Mutagenetix > Incidental Mutation

Incidental Mutation 'R7034:Aff4'

546554

Institutional Source

Beutler Lab

Gene Symbol

Aff4

Ensembl Gene

ENSMUSG00000049470

Gene Name

AF4/FMR2 family, member 4

Synonyms

Laf4l, Alf4

MMRRC Submission

045135-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7034 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53350833-53421830 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53408409 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 979 (K979E)

Ref Sequence

ENSEMBL: ENSMUSP00000051479 (fasta)

Gene Model

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

AlphaFold

Q9ESC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000060945
AA Change: K979E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000051479
Gene: ENSMUSG00000049470
AA Change: K979E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,609,256		probably null	Het
9030624J02Rik	T	C	7: 118,773,092	S290P	probably damaging	Het
9130011E15Rik	A	G	19: 45,965,249	I195T	probably damaging	Het
Adamts1	T	A	16: 85,802,746		probably benign	Het
Aftph	A	T	11: 20,692,498	M845K	probably damaging	Het
Akt2	T	C	7: 27,637,012		probably null	Het
Aldh1a7	A	T	19: 20,708,178	L336Q	possibly damaging	Het
Ank3	C	T	10: 69,999,379	T680M	probably damaging	Het
Apeh	T	C	9: 108,094,271	E59G	possibly damaging	Het
Armc8	C	T	9: 99,483,965		probably null	Het
Atp2b1	C	T	10: 98,987,310	T244I	probably damaging	Het
Btaf1	C	A	19: 37,004,469	T1633K	probably benign	Het
Cacng8	A	G	7: 3,415,303	S324G	probably benign	Het
Calcr	T	A	6: 3,692,543	Q400L	probably damaging	Het
Caprin2	G	A	6: 148,848,205	P536S	possibly damaging	Het
Ccdc54	A	T	16: 50,590,588	M105K	probably benign	Het
Ccna1	T	C	3: 55,046,039	E381G	possibly damaging	Het
Cd2ap	A	T	17: 42,798,599	L623Q	probably damaging	Het
Cdkl3	A	G	11: 52,027,215	E415G	probably benign	Het
Chd5	C	A	4: 152,360,941	L430I	possibly damaging	Het
Clspn	G	A	4: 126,580,982	E975K	possibly damaging	Het
Cobl	C	A	11: 12,254,177	V835F	probably damaging	Het
D430041D05Rik	C	A	2: 104,192,538	R1037L	probably damaging	Het
Derl1	A	G	15: 57,879,047		probably null	Het
Dhrs9	T	G	2: 69,393,176	N89K	probably benign	Het
Erich1	A	G	8: 14,064,330	I60T	probably benign	Het
Fam126b	T	A	1: 58,535,537	M282L	probably benign	Het
Fam155a	G	A	8: 9,770,589	P144S	possibly damaging	Het
Fam184a	A	T	10: 53,694,814	S408T	possibly damaging	Het
Fcgr4	T	A	1: 171,020,088	M85K	probably benign	Het
Foxj3	A	G	4: 119,619,300	E259G	probably damaging	Het
Galnt11	T	C	5: 25,258,813	I361T	probably damaging	Het
Gck	A	G	11: 5,901,747	S441P	probably damaging	Het
Gdap1l1	G	T	2: 163,446,145	V98F	probably damaging	Het
Gm13089	A	T	4: 143,697,328	I297N	probably damaging	Het
Gm884	T	A	11: 103,615,812		probably benign	Het
Gramd1a	A	G	7: 31,132,756		probably null	Het
Herc3	A	T	6: 58,876,855	M629L	probably benign	Het
Hist2h2ab	C	T	3: 96,219,988	Q25*	probably null	Het
Hoxc12	G	A	15: 102,938,360	G229D	probably damaging	Het
Itga9	T	C	9: 118,698,365	L528P	probably benign	Het
Krt39	A	C	11: 99,521,236	V8G	probably benign	Het
Krt71	A	G	15: 101,738,337	I312T	probably benign	Het
Mllt11	A	G	3: 95,220,433	Y9H	probably damaging	Het
Mrgpra3	G	T	7: 47,590,090	N29K	possibly damaging	Het
Mug1	A	G	6: 121,873,644	T700A	probably benign	Het
Myl1	T	C	1: 66,930,236	N79S	probably damaging	Het
Myo18b	G	A	5: 112,723,904	Q2104*	probably null	Het
Ndufs2	T	C	1: 171,238,308	D256G	probably benign	Het
Nek5	T	C	8: 22,107,723	N280S	probably benign	Het
Nwd2	A	T	5: 63,804,915	N614I	probably damaging	Het
Olfr794	G	A	10: 129,571,072	C139Y	possibly damaging	Het
Parp1	G	T	1: 180,598,252	K849N	possibly damaging	Het
Pcnx2	T	C	8: 125,785,302	T1422A	probably damaging	Het
Plce1	A	G	19: 38,739,357	N1520S	probably damaging	Het
Ppcdc	T	C	9: 57,415,170	T149A	probably damaging	Het
Ppl	A	G	16: 5,087,502	V1643A	probably benign	Het
Prrx1	T	A	1: 163,248,338	M220L	probably benign	Het
Pspc1	A	C	14: 56,758,628		probably null	Het
Ptpn20	A	G	14: 33,614,435	*44W	probably null	Het
Qars	T	A	9: 108,514,777	V83E	probably damaging	Het
Rbm33	T	C	5: 28,394,498	M956T	unknown	Het
Sash1	C	A	10: 8,730,083	E848*	probably null	Het
Scai	T	A	2: 39,121,135	Y163F	probably damaging	Het
Serpinf2	A	T	11: 75,438,418		probably benign	Het
Sgo2b	T	A	8: 63,926,834	H988L	probably benign	Het
Sh2b2	G	A	5: 136,218,885	T604I	probably benign	Het
Skint4	A	T	4: 112,158,084	I449F	possibly damaging	Het
Slc30a2	A	G	4: 134,347,342	I88V	possibly damaging	Het
Smug1	A	G	15: 103,155,942	L184P	probably damaging	Het
Spatc1	A	G	15: 76,283,880	T180A	probably benign	Het
Ssr1	A	T	13: 37,994,025	L20Q	probably null	Het
Supt4a	A	G	11: 87,743,258	E100G	probably damaging	Het
Teddm2	T	C	1: 153,850,574	I132V	probably benign	Het
Tmem131	C	T	1: 36,792,973	G1861E	possibly damaging	Het
Tpr	A	T	1: 150,423,607	H1186L	probably benign	Het
Trim34b	A	T	7: 104,329,536		probably benign	Het
Trpm2	T	C	10: 77,912,592	M1415V	probably benign	Het
Ttll12	A	G	15: 83,586,885	F264S	probably benign	Het
Vmn2r59	T	C	7: 42,046,220	E256G	probably benign	Het
Vmn2r93	A	T	17: 18,326,410	H848L	probably benign	Het
Wdfy3	G	A	5: 101,907,518	T1562I	probably damaging	Het
Ybey	T	C	10: 76,468,363	S2G	possibly damaging	Het
Zfp346	A	T	13: 55,132,387	Q308L	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
R0090:Aff4	UTSW	11	53392782	missense	probably benign	0.01
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
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
R9779:Aff4	UTSW	11	53372907	nonsense	probably null
R9796:Aff4	UTSW	11	53411997	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGACACGGTGGAGCTCATTAAG -3'
(R):5'- AGAGGTTGTGGAAGACTGATTC -3'

Sequencing Primer
(F):5'- GCTCATTAAGTAAGTGGGGACTATC -3'
(R):5'- GGAAGACTGATTCATGGGTAATACTC -3'

Posted On

2019-05-13