Mutagenetix > Incidental Mutation

Incidental Mutation 'R0732:Aff4'

67673

Institutional Source

Beutler Lab

Gene Symbol

Aff4

Ensembl Gene

ENSMUSG00000049470

Gene Name

AF4/FMR2 family, member 4

Synonyms

Laf4l, Alf4

MMRRC Submission

038913-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0732 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53350833-53421830 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53375596 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 304 (V304A)

Ref Sequence

ENSEMBL: ENSMUSP00000051479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060945] [ENSMUST00000153821]

AlphaFold

Q9ESC8

Predicted Effect

probably benign
Transcript: ENSMUST00000060945
AA Change: V304A

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

SMART Domains

Protein: ENSMUSP00000051479
Gene: ENSMUSG00000049470
AA Change: V304A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139054

Predicted Effect

unknown
Transcript: ENSMUST00000152616
AA Change: V33A

SMART Domains

Protein: ENSMUSP00000118866
Gene: ENSMUSG00000049470
AA Change: V33A

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

probably benign
Transcript: ENSMUST00000153821

SMART Domains

Protein: ENSMUSP00000120613
Gene: ENSMUSG00000049470

Domain	Start	End	E-Value	Type
Pfam:AF-4	2	122	4.1e-60	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.7%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,546,448	Y1175C	probably damaging	Het
Acsm3	T	C	7: 119,773,834	S187P	probably benign	Het
Adam28	T	C	14: 68,637,347	I294V	probably benign	Het
Adgrv1	T	C	13: 81,503,004	I3057M	possibly damaging	Het
Akr1b10	T	C	6: 34,390,109	Y108H	probably benign	Het
Ankib1	T	C	5: 3,713,163	N522S	possibly damaging	Het
Ano1	T	A	7: 144,619,488		probably null	Het
Antxr2	G	T	5: 97,960,708		probably null	Het
Arc	G	A	15: 74,671,195	T393I	probably damaging	Het
Arhgef33	A	G	17: 80,381,354	D5G	possibly damaging	Het
Atf2	A	T	2: 73,845,500	M169K	possibly damaging	Het
BC005624	T	A	2: 30,973,937	T215S	possibly damaging	Het
BC048403	T	C	10: 121,750,947	V253A	possibly damaging	Het
Bmp8b	G	A	4: 123,105,406	G19D	unknown	Het
Cacna1d	T	C	14: 30,042,920	N1987S	probably damaging	Het
Camta1	T	A	4: 151,586,484		probably null	Het
Catsperg2	C	T	7: 29,700,696	G316D	probably damaging	Het
Cbs	G	T	17: 31,625,029	N209K	probably benign	Het
Ccdc122	T	A	14: 77,091,759	M84K	probably damaging	Het
Cd5	C	T	19: 10,723,285	C285Y	probably damaging	Het
Chpf2	T	C	5: 24,590,421	M1T	probably null	Het
Coch	T	A	12: 51,595,372	D42E	probably damaging	Het
Crip2	C	T	12: 113,140,558		probably benign	Het
Crlf2	G	C	5: 109,557,138	P67R	probably damaging	Het
Cxcl16	G	T	11: 70,455,408	P233H	probably damaging	Het
Cyfip1	T	C	7: 55,886,781	I319T	probably damaging	Het
Ddhd2	T	C	8: 25,741,321	Q364R	probably damaging	Het
Ephx2	A	G	14: 66,086,963		probably null	Het
Exoc6b	C	A	6: 84,855,522	V397L	probably damaging	Het
Fam83b	T	A	9: 76,492,928	K298*	probably null	Het
Fbxo8	T	A	8: 56,591,529	I289N	probably damaging	Het
Fkbp9	T	A	6: 56,878,104	M536K	probably benign	Het
Flot1	C	T	17: 35,825,524	R190W	possibly damaging	Het
Gbp2b	T	A	3: 142,606,978	V374E	probably benign	Het
Gm884	T	C	11: 103,619,838	T435A	unknown	Het
Gna15	T	A	10: 81,512,556	S114C	probably damaging	Het
Gstt4	T	A	10: 75,817,321	T136S	probably benign	Het
Hcn3	C	T	3: 89,148,786	V524M	probably damaging	Het
Kctd16	A	T	18: 40,258,563	D68V	probably damaging	Het
Krt90	G	T	15: 101,560,425	F227L	possibly damaging	Het
Maip1	A	G	1: 57,411,835	Y212C	probably damaging	Het
Mamdc2	C	T	19: 23,378,869	D72N	probably damaging	Het
Marveld3	A	T	8: 109,948,483	Y234N	probably damaging	Het
Mas1	A	G	17: 12,841,747	I263T	probably benign	Het
Matk	T	A	10: 81,258,306		probably null	Het
Mrgpre	T	A	7: 143,781,566	I67F	possibly damaging	Het
Mthfd1	T	A	12: 76,294,174	I449N	probably damaging	Het
Nacc1	C	T	8: 84,676,201	R321Q	probably damaging	Het
Neb	T	C	2: 52,258,681	D2618G	probably damaging	Het
Neb	T	C	2: 52,291,268	Y1109C	probably damaging	Het
Nell1	T	G	7: 50,856,387	W781G	probably damaging	Het
Olfr1037	A	C	2: 86,085,584	S64R	probably benign	Het
Olfr1269	A	G	2: 90,119,322	V92A	probably benign	Het
Olfr1279	T	A	2: 111,306,980	Y258*	probably null	Het
Olfr281	T	C	15: 98,457,078	L256S	possibly damaging	Het
Olfr424	A	T	1: 174,137,415	I224F	possibly damaging	Het
Olfr497	C	A	7: 108,422,577	A2D	probably benign	Het
Olfr544	T	C	7: 102,484,443	I226V	probably benign	Het
Olfr646	T	C	7: 104,106,294	L5P	probably damaging	Het
Pcdh7	C	A	5: 57,721,315	D737E	probably damaging	Het
Pdss1	T	G	2: 22,901,312	M55R	probably benign	Het
Pex6	C	T	17: 46,724,700	R889W	probably damaging	Het
Pigl	T	A	11: 62,458,481	C8S	possibly damaging	Het
Plekha7	A	T	7: 116,145,237	M585K	probably damaging	Het
Ppp1r1a	C	T	15: 103,533,087	M66I	possibly damaging	Het
Ptcd3	A	T	6: 71,881,171		probably benign	Het
Rhov	A	T	2: 119,271,014	V37E	probably damaging	Het
Rnf213	A	T	11: 119,441,068	M2368L	probably damaging	Het
Skida1	T	C	2: 18,046,157		probably benign	Het
Slc25a28	T	C	19: 43,666,953	D161G	probably benign	Het
Smc6	T	C	12: 11,290,817	V490A	probably damaging	Het
Sohlh2	T	A	3: 55,190,373		probably null	Het
Stk31	A	G	6: 49,417,495	T264A	probably benign	Het
Syngap1	T	A	17: 26,954,988	S190R	possibly damaging	Het
Tacr1	T	A	6: 82,552,901	V200E	probably damaging	Het
Tbrg4	C	T	11: 6,620,812	R220H	probably benign	Het
Tcf20	A	G	15: 82,852,303	L1649P	probably benign	Het
Tcirg1	A	T	19: 3,897,866	L523Q	possibly damaging	Het
Tinag	T	A	9: 77,001,654	K335M	possibly damaging	Het
Tkt	T	G	14: 30,571,140		probably null	Het
Tnpo1	C	T	13: 98,863,812	R349H	probably damaging	Het
Trim26	T	A	17: 36,852,618	S230R	possibly damaging	Het
Trim8	T	A	19: 46,514,739		probably null	Het
Trp53bp1	T	C	2: 121,248,264	R326G	probably null	Het
Ugt2a2	A	T	5: 87,460,639	I613N	probably damaging	Het
Vmn1r32	T	C	6: 66,553,706	I29V	probably benign	Het
Wnt5b	C	T	6: 119,446,582	W27*	probably null	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
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

Predicted Primers

Posted On

2013-09-03