Mutagenetix > Incidental Mutation

Incidental Mutation 'R9747:Bclaf1'

732230

Institutional Source

Beutler Lab

Gene Symbol

Bclaf1

Ensembl Gene

ENSMUSG00000037608

Gene Name

BCL2-associated transcription factor 1

Synonyms

2700025J07Rik, 2610102K23Rik, 5730534O06Rik, 2810454G14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9747 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20187897-20218390 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20207892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 700 (K700E)

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: K700E

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000043583
Gene: ENSMUSG00000037608
AA Change: K700E

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: K700E

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000090349
Gene: ENSMUSG00000037608
AA Change: K700E

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: K698E

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

SMART Domains

Protein: ENSMUSP00000140623
Gene: ENSMUSG00000037608
AA Change: K698E

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: K700E

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140101
Gene: ENSMUSG00000037608
AA Change: K700E

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

possibly damaging
Transcript: ENSMUST00000190156
AA Change: K698E

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140428
Gene: ENSMUSG00000037608
AA Change: K698E

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

possibly damaging
Transcript: ENSMUST00000191438
AA Change: K413E

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140702
Gene: ENSMUSG00000037608
AA Change: K413E

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.6%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,668,711 (GRCm39)	S701P	probably damaging	Het
Acsl1	A	G	8: 46,961,397 (GRCm39)	K114R	probably benign	Het
Adam11	A	G	11: 102,663,495 (GRCm39)	N275D	probably damaging	Het
Adamts19	G	A	18: 59,023,487 (GRCm39)	R294H	possibly damaging	Het
Adamts20	C	T	15: 94,180,943 (GRCm39)	C1666Y	probably damaging	Het
Ahnak	A	T	19: 8,987,541 (GRCm39)	I2942L	possibly damaging	Het
Ank1	A	G	8: 23,576,993 (GRCm39)	H195R	probably damaging	Het
Ank2	T	C	3: 126,752,667 (GRCm39)	T350A	probably damaging	Het
Asb3	T	A	11: 31,008,946 (GRCm39)	N243K	possibly damaging	Het
Atp10b	C	T	11: 43,088,339 (GRCm39)	T315I	probably benign	Het
Avl9	C	T	6: 56,730,825 (GRCm39)	S583F	probably damaging	Het
Brd10	C	A	19: 29,731,911 (GRCm39)	C367F	possibly damaging	Het
Cacna1i	G	A	15: 80,246,318 (GRCm39)	E571K	probably benign	Het
Casp1	T	A	9: 5,299,322 (GRCm39)	V17E	probably damaging	Het
Ccdc115	A	T	1: 34,478,001 (GRCm39)	D76E	probably benign	Het
Ccdc150	A	T	1: 54,299,107 (GRCm39)	R28*	probably null	Het
Cd36	T	G	5: 18,019,732 (GRCm39)	E123A	probably benign	Het
Cd5l	A	C	3: 87,275,104 (GRCm39)	Q214H	probably benign	Het
Cfap46	T	A	7: 139,191,907 (GRCm39)	H2370L	unknown	Het
Cftr	C	A	6: 18,285,636 (GRCm39)	T1148K	possibly damaging	Het
Col15a1	T	A	4: 47,312,208 (GRCm39)	L1341Q	probably damaging	Het
Col6a6	T	C	9: 105,661,239 (GRCm39)	E290G	probably benign	Het
D6Wsu163e	A	G	6: 126,938,977 (GRCm39)	E404G	probably benign	Het
Dchs1	A	T	7: 105,412,682 (GRCm39)	D1239E	probably damaging	Het
Dennd4b	C	T	3: 90,177,828 (GRCm39)	T430I	possibly damaging	Het
Dmgdh	C	T	13: 93,825,154 (GRCm39)	P159L	probably damaging	Het
Dmrt3	G	A	19: 25,600,003 (GRCm39)	D283N	probably damaging	Het
Dnttip1	A	G	2: 164,607,100 (GRCm39)	D247G	probably damaging	Het
Efhc1	A	T	1: 21,048,928 (GRCm39)	D447V	probably damaging	Het
Ehhadh	T	C	16: 21,585,138 (GRCm39)	K248E	probably benign	Het
Eif4enif1	T	C	11: 3,163,267 (GRCm39)	L34P	probably damaging	Het
Fer	T	C	17: 64,214,376 (GRCm39)	M103T	probably benign	Het
Gabrg1	T	C	5: 70,938,029 (GRCm39)	M197V	probably damaging	Het
Galnt5	C	A	2: 57,889,477 (GRCm39)	T359K	probably benign	Het
Gm8108	G	T	14: 4,110,527 (GRCm38)		probably benign	Het
Gna12	T	C	5: 140,746,602 (GRCm39)	N281S	probably damaging	Het
Golgb1	C	T	16: 36,713,769 (GRCm39)	T250I	probably damaging	Het
Gpd1	A	G	15: 99,618,004 (GRCm39)	K130E	probably benign	Het
Gys2	A	T	6: 142,395,181 (GRCm39)	M428K	possibly damaging	Het
Hey2	A	C	10: 30,709,824 (GRCm39)	S310A	probably benign	Het
Ifi47	T	C	11: 48,987,367 (GRCm39)	V378A	possibly damaging	Het
Ighv8-12	A	G	12: 115,611,640 (GRCm39)	S95P	probably damaging	Het
Igkv1-131	G	T	6: 67,743,215 (GRCm39)	T56K	probably damaging	Het
Igsf23	T	C	7: 19,675,839 (GRCm39)	N127S	probably benign	Het
Iqgap2	T	A	13: 95,821,505 (GRCm39)	N546I	probably damaging	Het
Irf9	A	G	14: 55,844,045 (GRCm39)	H270R	probably benign	Het
Itga6	C	T	2: 71,656,871 (GRCm39)	S375L	probably damaging	Het
Jak1	T	C	4: 101,016,087 (GRCm39)	E857G	probably benign	Het
Kbtbd8	A	G	6: 95,098,838 (GRCm39)	T116A	possibly damaging	Het
Kif5a	T	C	10: 127,074,622 (GRCm39)	I570V	probably benign	Het
Klhdc10	T	C	6: 30,439,859 (GRCm39)	M154T	possibly damaging	Het
Krtap6-2	A	G	16: 89,216,776 (GRCm39)	Y64H	unknown	Het
Lce1l	C	T	3: 92,757,828 (GRCm39)	C10Y	unknown	Het
Lrrc72	A	G	12: 36,264,371 (GRCm39)	Y29H	probably damaging	Het
Ltbp2	A	T	12: 84,915,515 (GRCm39)	N181K	probably damaging	Het
Ly75	A	G	2: 60,136,672 (GRCm39)		probably null	Het
Mpped1	A	G	15: 83,684,305 (GRCm39)	Y109C	probably damaging	Het
Mrgpra2a	C	T	7: 47,076,458 (GRCm39)	V267I	probably benign	Het
Muc4	T	A	16: 32,754,698 (GRCm38)	V1524E	probably benign	Het
Nabp2	T	A	10: 128,237,610 (GRCm39)	R208*	probably null	Het
Ndst3	A	G	3: 123,340,461 (GRCm39)	F786L	possibly damaging	Het
Nos2	C	T	11: 78,822,472 (GRCm39)	P123S	probably damaging	Het
Nrcam	T	A	12: 44,645,192 (GRCm39)	V1198E	probably damaging	Het
Oacyl	A	G	18: 65,880,962 (GRCm39)	Q592R	possibly damaging	Het
Or10ak9	C	T	4: 118,726,217 (GRCm39)	P80S	probably damaging	Het
Or5as1	T	A	2: 86,980,898 (GRCm39)	T36S	probably benign	Het
Pcdhgc4	A	G	18: 37,951,026 (GRCm39)	Y814C	probably benign	Het
Pcm1	A	C	8: 41,757,135 (GRCm39)	H1349P	probably benign	Het
Pcsk6	T	A	7: 65,633,470 (GRCm39)	D567E	probably damaging	Het
Pdgfd	T	C	9: 6,337,310 (GRCm39)	V214A	probably benign	Het
Plekhg3	A	T	12: 76,611,367 (GRCm39)	N270I	probably damaging	Het
Rasgrf1	T	A	9: 89,877,047 (GRCm39)	V804E	probably benign	Het
Rbl1	G	T	2: 157,033,966 (GRCm39)	L371I	probably damaging	Het
Rcl1	T	A	19: 29,105,482 (GRCm39)	I223N	probably damaging	Het
Saa4	C	T	7: 46,381,077 (GRCm39)	G15E	probably damaging	Het
Selenbp1	T	C	3: 94,844,648 (GRCm39)	S102P	probably damaging	Het
Setx	G	T	2: 29,064,377 (GRCm39)	E232*	probably null	Het
Sik2	A	G	9: 50,810,058 (GRCm39)	F502L	possibly damaging	Het
Slamf9	A	T	1: 172,305,782 (GRCm39)	I272F	unknown	Het
Slc33a1	A	T	3: 63,861,424 (GRCm39)	D259E	probably benign	Het
Slc41a3	A	G	6: 90,621,138 (GRCm39)	I393V	probably benign	Het
Slk	A	G	19: 47,608,346 (GRCm39)	D433G	possibly damaging	Het
Spata13	C	T	14: 60,929,240 (GRCm39)	P266L	probably benign	Het
Speer4c1	T	A	5: 15,916,652 (GRCm39)	Q105L	probably benign	Het
Srgap1	T	A	10: 121,761,771 (GRCm39)	I126F	probably damaging	Het
Srgap1	A	G	10: 121,628,579 (GRCm39)	S818P	probably benign	Het
Tbpl2	A	T	2: 23,981,104 (GRCm39)	C232*	probably null	Het
Tctn3	T	G	19: 40,599,743 (GRCm39)	N153T	possibly damaging	Het
Tdrd1	T	A	19: 56,847,101 (GRCm39)	V914E	probably benign	Het
Tmem200b	A	G	4: 131,649,359 (GRCm39)	H93R	possibly damaging	Het
Tmem33	T	G	5: 67,425,922 (GRCm39)	N155K	possibly damaging	Het
Tmprss15	T	C	16: 78,884,400 (GRCm39)	D94G	probably benign	Het
Tnpo2	A	G	8: 85,781,988 (GRCm39)	D869G	probably benign	Het
Traf6	C	T	2: 101,527,029 (GRCm39)	R260*	probably null	Het
Ttn	C	T	2: 76,594,293 (GRCm39)	V20552I	possibly damaging	Het
Vmn2r102	T	A	17: 19,898,129 (GRCm39)	D381E	probably benign	Het
Vmn2r92	T	C	17: 18,405,201 (GRCm39)	F782L	possibly damaging	Het
Zfc3h1	G	A	10: 115,244,821 (GRCm39)	D765N	possibly damaging	Het
Zfp472	T	A	17: 33,196,271 (GRCm39)	H115Q	possibly damaging	Het
Zmynd11	T	A	13: 9,739,244 (GRCm39)	N514I	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
R6147:Bclaf1	UTSW	10	20,199,171 (GRCm39)	missense	possibly damaging	0.93
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

Predicted Primers

PCR Primer
(F):5'- GACAGATGTATCACTTTGCTGAATG -3'
(R):5'- CTCATCCACCATAAGCCGTG -3'

Sequencing Primer
(F):5'- GATGTATCACTTTGCTGAATGAAAGC -3'
(R):5'- TCCACCATAAGCCGTGTAAAAG -3'

Posted On

2022-11-14