Mutagenetix > Incidental Mutations

Incidental Mutation 'R8838:Aff4'

674280

Institutional Source

Beutler Lab

Gene Symbol

Aff4

Ensembl Gene

ENSMUSG00000049470

Gene Name

AF4/FMR2 family, member 4

Synonyms

Laf4l, Alf4

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8838 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53350833-53421830 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53406638 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 896 (S896P)

Ref Sequence

ENSEMBL: ENSMUSP00000051479 (fasta)

Gene Model

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

AlphaFold

Q9ESC8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060945
AA Change: S896P

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000051479
Gene: ENSMUSG00000049470
AA Change: S896P

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

Meta Mutation Damage Score

0.0635

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (52/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	A	11: 110,030,055	I1498F	probably damaging	Het
Aco2	T	A	15: 81,911,927	N508K	probably damaging	Het
Anapc2	T	G	2: 25,273,534	V261G	probably benign	Het
Atm	A	G	9: 53,516,551	S420P	probably damaging	Het
Bag6	C	T	17: 35,144,391	R736C	probably damaging	Het
Brca2	A	G	5: 150,541,540	T1590A	possibly damaging	Het
Cacna2d3	C	T	14: 28,969,263	C35Y	probably benign	Het
Cep170b	G	A	12: 112,743,725	R1433H	probably damaging	Het
Cmtm2a	A	G	8: 104,281,404	C138R	probably damaging	Het
Cntnap5c	T	A	17: 57,891,969	V86E		Het
Cog7	A	G	7: 121,949,883	I385T	probably damaging	Het
Col28a1	A	T	6: 8,091,839		probably null	Het
Dkk3	T	C	7: 112,118,335	E309G	probably benign	Het
Dnah10	T	C	5: 124,765,550	V1411A	probably benign	Het
Enox1	G	T	14: 77,582,510	R235L	probably benign	Het
Foxn1	T	C	11: 78,361,612	N317D	possibly damaging	Het
Grip2	G	A	6: 91,785,740		probably benign	Het
Hmmr	T	C	11: 40,714,027	T406A	probably benign	Het
Hpcal1	G	A	12: 17,786,196	R9H	probably benign	Het
Iglv3	A	T	16: 19,241,382	Y65*	probably null	Het
Itgal	A	G	7: 127,311,261	Y514C	probably damaging	Het
Kcnk9	T	C	15: 72,546,170	E37G	possibly damaging	Het
Klhl40	A	G	9: 121,780,041	D424G	probably benign	Het
Lbr	A	G	1: 181,820,729	L389P	possibly damaging	Het
Ly9	A	G	1: 171,594,001	Y561H	probably damaging	Het
Mcoln3	T	C	3: 146,139,371	F441L	probably damaging	Het
Muc20	G	T	16: 32,793,459	T516K	possibly damaging	Het
Naa35	T	C	13: 59,627,961	M551T	probably benign	Het
Nkx6-2	T	A	7: 139,581,952	T170S	probably damaging	Het
Nlrp4c	T	A	7: 6,066,338	F413I		Het
Olfr1054	T	C	2: 86,332,973	K128E	possibly damaging	Het
Olfr1490	G	A	19: 13,655,007	V193M	probably damaging	Het
Olfr1496	C	A	19: 13,781,017	T133K	probably benign	Het
Olfr786	T	G	10: 129,437,196	L128R	probably damaging	Het
Pcdhga10	C	T	18: 37,748,899	T571I	possibly damaging	Het
Pla2g4a	A	T	1: 149,871,505	M310K	probably benign	Het
Plaa	T	C	4: 94,583,554	T353A	probably benign	Het
Rapgef1	T	C	2: 29,737,446	F1172S	possibly damaging	Het
Rfx2	T	C	17: 56,780,877	T505A	possibly damaging	Het
Rfx4	T	C	10: 84,840,894	V216A	probably damaging	Het
Rps6kb2	G	T	19: 4,161,184	A114D	probably damaging	Het
Sdc2	T	A	15: 33,023,751	L92*	probably null	Het
Slc18b1	A	G	10: 23,820,866	Y319C	probably benign	Het
Slc22a15	A	T	3: 101,883,533	Y219N	probably damaging	Het
Tarbp1	A	T	8: 126,450,830		probably benign	Het
Tfap2d	T	C	1: 19,104,812	L163P	possibly damaging	Het
Trank1	A	G	9: 111,364,905	I666V	probably benign	Het
Trav14-1	G	T	14: 53,554,552	A120S	probably damaging	Het
Trps1	T	A	15: 50,889,611	N20I	probably benign	Het
Txndc16	A	G	14: 45,140,571	Y682H	probably damaging	Het
Ube4a	A	T	9: 44,925,963	D991E	probably damaging	Het
Zswim4	C	T	8: 84,214,070	R800Q	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
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'- ACACTCAGTTCGTATCTTCAGTTCG -3'
(R):5'- GTCACTGGTTGTTAAAAGAGTAGC -3'

Sequencing Primer
(F):5'- AAGTACCTACCCTAAGTGCCTTG -3'
(R):5'- CATGCCTTTAATCCAGACACTG -3'

Posted On

2021-07-15