Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01348:Aff4'

75149

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01348

Quality Score

Status

Chromosome

Chromosomal Location

53350833-53421830 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 53402500 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 772 (S772N)

Ref Sequence

ENSEMBL: ENSMUSP00000051479 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000060945
AA Change: S772N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000051479
Gene: ENSMUSG00000049470
AA Change: S772N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130152

Predicted Effect

probably benign
Transcript: ENSMUST00000152616

SMART Domains

Protein: ENSMUSP00000118866
Gene: ENSMUSG00000049470

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154499

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,517,213	E140G	probably null	Het
8030462N17Rik	A	G	18: 77,673,917	I233T	possibly damaging	Het
Adgrl3	A	G	5: 81,726,723	T956A	probably damaging	Het
Atad5	A	G	11: 80,095,564	I492M	probably benign	Het
Atf4	T	C	15: 80,256,527		probably benign	Het
Atrip	A	G	9: 109,069,295	S219P	probably damaging	Het
Axl	G	A	7: 25,763,309	R656W	probably damaging	Het
B3gnt3	T	A	8: 71,693,004	Q240L	possibly damaging	Het
Baz2b	A	G	2: 59,933,687	V915A	possibly damaging	Het
C330027C09Rik	A	G	16: 49,013,188	I551V	probably damaging	Het
Cacna1s	T	C	1: 136,075,152	V329A	possibly damaging	Het
Celf3	C	A	3: 94,488,228	Q388K	possibly damaging	Het
Ciita	T	C	16: 10,510,727	S292P	probably damaging	Het
Clec18a	G	A	8: 111,071,613	A423V	probably damaging	Het
Clnk	T	C	5: 38,713,207	D336G	probably damaging	Het
Csmd1	T	G	8: 15,910,596	H3273P	probably damaging	Het
Cyp3a11	A	T	5: 145,869,007	V157E	possibly damaging	Het
Dcp1b	T	C	6: 119,183,718	I87T	probably damaging	Het
Ell3	A	G	2: 121,441,796	S66P	probably damaging	Het
Ercc4	T	C	16: 13,132,934	F631L	probably damaging	Het
Etl4	T	A	2: 20,806,973	V1289D	probably damaging	Het
Gm16372	T	C	12: 24,493,607		probably benign	Het
Gm4553	C	T	7: 142,165,172	C173Y	unknown	Het
Gm8989	T	A	7: 106,329,835	H285L	unknown	Het
Gykl1	A	T	18: 52,694,736	I339F	possibly damaging	Het
H60b	A	C	10: 22,286,179	N101T	possibly damaging	Het
Inpp4a	C	T	1: 37,388,905	T407I	probably damaging	Het
Itga11	A	G	9: 62,744,579	N331S	possibly damaging	Het
Kbtbd6	T	A	14: 79,453,343	C430S	probably damaging	Het
Mfsd4a	T	C	1: 132,067,826	S1G	probably null	Het
Mybpc2	C	A	7: 44,515,928	M372I	probably benign	Het
Myh10	A	T	11: 68,811,803	T1768S	probably benign	Het
Myh8	A	G	11: 67,297,780	K1063E	probably damaging	Het
Nat8f5	A	T	6: 85,817,880	F33I	probably damaging	Het
Nbeal2	T	G	9: 110,629,146	N2119T	probably damaging	Het
Nek11	C	T	9: 105,392,913	G37S	probably damaging	Het
Npc1l1	T	C	11: 6,227,974	N479D	probably damaging	Het
Nup160	A	G	2: 90,700,428	T477A	probably benign	Het
Olfr121	A	T	17: 37,752,286	H144L	probably benign	Het
Olfr186	T	A	16: 59,027,794	T38S	probably damaging	Het
Pcgf2	A	G	11: 97,690,240	V259A	probably benign	Het
Pmm1	A	G	15: 81,952,018	V131A	probably damaging	Het
Polr3a	A	T	14: 24,461,763	D908E	probably damaging	Het
Psg29	A	C	7: 17,210,673	R369S	probably benign	Het
Ptprq	T	A	10: 107,711,904	D211V	probably damaging	Het
Rdh9	A	G	10: 127,776,792	N103S	probably benign	Het
Riok3	T	C	18: 12,152,963		probably benign	Het
Serpinb1b	A	T	13: 33,091,415	Q174H	probably benign	Het
Sgip1	G	T	4: 102,915,156		probably null	Het
Sgpp1	A	T	12: 75,734,993	Y191N	probably damaging	Het
Slc12a1	A	G	2: 125,194,131	N641S	probably damaging	Het
Slc5a4b	T	C	10: 76,070,588	N399S	probably damaging	Het
Snx16	C	T	3: 10,419,159	A335T	probably damaging	Het
Sos2	C	T	12: 69,618,092	R355H	probably damaging	Het
Szt2	A	G	4: 118,393,624		probably benign	Het
Tbcd	T	A	11: 121,497,076	D344E	probably benign	Het
Tek	C	A	4: 94,859,658	Q988K	probably damaging	Het
Tgm6	A	G	2: 130,137,379	D143G	probably damaging	Het
Tpx2	A	G	2: 152,893,591	K713R	probably damaging	Het
Trappc9	T	A	15: 72,937,009	E556V	possibly damaging	Het
Trpm6	A	T	19: 18,877,651	K1891N	probably damaging	Het
Trpv1	G	A	11: 73,238,252		probably null	Het
Usp37	T	C	1: 74,461,702	S567G	probably damaging	Het
Zfp773	A	T	7: 7,135,315	V107D	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
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
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

Posted On

2013-10-07