Mutagenetix > Incidental Mutations

Incidental Mutation 'R8777:Aff4'

664763

Institutional Source

Beutler Lab

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 #

R8777 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53350833-53421830 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 53399956 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 581 (S581N)

Ref Sequence

ENSEMBL: ENSMUSP00000051479 (fasta)

Gene Model

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

AlphaFold

Q9ESC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000060945
AA Change: S581N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000051479
Gene: ENSMUSG00000049470
AA Change: S581N

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: 99.9%
10x: 99.7%
20x: 99.0%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	T	G	5: 107,510,427	I1621R	probably damaging	Het
Abcb4	A	T	5: 8,939,894	T816S	probably benign	Het
Aimp2	G	A	5: 143,903,007	A253V	probably damaging	Het
Arl6ip4	T	G	5: 124,116,548	S35A	probably benign	Het
Atp1a4	A	T	1: 172,232,302	Y787N	probably damaging	Het
Ccdc169	T	C	3: 55,150,913	S13P	probably damaging	Het
Ccdc186	G	A	19: 56,813,361	S108F	probably damaging	Het
Ccdc39	G	A	3: 33,839,133	T101I	probably benign	Het
Cdh13	G	T	8: 119,236,967		probably null	Het
Clec1b	A	T	6: 129,403,574	E151V	probably benign	Het
Cplx1	T	A	5: 108,525,569		probably null	Het
Diablo	T	A	5: 123,517,927	I150F	unknown	Het
Esp31	T	C	17: 38,644,691	V75A	probably benign	Het
Gm49336	G	A	14: 60,228,736	L458F	probably damaging	Het
Gm6502	A	G	5: 94,317,168	D471G	probably benign	Het
Grin3b	A	T	10: 79,973,138	S241C	possibly damaging	Het
Gxylt2	A	G	6: 100,750,471	N182S	probably damaging	Het
Hephl1	T	G	9: 15,060,794	D950A	probably benign	Het
Hkdc1	A	G	10: 62,398,833	I556T	possibly damaging	Het
Ints4	C	A	7: 97,485,020	A53D	probably damaging	Het
Kmt5c	T	C	7: 4,742,713	V124A	possibly damaging	Het
Lrpprc	T	A	17: 84,751,229	Q734H	probably benign	Het
Map1b	T	C	13: 99,430,796	T1806A	unknown	Het
Mcmbp	A	T	7: 128,707,131	F389I	probably damaging	Het
Mcrs1	C	T	15: 99,243,356	G422S	probably damaging	Het
Mgam	A	G	6: 40,655,251	H173R	probably damaging	Het
Mib1	G	A	18: 10,747,422	G200S	probably benign	Het
Myh13	A	T	11: 67,361,335	Q1423L	possibly damaging	Het
Myh2	A	G	11: 67,192,572	R1454G	possibly damaging	Het
Mylk4	C	T	13: 32,729,106	V70I	probably benign	Het
Myof	A	G	19: 37,980,393	V358A	probably benign	Het
Ncor1	T	A	11: 62,433,666	I48F	probably benign	Het
Ncor1	T	A	11: 62,433,668	H47L	probably damaging	Het
Neurog2	G	T	3: 127,634,093	R122L	probably damaging	Het
Npdc1	T	A	2: 25,408,117	L193Q	probably damaging	Het
Nrxn3	A	G	12: 89,260,464	N290D	probably damaging	Het
Nynrin	T	C	14: 55,871,663	M1409T	probably benign	Het
Oas1h	T	C	5: 120,867,044	L185P	probably damaging	Het
Olfr248	A	T	1: 174,391,282	Y71F	probably damaging	Het
Olfr30	C	T	11: 58,455,931	W6*	probably null	Het
Olfr788	T	A	10: 129,473,505	V271E	possibly damaging	Het
Osbpl8	T	A	10: 111,293,113	N853K	probably benign	Het
Papd7	T	A	13: 69,510,705	D337V	probably damaging	Het
Pcsk4	G	T	10: 80,323,723	P405Q	probably benign	Het
Piwil4	A	C	9: 14,739,389		probably null	Het
Pkhd1l1	T	C	15: 44,498,571	Y547H	probably damaging	Het
Rft1	T	C	14: 30,660,199	L51P	probably damaging	Het
Rufy2	T	G	10: 62,997,881	L241V	possibly damaging	Het
Slc5a5	T	C	8: 70,891,290	I155V	possibly damaging	Het
Slc7a2	T	G	8: 40,898,954	M18R	probably damaging	Het
Snapc4	A	G	2: 26,369,363	S592P	probably benign	Het
Strn4	T	C	7: 16,816,608	W86R	probably damaging	Het
Tenm4	A	G	7: 96,896,037	N2457S	probably damaging	Het
Timd4	C	A	11: 46,815,482	T37N	possibly damaging	Het
Tmem268	T	A	4: 63,577,839	N172K	probably damaging	Het
Trrap	T	A	5: 144,837,139	V2855D	probably benign	Het
Tubb6	A	T	18: 67,401,528	T166S	probably damaging	Het
Tufm	A	G	7: 126,488,862	Y179C	probably benign	Het
Ube2r2	C	T	4: 41,190,715	S203L	possibly damaging	Het
Vldlr	G	T	19: 27,240,546	V465L	probably benign	Het
Vmn2r16	C	T	5: 109,340,365	T368M	probably benign	Het
Vmn2r42	A	G	7: 8,192,693	F485L	probably benign	Het
Zcchc6	T	C	13: 59,785,783	N1302D	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
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-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'- AGTAACTACACAGATCCAGGGG -3'
(R):5'- AGTCTCTATGATCTCCCGAGAC -3'

Sequencing Primer
(F):5'- GGACAAAAGAAACGAGCTCTGCC -3'
(R):5'- ATGATCTCCCGAGACTTCTGGG -3'

Posted On

2021-03-08