Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01446:Aff4'

84414

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aff4

Ensembl Gene

ENSMUSG00000049470

Gene Name

AF4/FMR2 family, member 4

Synonyms

Laf4l, Alf4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01446

Quality Score

Status

Chromosome

Chromosomal Location

53350833-53421830 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 53415469 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 1146 (R1146L)

Ref Sequence

ENSEMBL: ENSMUSP00000051479 (fasta)

Gene Model

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

AlphaFold

Q9ESC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000060945
AA Change: R1146L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000051479
Gene: ENSMUSG00000049470
AA Change: R1146L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129019

Coding Region Coverage

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,403,834	T3719A	probably damaging	Het
Acaca	A	G	11: 84,260,631	K785R	probably damaging	Het
Acsm3	G	A	7: 119,778,454	V401M	probably damaging	Het
Alms1	C	A	6: 85,696,701	P3562T	probably damaging	Het
Arsj	A	G	3: 126,438,814	E403G	probably benign	Het
Baiap2l1	C	T	5: 144,275,913	V431I	probably benign	Het
Cecr2	T	A	6: 120,758,599	M904K	probably benign	Het
Cenpe	A	T	3: 135,237,539	T775S	probably benign	Het
Dennd1b	G	A	1: 139,023,110	E30K	possibly damaging	Het
Dnah5	A	G	15: 28,326,669	D2008G	probably damaging	Het
Dnm2	T	C	9: 21,481,376	V460A	probably damaging	Het
Ell2	G	T	13: 75,761,991	L285F	probably benign	Het
Erg	A	G	16: 95,361,282	S322P	probably damaging	Het
Extl3	A	G	14: 65,077,080	F218L	probably benign	Het
Fam84a	A	T	12: 14,149,928	I266N	probably damaging	Het
Fzd9	T	C	5: 135,250,566	E155G	probably damaging	Het
Ghr	A	G	15: 3,333,355	W212R	probably damaging	Het
Gulp1	A	G	1: 44,744,548		probably benign	Het
Hdgfl2	C	T	17: 56,097,281	R332C	possibly damaging	Het
Nsd2	T	C	5: 33,861,186		probably benign	Het
Olfr1259	A	G	2: 89,943,938	F59S	probably damaging	Het
Olfr1441	T	C	19: 12,422,801	I164T	possibly damaging	Het
Olfr1480	C	T	19: 13,530,252	T237I	probably benign	Het
Phf11b	A	C	14: 59,341,291	S9A	probably benign	Het
Psd4	T	C	2: 24,405,395	S854P	probably damaging	Het
Reln	C	T	5: 21,969,317	D1963N	probably damaging	Het
Rpe65	T	A	3: 159,600,405		probably benign	Het
Sdccag8	T	C	1: 176,845,245	S235P	probably damaging	Het
Sgip1	G	T	4: 102,928,913		probably null	Het
Skint5	G	A	4: 113,942,822	P36L	probably damaging	Het
Slc26a3	G	T	12: 31,452,491		probably benign	Het
Snx13	T	A	12: 35,124,480	C669*	probably null	Het
Svil	A	T	18: 5,062,385	T902S	probably damaging	Het
Syne2	T	C	12: 76,041,375	S4989P	probably damaging	Het
Ttn	G	A	2: 76,809,939	T13775M	probably damaging	Het
Ubr4	T	C	4: 139,438,040		probably benign	Het
Ush1c	C	T	7: 46,208,956	R636H	possibly damaging	Het
Usp17lc	A	T	7: 103,418,444	R315S	probably benign	Het
Vmn1r236	T	A	17: 21,286,656	V12D	probably benign	Het
Wsb2	T	G	5: 117,371,164	I170S	probably damaging	Het
Zfp800	G	A	6: 28,242,984	L661F	possibly damaging	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
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
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
R9779:Aff4	UTSW	11	53372907	nonsense	probably null
R9796:Aff4	UTSW	11	53411997	missense	probably damaging	0.98

Posted On

2013-11-11