Mutagenetix > Incidental Mutation

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

MMRRC Submission

Accession Numbers

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 (GRCm38)		probably benign	Het
2210408I21Rik	A	G	13: 77,323,616 (GRCm38)	K1047E	possibly damaging	Het
Abca14	A	T	7: 120,207,968 (GRCm38)	Y79F	possibly damaging	Het
Abca2	T	A	2: 25,439,082 (GRCm38)	M978K	probably benign	Het
Adamts3	A	T	5: 89,700,410 (GRCm38)	C684*	probably null	Het
Adnp2	T	C	18: 80,129,422 (GRCm38)	T591A	probably benign	Het
Agmo	A	G	12: 37,243,721 (GRCm38)	I48V	probably benign	Het
Appl1	G	A	14: 26,927,827 (GRCm38)	R581*	probably null	Het
Armc9	A	T	1: 86,262,044 (GRCm38)	M714L	probably benign	Het
Atp6v0d2	T	A	4: 19,922,377 (GRCm38)	T41S	probably benign	Het
Bin1	A	T	18: 32,419,868 (GRCm38)	Q182L	probably damaging	Het
Bmp10	A	G	6: 87,433,702 (GRCm38)	D159G	probably benign	Het
Bsn	G	A	9: 108,107,655 (GRCm38)	P295S	possibly damaging	Het
C130079G13Rik	A	G	3: 59,931,689 (GRCm38)	T11A	possibly damaging	Het
Cbx6	A	G	15: 79,828,405 (GRCm38)	S274P	probably damaging	Het
Cdc20b	A	G	13: 113,056,097 (GRCm38)	K108R	probably benign	Het
Ces1d	T	A	8: 93,186,096 (GRCm38)	N238I	probably damaging	Het
Col7a1	C	T	9: 108,958,640 (GRCm38)	Q663*	probably null	Het
Cpsf3	T	C	12: 21,308,038 (GRCm38)	I517T	possibly damaging	Het
Cyp2a5	C	A	7: 26,840,454 (GRCm38)	T309N	probably damaging	Het
Cyp2d40	A	G	15: 82,761,601 (GRCm38)	F68L	possibly damaging	Het
Cyp7b1	A	T	3: 18,096,673 (GRCm38)	W301R	probably damaging	Het
Dnah6	T	A	6: 73,212,530 (GRCm38)	N45I	probably benign	Het
Dnah7a	A	T	1: 53,582,617 (GRCm38)	H1116Q	probably benign	Het
Dntt	A	G	19: 41,038,917 (GRCm38)	N141S	probably benign	Het
Fbxl13	T	C	5: 21,585,203 (GRCm38)	N281D	probably damaging	Het
Frem2	A	T	3: 53,651,989 (GRCm38)	L1699H	probably damaging	Het
Gabrr3	T	C	16: 59,461,674 (GRCm38)	V464A	possibly damaging	Het
Gdap1	T	A	1: 17,157,129 (GRCm38)	I160N	probably damaging	Het
Hnrnpll	C	A	17: 80,061,862 (GRCm38)	R44L	unknown	Het
Hsp90ab1	T	C	17: 45,570,754 (GRCm38)	E187G	probably damaging	Het
Ighm	T	A	12: 113,422,590 (GRCm38)	T47S		Het
Itgb7	A	C	15: 102,227,396 (GRCm38)		probably null	Het
Kif16b	A	T	2: 142,619,818 (GRCm38)	C1293*	probably null	Het
Klf11	C	T	12: 24,655,044 (GRCm38)	R166C	probably benign	Het
Lca5l	T	A	16: 96,176,012 (GRCm38)	Q198L	probably damaging	Het
Lnx2	A	T	5: 147,024,370 (GRCm38)	M584K	probably benign	Het
Lpp	A	T	16: 24,721,987 (GRCm38)	M1L	probably benign	Het
Lrig3	A	G	10: 125,997,084 (GRCm38)	T276A	probably damaging	Het
Ltbp2	G	A	12: 84,791,090 (GRCm38)	P1192L	probably benign	Het
Megf8	A	T	7: 25,340,415 (GRCm38)		probably null	Het
Myh1	A	C	11: 67,202,433 (GRCm38)	T117P	probably damaging	Het
Neb	A	C	2: 52,247,292 (GRCm38)	V220G		Het
Neb	C	A	2: 52,244,101 (GRCm38)	R3290L	possibly damaging	Het
Nktr	A	T	9: 121,748,198 (GRCm38)	K444I	probably damaging	Het
Nol11	A	T	11: 107,173,679 (GRCm38)	M483K	probably benign	Het
Npy1r	C	A	8: 66,704,209 (GRCm38)	P94T	probably damaging	Het
Nsmaf	T	C	4: 6,440,940 (GRCm38)	T37A	probably benign	Het
Olfr1137	C	A	2: 87,711,079 (GRCm38)	V276F	possibly damaging	Het
Olfr1224-ps1	T	C	2: 89,157,055 (GRCm38)	N40S	probably damaging	Het
Olfr131	G	A	17: 38,082,165 (GRCm38)	A271V	possibly damaging	Het
Olfr160	A	G	9: 37,712,177 (GRCm38)	I34T	probably damaging	Het
Olfr286	A	G	15: 98,227,039 (GRCm38)	L204P	possibly damaging	Het
Olfr624	A	T	7: 103,670,182 (GRCm38)	M283K	probably damaging	Het
Olfr884	G	A	9: 38,047,479 (GRCm38)	V86M	possibly damaging	Het
Palld	C	T	8: 61,516,657 (GRCm38)	R1211H	unknown	Het
Pcdha3	A	G	18: 36,947,231 (GRCm38)	D342G	probably damaging	Het
Pclo	G	A	5: 14,765,863 (GRCm38)	V1266I		Het
Pcnx4	T	C	12: 72,555,890 (GRCm38)	Y309H	probably damaging	Het
Pde8a	C	T	7: 81,332,871 (GRCm38)	T746I	probably damaging	Het
Pdzrn3	T	G	6: 101,150,811 (GRCm38)	K965Q	probably damaging	Het
Phldb1	G	A	9: 44,704,128 (GRCm38)	A225V	probably benign	Het
Plat	A	G	8: 22,775,583 (GRCm38)	Y214C	probably damaging	Het
Plppr1	T	A	4: 49,325,627 (GRCm38)	C274*	probably null	Het
Poglut1	A	G	16: 38,526,771 (GRCm38)	F345L	possibly damaging	Het
Ppara	A	T	15: 85,777,636 (GRCm38)	E26V	possibly damaging	Het
Ppcdc	A	T	9: 57,420,288 (GRCm38)	W79R	probably damaging	Het
Prdm1	C	T	10: 44,440,154 (GRCm38)	C662Y	probably damaging	Het
Sgms2	G	A	3: 131,342,362 (GRCm38)		probably benign	Het
Slc31a1	T	A	4: 62,388,606 (GRCm38)	M133K	probably damaging	Het
Smg1	G	A	7: 118,178,775 (GRCm38)	Q1309*	probably null	Het
Sos1	T	C	17: 80,453,810 (GRCm38)	I152M	probably damaging	Het
Stk4	A	T	2: 164,110,216 (GRCm38)		probably benign	Het
Syne1	T	G	10: 5,250,954 (GRCm38)	N3538T	probably damaging	Het
Tbc1d16	A	G	11: 119,208,840 (GRCm38)	F236S	probably damaging	Het
Tgs1	T	A	4: 3,595,475 (GRCm38)	M548K	probably benign	Het
Twf1	G	A	15: 94,585,455 (GRCm38)	T124I	probably damaging	Het
Tyro3	G	A	2: 119,812,167 (GRCm38)	G611R	probably damaging	Het
Unc13b	T	A	4: 43,173,282 (GRCm38)	I1370K	unknown	Het
Usp40	A	G	1: 87,957,310 (GRCm38)	W939R	probably damaging	Het
Vamp8	A	T	6: 72,385,571 (GRCm38)	V82E	probably damaging	Het
Vmn2r17	A	G	5: 109,427,866 (GRCm38)	H201R	possibly damaging	Het
Whrn	T	C	4: 63,431,842 (GRCm38)	H546R	probably benign	Het
Yeats2	T	C	16: 20,214,478 (GRCm38)	V1036A	probably benign	Het
Zfp352	T	G	4: 90,224,338 (GRCm38)	N238K	probably benign	Het
Zfp36l3	TCCAGGGGCGAGGGCAGCCCCAGGAGCAAGGGCCGCCCTAGGAATGAGGGCCGCCCCAGG	TCCAGG	X: 53,774,554 (GRCm38)		probably benign	Het
Zfp462	T	A	4: 55,011,510 (GRCm38)	S1159T	probably benign	Het
Zscan4-ps1	A	T	7: 11,066,265 (GRCm38)	H232Q	probably benign	Het

Other mutations in Aff4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00793:Aff4	APN	11	53,411,990 (GRCm38)	missense	probably damaging	0.98
IGL01348:Aff4	APN	11	53,402,500 (GRCm38)	missense	probably benign
IGL01446:Aff4	APN	11	53,415,469 (GRCm38)	missense	probably damaging	0.99
IGL02151:Aff4	APN	11	53,399,806 (GRCm38)	missense	probably benign
IGL02526:Aff4	APN	11	53,406,682 (GRCm38)	splice site	probably benign
IGL02567:Aff4	APN	11	53,372,751 (GRCm38)	missense	possibly damaging	0.64
IGL02633:Aff4	APN	11	53,409,371 (GRCm38)	splice site	probably benign
IGL02707:Aff4	APN	11	53,399,740 (GRCm38)	missense	probably benign
R0090:Aff4	UTSW	11	53,392,782 (GRCm38)	missense	probably benign	0.01
R0128:Aff4	UTSW	11	53,415,466 (GRCm38)	missense	probably damaging	0.99
R0243:Aff4	UTSW	11	53,397,858 (GRCm38)	missense	possibly damaging	0.74
R0345:Aff4	UTSW	11	53,372,881 (GRCm38)	missense	probably benign	0.00
R0347:Aff4	UTSW	11	53,400,088 (GRCm38)	missense	probably benign	0.01
R0732:Aff4	UTSW	11	53,375,596 (GRCm38)	missense	probably benign
R0737:Aff4	UTSW	11	53,410,953 (GRCm38)	nonsense	probably null
R1464:Aff4	UTSW	11	53,372,524 (GRCm38)	missense	probably damaging	0.97
R1464:Aff4	UTSW	11	53,372,524 (GRCm38)	missense	probably damaging	0.97
R1500:Aff4	UTSW	11	53,372,378 (GRCm38)	missense	probably benign	0.00
R1693:Aff4	UTSW	11	53,396,553 (GRCm38)	missense	probably damaging	1.00
R1743:Aff4	UTSW	11	53,368,695 (GRCm38)	missense	possibly damaging	0.65
R1961:Aff4	UTSW	11	53,372,999 (GRCm38)	missense	probably damaging	1.00
R2048:Aff4	UTSW	11	53,398,385 (GRCm38)	missense	probably benign	0.39
R2138:Aff4	UTSW	11	53,372,512 (GRCm38)	missense	possibly damaging	0.94
R2155:Aff4	UTSW	11	53,399,619 (GRCm38)	missense	probably damaging	1.00
R2379:Aff4	UTSW	11	53,408,478 (GRCm38)	splice site	probably benign
R4156:Aff4	UTSW	11	53,410,899 (GRCm38)	intron	probably benign
R5001:Aff4	UTSW	11	53,404,357 (GRCm38)	missense	probably damaging	1.00
R5281:Aff4	UTSW	11	53,372,288 (GRCm38)	missense	probably damaging	1.00
R5477:Aff4	UTSW	11	53,408,472 (GRCm38)	critical splice donor site	probably null
R5677:Aff4	UTSW	11	53,400,275 (GRCm38)	missense	possibly damaging	0.55
R5992:Aff4	UTSW	11	53,373,010 (GRCm38)	missense	probably damaging	0.99
R6576:Aff4	UTSW	11	53,400,441 (GRCm38)	missense	probably damaging	1.00
R6764:Aff4	UTSW	11	53,399,830 (GRCm38)	missense	probably damaging	1.00
R6988:Aff4	UTSW	11	53,398,237 (GRCm38)	missense	probably damaging	1.00
R7034:Aff4	UTSW	11	53,408,409 (GRCm38)	missense	probably damaging	0.99
R7177:Aff4	UTSW	11	53,406,639 (GRCm38)	missense	probably benign	0.10
R7426:Aff4	UTSW	11	53,372,875 (GRCm38)	missense	probably damaging	1.00
R7755:Aff4	UTSW	11	53,398,379 (GRCm38)	missense	probably damaging	0.97
R7848:Aff4	UTSW	11	53,404,512 (GRCm38)	missense	probably benign	0.05
R7968:Aff4	UTSW	11	53,409,348 (GRCm38)	missense	probably damaging	1.00
R8159:Aff4	UTSW	11	53,411,894 (GRCm38)	missense	possibly damaging	0.71
R8218:Aff4	UTSW	11	53,398,257 (GRCm38)	missense	probably damaging	0.98
R8241:Aff4	UTSW	11	53,400,171 (GRCm38)	missense	probably benign	0.00
R8284:Aff4	UTSW	11	53,404,552 (GRCm38)	missense	probably damaging	0.99
R8373:Aff4	UTSW	11	53,400,267 (GRCm38)	nonsense	probably null
R8695:Aff4	UTSW	11	53,368,682 (GRCm38)	missense	probably damaging	1.00
R8777:Aff4	UTSW	11	53,399,956 (GRCm38)	missense	probably damaging	1.00
R8777-TAIL:Aff4	UTSW	11	53,399,956 (GRCm38)	missense	probably damaging	1.00
R8780:Aff4	UTSW	11	53,380,617 (GRCm38)	missense	probably damaging	1.00
R8798:Aff4	UTSW	11	53,400,508 (GRCm38)	critical splice donor site	probably benign
R8838:Aff4	UTSW	11	53,406,638 (GRCm38)	missense	possibly damaging	0.77
R8939:Aff4	UTSW	11	53,372,404 (GRCm38)	missense	probably benign
R9146:Aff4	UTSW	11	53,408,136 (GRCm38)	missense	probably benign	0.06
R9329:Aff4	UTSW	11	53,397,859 (GRCm38)	missense	probably damaging	1.00
R9471:Aff4	UTSW	11	53,380,646 (GRCm38)	missense	probably benign	0.13
R9779:Aff4	UTSW	11	53,372,907 (GRCm38)	nonsense	probably null
R9796:Aff4	UTSW	11	53,411,997 (GRCm38)	missense	probably damaging	0.98

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