	14: 24,484,466	I34N	probably damaging	Het
Prex1	A	G	2: 166,569,377	V1434A	probably benign	Het
Ptprh	T	A	7: 4,598,006	D124V	probably damaging	Het
Rad54b	T	A	4: 11,606,131	I513N	probably benign	Het
Rbm12b1	A	G	4: 12,145,507	N493S	probably benign	Het
Rfx7	A	T	9: 72,610,304		probably null	Het
Serpini1	A	G	3: 75,613,341	K82E	probably benign	Het
Slc27a6	T	G	18: 58,609,165		probably null	Het
Slc35f2	G	T	9: 53,816,917	L358F	probably damaging	Het
Slc45a1	A	C	4: 150,643,305	I158M	probably damaging	Het
Slurp2	G	A	15: 74,743,106	P62L	probably damaging	Het
Sspo	C	T	6: 48,466,740	H1949Y	probably damaging	Het
Tiam1	A	T	16: 89,837,827	V865E	possibly damaging	Het
Tlr4	A	C	4: 66,839,620	I217L	probably damaging	Het
Top1	C	T	2: 160,712,708	R460*	probably null	Het
Trpm3	T	A	19: 22,988,054	S1638T	probably benign	Het
Tubgcp5	C	T	7: 55,823,567	R798C	probably benign	Het
Vars	T	G	17: 35,012,727		probably null	Het
Xylt2	A	G	11: 94,666,333	Y111H	probably benign	Het
Zbed5	G	A	5: 129,901,726	G172D	probably damaging	Het
Zfp53	C	T	17: 21,508,833	T376I	probably benign	Het
Zfp937	G	T	2: 150,239,546	V499L	probably benign	Het
Zyx	T	A	6: 42,351,313	L152Q	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
R0196:Bag6	UTSW	17	35144263	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
X0025:Bag6	UTSW	17	35146077	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGCATGGCATAGTTTCAGAGGCAG -3'
(R):5'- AGTGCCAGGAGAGTCACCTCTAAAG -3'

Sequencing Primer
(F):5'- AGTTTCAGAGGCAGTCATCC -3'
(R):5'- GCTTTCCAGCCTCCCAGAAG -3'

Posted On

2013-05-23