Mutagenetix > Incidental Mutations

Incidental Mutation 'R7085:Bclaf1'

549843

Institutional Source

Beutler Lab

Gene Symbol

Bclaf1

Ensembl Gene

ENSMUSG00000037608

Gene Name

BCL2-associated transcription factor 1

Synonyms

5730534O06Rik, 2810454G14Rik, 2700025J07Rik, 2610102K23Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7085 (G1)

Quality Score

188.009

Status

Validated

Chromosome

Chromosomal Location

20312469-20344613 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20322022 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 4 (S4P)

Ref Sequence

ENSEMBL: ENSMUSP00000043583 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000043881
AA Change: S4P

SMART Domains

Protein: ENSMUSP00000043583
Gene: ENSMUSG00000037608
AA Change: S4P

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

unknown
Transcript: ENSMUST00000092678
AA Change: S4P

SMART Domains

Protein: ENSMUSP00000090349
Gene: ENSMUSG00000037608
AA Change: S4P

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

unknown
Transcript: ENSMUST00000185800
AA Change: S4P

SMART Domains

Protein: ENSMUSP00000140623
Gene: ENSMUSG00000037608
AA Change: S4P

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

unknown
Transcript: ENSMUST00000186100
AA Change: S4P

SMART Domains

Protein: ENSMUSP00000140101
Gene: ENSMUSG00000037608
AA Change: S4P

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

probably benign
Transcript: ENSMUST00000189158

Predicted Effect

unknown
Transcript: ENSMUST00000190156
AA Change: S4P

SMART Domains

Protein: ENSMUSP00000140428
Gene: ENSMUSG00000037608
AA Change: S4P

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

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

Meta Mutation Damage Score

0.1410

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

95% (75/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	G	1: 26,683,465	L878P	possibly damaging	Het
9330159F19Rik	T	C	10: 29,224,480	L283P	probably damaging	Het
Abhd18	T	C	3: 40,916,909	M132T	possibly damaging	Het
Afap1l1	A	G	18: 61,748,814	V270A	possibly damaging	Het
Ankrd34a	A	T	3: 96,598,629	Q383L	probably benign	Het
Atp8b5	A	G	4: 43,361,835	D627G	probably damaging	Het
Atrnl1	T	A	19: 57,691,857	C730S	probably damaging	Het
Blzf1	T	C	1: 164,302,324	D153G	probably damaging	Het
Btaf1	T	C	19: 36,972,918	V516A	probably benign	Het
C1qa	T	C	4: 136,897,780	T20A	probably benign	Het
Cacna1e	A	T	1: 154,473,746		probably null	Het
Cfd	T	G	10: 79,892,492	V229G	probably damaging	Het
Chd3	T	A	11: 69,369,201	H64L	unknown	Het
Cntn3	A	G	6: 102,165,401	S1002P	possibly damaging	Het
Cntrl	T	A	2: 35,165,792	C1786S	probably benign	Het
Cpa1	A	G	6: 30,643,620	D355G	probably benign	Het
D130043K22Rik	T	C	13: 24,872,302	V539A	possibly damaging	Het
Ddx1	A	C	12: 13,229,355	W428G	probably damaging	Het
Ddx49	G	A	8: 70,302,483		probably benign	Het
Dnhd1	T	A	7: 105,715,261	V4207E	probably benign	Het
Dock3	A	G	9: 106,901,887	S288P	probably damaging	Het
Drap1	G	A	19: 5,424,787		probably benign	Het
Ecm2	G	A	13: 49,520,902	R266K	probably damaging	Het
Emilin2	A	G	17: 71,274,105	L542S	probably damaging	Het
Evx1	T	C	6: 52,316,692	Y282H	possibly damaging	Het
Fam159b	G	T	13: 104,858,306	T111K	probably benign	Het
Fbxo44	T	A	4: 148,158,743	H20L	probably damaging	Het
Flot2	G	T	11: 78,058,074	A292S	possibly damaging	Het
Fry	A	G	5: 150,438,749	I2161V	probably benign	Het
Gli3	T	C	13: 15,715,062	F587S	probably damaging	Het
Gm10697	T	A	3: 94,072,632	M5L	probably benign	Het
Gm4450	T	C	3: 98,450,394	N101D	probably damaging	Het
Gm49368	A	G	7: 128,126,857	D1147G	unknown	Het
Gm6970	A	G	19: 47,170,662	V158A	unknown	Het
Gprc5b	A	T	7: 118,983,632	M338K	probably damaging	Het
Hacd3	A	C	9: 64,998,243	N204K	probably damaging	Het
Hydin	A	G	8: 110,603,330	T4899A	probably benign	Het
Ido2	T	A	8: 24,558,196	R49S	probably benign	Het
Igsf3	C	A	3: 101,455,489	T942K	probably benign	Het
Kank4	T	A	4: 98,779,946	Q88L	probably benign	Het
Krtap16-1	T	A	11: 99,986,285	I98F	possibly damaging	Het
Laptm4a	T	C	12: 8,922,113	V52A	probably benign	Het
Lmbr1	A	T	5: 29,361,092		probably null	Het
Lnx1	G	A	5: 74,628,185	S31F	possibly damaging	Het
Mafa	G	T	15: 75,747,687	A79E	unknown	Het
Me2	A	T	18: 73,781,058	N467K	probably damaging	Het
Med23	T	A	10: 24,870,121	L8Q	probably damaging	Het
Muc16	T	A	9: 18,644,849	I3383F	unknown	Het
Nbas	G	T	12: 13,285,258	S151I	probably damaging	Het
Olfr1130	T	A	2: 87,607,406	I6N	probably benign	Het
Olfr231	T	A	1: 174,117,660	I119F	probably damaging	Het
Olfr272	C	T	4: 52,910,961	A278T	probably benign	Het
Olfr867	G	A	9: 20,054,936	H58Y	probably benign	Het
Olfr976	C	A	9: 39,956,512	C141F	probably damaging	Het
Piezo1	A	G	8: 122,490,894	V1305A		Het
Plcb3	T	C	19: 6,960,133	E639G	possibly damaging	Het
Polr2a	A	G	11: 69,743,880	L658P	probably damaging	Het
Prag1	A	T	8: 36,104,237	Q658L	possibly damaging	Het
Prex2	A	T	1: 11,098,588	R269S	possibly damaging	Het
Reln	C	A	5: 21,915,087	G2856*	probably null	Het
Rsph10b	A	T	5: 143,949,284	T267S	possibly damaging	Het
Rtn4rl1	A	G	11: 75,265,224	I161V	probably benign	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Sbno1	G	A	5: 124,381,720	P1165L	possibly damaging	Het
Scn3b	T	C	9: 40,277,098	V29A	probably damaging	Het
Sh3d21	T	A	4: 126,163,091	T13S	probably benign	Het
Slc22a22	G	A	15: 57,249,649	T398I	probably benign	Het
Slc40a1	T	A	1: 45,911,528	T255S	probably benign	Het
Smchd1	A	T	17: 71,365,219		probably null	Het
Soat1	A	T	1: 156,432,331	V480D	probably damaging	Het
Supt5	T	A	7: 28,331,489	E39V	unknown	Het
Tapbpl	T	C	6: 125,226,488		probably null	Het
Tlr11	A	T	14: 50,362,656	I700F	probably damaging	Het
Tmc3	A	T	7: 83,622,145	K864M	possibly damaging	Het
Tns1	G	A	1: 73,925,462	P81S	probably benign	Het
Tspan2	C	A	3: 102,760,954	L168I	probably benign	Het
Unc13d	C	A	11: 116,064,807	S885I	probably benign	Het
Unc45a	A	T	7: 80,326,334	M799K	possibly damaging	Het
Usp34	A	G	11: 23,363,097	D547G		Het
Vps33b	A	G	7: 80,276,089	I95V	probably benign	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
R0629:Bclaf1	UTSW	10	20333426	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
R7768:Bclaf1	UTSW	10	20339771	missense	probably benign	0.18
R7814:Bclaf1	UTSW	10	20334619	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- ACATTGCTCCGAAGTTGGTTG -3'
(R):5'- CACTGTATCTGTACACAGCAGAC -3'

Sequencing Primer
(F):5'- TTGAGGTGCATAGGAGATAAGTTC -3'
(R):5'- TGTATCTGTACACAGCAGACCTAATC -3'

Posted On

2019-05-15