Mutagenetix > Incidental Mutation

Incidental Mutation 'R7814:Bclaf1'

601372

Institutional Source

Beutler Lab

Gene Symbol

Bclaf1

Ensembl Gene

ENSMUSG00000037608

Gene Name

BCL2-associated transcription factor 1

Synonyms

5730534O06Rik, 2810454G14Rik, 2700025J07Rik, 2610102K23Rik

MMRRC Submission

045869-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7814 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20312469-20344613 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20334619 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 839 (T839A)

Ref Sequence

ENSEMBL: ENSMUSP00000043583 (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: T839A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000043583
Gene: ENSMUSG00000037608
AA Change: T839A

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

probably benign
Transcript: ENSMUST00000092678

SMART Domains

Protein: ENSMUSP00000090349
Gene: ENSMUSG00000037608

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: T837A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140623
Gene: ENSMUSG00000037608
AA Change: T837A

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

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

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (90/90)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110065P20Rik	C	T	4: 124,850,602	G20R	not run	Het
4931409K22Rik	G	T	5: 24,545,422	Q626K	possibly damaging	Het
Adamts13	A	T	2: 26,996,549	M927L	probably benign	Het
Akap6	T	A	12: 53,140,961	N1719K	probably benign	Het
Ank3	G	A	10: 69,986,904	V468M		Het
Aox1	A	G	1: 58,085,467	T956A	probably benign	Het
Ap4m1	T	C	5: 138,174,817	V140A	probably benign	Het
Apc	A	G	18: 34,272,539	T173A	probably damaging	Het
Btn2a2	T	A	13: 23,482,806	I210F	possibly damaging	Het
Cadps	A	G	14: 12,376,706	W1269R	probably damaging	Het
Capn2	G	C	1: 182,492,146	P159R	probably damaging	Het
Ccdc134	T	G	15: 82,131,523	V68G	probably damaging	Het
Cdh26	A	G	2: 178,470,035	T463A	probably damaging	Het
Cfap206	C	T	4: 34,716,347	V373I	probably benign	Het
Clpx	T	C	9: 65,324,301		probably null	Het
Ctnnd2	A	T	15: 31,020,728	Y1145F	probably benign	Het
Ctr9	T	A	7: 111,033,927	D127E	probably benign	Het
Cyp2f2	G	A	7: 27,129,253	V183I	probably benign	Het
Cyp7b1	G	A	3: 18,097,302	S249L	probably benign	Het
D630023F18Rik	T	A	1: 65,116,691	D125V	possibly damaging	Het
Dbh	A	T	2: 27,174,848	Y357F	probably damaging	Het
Dbp	T	A	7: 45,706,990	L175Q	probably benign	Het
Dmwd	A	T	7: 19,080,843	T473S	probably benign	Het
Dnah9	T	A	11: 66,005,660	Q2446L	probably damaging	Het
Dnmbp	T	C	19: 43,854,176	K498R	probably benign	Het
Dopey2	T	A	16: 93,799,971	I1924N	probably damaging	Het
Dsg1a	T	A	18: 20,338,515		probably null	Het
Dzank1	T	C	2: 144,522,564	T38A	probably damaging	Het
Egfem1	A	G	3: 29,686,791	H538R	probably damaging	Het
Entpd1	T	C	19: 40,727,447	C353R	probably damaging	Het
Ephx2	C	A	14: 66,110,229	C78F	probably benign	Het
Faf2	A	T	13: 54,660,961	H388L	probably benign	Het
Fam186a	G	A	15: 99,944,664	T1233I	possibly damaging	Het
Gfra2	C	A	14: 70,895,970	A80E	probably damaging	Het
Gif	C	A	19: 11,750,187	P125Q	probably benign	Het
Gm17175	T	A	14: 51,574,035		probably benign	Het
Gm8180	T	C	14: 43,783,646	D35G	possibly damaging	Het
Gm884	T	A	11: 103,614,173	H2323L	possibly damaging	Het
Gpr68	C	T	12: 100,879,043	V81M	probably damaging	Het
Hsd3b6	A	G	3: 98,810,943	L35P	probably damaging	Het
Hspd1	A	C	1: 55,078,644	V485G	possibly damaging	Het
Il16	A	G	7: 83,670,140	V381A	possibly damaging	Het
Il17rd	G	A	14: 27,100,117	C600Y	probably benign	Het
Ins2	C	A	7: 142,679,586		probably benign	Het
Itsn2	T	C	12: 4,658,561	I872T	probably benign	Het
Jakmip3	A	T	7: 139,019,129	D219V	probably damaging	Het
Jph4	T	C	14: 55,109,735	T452A	probably damaging	Het
Kazn	T	C	4: 142,210,170	E12G	unknown	Het
Kif20b	A	C	19: 34,950,955	S1206R	possibly damaging	Het
Lca5l	A	G	16: 96,162,557		probably null	Het
Lgals2	A	T	15: 78,851,333	S60R	probably benign	Het
Map10	A	G	8: 125,671,611	E581G	probably benign	Het
Map2k7	G	T	8: 4,243,744	R128L	probably benign	Het
Mapk8	G	C	14: 33,410,877	S34*	probably null	Het
Mcat	A	G	15: 83,547,909	Y253H	probably damaging	Het
Mmp2	T	C	8: 92,850,170	L607P	probably benign	Het
Ncor1	A	T	11: 62,333,926	V836E	probably damaging	Het
Neb	A	G	2: 52,137,380	S7113P	probably damaging	Het
Nphp4	T	C	4: 152,524,272	F446L	possibly damaging	Het
Nphp4	G	T	4: 152,544,403	D749Y	probably damaging	Het
Olfr115	T	A	17: 37,610,656	T32S	probably benign	Het
Olfr1185-ps1	A	G	2: 88,499,072		probably benign	Het
Olfr175-ps1	T	C	16: 58,824,002	K236E	probably damaging	Het
Olfr338	T	C	2: 36,376,809	I11T	possibly damaging	Het
Osbpl11	A	T	16: 33,210,061	R220*	probably null	Het
Plrg1	G	A	3: 83,056,837	V26M	probably damaging	Het
Polr1b	C	A	2: 129,125,544	F952L	probably damaging	Het
Ppfia3	A	C	7: 45,352,262	S560A	probably benign	Het
Ppp3cc	T	A	14: 70,225,015	N391I	possibly damaging	Het
Prdx6b	T	C	2: 80,292,960	S38P	possibly damaging	Het
Psg23	A	T	7: 18,606,914	*472R	probably null	Het
Rapgef4	A	T	2: 72,223,117	M587L	probably benign	Het
Rfx3	T	A	19: 27,826,070	M247L	probably benign	Het
Rgs7	T	A	1: 175,076,069	H463L	probably benign	Het
Riiad1	G	T	3: 94,465,855	S106R	probably benign	Het
Rims4	A	C	2: 163,918,628	I19S	probably benign	Het
Ros1	A	T	10: 52,096,137	M1648K	probably benign	Het
Rrn3	T	C	16: 13,811,589	F590L	probably benign	Het
Samd9l	T	A	6: 3,374,793	T823S	possibly damaging	Het
Sfxn1	C	A	13: 54,091,231	P115Q	possibly damaging	Het
Slc10a7	T	C	8: 78,698,573		probably null	Het
Slc25a16	A	T	10: 62,937,420	M142L	probably benign	Het
Stat2	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	10: 128,290,728		probably benign	Het
Stat5a	T	G	11: 100,875,027	L313R	probably damaging	Het
Strap	A	G	6: 137,741,978	E176G	possibly damaging	Het
Tlr4	T	G	4: 66,841,079	L703R	probably damaging	Het
Trim36	A	T	18: 46,167,624	V660D	possibly damaging	Het
Tspoap1	T	A	11: 87,775,524	D980E	probably damaging	Het
Usp28	T	C	9: 49,003,918	V157A	probably benign	Het
Vmn2r17	A	T	5: 109,427,873	R203S	probably benign	Het
Vmn2r66	T	C	7: 85,007,264	I181M	probably benign	Het
Zan	T	A	5: 137,463,579	T1113S	unknown	Het
Zfp442	C	T	2: 150,409,482	D167N	possibly 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
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
R7085:Bclaf1	UTSW	10	20322022	missense	unknown
R7768:Bclaf1	UTSW	10	20339771	missense	probably benign	0.18
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'- TGATCCATCCTCAGTGGCTG -3'
(R):5'- CAGAGGGACCCATAACTGAATTTAAAG -3'

Sequencing Primer
(F):5'- ATCCATCCTCAGTGGCTGTGAAG -3'
(R):5'- TGGTGACCATCTGTTCTG -3'

Posted On

2019-11-26