Mutagenetix > Incidental Mutations

Incidental Mutation 'R0090:Aff4'

20160

Institutional Source

Beutler Lab

Gene Symbol

Aff4

Ensembl Gene

ENSMUSG00000049470

Gene Name

AF4/FMR2 family, member 4

Synonyms

Laf4l, Alf4

MMRRC Submission

038377-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0090 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

53350833-53421830 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53392782 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 362 (T362A)

Ref Sequence

ENSEMBL: ENSMUSP00000051479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060945]

AlphaFold

Q9ESC8

Predicted Effect

probably benign
Transcript: ENSMUST00000060945
AA Change: T362A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000051479
Gene: ENSMUSG00000049470
AA Change: T362A

Domain	Start	End	E-Value	Type
Pfam:AF-4	2	1156	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082785

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130152

Predicted Effect

unknown
Transcript: ENSMUST00000152616
AA Change: T62A

SMART Domains

Protein: ENSMUSP00000118866
Gene: ENSMUSG00000049470
AA Change: T62A

Domain	Start	End	E-Value	Type
Pfam:AF-4	1	51	4e-15	PFAM
Pfam:AF-4	46	159	1.3e-30	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.7%
20x: 91.4%

Validation Efficiency

99% (90/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mice display embryonic and neonatal lethality with incomplete penetrance, abnormal respiration, and shrunken alveoli. Surviving males are infertile with azoospermia and arrest of spermatogenesis but, do not develop hematological abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,295,159		probably benign	Het
4933427I04Rik	A	G	4: 123,860,982	T230A	possibly damaging	Het
9230110C19Rik	T	A	9: 8,027,183	N118I	probably benign	Het
Acsm1	T	C	7: 119,662,189		probably benign	Het
Acta1	T	C	8: 123,893,657	N14S	probably damaging	Het
Aggf1	A	G	13: 95,364,959	I305T	probably benign	Het
Ap4b1	A	G	3: 103,820,429	D325G	possibly damaging	Het
Ap4e1	C	T	2: 127,064,985	T1055I	possibly damaging	Het
Arhgef2	A	T	3: 88,639,348	Q496L	probably damaging	Het
Arhgef28	A	G	13: 98,075,110	F122L	probably damaging	Het
Baiap3	G	A	17: 25,250,070		probably benign	Het
Casp8ap2	T	A	4: 32,640,327	H460Q	probably damaging	Het
Casz1	A	G	4: 148,933,411	T386A	probably benign	Het
Cd53	A	T	3: 106,767,409	V114E	possibly damaging	Het
Celsr2	A	G	3: 108,393,327		probably benign	Het
Chaf1b	G	T	16: 93,887,124	A88S	possibly damaging	Het
Cldn10	A	T	14: 118,874,200	Y194F	probably damaging	Het
Clec2e	A	C	6: 129,095,218		probably null	Het
Cmpk2	A	T	12: 26,478,022	T413S	probably benign	Het
Col9a1	T	A	1: 24,223,562		probably null	Het
Dchs1	G	T	7: 105,755,932	Q2468K	probably benign	Het
Ddx60	A	G	8: 61,942,293	D88G	probably damaging	Het
Dnah8	A	G	17: 30,784,090	R3588G	probably benign	Het
Ect2	C	T	3: 27,138,502	E431K	probably null	Het
Ect2	T	C	3: 27,115,476	T774A	probably benign	Het
Ern1	A	G	11: 106,405,823	V767A	probably damaging	Het
Fbln1	A	C	15: 85,224,288	E75A	possibly damaging	Het
Fgf5	C	T	5: 98,261,987	R132*	probably null	Het
Folh1	T	C	7: 86,725,868		probably benign	Het
Gdf15	A	T	8: 70,629,684	H257Q	probably damaging	Het
Ghitm	T	C	14: 37,122,219	T322A	probably benign	Het
Gm13212	A	T	4: 145,622,625	K211*	probably null	Het
Gm5709	A	G	3: 59,618,771		noncoding transcript	Het
Hbb-y	C	T	7: 103,852,743		probably null	Het
Hmcn2	A	T	2: 31,426,198	D3771V	probably damaging	Het
Hspa12a	T	C	19: 58,799,509	D627G	probably benign	Het
Idh2	T	C	7: 80,097,914	E286G	probably damaging	Het
Idh3b	C	A	2: 130,280,979	A297S	probably benign	Het
Igsf3	A	G	3: 101,435,652	E535G	probably damaging	Het
Ilf3	T	A	9: 21,395,414	D314E	probably damaging	Het
Itgb8	A	G	12: 119,202,563	S78P	probably benign	Het
Itih5	G	A	2: 10,164,684	V31I	probably benign	Het
Kcnj2	T	C	11: 111,073,027	V415A	probably benign	Het
Kin	A	G	2: 10,085,773	Q53R	possibly damaging	Het
Krt78	A	T	15: 101,947,837	M513K	probably benign	Het
Krtap4-8	A	T	11: 99,780,486		probably benign	Het
Ltbr	T	C	6: 125,309,449		probably benign	Het
Mgat4a	G	A	1: 37,490,333	T146I	probably damaging	Het
Mrps2	G	C	2: 28,468,256	W19C	probably damaging	Het
Mthfs	T	C	9: 89,211,291	S33P	probably damaging	Het
Myh6	T	C	14: 54,958,704	D546G	probably damaging	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Ndst2	T	C	14: 20,727,267	T553A	probably damaging	Het
Nlrp12	T	C	7: 3,240,034	E616G	probably damaging	Het
Nrde2	T	C	12: 100,129,286		probably benign	Het
Nup210l	G	A	3: 90,211,779	V1832I	probably benign	Het
Olfr1283	A	T	2: 111,369,294	I221F	probably damaging	Het
Olfr376	G	A	11: 73,375,576	V276I	probably benign	Het
Pcm1	A	T	8: 41,256,041	E9D	probably damaging	Het
Pear1	A	T	3: 87,754,342	D541E	possibly damaging	Het
Peg10	A	G	6: 4,756,063		probably benign	Het
Prss1	G	A	6: 41,461,232	R31Q	probably benign	Het
Ptpn13	T	C	5: 103,569,503	V1837A	probably damaging	Het
Rasgrp3	A	G	17: 75,498,461	D149G	probably damaging	Het
Reg3d	A	T	6: 78,378,483	H8Q	possibly damaging	Het
Rhox4f	A	C	X: 37,607,469	V15G	probably benign	Het
Sacs	T	A	14: 61,205,440	L1645H	probably damaging	Het
Slc16a5	A	T	11: 115,464,925	S71C	probably damaging	Het
Slc9a3	A	G	13: 74,158,728	E324G	probably damaging	Het
Smgc	T	C	15: 91,859,762	V574A	possibly damaging	Het
Stac3	C	T	10: 127,503,930		probably benign	Het
Supv3l1	A	G	10: 62,429,706	L685P	probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tas2r125	G	T	6: 132,910,398	A250S	probably benign	Het
Tdrd6	C	T	17: 43,628,241	V639I	probably benign	Het
Thap12	T	G	7: 98,715,893	W423G	probably damaging	Het
Tmem245	T	C	4: 56,899,410	I217V	probably benign	Het
Trip12	T	A	1: 84,732,136		probably benign	Het
Tshz3	T	C	7: 36,768,892	V102A	probably benign	Het
Ubap1	T	C	4: 41,379,826	S347P	probably damaging	Het
Usp10	C	T	8: 119,953,196	Q612*	probably null	Het
Vmn2r72	T	C	7: 85,754,876	I36V	probably benign	Het
Vps37a	T	C	8: 40,526,989	I63T	possibly damaging	Het
Whrn	C	A	4: 63,432,732	R9L	possibly damaging	Het
Xrcc1	T	C	7: 24,570,217	Y401H	probably damaging	Het
Ylpm1	GCCTAAGCAGCAACCTAAG	GCCTAAG	12: 85,029,040		probably benign	Het
Zfhx3	G	A	8: 108,950,057	D2580N	possibly damaging	Het
Zfhx4	A	G	3: 5,243,625	N637S	probably damaging	Het
Zyg11a	A	T	4: 108,201,347		probably benign	Het

Other mutations in Aff4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00793:Aff4	APN	11	53411990	missense	probably damaging	0.98
IGL01348:Aff4	APN	11	53402500	missense	probably benign
IGL01446:Aff4	APN	11	53415469	missense	probably damaging	0.99
IGL02151:Aff4	APN	11	53399806	missense	probably benign
IGL02526:Aff4	APN	11	53406682	splice site	probably benign
IGL02567:Aff4	APN	11	53372751	missense	possibly damaging	0.64
IGL02633:Aff4	APN	11	53409371	splice site	probably benign
IGL02707:Aff4	APN	11	53399740	missense	probably benign
R0128:Aff4	UTSW	11	53415466	missense	probably damaging	0.99
R0243:Aff4	UTSW	11	53397858	missense	possibly damaging	0.74
R0345:Aff4	UTSW	11	53372881	missense	probably benign	0.00
R0347:Aff4	UTSW	11	53400088	missense	probably benign	0.01
R0732:Aff4	UTSW	11	53375596	missense	probably benign
R0737:Aff4	UTSW	11	53410953	nonsense	probably null
R1464:Aff4	UTSW	11	53372524	missense	probably damaging	0.97
R1464:Aff4	UTSW	11	53372524	missense	probably damaging	0.97
R1500:Aff4	UTSW	11	53372378	missense	probably benign	0.00
R1693:Aff4	UTSW	11	53396553	missense	probably damaging	1.00
R1743:Aff4	UTSW	11	53368695	missense	possibly damaging	0.65
R1961:Aff4	UTSW	11	53372999	missense	probably damaging	1.00
R2048:Aff4	UTSW	11	53398385	missense	probably benign	0.39
R2138:Aff4	UTSW	11	53372512	missense	possibly damaging	0.94
R2155:Aff4	UTSW	11	53399619	missense	probably damaging	1.00
R2379:Aff4	UTSW	11	53408478	splice site	probably benign
R4156:Aff4	UTSW	11	53410899	intron	probably benign
R5001:Aff4	UTSW	11	53404357	missense	probably damaging	1.00
R5281:Aff4	UTSW	11	53372288	missense	probably damaging	1.00
R5477:Aff4	UTSW	11	53408472	critical splice donor site	probably null
R5677:Aff4	UTSW	11	53400275	missense	possibly damaging	0.55
R5992:Aff4	UTSW	11	53373010	missense	probably damaging	0.99
R6576:Aff4	UTSW	11	53400441	missense	probably damaging	1.00
R6764:Aff4	UTSW	11	53399830	missense	probably damaging	1.00
R6988:Aff4	UTSW	11	53398237	missense	probably damaging	1.00
R7034:Aff4	UTSW	11	53408409	missense	probably damaging	0.99
R7177:Aff4	UTSW	11	53406639	missense	probably benign	0.10
R7426:Aff4	UTSW	11	53372875	missense	probably damaging	1.00
R7755:Aff4	UTSW	11	53398379	missense	probably damaging	0.97
R7848:Aff4	UTSW	11	53404512	missense	probably benign	0.05
R7968:Aff4	UTSW	11	53409348	missense	probably damaging	1.00
R8159:Aff4	UTSW	11	53411894	missense	possibly damaging	0.71
R8218:Aff4	UTSW	11	53398257	missense	probably damaging	0.98
R8241:Aff4	UTSW	11	53400171	missense	probably benign	0.00
R8284:Aff4	UTSW	11	53404552	missense	probably damaging	0.99
R8373:Aff4	UTSW	11	53400267	nonsense	probably null
R8695:Aff4	UTSW	11	53368682	missense	probably damaging	1.00
R8777:Aff4	UTSW	11	53399956	missense	probably damaging	1.00
R8777-TAIL:Aff4	UTSW	11	53399956	missense	probably damaging	1.00
R8780:Aff4	UTSW	11	53380617	missense	probably damaging	1.00
R8798:Aff4	UTSW	11	53400508	critical splice donor site	probably benign
R8838:Aff4	UTSW	11	53406638	missense	possibly damaging	0.77
R8939:Aff4	UTSW	11	53372404	missense	probably benign
R9146:Aff4	UTSW	11	53408136	missense	probably benign	0.06
R9329:Aff4	UTSW	11	53397859	missense	probably damaging	1.00
R9378:Aff4	UTSW	11	53372479	missense	probably damaging	0.98
R9471:Aff4	UTSW	11	53380646	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- caccacgcccggTGACAAA -3'
(R):5'- GCATGGAAATGTATGTAGCTCAACAGTGAA -3'

Sequencing Primer
(F):5'- gcagccgagccagaaag -3'
(R):5'- cccaccaacctgaactgac -3'

Posted On

2013-04-11