Mutagenetix > Incidental Mutations

Incidental Mutation 'R9329:Aff4'

706737

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 #

R9329 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53350833-53421830 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53397859 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 401 (T401A)

Ref Sequence

ENSEMBL: ENSMUSP00000051479 (fasta)

Gene Model

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

AlphaFold

Q9ESC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000060945
AA Change: T401A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000051479
Gene: ENSMUSG00000049470
AA Change: T401A

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000118866
Gene: ENSMUSG00000049470
AA Change: T101A

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

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	G	6: 83,156,574	M1R	probably null	Het
4932415D10Rik	G	A	10: 82,285,605	S3857L	probably benign	Het
Acap2	T	C	16: 31,127,420	D235G	probably damaging	Het
Adgrv1	C	A	13: 81,499,122	V3100F	probably damaging	Het
Apcs	T	C	1: 172,894,824	T22A	probably benign	Het
Atf7ip2	T	C	16: 10,241,874	V426A	possibly damaging	Het
Bach2	A	G	4: 32,562,175	D214G	possibly damaging	Het
Baz2a	C	T	10: 128,125,056	A1578V	possibly damaging	Het
Camk1d	T	C	2: 5,445,143	I76V	probably benign	Het
Ccdc182	A	T	11: 88,294,498	M135L	probably benign	Het
Cd47	C	T	16: 49,896,368	T201I		Het
Chodl	T	C	16: 78,949,142	S290P	possibly damaging	Het
Chst15	A	G	7: 132,266,791	L300P	possibly damaging	Het
Ciita	T	C	16: 10,506,707	S168P	probably damaging	Het
Cntn2	C	T	1: 132,528,940	V123I	probably benign	Het
Cyld	T	A	8: 88,730,720	L527Q	probably benign	Het
Dbn1	T	A	13: 55,483,428	Y34F	probably damaging	Het
Enc1	C	A	13: 97,246,510	Y509*	probably null	Het
Ermard	A	T	17: 15,053,381	E409D	probably benign	Het
Extl3	T	C	14: 65,077,316	E139G	possibly damaging	Het
Fa2h	A	T	8: 111,355,483	V177E	possibly damaging	Het
Flot2	T	C	11: 78,058,946	I367T	probably damaging	Het
Fras1	T	C	5: 96,736,954	Y2564H	probably damaging	Het
Fxyd3	A	G	7: 31,073,593	V10A	probably benign	Het
Gfra3	A	G	18: 34,704,507	L146P	probably damaging	Het
Gm49359	T	C	13: 62,454,634	N251D	probably benign	Het
Hps6	A	G	19: 46,004,103	S160G	probably benign	Het
Hsd17b7	C	A	1: 169,967,306	A55S	probably damaging	Het
Hspa12a	T	C	19: 58,800,866	D446G	probably benign	Het
Htt	G	A	5: 34,832,613	R1163Q	possibly damaging	Het
Ift81	T	C	5: 122,559,770		probably null	Het
Ighv5-15	T	G	12: 113,826,775	Y75S	probably benign	Het
Kcnd2	T	A	6: 21,725,982	H491Q	probably damaging	Het
Lamb3	C	A	1: 193,332,357	T608K	probably benign	Het
Lrtm2	T	A	6: 119,320,451	K210*	probably null	Het
Med13	G	T	11: 86,298,457	P1209T	probably benign	Het
Mtus1	G	A	8: 41,084,202	T159I	probably damaging	Het
Myt1l	A	G	12: 29,851,660	M805V	unknown	Het
Neb	G	T	2: 52,270,219	L2261I	probably benign	Het
Nlrp4c	G	A	7: 6,065,499	R133H	probably benign	Het
Nol11	A	T	11: 107,180,939	L276Q	probably damaging	Het
Nrap	A	G	19: 56,361,845	Y614H	probably damaging	Het
Olfr656	A	G	7: 104,618,498	H273R	probably damaging	Het
Pou2f3	A	G	9: 43,128,929	S355P	probably damaging	Het
Ppm1l	C	A	3: 69,553,120	N343K	probably damaging	Het
Prh1	A	T	6: 132,571,610	I27F	unknown	Het
Prkrip1	A	T	5: 136,194,349	L85Q	probably damaging	Het
Pycrl	C	T	15: 75,918,714	V99I	probably benign	Het
R3hdm4	T	A	10: 79,913,559	N72I	probably damaging	Het
Rab11fip3	G	T	17: 26,012,058	H738N	probably benign	Het
Rtl1	G	A	12: 109,590,239	A1722V	possibly damaging	Het
Sell	A	G	1: 164,065,553	N113D	probably damaging	Het
Smarcal1	T	C	1: 72,626,538	S732P	probably damaging	Het
Smurf2	A	T	11: 106,852,598	D207E	probably benign	Het
Tat	C	T	8: 109,996,878	R333C	probably benign	Het
Tmem121b	A	T	6: 120,492,273	F494L	probably damaging	Het
Tmem198	C	A	1: 75,479,878	P89Q	probably damaging	Het
Tnks2	T	G	19: 36,857,884	C2G	probably damaging	Het
Trappc9	T	C	15: 72,801,353	E869G	unknown	Het
Trim42	T	A	9: 97,369,531	K105M	probably benign	Het
Ttll3	T	C	6: 113,392,674	S60P	probably benign	Het
Ttll4	T	A	1: 74,685,962	I625N	possibly damaging	Het
Tubgcp5	T	A	7: 55,829,433		probably null	Het
Txlnb	A	T	10: 17,806,846	Y172F	probably damaging	Het
Ube2e3	A	T	2: 78,913,691	D88V	possibly damaging	Het
Vmn1r189	T	A	13: 22,102,260	I136L	probably benign	Het
Vmn2r71	A	G	7: 85,618,742	I135V	probably benign	Het
Vmn2r73	T	A	7: 85,869,865	R516S	probably benign	Het
Wrn	C	T	8: 33,240,978	E1352K	probably benign	Het
Zfp318	T	C	17: 46,411,213	S1381P	probably damaging	Het
Zfp747	A	T	7: 127,374,483	Y172N	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
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
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'- AGCATTGAACTAGGCAAACTCTG -3'
(R):5'- CCCAAAAGTCTCTGGTGTACC -3'

Sequencing Primer
(F):5'- CAGTTTCACTAAGGCCCAGGTAG -3'
(R):5'- CAAAAGTCTCTGGTGTACCATTCTG -3'

Posted On

2022-04-18