Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02707:Aff4'

304409

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 #

IGL02707

Quality Score

Status

Chromosome

Chromosomal Location

53350833-53421830 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53399740 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 509 (N509S)

Ref Sequence

ENSEMBL: ENSMUSP00000051479 (fasta)

Gene Model

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

AlphaFold

Q9ESC8

Predicted Effect

probably benign
Transcript: ENSMUST00000060945
AA Change: N509S

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

SMART Domains

Protein: ENSMUSP00000051479
Gene: ENSMUSG00000049470
AA Change: N509S

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,258,645	T149A	probably benign	Het
4932414N04Rik	A	C	2: 68,731,130	Q267P	possibly damaging	Het
Actr5	T	C	2: 158,636,697	V489A	probably benign	Het
Adam26b	T	C	8: 43,519,858		probably benign	Het
Arhgap22	C	T	14: 33,363,272		probably benign	Het
Arhgap9	C	A	10: 127,329,607	H628Q	probably damaging	Het
Asap1	A	T	15: 64,129,274	I486N	probably damaging	Het
Asb15	A	T	6: 24,558,788		probably benign	Het
Avil	A	G	10: 127,006,562	D70G	probably damaging	Het
Cct6b	T	C	11: 82,754,954		probably benign	Het
Cep63	A	T	9: 102,586,981	I717K	probably damaging	Het
Chd4	G	T	6: 125,108,767	A875S	probably damaging	Het
Col4a4	A	T	1: 82,493,516	M706K	unknown	Het
Cr1l	T	C	1: 195,123,711	T155A	probably benign	Het
Ctnna3	A	G	10: 63,504,065	N10S	probably benign	Het
Cubn	A	G	2: 13,446,032	V854A	probably damaging	Het
Dgkh	T	C	14: 78,585,651	T845A	possibly damaging	Het
F10	G	A	8: 13,048,252	A152T	probably damaging	Het
Gabrg3	C	A	7: 56,982,691	E170*	probably null	Het
Heatr5a	A	G	12: 51,921,366	V829A	probably benign	Het
Htt	T	A	5: 34,829,881		probably null	Het
Icam4	T	C	9: 21,030,474	Y257H	possibly damaging	Het
Jph1	A	G	1: 17,004,451	S448P	probably benign	Het
Kansl1l	G	A	1: 66,773,445	L125F	probably damaging	Het
Kifc1	A	T	17: 33,881,493	C46*	probably null	Het
Lce3b	A	G	3: 92,933,886	D96G	unknown	Het
Mab21l1	A	T	3: 55,783,084	I31F	possibly damaging	Het
Mctp2	A	G	7: 72,259,341	Y75H	possibly damaging	Het
Mesp2	A	G	7: 79,811,526	I200V	probably benign	Het
Msr1	T	C	8: 39,632,829		probably benign	Het
Mtfr2	C	T	10: 20,348,338	T6I	probably benign	Het
Myo5b	T	C	18: 74,695,367		probably benign	Het
Myoc	T	A	1: 162,639,460	I66N	probably benign	Het
Olfr1242	A	T	2: 89,493,827	Y162N	probably damaging	Het
Olfr1355	T	C	10: 78,879,925	L251S	probably damaging	Het
Olfr149	T	C	9: 39,702,641	I43V	probably damaging	Het
Olfr639	A	C	7: 104,012,402	L100W	probably damaging	Het
Olfr659	T	C	7: 104,670,929	C76R	probably damaging	Het
Olfr667	A	G	7: 104,916,652	C215R	probably damaging	Het
Per2	T	C	1: 91,450,728	D33G	possibly damaging	Het
Pknox1	A	G	17: 31,602,819	I295V	possibly damaging	Het
Rgs11	G	A	17: 26,207,631	V279I	probably benign	Het
Rhot2	A	G	17: 25,844,296	S19P	probably damaging	Het
Rps6kb1	C	A	11: 86,535,410		probably null	Het
Serpinb1b	C	T	13: 33,091,665	T194I	probably benign	Het
Smarcad1	T	A	6: 65,052,806		probably benign	Het
Stxbp4	A	G	11: 90,537,933	S449P	probably benign	Het
Thrb	A	C	14: 18,026,721	I275L	probably benign	Het
Tjp1	T	A	7: 65,329,683	K365*	probably null	Het
Tjp1	T	A	7: 65,329,682	K365I	possibly damaging	Het
Tm4sf4	C	A	3: 57,426,518	C75*	probably null	Het
Tmem131	T	C	1: 36,825,479	T558A	probably benign	Het
Txndc16	T	C	14: 45,162,273	T408A	probably benign	Het
Ube2j1	T	C	4: 33,038,206	L38P	possibly damaging	Het
Urb2	T	C	8: 124,030,686	I1044T	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
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

Posted On

2015-04-16