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

53241660-53312657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53299236 bp (GRCm39)

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: 100,445,118 (GRCm39)		probably null	Het
Adamts1	T	A	16: 85,599,634 (GRCm39)		probably benign	Het
Aftph	A	T	11: 20,642,498 (GRCm39)	M845K	probably damaging	Het
Akt2	T	C	7: 27,336,437 (GRCm39)		probably null	Het
Aldh1a7	A	T	19: 20,685,542 (GRCm39)	L336Q	possibly damaging	Het
Ank3	C	T	10: 69,835,209 (GRCm39)	T680M	probably damaging	Het
Apeh	T	C	9: 107,971,470 (GRCm39)	E59G	possibly damaging	Het
Armc8	C	T	9: 99,366,018 (GRCm39)		probably null	Het
Armh3	A	G	19: 45,953,688 (GRCm39)	I195T	probably damaging	Het
Atp2b1	C	T	10: 98,823,172 (GRCm39)	T244I	probably damaging	Het
Btaf1	C	A	19: 36,981,869 (GRCm39)	T1633K	probably benign	Het
Cacng8	A	G	7: 3,463,819 (GRCm39)	S324G	probably benign	Het
Calcr	T	A	6: 3,692,543 (GRCm39)	Q400L	probably damaging	Het
Caprin2	G	A	6: 148,749,703 (GRCm39)	P536S	possibly damaging	Het
Ccdc54	A	T	16: 50,410,951 (GRCm39)	M105K	probably benign	Het
Ccna1	T	C	3: 54,953,460 (GRCm39)	E381G	possibly damaging	Het
Cd2ap	A	T	17: 43,109,490 (GRCm39)	L623Q	probably damaging	Het
Cdkl3	A	G	11: 51,918,042 (GRCm39)	E415G	probably benign	Het
Chd5	C	A	4: 152,445,398 (GRCm39)	L430I	possibly damaging	Het
Clspn	G	A	4: 126,474,775 (GRCm39)	E975K	possibly damaging	Het
Cobl	C	A	11: 12,204,177 (GRCm39)	V835F	probably damaging	Het
D430041D05Rik	C	A	2: 104,022,883 (GRCm39)	R1037L	probably damaging	Het
Derl1	A	G	15: 57,742,443 (GRCm39)		probably null	Het
Dhrs9	T	G	2: 69,223,520 (GRCm39)	N89K	probably benign	Het
Erich1	A	G	8: 14,114,330 (GRCm39)	I60T	probably benign	Het
Fam184a	A	T	10: 53,570,910 (GRCm39)	S408T	possibly damaging	Het
Fcgr4	T	A	1: 170,847,657 (GRCm39)	M85K	probably benign	Het
Foxj3	A	G	4: 119,476,497 (GRCm39)	E259G	probably damaging	Het
Galnt11	T	C	5: 25,463,811 (GRCm39)	I361T	probably damaging	Het
Gck	A	G	11: 5,851,747 (GRCm39)	S441P	probably damaging	Het
Gdap1l1	G	T	2: 163,288,065 (GRCm39)	V98F	probably damaging	Het
Gramd1a	A	G	7: 30,832,181 (GRCm39)		probably null	Het
H2ac21	C	T	3: 96,127,304 (GRCm39)	Q25*	probably null	Het
Herc3	A	T	6: 58,853,840 (GRCm39)	M629L	probably benign	Het
Hoxc12	G	A	15: 102,846,795 (GRCm39)	G229D	probably damaging	Het
Hycc2	T	A	1: 58,574,696 (GRCm39)	M282L	probably benign	Het
Itga9	T	C	9: 118,527,433 (GRCm39)	L528P	probably benign	Het
Krt39	A	C	11: 99,412,062 (GRCm39)	V8G	probably benign	Het
Krt71	A	G	15: 101,646,772 (GRCm39)	I312T	probably benign	Het
Lrrc37	T	A	11: 103,506,638 (GRCm39)		probably benign	Het
Mllt11	A	G	3: 95,127,744 (GRCm39)	Y9H	probably damaging	Het
Mrgpra3	G	T	7: 47,239,838 (GRCm39)	N29K	possibly damaging	Het
Mug1	A	G	6: 121,850,603 (GRCm39)	T700A	probably benign	Het
Myl1	T	C	1: 66,969,395 (GRCm39)	N79S	probably damaging	Het
Myo18b	G	A	5: 112,871,770 (GRCm39)	Q2104*	probably null	Het
Nalf1	G	A	8: 9,820,589 (GRCm39)	P144S	possibly damaging	Het
Ndufs2	T	C	1: 171,065,877 (GRCm39)	D256G	probably benign	Het
Nek5	T	C	8: 22,597,739 (GRCm39)	N280S	probably benign	Het
Nwd2	A	T	5: 63,962,258 (GRCm39)	N614I	probably damaging	Het
Or6c88	G	A	10: 129,406,941 (GRCm39)	C139Y	possibly damaging	Het
Parp1	G	T	1: 180,425,817 (GRCm39)	K849N	possibly damaging	Het
Pcnx2	T	C	8: 126,512,041 (GRCm39)	T1422A	probably damaging	Het
Plce1	A	G	19: 38,727,801 (GRCm39)	N1520S	probably damaging	Het
Ppcdc	T	C	9: 57,322,453 (GRCm39)	T149A	probably damaging	Het
Ppl	A	G	16: 4,905,366 (GRCm39)	V1643A	probably benign	Het
Pramel23	A	T	4: 143,423,898 (GRCm39)	I297N	probably damaging	Het
Prrx1	T	A	1: 163,075,907 (GRCm39)	M220L	probably benign	Het
Pspc1	A	C	14: 56,996,085 (GRCm39)		probably null	Het
Ptpn20	A	G	14: 33,336,392 (GRCm39)	*44W	probably null	Het
Qars1	T	A	9: 108,391,976 (GRCm39)	V83E	probably damaging	Het
Rbm33	T	C	5: 28,599,496 (GRCm39)	M956T	unknown	Het
Sash1	C	A	10: 8,605,847 (GRCm39)	E848*	probably null	Het
Scai	T	A	2: 39,011,147 (GRCm39)	Y163F	probably damaging	Het
Serpinf2	A	T	11: 75,329,244 (GRCm39)		probably benign	Het
Sgo2b	T	A	8: 64,379,868 (GRCm39)	H988L	probably benign	Het
Sh2b2	G	A	5: 136,247,739 (GRCm39)	T604I	probably benign	Het
Skint4	A	T	4: 112,015,281 (GRCm39)	I449F	possibly damaging	Het
Slc30a2	A	G	4: 134,074,653 (GRCm39)	I88V	possibly damaging	Het
Smug1	A	G	15: 103,064,369 (GRCm39)	L184P	probably damaging	Het
Spatc1	A	G	15: 76,168,080 (GRCm39)	T180A	probably benign	Het
Ssr1	A	T	13: 38,178,001 (GRCm39)	L20Q	probably null	Het
Supt4a	A	G	11: 87,634,084 (GRCm39)	E100G	probably damaging	Het
Teddm2	T	C	1: 153,726,320 (GRCm39)	I132V	probably benign	Het
Tmem131	C	T	1: 36,832,054 (GRCm39)	G1861E	possibly damaging	Het
Tpr	A	T	1: 150,299,358 (GRCm39)	H1186L	probably benign	Het
Trim34b	A	T	7: 103,978,743 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,748,426 (GRCm39)	M1415V	probably benign	Het
Ttll12	A	G	15: 83,471,086 (GRCm39)	F264S	probably benign	Het
Vmn2r59	T	C	7: 41,695,644 (GRCm39)	E256G	probably benign	Het
Vmn2r93	A	T	17: 18,546,672 (GRCm39)	H848L	probably benign	Het
Vps35l	T	C	7: 118,372,315 (GRCm39)	S290P	probably damaging	Het
Wdfy3	G	A	5: 102,055,384 (GRCm39)	T1562I	probably damaging	Het
Ybey	T	C	10: 76,304,197 (GRCm39)	S2G	possibly damaging	Het
Zfp346	A	T	13: 55,280,200 (GRCm39)	Q308L	probably benign	Het

Other mutations in Aff4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00793:Aff4	APN	11	53,302,817 (GRCm39)	missense	probably damaging	0.98
IGL01348:Aff4	APN	11	53,293,327 (GRCm39)	missense	probably benign
IGL01446:Aff4	APN	11	53,306,296 (GRCm39)	missense	probably damaging	0.99
IGL02151:Aff4	APN	11	53,290,633 (GRCm39)	missense	probably benign
IGL02526:Aff4	APN	11	53,297,509 (GRCm39)	splice site	probably benign
IGL02567:Aff4	APN	11	53,263,578 (GRCm39)	missense	possibly damaging	0.64
IGL02633:Aff4	APN	11	53,300,198 (GRCm39)	splice site	probably benign
IGL02707:Aff4	APN	11	53,290,567 (GRCm39)	missense	probably benign
R0090:Aff4	UTSW	11	53,283,609 (GRCm39)	missense	probably benign	0.01
R0128:Aff4	UTSW	11	53,306,293 (GRCm39)	missense	probably damaging	0.99
R0243:Aff4	UTSW	11	53,288,685 (GRCm39)	missense	possibly damaging	0.74
R0345:Aff4	UTSW	11	53,263,708 (GRCm39)	missense	probably benign	0.00
R0347:Aff4	UTSW	11	53,290,915 (GRCm39)	missense	probably benign	0.01
R0732:Aff4	UTSW	11	53,266,423 (GRCm39)	missense	probably benign
R0737:Aff4	UTSW	11	53,301,780 (GRCm39)	nonsense	probably null
R1464:Aff4	UTSW	11	53,263,351 (GRCm39)	missense	probably damaging	0.97
R1464:Aff4	UTSW	11	53,263,351 (GRCm39)	missense	probably damaging	0.97
R1500:Aff4	UTSW	11	53,263,205 (GRCm39)	missense	probably benign	0.00
R1693:Aff4	UTSW	11	53,287,380 (GRCm39)	missense	probably damaging	1.00
R1743:Aff4	UTSW	11	53,259,522 (GRCm39)	missense	possibly damaging	0.65
R1961:Aff4	UTSW	11	53,263,826 (GRCm39)	missense	probably damaging	1.00
R2048:Aff4	UTSW	11	53,289,212 (GRCm39)	missense	probably benign	0.39
R2138:Aff4	UTSW	11	53,263,339 (GRCm39)	missense	possibly damaging	0.94
R2155:Aff4	UTSW	11	53,290,446 (GRCm39)	missense	probably damaging	1.00
R2379:Aff4	UTSW	11	53,299,305 (GRCm39)	splice site	probably benign
R4156:Aff4	UTSW	11	53,301,726 (GRCm39)	intron	probably benign
R5001:Aff4	UTSW	11	53,295,184 (GRCm39)	missense	probably damaging	1.00
R5281:Aff4	UTSW	11	53,263,115 (GRCm39)	missense	probably damaging	1.00
R5477:Aff4	UTSW	11	53,299,299 (GRCm39)	critical splice donor site	probably null
R5677:Aff4	UTSW	11	53,291,102 (GRCm39)	missense	possibly damaging	0.55
R5992:Aff4	UTSW	11	53,263,837 (GRCm39)	missense	probably damaging	0.99
R6576:Aff4	UTSW	11	53,291,268 (GRCm39)	missense	probably damaging	1.00
R6764:Aff4	UTSW	11	53,290,657 (GRCm39)	missense	probably damaging	1.00
R6988:Aff4	UTSW	11	53,289,064 (GRCm39)	missense	probably damaging	1.00
R7177:Aff4	UTSW	11	53,297,466 (GRCm39)	missense	probably benign	0.10
R7426:Aff4	UTSW	11	53,263,702 (GRCm39)	missense	probably damaging	1.00
R7755:Aff4	UTSW	11	53,289,206 (GRCm39)	missense	probably damaging	0.97
R7848:Aff4	UTSW	11	53,295,339 (GRCm39)	missense	probably benign	0.05
R7968:Aff4	UTSW	11	53,300,175 (GRCm39)	missense	probably damaging	1.00
R8159:Aff4	UTSW	11	53,302,721 (GRCm39)	missense	possibly damaging	0.71
R8218:Aff4	UTSW	11	53,289,084 (GRCm39)	missense	probably damaging	0.98
R8241:Aff4	UTSW	11	53,290,998 (GRCm39)	missense	probably benign	0.00
R8284:Aff4	UTSW	11	53,295,379 (GRCm39)	missense	probably damaging	0.99
R8373:Aff4	UTSW	11	53,291,094 (GRCm39)	nonsense	probably null
R8695:Aff4	UTSW	11	53,259,509 (GRCm39)	missense	probably damaging	1.00
R8777:Aff4	UTSW	11	53,290,783 (GRCm39)	missense	probably damaging	1.00
R8777-TAIL:Aff4	UTSW	11	53,290,783 (GRCm39)	missense	probably damaging	1.00
R8780:Aff4	UTSW	11	53,271,444 (GRCm39)	missense	probably damaging	1.00
R8798:Aff4	UTSW	11	53,291,335 (GRCm39)	critical splice donor site	probably benign
R8838:Aff4	UTSW	11	53,297,465 (GRCm39)	missense	possibly damaging	0.77
R8939:Aff4	UTSW	11	53,263,231 (GRCm39)	missense	probably benign
R9146:Aff4	UTSW	11	53,298,963 (GRCm39)	missense	probably benign	0.06
R9329:Aff4	UTSW	11	53,288,686 (GRCm39)	missense	probably damaging	1.00
R9378:Aff4	UTSW	11	53,263,306 (GRCm39)	missense	probably damaging	0.98
R9471:Aff4	UTSW	11	53,271,473 (GRCm39)	missense	probably benign	0.13
R9779:Aff4	UTSW	11	53,263,734 (GRCm39)	nonsense	probably null
R9796:Aff4	UTSW	11	53,302,824 (GRCm39)	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