Mutagenetix > Incidental Mutation

Incidental Mutation 'R7426:Aff4'

576108

Institutional Source

Beutler Lab

Gene Symbol

Aff4

Ensembl Gene

ENSMUSG00000049470

Gene Name

AF4/FMR2 family, member 4

Synonyms

Laf4l, Alf4

MMRRC Submission

045504-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7426 (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 53372875 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 241 (S241P)

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: S241P

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

SMART Domains

Protein: ENSMUSP00000051479
Gene: ENSMUSG00000049470
AA Change: S241P

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 benign
Transcript: ENSMUST00000153821

SMART Domains

Protein: ENSMUSP00000120613
Gene: ENSMUSG00000049470

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: 99.7%
20x: 99.0%

Validation Efficiency

97% (114/118)

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	A	7: 120,345,998	N432K	possibly damaging	Het
Adamtsl5	G	A	10: 80,344,859	T123I	probably benign	Het
Agl	A	G	3: 116,758,755	L510P		Het
Aox2	A	T	1: 58,289,983	K196*	probably null	Het
Arhgef37	A	G	18: 61,504,385	L402P	probably damaging	Het
Arid4b	T	C	13: 14,181,306		probably null	Het
Atp5f1	A	G	3: 105,943,802	V193A	probably benign	Het
Atp8b3	A	G	10: 80,529,629		probably null	Het
Baz2a	G	T	10: 128,116,078	R555L	probably damaging	Het
Casp4	G	T	9: 5,321,345	S32I	possibly damaging	Het
Cd300lb	A	G	11: 114,928,302	V167A	probably damaging	Het
Cdc42bpg	C	T	19: 6,318,398	T1042I	probably damaging	Het
Ceacam20	T	C	7: 19,970,234	F70S	probably damaging	Het
Cep162	C	T	9: 87,192,766	V1388I	probably damaging	Het
Cfap65	A	G	1: 74,920,426	V855A	possibly damaging	Het
Chil3	G	T	3: 106,155,706	D189E	probably benign	Het
Cln3	A	G	7: 126,581,740	I43T	probably benign	Het
Cntnap5a	A	G	1: 116,442,380	Q909R	probably benign	Het
Ctsd	C	A	7: 142,383,541	A77S	probably damaging	Het
Dnah12	T	A	14: 26,724,626	S781T	probably benign	Het
Dnah17	T	A	11: 118,090,717	Q1716L	probably null	Het
Dock3	C	A	9: 106,895,583	M490I	probably benign	Het
Erg	T	C	16: 95,459,156		probably null	Het
Fam206a	A	G	4: 56,804,230	I82V	probably null	Het
Farp2	A	T	1: 93,621,228	M1019L	possibly damaging	Het
Fcgbp	A	G	7: 28,086,524	K462R	probably benign	Het
Fn1	A	T	1: 71,649,225	N173K	probably damaging	Het
Fsip2	A	T	2: 82,980,097	L2253F	probably damaging	Het
Gabrd	C	T	4: 155,385,513	R413H	possibly damaging	Het
Galnt5	A	T	2: 58,017,139	D538V	probably damaging	Het
Gje1	T	A	10: 14,716,479	L186F	probably damaging	Het
Gm16686	A	T	4: 88,755,326	C89S	unknown	Het
Gna15	G	T	10: 81,502,997	A336E	probably benign	Het
Golga4	C	T	9: 118,559,495	S1895L	probably benign	Het
Gon4l	A	T	3: 88,907,522	M1933L	probably benign	Het
Gpr183	T	C	14: 121,954,744	S122G	possibly damaging	Het
Gtf2h4	G	A	17: 35,669,358	T348I	probably damaging	Het
Hace1	T	C	10: 45,605,540	Y120H	probably damaging	Het
Hivep2	C	T	10: 14,131,317	H1220Y	possibly damaging	Het
Hmx2	T	C	7: 131,554,503	F66S	probably benign	Het
Hoxd12	A	T	2: 74,675,225	S47C	possibly damaging	Het
Hp	C	A	8: 109,575,200		probably null	Het
Idh3a	T	A	9: 54,601,208	D355E	probably benign	Het
Itga2b	A	T	11: 102,456,294	M921K	probably benign	Het
Jcad	A	G	18: 4,675,529	D1097G	probably benign	Het
Kdm5b	A	T	1: 134,595,833	T249S	probably benign	Het
Klhl11	G	T	11: 100,464,352	H214Q	probably benign	Het
L3hypdh	A	T	12: 72,084,931	Y76N	probably damaging	Het
Lama4	G	T	10: 39,045,755	R424L	possibly damaging	Het
Lepr	A	G	4: 101,745,656	I214V	probably benign	Het
Lipc	G	T	9: 70,802,168	N432K	probably benign	Het
Lipm	C	T	19: 34,116,198	A216V	possibly damaging	Het
Lrrc23	A	G	6: 124,779,125	S2P	unknown	Het
Lyst	T	A	13: 13,637,524	D840E	probably benign	Het
Mmp23	T	A	4: 155,651,584	T204S	probably damaging	Het
Mms19	T	C	19: 41,948,278	T785A	probably benign	Het
Mov10	A	T	3: 104,800,052		probably null	Het
Mtf2	A	G	5: 108,100,970	T383A	probably benign	Het
Myo5c	G	A	9: 75,251,527		probably null	Het
Nfxl1	A	T	5: 72,524,174	C671*	probably null	Het
Npepps	A	G	11: 97,213,156	V813A	probably benign	Het
Nrn1	C	A	13: 36,726,851	W69L	probably damaging	Het
Olfr231	A	C	1: 174,117,187	F276L	probably benign	Het
Olfr543	A	T	7: 102,477,676	Y65N	probably damaging	Het
Olfr656	C	T	7: 104,617,852	H58Y	probably damaging	Het
Olfr663	T	A	7: 104,703,589	D7E	probably benign	Het
Olfr694	T	A	7: 106,689,210	I174F	possibly damaging	Het
Olfr771	A	G	10: 129,160,751	Y78H	possibly damaging	Het
Olfr799	T	C	10: 129,647,158	I10T	probably damaging	Het
Oprd1	A	C	4: 132,114,067	D193E	probably benign	Het
Pcdhac1	G	T	18: 37,092,497	V788L	probably benign	Het
Pcdhb11	G	A	18: 37,423,260	V548M	probably damaging	Het
Pde4c	A	T	8: 70,748,972	E517V	possibly damaging	Het
Pdzd7	T	C	19: 45,033,647	R521G	possibly damaging	Het
Pik3c2a	T	A	7: 116,372,854	K780N	probably damaging	Het
Plb1	T	G	5: 32,321,247		probably null	Het
Plcb4	T	A	2: 136,000,219	L1041Q	probably benign	Het
Pnpla6	G	A	8: 3,516,540		probably null	Het
Ppat	A	T	5: 76,915,979	N441K	probably damaging	Het
Ppp1r1b	G	A	11: 98,355,479	A132T	probably damaging	Het
Prl2c2	A	C	13: 12,997,480		probably null	Het
Prr14	T	C	7: 127,475,286	I330T	probably benign	Het
Pycr1	T	C	11: 120,642,923	D36G	probably benign	Het
Rabep2	T	A	7: 126,438,719	I221N	probably damaging	Het
Rad23b	A	G	4: 55,370,469	D165G	probably benign	Het
Reln	G	A	5: 21,971,953	T1905I	probably damaging	Het
Ripor2	T	C	13: 24,694,205	V321A	probably benign	Het
Rnf43	A	G	11: 87,731,852	D466G	probably benign	Het
Rpl6	A	T	5: 121,205,592	R63W	possibly damaging	Het
S100a14	A	G	3: 90,528,204	T102A	probably benign	Het
Samd11	C	A	4: 156,249,400	V195L	probably benign	Het
Scaper	G	A	9: 55,762,277	Q372*	probably null	Het
Sec14l5	G	T	16: 5,180,875	C593F	probably damaging	Het
Sema6d	T	C	2: 124,654,158	Y41H	probably damaging	Het
Serac1	G	A	17: 6,069,314	R114W	probably damaging	Het
Slc12a4	T	C	8: 105,950,836	E388G	probably benign	Het
Smarcd3	T	C	5: 24,595,812	T164A	probably benign	Het
Smtn	C	A	11: 3,530,249	R324L	probably benign	Het
Spata31d1c	C	T	13: 65,035,361	P239L	probably benign	Het
Srcap	T	C	7: 127,538,517	V1013A	possibly damaging	Het
Sv2b	T	C	7: 75,124,064	N553S	probably damaging	Het
Tex35	T	A	1: 157,105,086	N52I	probably damaging	Het
Ticrr	T	C	7: 79,693,986	S1200P	probably benign	Het
Tmem19	A	G	10: 115,347,699	L125P	probably damaging	Het
Trio	A	G	15: 27,856,107	V666A	probably benign	Het
Ttn	T	C	2: 76,917,283	D4474G	probably benign	Het
Usp43	A	T	11: 67,893,016	S368T	possibly damaging	Het
Vmn2r72	T	A	7: 85,751,140	M234L	probably benign	Het
Wdr93	T	A	7: 79,777,307		probably null	Het
Wrap73	T	A	4: 154,156,127	W359R	probably damaging	Het
Ywhah	A	G	5: 33,026,641	I63V	probably benign	Het
Zbtb7b	G	T	3: 89,381,059	P151T	probably damaging	Het
Zfp318	A	G	17: 46,400,069	N906S	probably damaging	Het
Zfp423	C	A	8: 87,780,713	C1001F	probably damaging	Het
Zmym1	A	G	4: 127,049,398	I399T	possibly damaging	Het
Zmynd15	G	A	11: 70,462,188	G296D	probably benign	Het
Znfx1	T	A	2: 167,048,555	I670F	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
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'- AAATCTCGATCCTCAAGCCCTG -3'
(R):5'- TTACATCCAAAGGTCGGGAAGG -3'

Sequencing Primer
(F):5'- TGGAAAACCCCAGGCTGTTTC -3'
(R):5'- CATCCAAAGGTCGGGAAGGAATTTTC -3'

Posted On

2019-10-07