Mutagenetix > Incidental Mutation

Incidental Mutation 'R9725:Aff1'

730980

Institutional Source

Beutler Lab

Gene Symbol

Aff1

Ensembl Gene

ENSMUSG00000029313

Gene Name

AF4/FMR2 family, member 1

Synonyms

9630032B01Rik, Af4, Rob, Mllt2h

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9725 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103692374-103855322 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103847065 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1043 (D1043V)

Ref Sequence

ENSEMBL: ENSMUSP00000059744 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031256
AA Change: D1051V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031256
Gene: ENSMUSG00000029313
AA Change: D1051V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000054979
AA Change: D1043V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000059744
Gene: ENSMUSG00000029313
AA Change: D1043V

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

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	G	16: 14,472,933	I1469S	possibly damaging	Het
Ahnak	A	G	19: 9,004,169	N939S	probably benign	Het
Ahnak	T	A	19: 9,014,243	I4297N	probably damaging	Het
Camk2b	T	C	11: 5,972,634	N465S	possibly damaging	Het
Carns1	A	G	19: 4,166,549	S545P	probably damaging	Het
Cdh23	T	A	10: 60,596,782	Q121L	probably benign	Het
Cfap221	G	T	1: 119,934,622	Q577K	probably benign	Het
Dlg1	T	G	16: 31,846,865	L680R	probably benign	Het
Fahd2a	T	C	2: 127,436,384	E301G	probably benign	Het
Fn3k	T	A	11: 121,450,365	L282H	probably damaging	Het
Fubp1	T	A	3: 152,222,186	I424N	probably damaging	Het
Gkn1	A	G	6: 87,346,307	S175P	probably damaging	Het
Gm12695	A	G	4: 96,728,229	S456P	probably damaging	Het
Gm4869	G	A	5: 140,474,896	R439H	probably benign	Het
Kcna5	T	C	6: 126,534,881	T95A	probably benign	Het
Kcnj13	G	T	1: 87,387,015	T83K	probably benign	Het
Klra10	C	T	6: 130,275,886	G142R	probably benign	Het
Krt14	T	C	11: 100,207,076	N127S	probably damaging	Het
Layn	T	C	9: 51,057,475	M323V	probably benign	Het
Lrrd1	A	G	5: 3,851,147	D484G	probably benign	Het
Lrrtm2	A	G	18: 35,212,735	C505R	probably damaging	Het
Ms4a14	A	T	19: 11,303,365	S610T	probably benign	Het
Myo5b	A	G	18: 74,723,770	N1282S	probably benign	Het
Naip5	A	T	13: 100,222,276	D817E	possibly damaging	Het
Ndufs2	A	G	1: 171,247,060	L10P	possibly damaging	Het
Nxn	T	C	11: 76,278,536	D139G	probably damaging	Het
Olfr1458	G	A	19: 13,102,908	T132I	possibly damaging	Het
Olfr303	A	C	7: 86,394,765	H244Q	probably damaging	Het
Olfr401	A	G	11: 74,121,786	T166A	probably benign	Het
Pcdhb22	G	T	18: 37,519,741	V164F	probably damaging	Het
Plch2	T	C	4: 155,000,535	T417A	probably damaging	Het
Prcp	G	T	7: 92,917,827		probably null	Het
Rasgrp2	A	G	19: 6,404,664	Y178C	probably damaging	Het
Rasgrp2	A	G	19: 6,413,877	N535S	probably benign	Het
Rgs20	G	T	1: 4,910,570	Y208*	probably null	Het
Slc39a10	A	G	1: 46,810,063	C798R	probably damaging	Het
Slco2b1	A	G	7: 99,686,058	S172P	probably benign	Het
Styk1	GTCTCTTCATGATT	GT	6: 131,301,647		probably benign	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,301,649		probably benign	Het
Tmc2	T	A	2: 130,247,961	I622N	probably damaging	Het
Trav16n	A	G	14: 53,351,102	S5G	probably benign	Het
Tti1	C	T	2: 158,007,384	R645H	probably benign	Het
Ttll3	A	G	6: 113,409,153	D649G	probably damaging	Het
Vcam1	C	T	3: 116,128,638	V79I	possibly damaging	Het
Vmn1r211	T	C	13: 22,852,336	I54V	probably benign	Het
Vmn1r238	A	G	18: 3,122,577	F279S	probably benign	Het
Vps33a	A	T	5: 123,531,072	W589R	possibly damaging	Het
Zic1	A	G	9: 91,364,822	S66P	probably damaging	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
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
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'- GGCATGTGGTTGCTCTTAAC -3'
(R):5'- TGAGTCAGACTAAGTTCCCTCC -3'

Sequencing Primer
(F):5'- GGTTGCTCTTAACCCTTTCCCTG -3'
(R):5'- CCTGGTCTACATAATGAGTTCCAGG -3'

Posted On

2022-10-06