Mutagenetix > Incidental Mutation

Incidental Mutation 'R0520:Aff1'

48452

Institutional Source

Beutler Lab

Gene Symbol

Aff1

Ensembl Gene

ENSMUSG00000029313

Gene Name

AF4/FMR2 family, member 1

Synonyms

9630032B01Rik, Af4, Rob, Mllt2h

MMRRC Submission

038713-MU

Accession Numbers

Essential gene?

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

Stock #

R0520 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103692374-103855322 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 103847751 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 1070 (R1070*)

Ref Sequence

ENSEMBL: ENSMUSP00000059744 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000031256
AA Change: R1078*

SMART Domains

Protein: ENSMUSP00000031256
Gene: ENSMUSG00000029313
AA Change: R1078*

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

Predicted Effect

probably null
Transcript: ENSMUST00000054979
AA Change: R1070*

SMART Domains

Protein: ENSMUSP00000059744
Gene: ENSMUSG00000029313
AA Change: R1070*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010005H15Rik	A	G	16: 36,253,091	I16V	probably benign	Het
Acod1	T	C	14: 103,051,516	I154T	possibly damaging	Het
Acr	G	T	15: 89,573,227	C226F	probably damaging	Het
Aldh9a1	C	T	1: 167,361,391		probably benign	Het
Apaf1	A	T	10: 91,079,989	H12Q	probably damaging	Het
Asic1	A	T	15: 99,695,535	I291F	probably damaging	Het
Aspm	T	A	1: 139,478,820	M1815K	possibly damaging	Het
Asxl3	A	T	18: 22,522,986	D1351V	probably damaging	Het
Atg9a	C	T	1: 75,186,534	W299*	probably null	Het
B3gntl1	C	A	11: 121,623,488	V313F	possibly damaging	Het
B4galnt4	T	A	7: 141,067,373	C345*	probably null	Het
Bicc1	A	T	10: 70,957,190	F211L	probably damaging	Het
Cachd1	T	G	4: 100,897,703	V117G	probably damaging	Het
Cdc16	G	A	8: 13,760,569		probably null	Het
Cers6	C	T	2: 69,105,091	Q312*	probably null	Het
Dclre1c	A	G	2: 3,436,475	H115R	probably damaging	Het
Ddx20	T	C	3: 105,687,376	T18A	probably benign	Het
Dhx57	A	G	17: 80,258,175	V816A	possibly damaging	Het
Dlgap1	C	T	17: 70,516,994	Q325*	probably null	Het
Dnaja1	A	T	4: 40,728,072	M178L	probably benign	Het
Ecd	A	T	14: 20,328,664	S454T	probably benign	Het
Efcab6	G	A	15: 83,950,046	H454Y	probably benign	Het
Exo1	T	A	1: 175,899,465	D447E	probably benign	Het
F5	T	G	1: 164,209,587	I1965S	probably benign	Het
Fbn2	A	G	18: 58,013,749	C2692R	probably damaging	Het
Fggy	T	A	4: 95,601,103	L152Q	probably damaging	Het
Glb1	ACCC	ACC	9: 114,421,744		probably null	Het
Gm9871	A	G	6: 101,801,579		noncoding transcript	Het
Gnai2	A	T	9: 107,620,173	D7E	probably benign	Het
Gon7	C	T	12: 102,757,788		probably benign	Het
H2-K1	A	T	17: 33,997,416	V272E	probably damaging	Het
Hectd4	G	T	5: 121,331,707	R2555L	possibly damaging	Het
Hexb	T	C	13: 97,181,110	R360G	probably benign	Het
Igsf9b	C	A	9: 27,323,250	S470R	probably benign	Het
Inpp5d	T	C	1: 87,705,920		probably benign	Het
Inpp5k	C	A	11: 75,639,530	Y265*	probably null	Het
Klhl33	T	G	14: 50,891,683	E436D	probably damaging	Het
Krt80	A	G	15: 101,370,017	L13P	probably benign	Het
Krtap19-2	C	T	16: 88,873,861		probably benign	Het
March10	T	C	11: 105,389,882	T526A	probably benign	Het
Mcrs1	A	G	15: 99,248,455		probably null	Het
Msh2	G	T	17: 87,717,544	V617F	possibly damaging	Het
Nckap1	A	C	2: 80,541,530		probably benign	Het
Nek4	T	A	14: 30,959,306		probably benign	Het
Olfr1054	G	T	2: 86,333,131	T75K	probably damaging	Het
Olfr1410	T	A	1: 92,608,749	V304E	probably damaging	Het
Olfr871	G	A	9: 20,212,495	V49I	probably benign	Het
Olfr875	T	C	9: 37,773,553	V298A	probably benign	Het
Osgin1	A	G	8: 119,442,508	H48R	probably damaging	Het
Pam	T	A	1: 97,884,195	T369S	probably benign	Het
Pclo	C	T	5: 14,713,830	Q821*	probably null	Het
Plekhm1	T	C	11: 103,394,944	I222V	probably benign	Het
Ptprg	T	G	14: 12,199,783	N65K	possibly damaging	Het
Pum2	T	A	12: 8,721,710	V351E	probably damaging	Het
Slc25a54	T	A	3: 109,107,230		probably benign	Het
Smchd1	A	T	17: 71,429,543	D587E	possibly damaging	Het
Stap1	A	G	5: 86,090,964	M164V	probably benign	Het
Stat5a	T	C	11: 100,861,426	V30A	probably damaging	Het
Stk36	T	G	1: 74,602,206		probably benign	Het
Tiam1	G	T	16: 89,817,951		probably benign	Het
Tmc5	T	C	7: 118,666,576	M553T	probably damaging	Het
Tmem14a	T	A	1: 21,229,412	Y89N	possibly damaging	Het
Tpp2	A	G	1: 43,990,530	Y991C	probably damaging	Het
Ttc7	A	G	17: 87,359,151	K615E	possibly damaging	Het
Ubac2	C	T	14: 121,994,342	P227S	probably damaging	Het
Vit	A	C	17: 78,625,159	K565T	probably damaging	Het
Vps13c	T	C	9: 67,945,851	F2409L	possibly damaging	Het
Wdr64	A	G	1: 175,726,392	T173A	probably damaging	Het
Zfp759	T	C	13: 67,137,355	I60T	probably benign	Het
Zfp81	A	G	17: 33,334,377	S488P	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,476,364		probably benign	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
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
R5166:Aff1	UTSW	5	103754657	start gained	probably benign
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

PCR Primer
(F):5'- GAGATGCTTAAGGGGACTTGCTCAG -3'
(R):5'- TCTCAGAGGGACGGTGTAGCTAAC -3'

Sequencing Primer
(F):5'- GACTTGCTCAGCCAGAGG -3'
(R):5'- CAGATCTTGGGAAATCCATAGTCAC -3'

Posted On

2013-06-12