Mutagenetix > Incidental Mutation

Incidental Mutation 'R1464:Aff4'

165344

Institutional Source

Beutler Lab

Gene Symbol

Aff4

Ensembl Gene

ENSMUSG00000049470

Gene Name

AF4/FMR2 family, member 4

Synonyms

Laf4l, Alf4

MMRRC Submission

039518-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1464 (G1)

Quality Score

211

Status

Not validated

Chromosome

Chromosomal Location

53241660-53312657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53263351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 124 (S124T)

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: S124T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000051479
Gene: ENSMUSG00000049470
AA Change: S124T

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

Coding Region Coverage

1x: 99.5%
3x: 98.0%
10x: 91.0%
20x: 72.6%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030469F06Rik	A	G	12: 31,234,914 (GRCm39)		noncoding transcript	Het
Adamts8	T	A	9: 30,862,673 (GRCm39)	W86R	probably benign	Het
Adh1	A	G	3: 137,994,508 (GRCm39)		probably null	Het
Adipor2	A	T	6: 119,338,804 (GRCm39)	W150R	probably damaging	Het
Ahnak	G	T	19: 8,982,260 (GRCm39)	K1181N	probably damaging	Het
Alkbh5	A	G	11: 60,429,873 (GRCm39)	I209V	probably benign	Het
Ankrd11	T	C	8: 123,619,463 (GRCm39)	E1442G	probably damaging	Het
Apba2	T	A	7: 64,345,297 (GRCm39)	D162E	probably benign	Het
Asic3	G	A	5: 24,618,819 (GRCm39)	G37E	probably damaging	Het
AU040320	A	T	4: 126,685,824 (GRCm39)	K133N	possibly damaging	Het
C1qtnf7	A	G	5: 43,766,481 (GRCm39)	S34G	probably benign	Het
Ccdc148	T	A	2: 58,796,374 (GRCm39)	R463*	probably null	Het
Ccdc148	T	C	2: 58,824,455 (GRCm39)	R329G	probably damaging	Het
Ccdc185	A	G	1: 182,576,263 (GRCm39)	I142T	probably benign	Het
Chrna10	G	A	7: 101,763,454 (GRCm39)	P114S	probably damaging	Het
Chst10	A	G	1: 38,904,772 (GRCm39)	I311T	probably damaging	Het
Cpne9	T	C	6: 113,271,698 (GRCm39)	Y353H	probably damaging	Het
Cubn	G	T	2: 13,330,099 (GRCm39)	A2594E	possibly damaging	Het
Cyp3a13	T	C	5: 137,903,827 (GRCm39)	N277S	possibly damaging	Het
Dctn4	A	G	18: 60,671,478 (GRCm39)	T117A	probably damaging	Het
Ddah1	A	T	3: 145,559,029 (GRCm39)	K96*	probably null	Het
Ddx5	A	C	11: 106,675,711 (GRCm39)	D326E	probably benign	Het
Dlg2	T	C	7: 91,617,406 (GRCm39)	S323P	probably damaging	Het
Dnaaf1	C	T	8: 120,306,049 (GRCm39)	H109Y	probably damaging	Het
Dnah8	C	A	17: 30,914,147 (GRCm39)	R1098S	possibly damaging	Het
Dnajc13	T	C	9: 104,091,366 (GRCm39)	T642A	probably benign	Het
Dnajc18	A	G	18: 35,813,900 (GRCm39)	S290P	possibly damaging	Het
Dscam	T	A	16: 96,602,453 (GRCm39)	H663L	possibly damaging	Het
Emc1	A	G	4: 139,098,248 (GRCm39)	N740S	probably damaging	Het
Enpp2	C	T	15: 54,727,208 (GRCm39)	G541D	probably damaging	Het
Fam234b	C	T	6: 135,205,490 (GRCm39)	T485I	probably benign	Het
Fbxl13	A	T	5: 21,688,989 (GRCm39)	I773K	probably benign	Het
Fmo4	A	G	1: 162,621,924 (GRCm39)	F429S	possibly damaging	Het
Frem1	T	C	4: 82,930,116 (GRCm39)	S277G	probably damaging	Het
Gaa	A	G	11: 119,163,810 (GRCm39)	I221V	probably benign	Het
Helz2	T	C	2: 180,881,447 (GRCm39)	E345G	probably damaging	Het
Ifna4	G	T	4: 88,760,237 (GRCm39)	R47I	probably damaging	Het
Igsf21	C	A	4: 139,761,836 (GRCm39)	A281S	probably benign	Het
Ikzf3	T	A	11: 98,407,731 (GRCm39)	I37L	probably benign	Het
Jag1	T	C	2: 136,957,568 (GRCm39)	E48G	probably damaging	Het
Jarid2	G	T	13: 45,001,857 (GRCm39)	V57F	probably damaging	Het
Kcnj4	A	G	15: 79,369,605 (GRCm39)	L125P	probably damaging	Het
Kif21b	A	G	1: 136,083,891 (GRCm39)	K713E	possibly damaging	Het
Layn	T	A	9: 50,968,886 (GRCm39)	S286C	probably damaging	Het
Lepr	T	A	4: 101,592,878 (GRCm39)	D164E	probably benign	Het
Macroh2a1	A	T	13: 56,230,949 (GRCm39)	S310T	probably damaging	Het
Map3k1	T	C	13: 111,892,405 (GRCm39)	H950R	possibly damaging	Het
Map4k5	C	A	12: 69,852,124 (GRCm39)	V801L	possibly damaging	Het
Mapkbp1	T	A	2: 119,851,742 (GRCm39)	S895T	probably benign	Het
Naca	T	A	10: 127,884,157 (GRCm39)	M2157K	probably damaging	Het
Nav2	T	C	7: 49,011,952 (GRCm39)	I61T	probably damaging	Het
Nkx2-5	C	A	17: 27,058,253 (GRCm39)	A234S	probably benign	Het
Nol8	G	A	13: 49,830,264 (GRCm39)	S1116N	probably benign	Het
Nppa	T	C	4: 148,085,304 (GRCm39)	S5P	probably benign	Het
Nup210	A	G	6: 91,030,551 (GRCm39)	V123A	possibly damaging	Het
Or13a21	G	T	7: 139,999,286 (GRCm39)	N133K	probably benign	Het
Osbpl11	A	G	16: 33,049,455 (GRCm39)	K604R	probably damaging	Het
Osbpl1a	C	T	18: 13,047,615 (GRCm39)	S113N	probably benign	Het
P2rx4	C	A	5: 122,852,602 (GRCm39)	P92Q	probably damaging	Het
Pde9a	A	T	17: 31,692,136 (GRCm39)	Q148L	probably benign	Het
Phf21b	T	A	15: 84,689,160 (GRCm39)	H122L	probably damaging	Het
Pik3ca	T	A	3: 32,515,990 (GRCm39)	F977I	probably damaging	Het
Potefam1	A	G	2: 111,055,748 (GRCm39)		probably null	Het
Pp2d1	T	G	17: 53,823,015 (GRCm39)	K17T	possibly damaging	Het
Ppp4r2	A	G	6: 100,843,527 (GRCm39)	E415G	probably damaging	Het
Pramel19	T	A	4: 101,798,503 (GRCm39)	L158Q	probably damaging	Het
Prkg1	A	G	19: 30,556,270 (GRCm39)	S559P	probably damaging	Het
Prss45	A	T	9: 110,670,019 (GRCm39)	Y276F	possibly damaging	Het
Ptk7	G	T	17: 46,883,517 (GRCm39)	N849K	probably damaging	Het
Rnf121	A	G	7: 101,680,782 (GRCm39)	I125T	possibly damaging	Het
Rnf17	A	G	14: 56,699,368 (GRCm39)	N502S	probably damaging	Het
Sap25	T	A	5: 137,640,622 (GRCm39)	Y167*	probably null	Het
Sdk2	G	A	11: 113,720,906 (GRCm39)	T1341I	possibly damaging	Het
Sgcb	A	G	5: 73,792,896 (GRCm39)	V302A	probably benign	Het
Skor1	T	A	9: 63,047,393 (GRCm39)	M865L	possibly damaging	Het
Slc35g1	C	A	19: 38,391,665 (GRCm39)	L316I	probably benign	Het
Slco1a8	C	T	6: 141,938,243 (GRCm39)	W225*	probably null	Het
Spint4	T	A	2: 164,540,568 (GRCm39)	L33H	probably damaging	Het
Sptlc3	A	T	2: 139,389,154 (GRCm39)	D178V	probably benign	Het
Tbc1d2	T	A	4: 46,606,491 (GRCm39)	Y818F	possibly damaging	Het
Tbc1d24	A	T	17: 24,400,197 (GRCm39)		probably null	Het
Teddm2	C	T	1: 153,726,277 (GRCm39)	W146*	probably null	Het
Ttn	T	A	2: 76,589,338 (GRCm39)	D12948V	probably damaging	Het
Txndc8	T	C	4: 58,000,274 (GRCm39)	T102A	probably damaging	Het
Uxs1	G	A	1: 43,804,076 (GRCm39)	Q280*	probably null	Het
Vmn1r167	T	C	7: 23,204,681 (GRCm39)	T112A	possibly damaging	Het
Vmn1r195	A	T	13: 22,463,348 (GRCm39)	I273L	probably benign	Het
Vmn1r28	T	A	6: 58,242,217 (GRCm39)	M20K	probably benign	Het
Vmn1r53	G	A	6: 90,200,914 (GRCm39)	L137F	probably benign	Het
Vps13b	C	T	15: 35,709,630 (GRCm39)	A1859V	probably benign	Het
Vwa5b2	A	G	16: 20,415,019 (GRCm39)	H347R	probably benign	Het
Wnk2	G	A	13: 49,235,451 (GRCm39)	P655S	probably damaging	Het
Zan	T	G	5: 137,418,191 (GRCm39)	D2969A	unknown	Het
Zbtb24	A	G	10: 41,331,075 (GRCm39)	H334R	probably damaging	Het
Zfp108	A	G	7: 23,959,973 (GRCm39)	D188G	probably benign	Het
Zfp784	A	T	7: 5,038,800 (GRCm39)	C253S	possibly damaging	Het
Zfr	T	G	15: 12,146,458 (GRCm39)	C336W	probably damaging	Het

Other mutations in Aff4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00793:Aff4	APN	11	53,302,817 (GRCm39)	missense	probably damaging	0.98
IGL01348:Aff4	APN	11	53,293,327 (GRCm39)	missense	probably benign
IGL01446:Aff4	APN	11	53,306,296 (GRCm39)	missense	probably damaging	0.99
IGL02151:Aff4	APN	11	53,290,633 (GRCm39)	missense	probably benign
IGL02526:Aff4	APN	11	53,297,509 (GRCm39)	splice site	probably benign
IGL02567:Aff4	APN	11	53,263,578 (GRCm39)	missense	possibly damaging	0.64
IGL02633:Aff4	APN	11	53,300,198 (GRCm39)	splice site	probably benign
IGL02707:Aff4	APN	11	53,290,567 (GRCm39)	missense	probably benign
R0090:Aff4	UTSW	11	53,283,609 (GRCm39)	missense	probably benign	0.01
R0128:Aff4	UTSW	11	53,306,293 (GRCm39)	missense	probably damaging	0.99
R0243:Aff4	UTSW	11	53,288,685 (GRCm39)	missense	possibly damaging	0.74
R0345:Aff4	UTSW	11	53,263,708 (GRCm39)	missense	probably benign	0.00
R0347:Aff4	UTSW	11	53,290,915 (GRCm39)	missense	probably benign	0.01
R0732:Aff4	UTSW	11	53,266,423 (GRCm39)	missense	probably benign
R0737:Aff4	UTSW	11	53,301,780 (GRCm39)	nonsense	probably null
R1464:Aff4	UTSW	11	53,263,351 (GRCm39)	missense	probably damaging	0.97
R1500:Aff4	UTSW	11	53,263,205 (GRCm39)	missense	probably benign	0.00
R1693:Aff4	UTSW	11	53,287,380 (GRCm39)	missense	probably damaging	1.00
R1743:Aff4	UTSW	11	53,259,522 (GRCm39)	missense	possibly damaging	0.65
R1961:Aff4	UTSW	11	53,263,826 (GRCm39)	missense	probably damaging	1.00
R2048:Aff4	UTSW	11	53,289,212 (GRCm39)	missense	probably benign	0.39
R2138:Aff4	UTSW	11	53,263,339 (GRCm39)	missense	possibly damaging	0.94
R2155:Aff4	UTSW	11	53,290,446 (GRCm39)	missense	probably damaging	1.00
R2379:Aff4	UTSW	11	53,299,305 (GRCm39)	splice site	probably benign
R4156:Aff4	UTSW	11	53,301,726 (GRCm39)	intron	probably benign
R5001:Aff4	UTSW	11	53,295,184 (GRCm39)	missense	probably damaging	1.00
R5281:Aff4	UTSW	11	53,263,115 (GRCm39)	missense	probably damaging	1.00
R5477:Aff4	UTSW	11	53,299,299 (GRCm39)	critical splice donor site	probably null
R5677:Aff4	UTSW	11	53,291,102 (GRCm39)	missense	possibly damaging	0.55
R5992:Aff4	UTSW	11	53,263,837 (GRCm39)	missense	probably damaging	0.99
R6576:Aff4	UTSW	11	53,291,268 (GRCm39)	missense	probably damaging	1.00
R6764:Aff4	UTSW	11	53,290,657 (GRCm39)	missense	probably damaging	1.00
R6988:Aff4	UTSW	11	53,289,064 (GRCm39)	missense	probably damaging	1.00
R7034:Aff4	UTSW	11	53,299,236 (GRCm39)	missense	probably damaging	0.99
R7177:Aff4	UTSW	11	53,297,466 (GRCm39)	missense	probably benign	0.10
R7426:Aff4	UTSW	11	53,263,702 (GRCm39)	missense	probably damaging	1.00
R7755:Aff4	UTSW	11	53,289,206 (GRCm39)	missense	probably damaging	0.97
R7848:Aff4	UTSW	11	53,295,339 (GRCm39)	missense	probably benign	0.05
R7968:Aff4	UTSW	11	53,300,175 (GRCm39)	missense	probably damaging	1.00
R8159:Aff4	UTSW	11	53,302,721 (GRCm39)	missense	possibly damaging	0.71
R8218:Aff4	UTSW	11	53,289,084 (GRCm39)	missense	probably damaging	0.98
R8241:Aff4	UTSW	11	53,290,998 (GRCm39)	missense	probably benign	0.00
R8284:Aff4	UTSW	11	53,295,379 (GRCm39)	missense	probably damaging	0.99
R8373:Aff4	UTSW	11	53,291,094 (GRCm39)	nonsense	probably null
R8695:Aff4	UTSW	11	53,259,509 (GRCm39)	missense	probably damaging	1.00
R8777:Aff4	UTSW	11	53,290,783 (GRCm39)	missense	probably damaging	1.00
R8777-TAIL:Aff4	UTSW	11	53,290,783 (GRCm39)	missense	probably damaging	1.00
R8780:Aff4	UTSW	11	53,271,444 (GRCm39)	missense	probably damaging	1.00
R8798:Aff4	UTSW	11	53,291,335 (GRCm39)	critical splice donor site	probably benign
R8838:Aff4	UTSW	11	53,297,465 (GRCm39)	missense	possibly damaging	0.77
R8939:Aff4	UTSW	11	53,263,231 (GRCm39)	missense	probably benign
R9146:Aff4	UTSW	11	53,298,963 (GRCm39)	missense	probably benign	0.06
R9329:Aff4	UTSW	11	53,288,686 (GRCm39)	missense	probably damaging	1.00
R9378:Aff4	UTSW	11	53,263,306 (GRCm39)	missense	probably damaging	0.98
R9471:Aff4	UTSW	11	53,271,473 (GRCm39)	missense	probably benign	0.13
R9779:Aff4	UTSW	11	53,263,734 (GRCm39)	nonsense	probably null
R9796:Aff4	UTSW	11	53,302,824 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGTGCTCACCCAGCGTGTAAAC -3'
(R):5'- CCAGGGCTTGAGGATCGAGATTTG -3'

Sequencing Primer
(F):5'- GTTATCAAGTCGGATTCAGAGC -3'
(R):5'- AGGATCGAGATTTGGAGTGC -3'

Posted On

2014-03-28