Mutagenetix > Incidental Mutation

Incidental Mutation 'R6147:Bclaf1'

488961

Institutional Source

Beutler Lab

Gene Symbol

Bclaf1

Ensembl Gene

ENSMUSG00000037608

Gene Name

BCL2-associated transcription factor 1

Synonyms

2700025J07Rik, 2610102K23Rik, 5730534O06Rik, 2810454G14Rik

MMRRC Submission

044294-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6147 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20187897-20218390 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20199171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 189 (D189E)

Ref Sequence

ENSEMBL: ENSMUSP00000090349 (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: D189E

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000043583
Gene: ENSMUSG00000037608
AA Change: D189E

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: D189E

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090349
Gene: ENSMUSG00000037608
AA Change: D189E

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: D187E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140623
Gene: ENSMUSG00000037608
AA Change: D187E

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

possibly damaging
Transcript: ENSMUST00000186100
AA Change: D189E

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140101
Gene: ENSMUSG00000037608
AA Change: D189E

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: ENSMUST00000187338

Predicted Effect

probably benign
Transcript: ENSMUST00000189158

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190156
AA Change: D187E

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140428
Gene: ENSMUSG00000037608
AA Change: D187E

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: ENSMUST00000215262

Predicted Effect

probably benign
Transcript: ENSMUST00000191438

SMART Domains

Protein: ENSMUSP00000140702
Gene: ENSMUSG00000037608

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

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 97.1%
20x: 92.3%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	C	T	1: 127,657,157 (GRCm39)		probably benign	Het
Acsf3	T	A	8: 123,508,213 (GRCm39)	D236E	probably damaging	Het
Aqp1	G	T	6: 55,313,595 (GRCm39)	E40D	probably benign	Het
Arfgef2	A	G	2: 166,713,415 (GRCm39)	D1272G	probably damaging	Het
Arfip1	A	G	3: 84,436,485 (GRCm39)	V97A	probably benign	Het
Atp6v1b2	T	A	8: 69,555,134 (GRCm39)	Y165*	probably null	Het
Camsap2	G	A	1: 136,273,138 (GRCm39)	T13M	probably damaging	Het
Cblif	G	A	19: 11,724,936 (GRCm39)		probably benign	Het
Cntn5	T	A	9: 10,012,894 (GRCm39)	Y297F	probably damaging	Het
Cntnap5b	G	A	1: 99,978,506 (GRCm39)	C174Y	probably damaging	Het
Cntrl	A	C	2: 35,055,745 (GRCm39)	D1213A	possibly damaging	Het
Comtd1	C	A	14: 21,898,883 (GRCm39)	A20S	probably damaging	Het
Cspg4	A	T	9: 56,796,056 (GRCm39)	R1264W	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dlgap2	T	A	8: 14,777,294 (GRCm39)	C180S	probably benign	Het
Ednra	C	T	8: 78,393,951 (GRCm39)		probably benign	Het
Efcab3	T	C	11: 104,858,566 (GRCm39)	V3875A	unknown	Het
Ephb6	A	T	6: 41,593,715 (GRCm39)	S533C	probably damaging	Het
Fndc1	A	T	17: 7,972,594 (GRCm39)		probably null	Het
Gm12185	A	G	11: 48,806,717 (GRCm39)	I158T	probably benign	Het
Gm14325	A	T	2: 177,474,600 (GRCm39)	C161S	probably damaging	Het
Ighv9-1	T	A	12: 114,057,840 (GRCm39)	Q20L	probably damaging	Het
Khnyn	G	C	14: 56,125,060 (GRCm39)	S438T	probably damaging	Het
Krt9	T	C	11: 100,079,665 (GRCm39)	S576G	unknown	Het
Lrriq4	A	T	3: 30,713,228 (GRCm39)	N443I	probably damaging	Het
Luzp1	A	G	4: 136,268,374 (GRCm39)	Y199C	probably damaging	Het
Map2k3	T	A	11: 60,840,776 (GRCm39)	Y268*	probably null	Het
Men1	T	A	19: 6,387,272 (GRCm39)	D248E	probably damaging	Het
Mfsd4b2	A	T	10: 39,797,573 (GRCm39)	C261S	probably benign	Het
Mpeg1	T	G	19: 12,440,258 (GRCm39)	I572S	probably damaging	Het
Mrgprb2	A	G	7: 48,202,113 (GRCm39)	V204A	possibly damaging	Het
Mycbp2	A	T	14: 103,392,945 (GRCm39)	C805*	probably null	Het
Nphs2	A	T	1: 156,146,296 (GRCm39)	K91*	probably null	Het
Obox3	A	G	7: 15,359,926 (GRCm39)	S248P	probably damaging	Het
Or12d17	T	C	17: 37,777,430 (GRCm39)	I111T	probably benign	Het
Or5w19	C	T	2: 87,699,061 (GRCm39)	T242I	probably benign	Het
Or8k22	A	T	2: 86,162,844 (GRCm39)	N285K	probably damaging	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Pan3	T	C	5: 147,485,093 (GRCm39)		probably benign	Het
Pate10	A	G	9: 35,653,528 (GRCm39)	T111A	possibly damaging	Het
Pate10	A	T	9: 35,653,406 (GRCm39)	Y70F	possibly damaging	Het
Pcdhb5	T	A	18: 37,453,779 (GRCm39)	L53Q	probably damaging	Het
Pcdhb9	G	T	18: 37,535,494 (GRCm39)	R496L	possibly damaging	Het
Peg10	C	T	6: 4,754,499 (GRCm39)		probably benign	Het
Plce1	A	G	19: 38,690,481 (GRCm39)	K722E	probably damaging	Het
Plch1	A	G	3: 63,630,302 (GRCm39)	S489P	probably damaging	Het
Plekhg3	T	C	12: 76,611,985 (GRCm39)	V362A	probably damaging	Het
Prorp	A	G	12: 55,426,093 (GRCm39)	Y168C	probably damaging	Het
Radil	G	A	5: 142,483,695 (GRCm39)	H264Y	probably benign	Het
Ranbp2	C	A	10: 58,315,250 (GRCm39)	T1990K	probably damaging	Het
Rnf207	T	C	4: 152,400,112 (GRCm39)	D192G	probably damaging	Het
Ryr1	A	T	7: 28,785,339 (GRCm39)	F1784Y	possibly damaging	Het
Set	T	A	2: 29,956,836 (GRCm39)	S2T	probably benign	Het
Slc26a2	T	A	18: 61,334,757 (GRCm39)	Y232F	probably damaging	Het
Sntb1	T	A	15: 55,511,406 (GRCm39)	M393L	probably benign	Het
Stx16	A	G	2: 173,932,480 (GRCm39)	T18A	probably damaging	Het
Stxbp5	A	T	10: 9,684,216 (GRCm39)	S585T	possibly damaging	Het
Sult2a7	T	C	7: 14,199,088 (GRCm39)	E313G	probably damaging	Het
Tbck	A	G	3: 132,400,207 (GRCm39)	K86R	probably benign	Het
Tom1	A	T	8: 75,781,320 (GRCm39)	Q255L	possibly damaging	Het
Trbv4	A	G	6: 41,036,637 (GRCm39)	Y54C	probably damaging	Het
Trim34a	A	T	7: 103,910,398 (GRCm39)	Q400L	probably damaging	Het
Trim42	G	T	9: 97,245,382 (GRCm39)	H473N	probably benign	Het
Tsbp1	T	C	17: 34,637,897 (GRCm39)	S31P	possibly damaging	Het
Tshr	T	A	12: 91,505,009 (GRCm39)	M649K	possibly damaging	Het
Vmn2r11	C	T	5: 109,202,700 (GRCm39)	V126M	probably benign	Het
Vps13b	T	A	15: 35,930,177 (GRCm39)	H3971Q	probably benign	Het
Wdr75	T	A	1: 45,858,698 (GRCm39)	N622K	probably benign	Het
Wdr93	A	T	7: 79,408,245 (GRCm39)	Q242L	probably benign	Het

Other mutations in Bclaf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Bclaf1	APN	10	20,201,745 (GRCm39)	missense	probably damaging	0.99
IGL01087:Bclaf1	APN	10	20,201,056 (GRCm39)	missense	probably damaging	0.99
IGL02001:Bclaf1	APN	10	20,198,762 (GRCm39)	unclassified	probably benign
IGL02380:Bclaf1	APN	10	20,201,113 (GRCm39)	missense	possibly damaging	0.93
IGL02618:Bclaf1	APN	10	20,199,274 (GRCm39)	missense	probably damaging	1.00
R0629:Bclaf1	UTSW	10	20,209,172 (GRCm39)	missense	probably damaging	1.00
R0884:Bclaf1	UTSW	10	20,197,822 (GRCm39)	nonsense	probably null
R1013:Bclaf1	UTSW	10	20,207,822 (GRCm39)	splice site	probably benign
R1611:Bclaf1	UTSW	10	20,198,998 (GRCm39)	unclassified	probably benign
R2228:Bclaf1	UTSW	10	20,215,624 (GRCm39)	utr 3 prime	probably benign
R3689:Bclaf1	UTSW	10	20,201,143 (GRCm39)	missense	possibly damaging	0.84
R3690:Bclaf1	UTSW	10	20,201,143 (GRCm39)	missense	possibly damaging	0.84
R4290:Bclaf1	UTSW	10	20,199,524 (GRCm39)	missense	probably damaging	1.00
R4292:Bclaf1	UTSW	10	20,199,524 (GRCm39)	missense	probably damaging	1.00
R4831:Bclaf1	UTSW	10	20,197,872 (GRCm39)	unclassified	probably benign
R5238:Bclaf1	UTSW	10	20,208,130 (GRCm39)	intron	probably benign
R5254:Bclaf1	UTSW	10	20,199,282 (GRCm39)	missense	possibly damaging	0.71
R5354:Bclaf1	UTSW	10	20,209,278 (GRCm39)	missense	probably damaging	1.00
R5386:Bclaf1	UTSW	10	20,201,338 (GRCm39)	missense	possibly damaging	0.95
R5712:Bclaf1	UTSW	10	20,209,277 (GRCm39)	missense	probably damaging	1.00
R5982:Bclaf1	UTSW	10	20,198,809 (GRCm39)	nonsense	probably null
R6218:Bclaf1	UTSW	10	20,210,374 (GRCm39)	missense	probably benign	0.27
R6284:Bclaf1	UTSW	10	20,197,906 (GRCm39)	splice site	probably null
R6738:Bclaf1	UTSW	10	20,199,515 (GRCm39)	missense	possibly damaging	0.91
R7085:Bclaf1	UTSW	10	20,197,768 (GRCm39)	missense	unknown
R7768:Bclaf1	UTSW	10	20,215,517 (GRCm39)	missense	probably benign	0.18
R7814:Bclaf1	UTSW	10	20,210,365 (GRCm39)	missense	possibly damaging	0.53
R8699:Bclaf1	UTSW	10	20,209,184 (GRCm39)	missense	possibly damaging	0.86
R9640:Bclaf1	UTSW	10	20,201,553 (GRCm39)	critical splice donor site	probably null
R9747:Bclaf1	UTSW	10	20,207,892 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- TGTCTTCTCAAAGATCCCGAAGC -3'
(R):5'- GCAGAGTGCACTGTACTAAGC -3'

Sequencing Primer
(F):5'- GCAGATCTCGCCGGTCATATAGATC -3'
(R):5'- CTGTACTAAGCATGGGGGCATC -3'

Posted On

2017-10-10