Mutagenetix > Incidental Mutation

Incidental Mutation 'R8218:Aff4'

636498

Institutional Source

Beutler Lab

Gene Symbol

Aff4

Ensembl Gene

ENSMUSG00000049470

Gene Name

AF4/FMR2 family, member 4

Synonyms

Laf4l, Alf4

MMRRC Submission

067637-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53350833-53421830 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53398257 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 411 (H411L)

Ref Sequence

ENSEMBL: ENSMUSP00000051479 (fasta)

Gene Model

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

AlphaFold

Q9ESC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000060945
AA Change: H411L

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

SMART Domains

Protein: ENSMUSP00000051479
Gene: ENSMUSG00000049470
AA Change: H411L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000152616
AA Change: H111L

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000118866
Gene: ENSMUSG00000049470
AA Change: H111L

Domain	Start	End	E-Value	Type
Pfam:AF-4	1	51	4e-15	PFAM
Pfam:AF-4	46	159	1.3e-30	PFAM

Meta Mutation Damage Score

0.0951

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

99% (72/73)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	G	A	15: 84,955,467	H191Y	probably damaging	Het
5730480H06Rik	T	A	5: 48,379,427	L155*	probably null	Het
Ackr4	T	C	9: 104,099,211	N179S	probably benign	Het
Acp5	T	C	9: 22,129,606	Y107C	probably damaging	Het
Atp5f1	A	G	3: 105,959,186	M1T	probably null	Het
Atp8b5	G	A	4: 43,372,728		probably null	Het
C1qtnf2	A	G	11: 43,490,948	T166A	possibly damaging	Het
Dctn2	A	G	10: 127,276,529	D170G	probably damaging	Het
Dennd3	T	A	15: 73,512,773	S10T	probably benign	Het
Ehbp1	T	C	11: 22,096,096	Y551C	possibly damaging	Het
Eif4g2	A	T	7: 111,074,432	D743E	possibly damaging	Het
Esr1	G	A	10: 4,746,808		probably null	Het
Exo1	A	T	1: 175,900,914	I515L	probably benign	Het
Fam71f2	T	C	6: 29,286,073	I177T	probably damaging	Het
Fam83h	C	T	15: 76,003,037	G817D	probably damaging	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,803,148		probably null	Het
Gcn1l1	G	A	5: 115,581,529	S361N	probably benign	Het
Gm6337	C	T	14: 6,050,613		probably null	Het
Grk4	T	A	5: 34,669,196	S47T	probably benign	Het
Gstp2	C	A	19: 4,041,668	M20I	probably benign	Het
Harbi1	T	C	2: 91,712,892	F233L	probably benign	Het
Iqch	C	T	9: 63,482,633	V755I	possibly damaging	Het
Iws1	T	C	18: 32,093,635	F756L	probably benign	Het
Kcnh6	T	G	11: 106,017,374	V272G	possibly damaging	Het
Kcnj10	C	T	1: 172,368,972	R18C	probably damaging	Het
Kmt2c	A	C	5: 25,283,106	S4670A	probably damaging	Het
Krt80	T	G	15: 101,370,003	M18L	probably benign	Het
Lbx1	A	G	19: 45,234,920	V103A	probably benign	Het
March8	A	T	6: 116,338,098		probably benign	Het
Muc16	T	A	9: 18,637,019	T5993S	possibly damaging	Het
Olfr1048	C	T	2: 86,236,518	V106M	probably benign	Het
Olfr1122	C	T	2: 87,388,578	T291I	probably damaging	Het
Olfr346	A	G	2: 36,688,673	T224A	probably benign	Het
Olfr99	A	G	17: 37,279,820	V200A	probably benign	Het
Pbxip1	A	G	3: 89,445,595	I183V	probably benign	Het
Pcdh20	T	A	14: 88,468,611	I418F	probably damaging	Het
Pclo	T	C	5: 14,675,663	F1512L	unknown	Het
Phf2	G	T	13: 48,804,628	T970K	unknown	Het
Pidd1	A	G	7: 141,439,653	V698A	probably damaging	Het
Pik3ca	T	A	3: 32,437,847	V198D	possibly damaging	Het
Pip5k1c	T	A	10: 81,306,416	D153E	probably damaging	Het
Ppfia2	A	G	10: 106,863,375	D795G	probably benign	Het
Pramef8	A	T	4: 143,419,136	I392F	probably benign	Het
Prkar2a	C	A	9: 108,719,249	A131D	possibly damaging	Het
Pter	A	G	2: 12,980,555	D232G	probably damaging	Het
Qser1	C	T	2: 104,762,923	R1583Q	probably damaging	Het
Rasal2	A	C	1: 157,157,381	V932G	probably damaging	Het
Rasgrf2	G	A	13: 91,982,677	A154V		Het
Rbm4	A	G	19: 4,787,416	Y347H	probably damaging	Het
Rfxank	C	A	8: 70,131,435		probably null	Het
Robo1	C	G	16: 72,989,790	R897G	possibly damaging	Het
Sash1	G	A	10: 8,751,236	T364I	probably damaging	Het
Skint6	T	A	4: 112,839,274		probably null	Het
Slc22a4	T	A	11: 53,986,581	M495L	probably benign	Het
Slc39a8	G	A	3: 135,857,564	V212I	probably benign	Het
Slc40a1	A	C	1: 45,910,969	V441G	probably benign	Het
Slc7a11	A	T	3: 50,424,052	Y246N	probably damaging	Het
Spata9	T	C	13: 75,977,773	V125A	probably benign	Het
Svopl	T	A	6: 38,014,806	M380L	probably benign	Het
Sycp2l	T	C	13: 41,118,068	Y23H	probably damaging	Het
Syt11	A	T	3: 88,762,120	V155E	probably benign	Het
Syt5	T	C	7: 4,542,823	Y147C	probably damaging	Het
Thg1l	T	C	11: 45,955,450	T6A	probably benign	Het
Tlr2	A	G	3: 83,838,239	L179P	probably damaging	Het
Tsn	A	T	1: 118,305,254	Y107N	probably damaging	Het
Tspan32	A	T	7: 143,011,095	Y114F	probably benign	Het
Tube1	A	C	10: 39,147,379	S341R	possibly damaging	Het
Ubn2	T	A	6: 38,489,279	V516D	probably benign	Het
Vmn1r21	G	T	6: 57,843,925	T178K	noncoding transcript	Het
Vmn2r108	A	G	17: 20,463,203	Y580H	probably damaging	Het
Wdr75	T	A	1: 45,818,182	F546L	probably damaging	Het
Yy1	A	G	12: 108,793,693	D94G	probably benign	Het
Zfhx3	A	G	8: 108,950,717	T2800A	probably benign	Het
Zfy2	T	C	Y: 2,133,421	T9A	unknown	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
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
R9378:Aff4	UTSW	11	53372479	missense	probably damaging	0.98
R9471:Aff4	UTSW	11	53380646	missense	probably benign	0.13
R9779:Aff4	UTSW	11	53372907	nonsense	probably null
R9796:Aff4	UTSW	11	53411997	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACATTGTGGTGGTATCATTAGCAG -3'
(R):5'- GATGACATCCACGGCTGAAG -3'

Sequencing Primer
(F):5'- AGCAGCCTTATAAATAATGTCAGTTG -3'
(R):5'- CGGCTGTCAGGAGAGCTTGAG -3'

Posted On

2020-07-13