Mutagenetix > Incidental Mutations

Incidental Mutation 'R0347:Aff4'

38466

Institutional Source

Beutler Lab

Gene Symbol

Aff4

Ensembl Gene

ENSMUSG00000049470

Gene Name

AF4/FMR2 family, member 4

Synonyms

Laf4l, Alf4

MMRRC Submission

038554-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0347 (G1)

Quality Score

132

Status

Validated

Chromosome

Chromosomal Location

53350833-53421830 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53400088 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 625 (Y625C)

Ref Sequence

ENSEMBL: ENSMUSP00000051479 (fasta)

Gene Model

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

AlphaFold

Q9ESC8

Predicted Effect

probably benign
Transcript: ENSMUST00000060945
AA Change: Y625C

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000051479
Gene: ENSMUSG00000049470
AA Change: Y625C

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

Meta Mutation Damage Score

0.0839

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.8%

Validation Efficiency

100% (78/78)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	A	T	10: 77,984,422	I209F	probably damaging	Het
5830411N06Rik	T	A	7: 140,297,854	H800Q	probably damaging	Het
Abca4	A	G	3: 122,120,099	E908G	probably benign	Het
Abcb5	T	A	12: 118,965,251		probably benign	Het
Adhfe1	T	A	1: 9,553,430	F102Y	probably benign	Het
Alox5	T	C	6: 116,413,552	E488G	possibly damaging	Het
Ankmy2	T	C	12: 36,193,754	C323R	probably damaging	Het
Ankrd28	A	G	14: 31,702,022	*1084R	probably null	Het
Apol10a	A	T	15: 77,488,691	I176F	probably damaging	Het
Arhgap26	C	T	18: 38,617,744	T70I	unknown	Het
Arid2	A	G	15: 96,370,952	N982S	probably benign	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Camsap3	A	G	8: 3,602,029	D291G	probably damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Cdc20b	G	T	13: 113,059,827	G162V	probably damaging	Het
Cep44	T	G	8: 56,545,475	E56A	probably damaging	Het
Cfap65	A	G	1: 74,926,444	L469P	probably damaging	Het
Cilp	T	A	9: 65,280,153	C1177S	probably benign	Het
Ctnnbip1	C	T	4: 149,545,754	P7S	probably damaging	Het
Cyp11a1	T	C	9: 58,016,260		probably benign	Het
Cyp3a11	C	T	5: 145,865,925	V253M	possibly damaging	Het
D630045J12Rik	C	A	6: 38,181,392	V1117L	probably damaging	Het
Dnah7b	T	A	1: 46,240,944	S2678T	probably damaging	Het
Dock1	T	C	7: 134,763,867	I428T	probably damaging	Het
Fam83f	A	G	15: 80,672,257	D114G	probably damaging	Het
Flt3	T	A	5: 147,357,992	N423I	probably damaging	Het
Fnbp1l	A	T	3: 122,590,175	F31L	probably damaging	Het
Glrx3	G	A	7: 137,437,701	E10K	unknown	Het
Gm12185	T	C	11: 48,915,182	E394G	probably benign	Het
Gm15448	A	T	7: 3,822,874	V332E	probably damaging	Het
Gpatch1	C	T	7: 35,297,631	V381M	probably benign	Het
Grm8	T	C	6: 27,981,222	S230G	probably benign	Het
Heyl	A	T	4: 123,233,940	D25V	probably benign	Het
Junb	G	A	8: 84,978,478		probably benign	Het
Klhl29	C	A	12: 5,084,354	V747F	probably damaging	Het
Krt77	T	C	15: 101,859,869	H569R	unknown	Het
Ldhb	T	C	6: 142,494,133	N227S	probably benign	Het
Megf6	A	G	4: 154,254,635	D543G	possibly damaging	Het
Mrps23	A	T	11: 88,210,693	Q136L	probably benign	Het
Myh2	C	T	11: 67,185,304		probably benign	Het
Nadk2	T	A	15: 9,084,207	D133E	probably benign	Het
Neurod4	G	A	10: 130,271,111	T98I	probably damaging	Het
Nfatc2	G	T	2: 168,536,290	T465K	probably damaging	Het
Nipbl	A	G	15: 8,350,732	S859P	probably benign	Het
Nipsnap3a	T	C	4: 52,997,155		probably benign	Het
Nlrp4c	A	G	7: 6,066,416	K439E	possibly damaging	Het
Olfr1419	A	T	19: 11,870,433	L261H	probably damaging	Het
Olfr392	C	T	11: 73,814,311	G257D	probably damaging	Het
Olfr434	T	C	6: 43,217,362	F150L	probably benign	Het
Pds5b	T	A	5: 150,736,427		probably benign	Het
Plch1	A	G	3: 63,753,316	M282T	probably damaging	Het
Plch2	C	A	4: 154,986,721	R1067L	possibly damaging	Het
Pou2f2	A	C	7: 25,097,701	F206V	probably damaging	Het
Prss50	A	G	9: 110,862,350	I49V	probably damaging	Het
Rexo5	T	A	7: 119,823,896		probably null	Het
Rgl2	C	T	17: 33,932,738	T252I	probably damaging	Het
Rp1l1	A	T	14: 64,030,804	K1280*	probably null	Het
Rpl24	T	A	16: 55,970,177		probably null	Het
Satb1	T	A	17: 51,739,906	K763*	probably null	Het
Sema6a	T	A	18: 47,291,129	R237S	probably damaging	Het
Spg11	T	C	2: 122,097,369	T645A	probably damaging	Het
Srrt	T	A	5: 137,299,676		probably benign	Het
Tanc1	T	C	2: 59,842,991	V1480A	probably benign	Het
Tbc1d2	T	C	4: 46,620,574	D412G	possibly damaging	Het
Tecrl	T	C	5: 83,294,632	E198G	probably damaging	Het
Tigd4	A	G	3: 84,593,860	D28G	probably damaging	Het
Trp53bp2	T	G	1: 182,441,648	L226V	probably benign	Het
Ttll13	T	C	7: 80,260,505	S799P	possibly damaging	Het
Vps13c	A	T	9: 67,910,233	Q1062H	possibly damaging	Het
Wnt10a	T	G	1: 74,793,543	H98Q	probably damaging	Het
Zfp651	C	T	9: 121,763,102	P198S	probably damaging	Het
Zfp959	T	A	17: 55,897,180	Y69*	probably null	Het
Znrd1as	T	A	17: 36,965,315	M114K	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTACCACTCAGAGGAGAACTGTCG -3'
(R):5'- CCATAGGAGAGAACATTCGTTGCCG -3'

Sequencing Primer
(F):5'- CCAAAAAACCTGAGAAGTCAGC -3'
(R):5'- CGTTGCCGAAAAAAGCTATCTTC -3'

Posted On

2013-05-23