Mutagenetix > Incidental Mutation

Incidental Mutation 'R0629:Bclaf1'

57767

Institutional Source

Beutler Lab

Gene Symbol

Bclaf1

Ensembl Gene

ENSMUSG00000037608

Gene Name

BCL2-associated transcription factor 1

Synonyms

5730534O06Rik, 2810454G14Rik, 2700025J07Rik, 2610102K23Rik

MMRRC Submission

038818-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0629 (G1)

Quality Score

150

Status

Validated

Chromosome

Chromosomal Location

20312469-20344613 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20333426 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 463 (S463P)

Ref Sequence

ENSEMBL: ENSMUSP00000140702 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043881] [ENSMUST00000092678] [ENSMUST00000185800] [ENSMUST00000186100] [ENSMUST00000189158] [ENSMUST00000190156] [ENSMUST00000191438]

AlphaFold

Q8K019

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043881
AA Change: S750P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000043583
Gene: ENSMUSG00000037608
AA Change: S750P

Domain	Start	End	E-Value	Type
low complexity region	3	94	N/A	INTRINSIC
Pfam:THRAP3_BCLAF1	108	766	1.6e-181	PFAM
low complexity region	793	824	N/A	INTRINSIC
low complexity region	861	874	N/A	INTRINSIC
low complexity region	898	919	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092678
AA Change: S750P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000090349
Gene: ENSMUSG00000037608
AA Change: S750P

Domain	Start	End	E-Value	Type
low complexity region	3	94	N/A	INTRINSIC
Pfam:THRAP3_BCLAF1	108	789	5.4e-191	PFAM
low complexity region	812	825	N/A	INTRINSIC
low complexity region	849	870	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185800
AA Change: S748P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140623
Gene: ENSMUSG00000037608
AA Change: S748P

Domain	Start	End	E-Value	Type
low complexity region	3	92	N/A	INTRINSIC
Pfam:THRAP3_BCLAF1	106	787	7.2e-191	PFAM
low complexity region	791	822	N/A	INTRINSIC
low complexity region	859	872	N/A	INTRINSIC
low complexity region	896	917	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186100

SMART Domains

Protein: ENSMUSP00000140101
Gene: ENSMUSG00000037608

Domain	Start	End	E-Value	Type
low complexity region	3	94	N/A	INTRINSIC
Pfam:THRAP3_BCLAF1	108	742	6.4e-177	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188546

Predicted Effect

probably benign
Transcript: ENSMUST00000189158

Predicted Effect

probably benign
Transcript: ENSMUST00000190156

SMART Domains

Protein: ENSMUSP00000140428
Gene: ENSMUSG00000037608

Domain	Start	End	E-Value	Type
low complexity region	3	92	N/A	INTRINSIC
Pfam:THRAP3_BCLAF1	106	740	4.2e-180	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191143

Predicted Effect

probably damaging
Transcript: ENSMUST00000191438
AA Change: S463P

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

SMART Domains

Protein: ENSMUSP00000140702
Gene: ENSMUSG00000037608
AA Change: S463P

Domain	Start	End	E-Value	Type
Pfam:THRAP3_BCLAF1	1	502	1.3e-140	PFAM
low complexity region	525	538	N/A	INTRINSIC
low complexity region	562	583	N/A	INTRINSIC

Meta Mutation Damage Score

0.4021

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional repressor that interacts with several members of the BCL2 family of proteins. Overexpression of this protein induces apoptosis, which can be suppressed by co-expression of BCL2 proteins. The protein localizes to dot-like structures throughout the nucleus, and redistributes to a zone near the nuclear envelope in cells undergoing apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality, impaired lung development, and T cell and B cell homeostasis abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	T	17: 45,507,547	D86V	probably damaging	Het
Adamts14	G	A	10: 61,211,624	Q733*	probably null	Het
Adcy10	A	G	1: 165,543,105	D651G	probably damaging	Het
Apcdd1	T	A	18: 62,933,970	C52S	probably damaging	Het
Cabcoco1	T	C	10: 68,516,278	Y68C	probably damaging	Het
Cacna1f	G	A	X: 7,620,434	S888N	probably damaging	Het
Cacna1g	A	G	11: 94,409,543	C2134R	possibly damaging	Het
Cdc37	A	C	9: 21,140,768	M325R	possibly damaging	Het
Clca2	T	A	3: 145,072,239	M762L	probably benign	Het
Cntn3	C	T	6: 102,203,976	V753M	probably damaging	Het
Col6a6	A	T	9: 105,727,165		probably benign	Het
Dscaml1	A	G	9: 45,721,418	D1194G	probably damaging	Het
Egfr	G	A	11: 16,869,333	G288S	probably damaging	Het
Fbxl17	G	T	17: 63,471,414	N19K	probably damaging	Het
Fmo3	A	G	1: 162,958,227		probably benign	Het
Frmd6	T	C	12: 70,883,762	Y219H	probably damaging	Het
Fuca1	T	C	4: 135,925,644	V193A	possibly damaging	Het
Gm1141	G	C	X: 71,938,773	R296P	possibly damaging	Het
Gm7461	C	T	8: 4,677,769		noncoding transcript	Het
Gpc5	T	A	14: 115,552,239	N508K	possibly damaging	Het
Iqch	A	T	9: 63,425,382	D1019E	probably benign	Het
Isyna1	A	G	8: 70,594,708	Y27C	probably damaging	Het
Itgb8	T	G	12: 119,202,481	H105P	probably benign	Het
Kbtbd11	C	T	8: 15,027,572	P57L	probably benign	Het
Kcns3	A	C	12: 11,092,558	C47G	probably damaging	Het
Kif21b	A	T	1: 136,172,157		probably null	Het
Lama3	A	T	18: 12,419,245	H418L	possibly damaging	Het
Lrit3	A	G	3: 129,788,302	Y679H	probably damaging	Het
Lrrc19	T	A	4: 94,638,252	D356V	probably damaging	Het
Morc2b	A	G	17: 33,135,807	M997T	probably benign	Het
Mroh9	T	C	1: 163,060,636	H290R	possibly damaging	Het
Mtcl1	A	T	17: 66,338,142	S1886T	possibly damaging	Het
Muc20	T	C	16: 32,793,421	T529A	possibly damaging	Het
Myo7a	A	C	7: 98,085,466	L607R	probably damaging	Het
Myom2	T	A	8: 15,069,783	F180I	probably damaging	Het
Myt1l	G	A	12: 29,811,485	E89K	unknown	Het
Nek2	A	G	1: 191,831,317	N431S	probably benign	Het
Olfr1086	T	A	2: 86,676,529	H268L	possibly damaging	Het
Olfr169	A	T	16: 19,565,980	V301E	possibly damaging	Het
Oprm1	A	T	10: 6,832,604		probably null	Het
Oxsr1	A	G	9: 119,241,784		probably benign	Het
Pdgfrb	G	A	18: 61,078,648		probably null	Het
Proser1	C	A	3: 53,479,064	P789Q	probably benign	Het
Ptgs2	A	G	1: 150,101,037	Q7R	probably benign	Het
Rab3d	A	G	9: 21,914,686	V144A	probably benign	Het
Ralgapb	T	A	2: 158,439,547	L167H	probably damaging	Het
Ranbp3	A	G	17: 56,708,200	T301A	possibly damaging	Het
Rasgrf1	G	A	9: 89,984,269	V587M	probably damaging	Het
Sec16b	A	G	1: 157,564,863		probably benign	Het
Sin3b	T	C	8: 72,753,536		probably benign	Het
Slc10a2	T	C	8: 5,098,562	S128G	probably benign	Het
Tbl1xr1	G	A	3: 22,210,401	V507I	probably benign	Het
Tmem8b	T	G	4: 43,669,896		probably null	Het
Trak1	A	T	9: 121,367,167	T22S	probably benign	Het
Trim30d	A	G	7: 104,487,655	I114T	probably damaging	Het
Ttc13	A	T	8: 124,674,366	S624T	probably damaging	Het
Ttn	T	C	2: 76,828,130		probably benign	Het
Vipr1	T	A	9: 121,660,171	Y99*	probably null	Het
Vmn1r210	T	C	13: 22,827,874	K81E	probably damaging	Het
Wwc1	T	C	11: 35,853,472	Y841C	probably benign	Het
Xrcc4	A	G	13: 90,000,905		probably benign	Het
Zdhhc22	A	T	12: 86,988,297	I127N	probably damaging	Het
Zdhhc7	A	G	8: 120,088,046	L8P	possibly damaging	Het
Zfp664	C	A	5: 124,885,595	L18I	probably damaging	Het

Other mutations in Bclaf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Bclaf1	APN	10	20325999	missense	probably damaging	0.99
IGL01087:Bclaf1	APN	10	20325310	missense	probably damaging	0.99
IGL02001:Bclaf1	APN	10	20323016	unclassified	probably benign
IGL02380:Bclaf1	APN	10	20325367	missense	possibly damaging	0.93
IGL02618:Bclaf1	APN	10	20323528	missense	probably damaging	1.00
R0884:Bclaf1	UTSW	10	20322076	nonsense	probably null
R1013:Bclaf1	UTSW	10	20332076	splice site	probably benign
R1611:Bclaf1	UTSW	10	20323252	unclassified	probably benign
R2228:Bclaf1	UTSW	10	20339878	utr 3 prime	probably benign
R3689:Bclaf1	UTSW	10	20325397	missense	possibly damaging	0.84
R3690:Bclaf1	UTSW	10	20325397	missense	possibly damaging	0.84
R4290:Bclaf1	UTSW	10	20323778	missense	probably damaging	1.00
R4292:Bclaf1	UTSW	10	20323778	missense	probably damaging	1.00
R4831:Bclaf1	UTSW	10	20322126	unclassified	probably benign
R5238:Bclaf1	UTSW	10	20332384	intron	probably benign
R5254:Bclaf1	UTSW	10	20323536	missense	possibly damaging	0.71
R5354:Bclaf1	UTSW	10	20333532	missense	probably damaging	1.00
R5386:Bclaf1	UTSW	10	20325592	missense	possibly damaging	0.95
R5712:Bclaf1	UTSW	10	20333531	missense	probably damaging	1.00
R5982:Bclaf1	UTSW	10	20323063	nonsense	probably null
R6147:Bclaf1	UTSW	10	20323425	missense	possibly damaging	0.93
R6218:Bclaf1	UTSW	10	20334628	missense	probably benign	0.27
R6284:Bclaf1	UTSW	10	20322160	splice site	probably null
R6738:Bclaf1	UTSW	10	20323769	missense	possibly damaging	0.91
R7085:Bclaf1	UTSW	10	20322022	missense	unknown
R7768:Bclaf1	UTSW	10	20339771	missense	probably benign	0.18
R7814:Bclaf1	UTSW	10	20334619	missense	possibly damaging	0.53
R8699:Bclaf1	UTSW	10	20333438	missense	possibly damaging	0.86
R9640:Bclaf1	UTSW	10	20325807	critical splice donor site	probably null
R9747:Bclaf1	UTSW	10	20332146	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- GTGGCCTAAACCACAGACTGTTCTC -3'
(R):5'- GCACAGTTCTCCAAGACAAAGGCTC -3'

Sequencing Primer
(F):5'- gttcagtccccagcacc -3'
(R):5'- GGCTCCCAAATGATCAAAGAG -3'

Posted On

2013-07-11