Mutagenetix > Incidental Mutation

Incidental Mutation 'R1500:Aff4'

169195

Institutional Source

Beutler Lab

Gene Symbol

Aff4

Ensembl Gene

ENSMUSG00000049470

Gene Name

AF4/FMR2 family, member 4

Synonyms

Laf4l, Alf4

MMRRC Submission

039551-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1500 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53241660-53312657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53263205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 75 (V75A)

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: V75A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000051479
Gene: ENSMUSG00000049470
AA Change: V75A

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
AA Change: V75A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000120613
Gene: ENSMUSG00000049470
AA Change: V75A

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

Meta Mutation Damage Score

0.0916

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 87.1%

Validation Efficiency

95% (81/85)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	A	G	17: 31,330,253 (GRCm39)	D518G	probably benign	Het
Acaca	T	A	11: 84,184,810 (GRCm39)	D96E	probably benign	Het
Actbl2	G	A	13: 111,391,854 (GRCm39)	R63Q	probably damaging	Het
Adamts6	T	A	13: 104,449,389 (GRCm39)	H266Q	probably damaging	Het
Ank2	A	G	3: 126,726,631 (GRCm39)	S888P	probably benign	Het
Ano7	T	C	1: 93,325,050 (GRCm39)	F534S	probably damaging	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Bcam	T	A	7: 19,492,889 (GRCm39)	D484V	possibly damaging	Het
Bltp2	C	A	11: 78,174,958 (GRCm39)	Q1698K	possibly damaging	Het
Ccdc88a	T	C	11: 29,432,713 (GRCm39)	Y1240H	probably benign	Het
Cfh	T	C	1: 140,028,614 (GRCm39)	Y500C	probably damaging	Het
Chd1l	G	A	3: 97,490,121 (GRCm39)	A478V	probably benign	Het
Dnah1	T	C	14: 31,038,715 (GRCm39)	D122G	probably benign	Het
Dnah11	A	T	12: 117,976,564 (GRCm39)		probably null	Het
Dnah17	T	C	11: 117,991,879 (GRCm39)	K1230E	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
E330020D12Rik	A	T	1: 153,284,125 (GRCm39)		noncoding transcript	Het
Ece2	T	C	16: 20,462,992 (GRCm39)	L639P	probably damaging	Het
Epha3	A	T	16: 63,416,025 (GRCm39)	V658E	probably benign	Het
Erbb2	C	T	11: 98,319,804 (GRCm39)	T632I	probably damaging	Het
Erc2	A	G	14: 27,993,617 (GRCm39)	T883A	probably damaging	Het
Extl2	T	C	3: 115,820,789 (GRCm39)	V198A	probably benign	Het
Fktn	G	T	4: 53,735,065 (GRCm39)	M234I	probably benign	Het
Ggt7	A	G	2: 155,340,966 (GRCm39)	S400P	probably benign	Het
Gldc	A	C	19: 30,091,225 (GRCm39)	V790G	possibly damaging	Het
Gm14496	A	C	2: 181,633,026 (GRCm39)	Q3P	probably benign	Het
H2-D1	G	A	17: 35,482,564 (GRCm39)	E95K	probably benign	Het
Ikzf3	T	C	11: 98,409,521 (GRCm39)	E14G	probably benign	Het
Jag1	A	T	2: 136,957,558 (GRCm39)	N51K	possibly damaging	Het
Khdrbs3	A	G	15: 68,800,635 (GRCm39)	D14G	possibly damaging	Het
Krt84	A	G	15: 101,438,659 (GRCm39)	V276A	probably damaging	Het
Lamb1	T	C	12: 31,348,948 (GRCm39)	I660T	possibly damaging	Het
Lcmt2	A	T	2: 120,970,488 (GRCm39)	S198R	probably benign	Het
Lcn6	G	A	2: 25,567,131 (GRCm39)	R44H	probably benign	Het
Lrfn5	A	T	12: 61,886,527 (GRCm39)	H105L	probably damaging	Het
Lrit1	G	A	14: 36,784,091 (GRCm39)	R473K	probably benign	Het
Marchf1	A	G	8: 66,921,042 (GRCm39)	T495A	probably damaging	Het
Marveld3	T	G	8: 110,675,174 (GRCm39)		probably null	Het
Mbd3	T	C	10: 80,230,420 (GRCm39)	D160G	possibly damaging	Het
Mrc2	T	G	11: 105,238,551 (GRCm39)	C1233G	probably damaging	Het
Ms4a13	T	G	19: 11,161,225 (GRCm39)	T105P	probably damaging	Het
Mtbp	T	C	15: 55,480,951 (GRCm39)	Y306H	probably damaging	Het
Muc3a	T	C	5: 137,244,958 (GRCm39)		probably benign	Het
Myo1g	T	A	11: 6,470,811 (GRCm39)	Y15F	probably benign	Het
Nae1	A	T	8: 105,250,216 (GRCm39)	Y226N	probably benign	Het
Nlrp9a	A	G	7: 26,267,316 (GRCm39)	S715G	probably benign	Het
Or1j10	A	T	2: 36,267,633 (GRCm39)	M282L	probably benign	Het
Or2ag17	T	C	7: 106,390,028 (GRCm39)	Y60C	probably damaging	Het
Or4s2b	T	A	2: 88,508,219 (GRCm39)	S7T	possibly damaging	Het
Or7g26	A	T	9: 19,230,612 (GRCm39)	S267C	probably damaging	Het
Or8g55	G	T	9: 39,784,707 (GRCm39)	M45I	probably benign	Het
Pex5l	T	C	3: 33,069,129 (GRCm39)	T123A	probably damaging	Het
Pip5kl1	A	T	2: 32,466,691 (GRCm39)	N62I	probably benign	Het
Pkhd1l1	T	C	15: 44,408,890 (GRCm39)	V2459A	probably damaging	Het
Prb1a	T	A	6: 132,184,439 (GRCm39)	Q398L	unknown	Het
Prkab2	T	C	3: 97,571,263 (GRCm39)	L165S	probably damaging	Het
Prl3d2	C	G	13: 27,305,689 (GRCm39)		probably benign	Het
Ptdss1	G	A	13: 67,143,472 (GRCm39)	G435D	probably benign	Het
Qrfpr	A	G	3: 36,236,729 (GRCm39)	L224P	probably damaging	Het
Rasl2-9	C	T	7: 5,128,441 (GRCm39)	W163*	probably null	Het
Rgs5	A	G	1: 169,517,983 (GRCm39)		probably null	Het
Rnf19b	T	C	4: 128,972,754 (GRCm39)	L255P	probably damaging	Het
Rp9	A	C	9: 22,368,751 (GRCm39)	N69K	probably damaging	Het
Sh3bp4	G	T	1: 89,073,210 (GRCm39)	S686I	probably damaging	Het
Shfl	AGAGGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGAGGA	9: 20,785,013 (GRCm39)		probably benign	Het
Spp2	C	A	1: 88,340,015 (GRCm39)	Q5K	possibly damaging	Het
Svep1	C	T	4: 58,070,239 (GRCm39)	G2516R	probably damaging	Het
Syncrip	A	C	9: 88,361,949 (GRCm39)	S55R	probably damaging	Het
Tacc3	T	C	5: 33,818,652 (GRCm39)	L29P	probably damaging	Het
Tex15	A	G	8: 34,065,120 (GRCm39)	T1517A	probably damaging	Het
Tmem140	A	G	6: 34,849,660 (GRCm39)	M59V	probably benign	Het
Ttn	G	T	2: 76,575,872 (GRCm39)	A25007E	probably damaging	Het
Ubr2	T	C	17: 47,297,615 (GRCm39)	T253A	possibly damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Usp38	A	G	8: 81,722,399 (GRCm39)	L374P	probably damaging	Het
Vmn1r42	T	A	6: 89,822,483 (GRCm39)	I29L	probably benign	Het
Vmn2r94	C	T	17: 18,477,242 (GRCm39)	V390M	probably benign	Het
Vmp1	A	G	11: 86,552,026 (GRCm39)	Y113H	possibly damaging	Het
Wdr20	T	C	12: 110,760,464 (GRCm39)	M450T	probably benign	Het
Ylpm1	T	C	12: 85,061,770 (GRCm39)	V557A	unknown	Het
Zpld1	T	C	16: 55,053,935 (GRCm39)	N286D	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
R1464:Aff4	UTSW	11	53,263,351 (GRCm39)	missense	probably damaging	0.97
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'- TCCTGCTACTGCTGTAGGAGTCAC -3'

Sequencing Primer
(F):5'- CCCAGCGTGTAAACGGTTC -3'
(R):5'- CTGTAGGAGTCACGGTCATGC -3'

Posted On

2014-04-13