Mutagenetix > Incidental Mutation

Incidental Mutation 'R5354:Bclaf1'

423984

Institutional Source

Beutler Lab

Gene Symbol

Bclaf1

Ensembl Gene

ENSMUSG00000037608

Gene Name

BCL2-associated transcription factor 1

Synonyms

2700025J07Rik, 2610102K23Rik, 5730534O06Rik, 2810454G14Rik

MMRRC Submission

042933-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5354 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20187897-20218390 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20209278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 498 (Y498C)

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: Y785C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000043583
Gene: ENSMUSG00000037608
AA Change: Y785C

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: Y785C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000090349
Gene: ENSMUSG00000037608
AA Change: Y785C

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

probably damaging
Transcript: ENSMUST00000185800
AA Change: Y783C

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140623
Gene: ENSMUSG00000037608
AA Change: Y783C

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: Y498C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140702
Gene: ENSMUSG00000037608
AA Change: Y498C

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

0.5104

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (80/80)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	G	16: 14,436,535 (GRCm39)	K196R	probably benign	Het
Ablim1	T	C	19: 57,119,355 (GRCm39)	E243G	probably benign	Het
Acat1	T	A	9: 53,500,483 (GRCm39)	E271V	possibly damaging	Het
Aco1	T	C	4: 40,180,290 (GRCm39)		probably null	Het
Adam22	C	A	5: 8,140,182 (GRCm39)	G202W	probably damaging	Het
Agbl3	T	A	6: 34,791,687 (GRCm39)	H596Q	probably benign	Het
Anxa7	A	G	14: 20,514,977 (GRCm39)	L177P	possibly damaging	Het
Atp11a	A	T	8: 12,856,753 (GRCm39)	N48I	probably damaging	Het
Bcas1	T	A	2: 170,191,316 (GRCm39)	N492I	possibly damaging	Het
Bltp3a	G	A	17: 28,106,489 (GRCm39)	S1005N	probably benign	Het
Bod1l	A	C	5: 41,988,880 (GRCm39)	V409G	probably damaging	Het
Ccdc170	G	A	10: 4,484,188 (GRCm39)	C338Y	probably benign	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Ckap2	A	C	8: 22,667,581 (GRCm39)	N93K	probably damaging	Het
Clca3a1	A	T	3: 144,442,766 (GRCm39)	S759R	possibly damaging	Het
Coro1c	A	T	5: 113,984,226 (GRCm39)	I347N	possibly damaging	Het
Cpox	A	G	16: 58,491,205 (GRCm39)	T139A	probably damaging	Het
Cyp4a12b	C	A	4: 115,290,661 (GRCm39)		probably null	Het
Dctn1	T	G	6: 83,160,108 (GRCm39)	V116G	possibly damaging	Het
Dhx38	A	G	8: 110,282,378 (GRCm39)	V683A	probably damaging	Het
Dnah12	G	A	14: 26,496,299 (GRCm39)		probably null	Het
Dnajb7	T	C	15: 81,292,208 (GRCm39)	E43G	probably damaging	Het
Dsc1	A	T	18: 20,220,632 (GRCm39)	V714E	probably damaging	Het
Dusp29	G	A	14: 21,727,091 (GRCm39)	R186W	probably benign	Het
Egfem1	T	C	3: 29,136,361 (GRCm39)		probably null	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fmo1	T	C	1: 162,657,714 (GRCm39)	T476A	probably benign	Het
Gm10237	T	C	16: 35,741,099 (GRCm39)		noncoding transcript	Het
Gm14496	A	G	2: 181,642,602 (GRCm39)	S758G	probably damaging	Het
Gpat2	T	A	2: 127,270,643 (GRCm39)	L97Q	probably damaging	Het
Gpr162	T	C	6: 124,836,600 (GRCm39)	D357G	probably benign	Het
Hax1	A	T	3: 89,905,262 (GRCm39)	D34E	probably damaging	Het
Hmgcr	C	T	13: 96,791,404 (GRCm39)	V97M	probably benign	Het
Hsd3b2	T	C	3: 98,619,631 (GRCm39)	T105A	probably benign	Het
Ints1	A	G	5: 139,752,183 (GRCm39)		probably null	Het
Islr	T	C	9: 58,064,895 (GRCm39)	E204G	probably damaging	Het
Lrrc36	A	G	8: 106,151,996 (GRCm39)	N60D	probably damaging	Het
Maf1	T	C	15: 76,237,330 (GRCm39)		probably benign	Het
Mrgprb4	T	A	7: 47,848,077 (GRCm39)	R284W	probably benign	Het
Myh4	A	T	11: 67,146,551 (GRCm39)	N1508I	possibly damaging	Het
Nufip2	A	G	11: 77,577,103 (GRCm39)	H17R	unknown	Het
Oasl1	A	T	5: 115,075,055 (GRCm39)	I372L	probably damaging	Het
Or5ae1	T	A	7: 84,565,357 (GRCm39)	Y123*	probably null	Het
Or6p1	T	C	1: 174,258,252 (GRCm39)	L86P	probably damaging	Het
Pald1	A	T	10: 61,184,440 (GRCm39)	Y226N	probably damaging	Het
Pcdhb13	G	T	18: 37,577,844 (GRCm39)	G741C	probably damaging	Het
Pcdhga10	A	G	18: 37,881,259 (GRCm39)	D340G	probably damaging	Het
Pclo	C	A	5: 14,728,822 (GRCm39)		probably benign	Het
Pcsk4	G	T	10: 80,159,523 (GRCm39)	N416K	probably damaging	Het
Pde10a	C	A	17: 9,180,812 (GRCm39)	R398S	probably damaging	Het
Plin1	T	A	7: 79,375,469 (GRCm39)	T227S	possibly damaging	Het
Pnpt1	A	G	11: 29,104,166 (GRCm39)	D542G	probably damaging	Het
Ppp4r3b	T	A	11: 29,161,646 (GRCm39)	D673E	probably benign	Het
Prr18	C	A	17: 8,559,892 (GRCm39)	P16Q	probably damaging	Het
Psmc3	T	A	2: 90,889,698 (GRCm39)	Y440N	probably damaging	Het
Rassf5	T	C	1: 131,108,385 (GRCm39)	I232V	probably benign	Het
Rims1	T	A	1: 22,577,592 (GRCm39)	D218V	probably damaging	Het
Skint10	T	C	4: 112,568,790 (GRCm39)	N309S	possibly damaging	Het
Slc6a1	T	C	6: 114,279,584 (GRCm39)	M121T	possibly damaging	Het
Slit3	A	G	11: 35,566,740 (GRCm39)	D1004G	probably damaging	Het
Snap91	C	T	9: 86,717,177 (GRCm39)	V215I	possibly damaging	Het
Son	T	C	16: 91,452,627 (GRCm39)	L458S	probably damaging	Het
St18	C	T	1: 6,914,395 (GRCm39)	A782V	probably damaging	Het
Synpo	A	G	18: 60,735,303 (GRCm39)		probably null	Het
Thbs3	A	G	3: 89,128,684 (GRCm39)	D458G	probably damaging	Het
Tpr	C	T	1: 150,321,675 (GRCm39)	R3C	probably damaging	Het
Trp63	A	G	16: 25,503,105 (GRCm39)		probably null	Het
Vmn1r27	C	A	6: 58,192,581 (GRCm39)	R141L	probably benign	Het
Wnk1	T	C	6: 119,945,484 (GRCm39)	I699V	probably benign	Het
Xkr6	A	G	14: 64,056,353 (GRCm39)	D88G	possibly damaging	Het
Zan	A	G	5: 137,379,050 (GRCm39)		probably benign	Het
Zbtb7b	T	C	3: 89,286,913 (GRCm39)		probably benign	Het
Zfp618	A	T	4: 62,998,265 (GRCm39)	D33V	probably damaging	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
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
R9747:Bclaf1	UTSW	10	20,207,892 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- CCAGTTTCTAGCTGGTAGGCTG -3'
(R):5'- GGCTTCAAAGTCTCAAACTAAATGG -3'

Sequencing Primer
(F):5'- CAGACTGTGTCAGAGTTTATACCC -3'
(R):5'- CTGACTTGACTCTGGCTTT -3'

Posted On

2016-08-04