Mutagenetix > Incidental Mutation

Incidental Mutation 'R0345:Aff4'

38399

Institutional Source

Beutler Lab

Gene Symbol

Aff4

Ensembl Gene

ENSMUSG00000049470

Gene Name

AF4/FMR2 family, member 4

Synonyms

Laf4l, Alf4

MMRRC Submission

038552-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0345 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

53350833-53421830 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53372881 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 243 (S243T)

Ref Sequence

ENSEMBL: ENSMUSP00000051479 (fasta)

Gene Model

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

AlphaFold

Q9ESC8

Predicted Effect

probably benign
Transcript: ENSMUST00000060945
AA Change: S243T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000051479
Gene: ENSMUSG00000049470
AA Change: S243T

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: ENSMUST00000136470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139054

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 benign
Transcript: ENSMUST00000153821

SMART Domains

Protein: ENSMUSP00000120613
Gene: ENSMUSG00000049470

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

Meta Mutation Damage Score

0.1011

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.1%

Validation Efficiency

100% (58/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	T	C	14: 59,139,630	N105D	possibly damaging	Het
A2m	T	C	6: 121,638,272		probably benign	Het
Adgrb1	A	G	15: 74,543,349	N641S	probably damaging	Het
Agap2	A	G	10: 127,087,895	H713R	unknown	Het
Ap2a2	T	A	7: 141,631,293	M914K	probably damaging	Het
Bcl7c	A	T	7: 127,708,463	M22K	possibly damaging	Het
Cacna1i	A	T	15: 80,372,462	D1019V	probably damaging	Het
Cd7	T	C	11: 121,038,186	T80A	probably benign	Het
Chia1	T	C	3: 106,122,439	Y130H	probably damaging	Het
Chmp6	T	C	11: 119,918,046		probably benign	Het
Chrnb4	A	G	9: 55,035,594	V132A	probably benign	Het
Ctnna3	A	G	10: 63,566,840	D110G	probably benign	Het
Cyp2d37-ps	A	T	15: 82,689,774		noncoding transcript	Het
Dnah6	T	C	6: 73,021,257	M4061V	probably benign	Het
Dydc2	C	A	14: 41,061,946	M73I	probably benign	Het
Egflam	G	T	15: 7,289,994		probably null	Het
Fam205a1	T	C	4: 42,851,116	I347V	probably benign	Het
Fam228b	C	T	12: 4,748,351	V151I	possibly damaging	Het
Fam46b	A	T	4: 133,486,211	Q131L	probably benign	Het
Fanca	C	T	8: 123,304,813	V380I	probably damaging	Het
Gbp2b	T	C	3: 142,608,183	L408S	probably damaging	Het
Kcnh4	T	C	11: 100,757,681	S66G	probably benign	Het
Kcnq3	A	T	15: 66,020,305	V407D	possibly damaging	Het
Kif24	A	T	4: 41,428,413	D182E	probably benign	Het
Llgl2	A	G	11: 115,849,992		probably benign	Het
Lmo7	T	A	14: 101,876,877	N140K	probably damaging	Het
Myo5c	A	G	9: 75,297,419	E1518G	probably damaging	Het
Myof	A	T	19: 38,024,345	N47K	probably damaging	Het
Nckap1	G	T	2: 80,544,977		probably benign	Het
Nlrp1a	C	A	11: 71,123,675	G250W	probably damaging	Het
Nol4l	T	A	2: 153,411,752	S390C	probably benign	Het
Olfr196	G	A	16: 59,167,906	P79L	possibly damaging	Het
Olfr670	T	A	7: 104,960,181	M184L	probably damaging	Het
Olfr701	T	C	7: 106,818,701	F206S	probably benign	Het
Olfr992	T	C	2: 85,400,341	Q64R	possibly damaging	Het
Plec	G	T	15: 76,177,167	P2886T	probably damaging	Het
Prdm16	T	C	4: 154,341,111	Y738C	probably benign	Het
Ptprz1	A	G	6: 23,016,165	Y820C	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Sgce	G	A	6: 4,718,019	P98S	probably damaging	Het
Siglecf	T	C	7: 43,351,944	F112S	probably damaging	Het
Slc6a16	C	T	7: 45,259,248	A84V	possibly damaging	Het
Sntb2	T	C	8: 107,001,538	S373P	probably damaging	Het
Sorcs2	C	T	5: 36,027,874	V953I	probably benign	Het
St7l	T	C	3: 104,895,809		probably benign	Het
Stap2	A	G	17: 56,000,097	V217A	probably damaging	Het
Stxbp5l	A	T	16: 37,288,308	D215E	probably damaging	Het
Synm	C	T	7: 67,735,821	V256I	probably benign	Het
Syt13	A	C	2: 92,946,067	E233A	possibly damaging	Het
Tecta	T	A	9: 42,384,218	E327V	probably damaging	Het
Themis3	A	T	17: 66,559,545		probably null	Het
Ttll13	T	A	7: 80,247,336	D14E	probably benign	Het
Tubb2a	A	C	13: 34,076,637	D26E	probably benign	Het
Ubr1	T	C	2: 120,904,103		probably null	Het
Vps13d	A	T	4: 145,117,625	V2537E	possibly damaging	Het
Zscan10	T	A	17: 23,610,082	F456I	probably damaging	Het
Zyg11b	A	G	4: 108,266,407	I121T	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
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
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'- TCAGTCTCAGAAACGCTCCTCTGC -3'
(R):5'- AGGTCGGGAAGGAATTTTCAGCTTG -3'

Sequencing Primer
(F):5'- GTGACTCCTACAGCAGTAGCAG -3'
(R):5'- AAGGAATTTTCAGCTTGGTGAG -3'

Posted On

2013-05-23