Mutagenetix > Incidental Mutation

Incidental Mutation 'R4156:Aff4'

315547

Institutional Source

Beutler Lab

Gene Symbol

Aff4

Ensembl Gene

ENSMUSG00000049470

Gene Name

AF4/FMR2 family, member 4

Synonyms

Laf4l, Alf4

MMRRC Submission

040862-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4156 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53350833-53421830 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 53410899 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000051479 (fasta)

Gene Model

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

AlphaFold

Q9ESC8

Predicted Effect

probably benign
Transcript: ENSMUST00000060945

SMART Domains

Protein: ENSMUSP00000051479
Gene: ENSMUSG00000049470

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195888

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

96% (44/46)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	T	A	3: 145,938,263	F69I	possibly damaging	Het
Acot12	C	T	13: 91,784,763	L552F	probably benign	Het
Aldh18a1	A	G	19: 40,551,281	V750A	probably damaging	Het
Anapc1	A	G	2: 128,627,229		probably benign	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Bcl11b	A	T	12: 107,917,425		probably null	Het
Ccpg1	C	A	9: 73,012,167	Q355K	probably benign	Het
Cdc42bpb	G	A	12: 111,294,139	P1702S	probably benign	Het
Ddx20	G	T	3: 105,678,933	Q699K	probably benign	Het
Ecd	A	G	14: 20,324,564	S503P	probably damaging	Het
Etaa1	C	T	11: 17,940,281	R860Q	probably damaging	Het
Ffar2	T	A	7: 30,819,668	Y149F	probably damaging	Het
Gamt	T	A	10: 80,260,724	R60*	probably null	Het
Gm1141	T	C	X: 71,939,555	C378R	possibly damaging	Het
Gm6871	T	C	7: 41,546,086	N302S	probably damaging	Het
Hps3	A	G	3: 20,029,229	S135P	probably damaging	Het
Ifi203	T	A	1: 173,936,540	N122I	probably damaging	Het
Leng9	T	C	7: 4,149,434	D81G	possibly damaging	Het
Lrrc23	T	A	6: 124,770,841	K262*	probably null	Het
Morc2b	T	A	17: 33,138,427	T124S	probably benign	Het
Mroh1	G	A	15: 76,402,126		probably null	Het
Naxe	T	C	3: 88,056,704	K240R	probably benign	Het
Ncan	C	A	8: 70,110,077	E510D	possibly damaging	Het
Ndufs4	A	T	13: 114,307,854	S129R	probably benign	Het
Olfr1062	C	A	2: 86,423,200	V159L	possibly damaging	Het
Olfr1098	T	C	2: 86,922,878	Y218C	probably damaging	Het
Olfr186	A	T	16: 59,027,568	F113Y	probably damaging	Het
Oog2	A	G	4: 144,193,953		probably benign	Het
Papola	G	A	12: 105,800,751		probably null	Het
Plec	A	G	15: 76,172,253	S4517P	probably damaging	Het
Rpap1	C	T	2: 119,774,179	R416H	probably damaging	Het
Rpl31-ps17	C	T	12: 54,701,612		noncoding transcript	Het
Rxfp2	G	A	5: 150,051,555	V210I	probably benign	Het
Ryr3	T	C	2: 112,653,675	D3909G	probably damaging	Het
Spata31d1a	T	A	13: 59,705,047	K76N	possibly damaging	Het
Srgn	A	G	10: 62,497,834	F55L	possibly damaging	Het
Tmem54	G	A	4: 129,110,711	R151Q	probably damaging	Het
Tns1	T	A	1: 73,914,631	N1848Y	probably damaging	Het
Trim33	G	T	3: 103,310,314	V192L	possibly damaging	Het
Trpm5	G	T	7: 143,089,055	L52I	probably benign	Het
Uaca	A	G	9: 60,871,753	S1141G	probably benign	Het
Vmn1r63	T	C	7: 5,803,532	T34A	possibly damaging	Het
Vmn2r50	T	C	7: 10,040,382	K529R	probably benign	Het
Vmn2r9	T	C	5: 108,847,877	T302A	possibly damaging	Het
Ylpm1	T	C	12: 85,057,403		probably benign	Het
Zfp410	G	A	12: 84,327,432	R181H	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
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
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

PCR Primer
(F):5'- ACATTCATACATCCTTTGCTGTTG -3'
(R):5'- GCCCTGGATTCAATTCCAAACAT -3'

Sequencing Primer
(F):5'- CCAGAGGAAGATCCAGATCTCTTG -3'
(R):5'- CAACCATTCTGCTGTCCAT -3'

Posted On

2015-05-14