Mutagenetix > Incidental Mutations

Incidental Mutation 'R9378:Aff4'

709798

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 #

R9378 (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 T at 53372479 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 109 (T109S)

Ref Sequence

ENSEMBL: ENSMUSP00000051479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060945] [ENSMUST00000153821]

AlphaFold

Q9ESC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000060945
AA Change: T109S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000051479
Gene: ENSMUSG00000049470
AA Change: T109S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000153821
AA Change: T109S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120613
Gene: ENSMUSG00000049470
AA Change: T109S

Domain	Start	End	E-Value	Type
Pfam:AF-4	2	122	4.1e-60	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007K13Rik	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,466,110		probably benign	Het
2210408I21Rik	A	G	13: 77,323,616	K1047E	possibly damaging	Het
Abca14	A	T	7: 120,207,968	Y79F	possibly damaging	Het
Abca2	T	A	2: 25,439,082	M978K	probably benign	Het
Adamts3	A	T	5: 89,700,410	C684*	probably null	Het
Adnp2	T	C	18: 80,129,422	T591A	probably benign	Het
Agmo	A	G	12: 37,243,721	I48V	probably benign	Het
Appl1	G	A	14: 26,927,827	R581*	probably null	Het
Armc9	A	T	1: 86,262,044	M714L	probably benign	Het
Atp6v0d2	T	A	4: 19,922,377	T41S	probably benign	Het
Bin1	A	T	18: 32,419,868	Q182L	probably damaging	Het
Bmp10	A	G	6: 87,433,702	D159G	probably benign	Het
Bsn	G	A	9: 108,107,655	P295S	possibly damaging	Het
C130079G13Rik	A	G	3: 59,931,689	T11A	possibly damaging	Het
Cbx6	A	G	15: 79,828,405	S274P	probably damaging	Het
Cdc20b	A	G	13: 113,056,097	K108R	probably benign	Het
Ces1d	T	A	8: 93,186,096	N238I	probably damaging	Het
Col7a1	C	T	9: 108,958,640	Q663*	probably null	Het
Cpsf3	T	C	12: 21,308,038	I517T	possibly damaging	Het
Cyp2a5	C	A	7: 26,840,454	T309N	probably damaging	Het
Cyp2d40	A	G	15: 82,761,601	F68L	possibly damaging	Het
Cyp7b1	A	T	3: 18,096,673	W301R	probably damaging	Het
Dnah6	T	A	6: 73,212,530	N45I	probably benign	Het
Dnah7a	A	T	1: 53,582,617	H1116Q	probably benign	Het
Dntt	A	G	19: 41,038,917	N141S	probably benign	Het
Fbxl13	T	C	5: 21,585,203	N281D	probably damaging	Het
Frem2	A	T	3: 53,651,989	L1699H	probably damaging	Het
Gabrr3	T	C	16: 59,461,674	V464A	possibly damaging	Het
Gdap1	T	A	1: 17,157,129	I160N	probably damaging	Het
Hnrnpll	C	A	17: 80,061,862	R44L	unknown	Het
Hsp90ab1	T	C	17: 45,570,754	E187G	probably damaging	Het
Ighm	T	A	12: 113,422,590	T47S		Het
Itgb7	A	C	15: 102,227,396		probably null	Het
Kif16b	A	T	2: 142,619,818	C1293*	probably null	Het
Klf11	C	T	12: 24,655,044	R166C	probably benign	Het
Lca5l	T	A	16: 96,176,012	Q198L	probably damaging	Het
Lnx2	A	T	5: 147,024,370	M584K	probably benign	Het
Lpp	A	T	16: 24,721,987	M1L	probably benign	Het
Lrig3	A	G	10: 125,997,084	T276A	probably damaging	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Megf8	A	T	7: 25,340,415		probably null	Het
Myh1	A	C	11: 67,202,433	T117P	probably damaging	Het
Neb	C	A	2: 52,244,101	R3290L	possibly damaging	Het
Neb	A	C	2: 52,247,292	V220G		Het
Nktr	A	T	9: 121,748,198	K444I	probably damaging	Het
Nol11	A	T	11: 107,173,679	M483K	probably benign	Het
Npy1r	C	A	8: 66,704,209	P94T	probably damaging	Het
Nsmaf	T	C	4: 6,440,940	T37A	probably benign	Het
Olfr1137	C	A	2: 87,711,079	V276F	possibly damaging	Het
Olfr1224-ps1	T	C	2: 89,157,055	N40S	probably damaging	Het
Olfr131	G	A	17: 38,082,165	A271V	possibly damaging	Het
Olfr160	A	G	9: 37,712,177	I34T	probably damaging	Het
Olfr286	A	G	15: 98,227,039	L204P	possibly damaging	Het
Olfr624	A	T	7: 103,670,182	M283K	probably damaging	Het
Olfr884	G	A	9: 38,047,479	V86M	possibly damaging	Het
Palld	C	T	8: 61,516,657	R1211H	unknown	Het
Pcdha3	A	G	18: 36,947,231	D342G	probably damaging	Het
Pclo	G	A	5: 14,765,863	V1266I		Het
Pcnx4	T	C	12: 72,555,890	Y309H	probably damaging	Het
Pde8a	C	T	7: 81,332,871	T746I	probably damaging	Het
Pdzrn3	T	G	6: 101,150,811	K965Q	probably damaging	Het
Phldb1	G	A	9: 44,704,128	A225V	probably benign	Het
Plat	A	G	8: 22,775,583	Y214C	probably damaging	Het
Plppr1	T	A	4: 49,325,627	C274*	probably null	Het
Poglut1	A	G	16: 38,526,771	F345L	possibly damaging	Het
Ppara	A	T	15: 85,777,636	E26V	possibly damaging	Het
Ppcdc	A	T	9: 57,420,288	W79R	probably damaging	Het
Prdm1	C	T	10: 44,440,154	C662Y	probably damaging	Het
Sgms2	G	A	3: 131,342,362		probably benign	Het
Slc31a1	T	A	4: 62,388,606	M133K	probably damaging	Het
Smg1	G	A	7: 118,178,775	Q1309*	probably null	Het
Sos1	T	C	17: 80,453,810	I152M	probably damaging	Het
Stk4	A	T	2: 164,110,216		probably benign	Het
Syne1	T	G	10: 5,250,954	N3538T	probably damaging	Het
Tbc1d16	A	G	11: 119,208,840	F236S	probably damaging	Het
Tgs1	T	A	4: 3,595,475	M548K	probably benign	Het
Twf1	G	A	15: 94,585,455	T124I	probably damaging	Het
Tyro3	G	A	2: 119,812,167	G611R	probably damaging	Het
Unc13b	T	A	4: 43,173,282	I1370K	unknown	Het
Usp40	A	G	1: 87,957,310	W939R	probably damaging	Het
Vamp8	A	T	6: 72,385,571	V82E	probably damaging	Het
Vmn2r17	A	G	5: 109,427,866	H201R	possibly damaging	Het
Whrn	T	C	4: 63,431,842	H546R	probably benign	Het
Yeats2	T	C	16: 20,214,478	V1036A	probably benign	Het
Zfp352	T	G	4: 90,224,338	N238K	probably benign	Het
Zfp36l3	TCCAGGGGCGAGGGCAGCCCCAGGAGCAAGGGCCGCCCTAGGAATGAGGGCCGCCCCAGG	TCCAGG	X: 53,774,554		probably benign	Het
Zfp462	T	A	4: 55,011,510	S1159T	probably benign	Het
Zscan4-ps1	A	T	7: 11,066,265	H232Q	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: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
R9471:Aff4	UTSW	11	53380646	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- CGGATTCAGAGCATGCTTGG -3'
(R):5'- AAGAAACAGCCTGGGGTTTTC -3'

Sequencing Primer
(F):5'- TTCAGAGCATGCTTGGAAACTACG -3'
(R):5'- TCCAGGGCTTGAGGATCGAG -3'

Posted On

2022-04-18