Mutagenetix > Incidental Mutation

Incidental Mutation 'R5166:Aff1'

397292

Institutional Source

Beutler Lab

Gene Symbol

Aff1

Ensembl Gene

ENSMUSG00000029313

Gene Name

AF4/FMR2 family, member 1

Synonyms

9630032B01Rik, Af4, Rob, Mllt2h

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.381) question?

Stock #

R5166 (G1)

Quality Score

141

Status

Not validated

Chromosome

Chromosomal Location

103692374-103855322 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

A to G at 103754657 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119631 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031256] [ENSMUST00000054979] [ENSMUST00000153165]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031256

SMART Domains

Protein: ENSMUSP00000031256
Gene: ENSMUSG00000029313

Domain	Start	End	E-Value	Type
Pfam:AF-4	16	1223	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000054979

SMART Domains

Protein: ENSMUSP00000059744
Gene: ENSMUSG00000029313

Domain	Start	End	E-Value	Type
Pfam:AF-4	8	1216	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126335

Predicted Effect

probably benign
Transcript: ENSMUST00000153165

SMART Domains

Protein: ENSMUSP00000119631
Gene: ENSMUSG00000029313

Domain	Start	End	E-Value	Type
Pfam:AF-4	16	871	N/A	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the AF4/ lymphoid nuclear protein related to AF4/Fragile X E mental retardation syndrome family of proteins, which have been implicated in human childhood lymphoblastic leukemia, Fragile X E site mental retardation, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein related to AF4/Fragile X E mental retardation syndrome domain, and a C-terminal homology domain. Knockout of the mouse gene by homologous recombination severely affects early events in lymphopoiesis, including precursor proliferation or recruitment, but is dispensable for terminal differentiation. In addition, an autosomal dominant missense mutation results in several phenotypes including ataxia and adult-onset Purkinje cell loss in the cerebellum, indicating a role in Purkinje cell maintenance and function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired B and T cell development. Heterozygotes for an ENU-induced mutation exhibit small size, ataxia, adult-onset Purkinje cell loss, cataracts, reduced survival, and low fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	T	C	5: 121,600,020	T435A	probably benign	Het
Adcy3	T	A	12: 4,134,438	I38N	probably damaging	Het
Asxl1	A	G	2: 153,401,121	E1197G	probably damaging	Het
Brinp3	T	A	1: 146,901,367	N517K	probably damaging	Het
Carmil1	C	T	13: 24,154,983		probably null	Het
Ccdc185	G	A	1: 182,748,999	Q42*	probably null	Het
Cdc23	C	A	18: 34,651,689	V7L	unknown	Het
Cdh10	A	G	15: 19,013,360	E682G	probably damaging	Het
Col6a3	C	A	1: 90,810,608	R456L	probably damaging	Het
Egf	C	T	3: 129,735,840	R307H	probably benign	Het
Flt4	T	C	11: 49,633,257		probably null	Het
Fstl5	A	C	3: 76,628,960	K26Q	possibly damaging	Het
Gk5	G	T	9: 96,174,768	A413S	probably damaging	Het
Glcci1	T	A	6: 8,537,854	S157R	probably benign	Het
Gzmc	G	A	14: 56,233,976	A36V	probably damaging	Het
Hexb	T	C	13: 97,182,004	N283S	probably benign	Het
Hydin	A	G	8: 110,523,142	E2239G	possibly damaging	Het
Igkv10-95	A	T	6: 68,680,560	Y20F	probably benign	Het
Il17re	A	G	6: 113,462,962	T181A	probably benign	Het
Kcnh6	G	A	11: 106,020,319	A514T	possibly damaging	Het
Kcnk10	G	A	12: 98,434,995	R460W	probably damaging	Het
Krtap5-2	A	T	7: 142,174,984	S320T	unknown	Het
Larp1b	G	T	3: 40,964,052	E24*	probably null	Het
Mettl22	A	G	16: 8,478,251	T135A	probably benign	Het
Mlh1	A	G	9: 111,241,513	V378A	probably benign	Het
Mmrn1	A	T	6: 60,976,490	H585L	probably benign	Het
Myh14	A	G	7: 44,628,855	F1024L	probably damaging	Het
Nbea	A	T	3: 56,019,453	H776Q	probably damaging	Het
Nod2	A	G	8: 88,664,247	D372G	possibly damaging	Het
Nptn	C	T	9: 58,618,980	R137*	probably null	Het
Olfr825	T	C	10: 130,162,561	Y255C	possibly damaging	Het
Pm20d2	C	T	4: 33,181,803	V267I	probably benign	Het
Rassf10	A	G	7: 112,954,420	D76G	probably benign	Het
Rbbp5	A	G	1: 132,490,565	T41A	possibly damaging	Het
Rttn	T	C	18: 89,013,094	V643A	possibly damaging	Het
Sbno2	C	A	10: 80,066,928	E421*	probably null	Het
Slc17a3	T	C	13: 23,842,542		probably null	Het
Slc1a6	T	A	10: 78,796,269		probably null	Het
Slco2b1	A	G	7: 99,689,013	S106P	possibly damaging	Het
Spef1	T	C	2: 131,174,591	N28S	probably damaging	Het
Srebf2	C	A	15: 82,185,402	T675N	probably damaging	Het
Srp68	C	A	11: 116,265,474	E147D	probably damaging	Het
Tbcd	T	A	11: 121,609,390	L1114H	possibly damaging	Het
Tex15	T	C	8: 33,576,392	V1950A	probably benign	Het
Tnfsf9	T	A	17: 57,106,263	F148Y	possibly damaging	Het
Traf6	A	G	2: 101,690,057	D150G	probably benign	Het
Ttn	A	G	2: 76,863,373	Y262H	possibly damaging	Het
Unc93b1	A	G	19: 3,944,027	Y386C	probably damaging	Het
Vmn1r226	A	T	17: 20,687,863	E119V	probably benign	Het
Wrn	A	T	8: 33,352,072		probably null	Het
Zfp398	A	G	6: 47,865,904	I165V	probably benign	Het
Zfp850	A	T	7: 27,990,356	C142*	probably null	Het

Other mutations in Aff1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Aff1	APN	5	103784077	missense	probably damaging	1.00
IGL02060:Aff1	APN	5	103783849	missense	possibly damaging	0.51
IGL02081:Aff1	APN	5	103834305	missense	probably damaging	1.00
IGL02108:Aff1	APN	5	103811109	critical splice donor site	probably null
IGL03056:Aff1	APN	5	103811081	missense	probably damaging	0.99
IGL03332:Aff1	APN	5	103841105	nonsense	probably null
IGL03340:Aff1	APN	5	103783804	missense	possibly damaging	0.76
IGL03382:Aff1	APN	5	103841060	missense	possibly damaging	0.86
PIT4495001:Aff1	UTSW	5	103849525	missense	probably benign	0.16
R0013:Aff1	UTSW	5	103828484	nonsense	probably null
R0219:Aff1	UTSW	5	103811040	splice site	probably benign
R0520:Aff1	UTSW	5	103847751	nonsense	probably null
R0607:Aff1	UTSW	5	103828454	missense	probably damaging	1.00
R0883:Aff1	UTSW	5	103826138	splice site	probably benign
R1662:Aff1	UTSW	5	103841057	missense	probably damaging	0.99
R1730:Aff1	UTSW	5	103833512	missense	probably damaging	1.00
R1850:Aff1	UTSW	5	103833907	missense	probably damaging	1.00
R3411:Aff1	UTSW	5	103754706	start codon destroyed	probably null	0.53
R4007:Aff1	UTSW	5	103784222	missense	probably benign	0.15
R4207:Aff1	UTSW	5	103818988	critical splice donor site	probably null
R4702:Aff1	UTSW	5	103811069	missense	probably damaging	1.00
R4730:Aff1	UTSW	5	103843073	missense	possibly damaging	0.95
R4784:Aff1	UTSW	5	103847039	nonsense	probably null
R5294:Aff1	UTSW	5	103811157	intron	probably benign
R5435:Aff1	UTSW	5	103754332	unclassified	probably benign
R5436:Aff1	UTSW	5	103783870	missense	probably damaging	1.00
R6065:Aff1	UTSW	5	103842252	missense	probably damaging	1.00
R6114:Aff1	UTSW	5	103842297	missense	probably damaging	0.97
R6298:Aff1	UTSW	5	103754720	missense	possibly damaging	0.68
R7095:Aff1	UTSW	5	103843085	missense	probably damaging	0.97
R7261:Aff1	UTSW	5	103828379	missense	probably damaging	0.97
R7350:Aff1	UTSW	5	103847092	missense	probably benign	0.28
R7423:Aff1	UTSW	5	103847101	missense	probably damaging	1.00
R7469:Aff1	UTSW	5	103833547	missense	probably benign	0.00
R7604:Aff1	UTSW	5	103847809	missense	probably benign	0.09
R7607:Aff1	UTSW	5	103849459	missense	possibly damaging	0.72
R8014:Aff1	UTSW	5	103833869	missense	possibly damaging	0.82
R8219:Aff1	UTSW	5	103846333	missense	probably damaging	1.00
R8315:Aff1	UTSW	5	103811090	missense	probably damaging	0.99
R8837:Aff1	UTSW	5	103834212	missense	possibly damaging	0.77
R8957:Aff1	UTSW	5	103833768	missense	possibly damaging	0.82
R9159:Aff1	UTSW	5	103842265	missense	possibly damaging	0.89
R9377:Aff1	UTSW	5	103833819	missense	probably damaging	0.96
R9381:Aff1	UTSW	5	103833867	missense	possibly damaging	0.85
R9705:Aff1	UTSW	5	103784410	missense	possibly damaging	0.88
R9725:Aff1	UTSW	5	103847065	missense	probably damaging	0.99
R9764:Aff1	UTSW	5	103849499	missense	probably damaging	1.00
Z1177:Aff1	UTSW	5	103783753	missense	possibly damaging	0.71

Predicted Primers

Posted On

2016-07-06