Mutagenetix > Incidental Mutation

Incidental Mutation 'R8798:Aff4'

671393

Institutional Source

Beutler Lab

Gene Symbol

Aff4

Ensembl Gene

ENSMUSG00000049470

Gene Name

AF4/FMR2 family, member 4

Synonyms

Laf4l, Alf4

MMRRC Submission

068724-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8798 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53350833-53421830 bp(+) (GRCm38)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

T to C at 53400508 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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	G	A	8: 79,210,751	R176*	probably null	Het
2610044O15Rik8	G	A	8: 129,219,298	H349Y	probably damaging	Het
4921539E11Rik	A	C	4: 103,266,377		probably benign	Het
A430078G23Rik	T	A	8: 3,364,645	Y8N	probably benign	Het
Abcc2	A	G	19: 43,808,666	N492S	probably benign	Het
Acox1	T	C	11: 116,174,357	Y624C	probably damaging	Het
Ak9	T	A	10: 41,382,851	D781E		Het
Arfgef3	T	C	10: 18,647,051	D409G	probably damaging	Het
Blnk	A	G	19: 40,962,351	Y119H	probably damaging	Het
Brsk2	T	C	7: 141,987,864	L310P	probably damaging	Het
Cit	T	A	5: 115,969,043	L1078Q	probably damaging	Het
Cpn1	A	T	19: 43,986,236	V18D	possibly damaging	Het
Csmd3	A	T	15: 47,731,986	Y1115N		Het
Dnah9	A	C	11: 65,905,231	V3589G	probably damaging	Het
Dpp9	T	C	17: 56,199,037	Y454C	probably damaging	Het
Eif3i	A	G	4: 129,596,924	V67A	probably benign	Het
Eif6	T	C	2: 155,822,966	N200S	probably damaging	Het
Fbxo10	T	C	4: 45,051,605	H502R	possibly damaging	Het
Fcer1a	A	G	1: 173,225,480	Y50H	probably benign	Het
Filip1	G	A	9: 79,820,090	H416Y	possibly damaging	Het
Frmpd1	A	T	4: 45,285,424	N1415I	possibly damaging	Het
Gdpgp1	C	T	7: 80,238,977	P252L	probably damaging	Het
Gm340	C	T	19: 41,585,259	R818W	probably damaging	Het
Gsap	T	C	5: 21,271,250		probably null	Het
Hgs	T	C	11: 120,480,112	V598A	probably benign	Het
Irf2	G	T	8: 46,807,314	V94L	probably benign	Het
Kalrn	G	T	16: 33,982,855	H2675Q	possibly damaging	Het
Klhl33	C	A	14: 50,893,108	A50S	possibly damaging	Het
Klk1b11	T	C	7: 43,995,948	I15T	probably benign	Het
Lrrn3	A	G	12: 41,453,175	M381T	possibly damaging	Het
Ltbr	A	G	6: 125,307,295	Y395H	probably benign	Het
Ltf	A	G	9: 111,023,760		probably benign	Het
Ly75	A	G	2: 60,323,926	F1059S	probably benign	Het
Lypd6	T	A	2: 50,188,762	I90N	possibly damaging	Het
Map1a	G	A	2: 121,302,287	V1195M	probably benign	Het
Mb21d1	G	A	9: 78,443,066	R5C	probably benign	Het
Mroh2b	A	T	15: 4,948,709	I1320F	probably damaging	Het
Mug2	A	G	6: 122,081,610	T1324A	probably damaging	Het
Mylk	G	A	16: 34,899,402	V562M	possibly damaging	Het
Myo15b	G	A	11: 115,863,406	G911R		Het
Neo1	A	G	9: 58,913,166	Y825H	probably damaging	Het
Nfat5	T	G	8: 107,347,689	V343G	probably damaging	Het
Nlrp2	A	T	7: 5,327,888	I503K	possibly damaging	Het
Olfr180	A	T	16: 58,915,944	D232E	probably benign	Het
Olfr270	C	A	4: 52,970,790	H56Q	possibly damaging	Het
Olfr924	G	A	9: 38,848,917	E268K	probably benign	Het
Olfr975	G	A	9: 39,950,717	T18I	probably benign	Het
Pdcl2	T	C	5: 76,325,100	D7G	probably damaging	Het
Phyh	C	T	2: 4,919,082	R5C	probably damaging	Het
Prr11	A	C	11: 87,106,055	S28A	unknown	Het
Psmd13	T	A	7: 140,897,750	L190*	probably null	Het
Ptx4	A	G	17: 25,124,742	D322G	probably damaging	Het
Rnf40	T	C	7: 127,589,782	L109P	probably damaging	Het
Rrp1	T	C	10: 78,409,190	T102A	probably damaging	Het
Sema4a	T	G	3: 88,436,697	D749A	possibly damaging	Het
Serpina3f	A	T	12: 104,217,443	D188V	probably benign	Het
Smarca5	C	A	8: 80,716,508	A570S	probably damaging	Het
Spocd1	G	C	4: 129,930,204		probably null	Het
Stard9	G	A	2: 120,704,731	G3823D	probably benign	Het
Suco	A	G	1: 161,820,435	L1094S	probably damaging	Het
Tcf7	T	C	11: 52,260,594	D79G	probably damaging	Het
Tdrd12	A	G	7: 35,529,180	M39T	probably damaging	Het
Thnsl1	A	G	2: 21,212,398	N321S	probably benign	Het
Tmem132c	T	A	5: 127,360,153	Y235*	probably null	Het
Tnfaip6	T	C	2: 52,043,812	F60L	probably benign	Het
Tnpo3	T	C	6: 29,572,621	I411V	probably benign	Het
Trio	A	C	15: 27,851,837	V856G	possibly damaging	Het
Trpc2	C	G	7: 102,084,560	R239G	probably benign	Het
Ttn	C	T	2: 76,826,132	V12502I	unknown	Het
Usf3	A	G	16: 44,220,173	D1672G	probably damaging	Het
Usp24	A	G	4: 106,379,239	N1011S	probably benign	Het
Vac14	A	G	8: 110,719,887	E756G	probably benign	Het
Vmn2r41	A	G	7: 8,161,523	L10P	probably damaging	Het
Xrcc5	T	C	1: 72,314,178	M115T	probably damaging	Het
Zfp827	G	A	8: 79,189,834		probably benign	Het
Zmym1	A	T	4: 127,049,871	N241K	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
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
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
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'- ATGACAGGTATCCACTCATTGTG -3'
(R):5'- CAGATGCTGGTATCTAAACATGAAC -3'

Sequencing Primer
(F):5'- GTTCCAGAGAAACACTCG -3'
(R):5'- GGACACTTGCTATTCTTCAAGCAGG -3'

Posted On

2021-04-30