Mutagenetix > Incidental Mutation

Incidental Mutation 'R5001:Aff4'

478086

Institutional Source

Beutler Lab

Gene Symbol

Aff4

Ensembl Gene

ENSMUSG00000049470

Gene Name

AF4/FMR2 family, member 4

Synonyms

Laf4l, Alf4

MMRRC Submission

042595-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5001 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53350833-53421830 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53404357 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 795 (S795P)

Ref Sequence

ENSEMBL: ENSMUSP00000051479 (fasta)

Gene Model

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

AlphaFold

Q9ESC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000060945
AA Change: S795P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000051479
Gene: ENSMUSG00000049470
AA Change: S795P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195888

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy3	G	A	12: 4,198,434	V499M	possibly damaging	Het
Ank	G	A	15: 27,562,733	V176I	probably damaging	Het
Ankfn1	A	G	11: 89,441,442	I446T	possibly damaging	Het
Arhgap33	C	A	7: 30,533,016	S32I	possibly damaging	Het
Ascc3	T	A	10: 50,823,648	Y1856N	probably damaging	Het
Atf3	T	C	1: 191,177,275	T66A	probably benign	Het
Atf7ip	T	C	6: 136,561,388	C548R	probably damaging	Het
Bag6	A	G	17: 35,145,176	T841A	probably damaging	Het
Bbof1	A	T	12: 84,426,856	Q320L	possibly damaging	Het
Bmp2k	A	T	5: 97,053,142	Q307L	probably damaging	Het
Btaf1	T	A	19: 36,986,652	N874K	possibly damaging	Het
Calr4	G	A	4: 109,238,982		probably null	Het
Camk1d	T	C	2: 5,313,101	I248V	possibly damaging	Het
Ccdc130	G	A	8: 84,258,675	P322S	probably benign	Het
Ccdc177	G	A	12: 80,757,386	R705C	unknown	Het
Cdk18	C	T	1: 132,118,849		probably null	Het
Cers4	A	G	8: 4,515,565	S4G	probably benign	Het
Cfap54	A	G	10: 92,964,534	V1604A	probably benign	Het
Chd8	C	T	14: 52,203,915	G907S	probably benign	Het
Cnksr3	G	A	10: 7,126,746	Q149*	probably null	Het
Cntd1	T	C	11: 101,285,731	V218A	possibly damaging	Het
Cog7	A	T	7: 121,949,886	V384E	probably damaging	Het
Col5a2	A	G	1: 45,502,898	V6A	unknown	Het
Col7a1	T	C	9: 108,965,078		probably null	Het
Cpsf6	T	A	10: 117,367,961	I29L	possibly damaging	Het
Cyp3a13	T	C	5: 137,898,916	T379A	probably benign	Het
Ddx46	T	C	13: 55,652,919	S296P	probably damaging	Het
Dmbt1	A	G	7: 131,050,012	D328G	probably damaging	Het
Dnah8	T	G	17: 30,787,185	L3692W	probably damaging	Het
Dnmt3l	A	C	10: 78,059,731	S368R	probably null	Het
Egfr	A	G	11: 16,904,434	K869E	probably damaging	Het
Ehd1	G	A	19: 6,297,694	M359I	probably benign	Het
F5	A	T	1: 164,195,570	T1566S	probably benign	Het
Fam207a	A	G	10: 77,490,016	V154A	probably benign	Het
Flrt2	T	C	12: 95,778,951	I21T	probably benign	Het
Galnt1	T	A	18: 24,271,755	I383K	probably benign	Het
Ghdc	G	T	11: 100,766,834	A523D	probably damaging	Het
Gm24022	A	G	12: 113,429,779		probably benign	Het
Golga3	T	C	5: 110,205,777	S934P	probably damaging	Het
Gpr135	T	A	12: 72,070,508	T162S	probably benign	Het
Gucd1	G	A	10: 75,517,202		probably null	Het
Hcrtr2	T	A	9: 76,230,604	I410F	probably benign	Het
Ick	T	C	9: 78,131,519	S17P	probably damaging	Het
Igkv6-15	T	C	6: 70,406,649	Y56C	probably damaging	Het
Il22ra1	A	T	4: 135,733,104	Y57F	probably damaging	Het
Irak4	A	G	15: 94,558,273	E247G	possibly damaging	Het
Kank3	T	C	17: 33,821,772	V13A	possibly damaging	Het
Klhl1	A	T	14: 96,136,610	S667T	probably damaging	Het
Klhl6	T	G	16: 19,946,991	*620C	probably null	Het
Lct	A	G	1: 128,308,241	L343P	probably damaging	Het
Lgr6	G	T	1: 134,990,632	P264T	probably benign	Het
Lilrb4a	T	A	10: 51,491,420		probably null	Het
Lin7a	G	T	10: 107,382,669	G25*	probably null	Het
Lmnb2	G	A	10: 80,918,112	T36M	probably damaging	Het
Manba	T	C	3: 135,567,630	F775S	probably benign	Het
March6	A	G	15: 31,465,322	V812A	probably damaging	Het
Megf6	T	A	4: 154,268,060	L1292H	probably damaging	Het
Myo18b	T	G	5: 112,761,340	Q1979P	probably damaging	Het
Myoz1	T	C	14: 20,653,701	M59V	probably damaging	Het
Naa35	T	C	13: 59,625,531	I100T	possibly damaging	Het
Nox4	A	T	7: 87,360,803	Y404F	probably damaging	Het
Ntn1	T	C	11: 68,260,532	Y441C	probably damaging	Het
Olfr1329	C	A	4: 118,917,243	V75F	probably damaging	Het
Olfr351	T	C	2: 36,860,070	T93A	probably benign	Het
Olfr984	G	A	9: 40,101,227	H88Y	probably benign	Het
Onecut3	A	G	10: 80,495,320	T105A	unknown	Het
Pabpc1l	A	G	2: 164,042,518	S392G	probably benign	Het
Pan3	T	A	5: 147,526,682		probably null	Het
Pcdha4	G	A	18: 36,954,948	S728N	probably benign	Het
Pds5a	T	C	5: 65,696,785	D38G	probably damaging	Het
Pgm2l1	A	G	7: 100,272,376	I605V	probably benign	Het
Phip	T	C	9: 82,896,019		probably null	Het
Pilra	T	C	5: 137,835,515	I96M	probably damaging	Het
Ppig	T	A	2: 69,741,486	V183D	unknown	Het
Ppp2r2a	A	T	14: 67,022,308	L313*	probably null	Het
Ppp4c	A	G	7: 126,787,537	F126S	probably damaging	Het
Ptger2	C	A	14: 44,989,367	R135S	probably damaging	Het
Rab11fip5	T	A	6: 85,347,806	E506D	probably damaging	Het
Rdh12	G	A	12: 79,212,742	G133R	probably damaging	Het
Rims2	A	T	15: 39,452,428	D610V	probably benign	Het
Saa1	T	A	7: 46,740,708	Y122F	probably damaging	Het
Sept10	A	T	10: 59,176,989	V269E	probably damaging	Het
Serpina3n	T	A	12: 104,408,739	D23E	probably benign	Het
Serpinb11	A	G	1: 107,376,868	K188E	possibly damaging	Het
Slc18a3	C	T	14: 32,463,779	V216M	possibly damaging	Het
Slc19a3	G	T	1: 83,022,620	N225K	probably benign	Het
Slc4a1	T	A	11: 102,351,503	I797F	probably benign	Het
Spic	A	G	10: 88,675,899	M165T	possibly damaging	Het
Timm44	A	T	8: 4,275,886	M1K	probably null	Het
Tmc6	A	G	11: 117,770,784	L572P	probably benign	Het
Tnc	G	A	4: 63,984,489	T1517I	probably damaging	Het
Tnc	G	A	4: 64,000,062	T1204M	probably benign	Het
Trip11	A	T	12: 101,884,910	L680*	probably null	Het
Trps1	T	A	15: 50,661,307	M887L	possibly damaging	Het
Tulp3	A	C	6: 128,325,068	V330G	probably damaging	Het
Upf1	A	G	8: 70,334,700	S835P	probably damaging	Het
Wdr64	A	G	1: 175,792,959		probably null	Het
Zbtb40	A	G	4: 136,996,150	L643P	probably damaging	Het
Zc3h18	A	T	8: 122,383,520	D36V	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
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
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'- CAACAGATGCCTACTTGATGGG -3'
(R):5'- ATACCTTGGCCTCCTTGGAG -3'

Sequencing Primer
(F):5'- CAGATGCCTACTTGATGGGATTTAC -3'
(R):5'- AGGAGGAGCTGCTCTTGC -3'

Posted On

2017-05-23