Mutagenetix > Incidental Mutation

Incidental Mutation 'R4784:Aff1'

366816

Institutional Source

Beutler Lab

Gene Symbol

Aff1

Ensembl Gene

ENSMUSG00000029313

Gene Name

AF4/FMR2 family, member 1

Synonyms

9630032B01Rik, Af4, Rob, Mllt2h

MMRRC Submission

041994-MU

Accession Numbers

Essential gene?

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

Stock #

R4784 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103692374-103855322 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 103847039 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1034 (Y1034*)

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 null
Transcript: ENSMUST00000031256
AA Change: Y1042*

SMART Domains

Protein: ENSMUSP00000031256
Gene: ENSMUSG00000029313
AA Change: Y1042*

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

Predicted Effect

probably null
Transcript: ENSMUST00000054979
AA Change: Y1034*

SMART Domains

Protein: ENSMUSP00000059744
Gene: ENSMUSG00000029313
AA Change: Y1034*

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1a	T	A	14: 66,637,824	S83T	probably damaging	Het
Ago3	A	T	4: 126,368,503	M418K	probably benign	Het
Alpk1	G	T	3: 127,687,592	N175K	possibly damaging	Het
Als2	A	G	1: 59,215,313	V295A	probably benign	Het
Arhgap32	A	G	9: 32,129,653	D67G	probably damaging	Het
Arhgap32	T	C	9: 32,260,780	C1619R	probably damaging	Het
Asns	T	G	6: 7,678,029	K350Q	probably benign	Het
Atp8b5	A	T	4: 43,356,980	D576V	probably damaging	Het
Atrnl1	A	G	19: 57,629,158	I122V	probably damaging	Het
Baz1b	T	G	5: 135,217,413	L572R	possibly damaging	Het
C4b	T	C	17: 34,733,406	T1220A	probably benign	Het
Carmil3	T	C	14: 55,501,321		probably null	Het
Ccndbp1	A	T	2: 121,008,522	T5S	probably benign	Het
Chaf1b	T	C	16: 93,884,542	V16A	probably damaging	Het
Chd8	C	A	14: 52,205,368	C575F	probably damaging	Het
Chrna10	G	A	7: 102,113,219	P255S	possibly damaging	Het
Clip1	T	C	5: 123,579,293	D1387G	probably damaging	Het
Col12a1	C	A	9: 79,678,494	V1228F	possibly damaging	Het
Cxcr5	T	C	9: 44,513,341	T340A	probably benign	Het
Cyp2e1	G	A	7: 140,763,908	V20I	possibly damaging	Het
Dchs1	A	G	7: 105,765,926	Y684H	probably damaging	Het
Dcun1d3	T	C	7: 119,857,664	E275G	probably damaging	Het
Dgcr8	G	A	16: 18,258,310	R4*	probably null	Het
Dglucy	A	T	12: 100,838,664	D168V	probably damaging	Het
Dnah1	T	A	14: 31,263,479	K3818N	probably damaging	Het
Dnajc17	T	C	2: 119,179,428	D239G	probably benign	Het
Dok2	C	T	14: 70,777,874	P347L	probably benign	Het
Elavl2	T	C	4: 91,254,142	R265G	probably null	Het
Elf1	T	A	14: 79,580,743	N567K	probably benign	Het
Epha8	A	T	4: 136,933,322	I695N	probably damaging	Het
Fam103a1	T	A	7: 81,768,415	W73R	probably damaging	Het
Fam178b	C	A	1: 36,632,415		probably null	Het
Fam76a	A	T	4: 132,902,117		probably null	Het
Fam76a	A	G	4: 132,916,190	Y78H	probably damaging	Het
Fbn1	A	T	2: 125,324,919	C2026S	probably damaging	Het
Fbxo4	T	C	15: 3,969,041	T312A	probably benign	Het
Fscn2	T	C	11: 120,367,987	F453L	possibly damaging	Het
Gabrb2	T	C	11: 42,597,642	C312R	probably damaging	Het
Gba2	A	C	4: 43,568,315	L684R	probably damaging	Het
Golga2	T	A	2: 32,297,156	N89K	probably damaging	Het
Gpx6	C	T	13: 21,312,264	Q3*	probably null	Het
Grin1	T	A	2: 25,292,381	H956L	possibly damaging	Het
H2-Q7	T	G	17: 35,439,938	C122G	probably damaging	Het
Hcar2	C	G	5: 123,864,450	G330A	probably benign	Het
Hes3	A	G	4: 152,287,832	S37P	probably damaging	Het
Hs3st3b1	T	C	11: 63,889,260	H347R	probably benign	Het
Il1rl1	A	G	1: 40,450,188	R367G	probably damaging	Het
Kcnc1	G	T	7: 46,437,287	S570I	probably benign	Het
Kctd3	T	C	1: 188,974,468	I523M	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Kntc1	T	G	5: 123,816,762	M2081R	possibly damaging	Het
Krt83	A	G	15: 101,487,956	S253P	probably damaging	Het
Ktn1	T	A	14: 47,693,496		probably null	Het
Lair1	T	A	7: 4,009,732	M251L	probably benign	Het
Lama3	A	T	18: 12,449,544	H631L	probably benign	Het
Lamc1	T	C	1: 153,231,740	N1231S	probably damaging	Het
Lin54	A	G	5: 100,459,738	I250T	probably damaging	Het
Lrit1	C	T	14: 37,062,236	T507M	possibly damaging	Het
Lrp11	A	G	10: 7,604,201	H345R	possibly damaging	Het
Lrp6	A	C	6: 134,479,539	S921A	probably benign	Het
Lrrc27	A	G	7: 139,242,698	T502A	probably benign	Het
Marf1	A	C	16: 14,152,457	S133A	probably benign	Het
Mga	C	T	2: 119,903,057	P129S	probably damaging	Het
Mgat4e	T	C	1: 134,541,325	N327S	probably damaging	Het
Mlh1	A	G	9: 111,239,798	Y499H	probably benign	Het
Mrgpra1	A	G	7: 47,335,470	S154P	probably damaging	Het
Myo1h	A	G	5: 114,360,599	I919V	possibly damaging	Het
Naalad2	T	C	9: 18,350,918	R442G	probably damaging	Het
Nat8f4	T	C	6: 85,901,499	H14R	probably benign	Het
Nav1	A	G	1: 135,458,739	S1184P	probably damaging	Het
Nckap1	T	A	2: 80,506,934	N986I	probably benign	Het
Ndufaf2	C	G	13: 108,052,780	A145P	probably damaging	Het
Nop9	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	14: 55,746,402		probably benign	Het
Nphp4	G	A	4: 152,554,546	R878K	probably benign	Het
Nutm1	G	A	2: 112,248,936	A878V	probably benign	Het
Olfr1305	A	T	2: 111,873,050	D268E	possibly damaging	Het
Olfr172	G	T	16: 58,760,548	F209L	probably damaging	Het
Olfr675	A	C	7: 105,024,530	I150S	probably damaging	Het
Orc6	T	A	8: 85,302,950	I41K	probably damaging	Het
Pikfyve	A	G	1: 65,267,846	T1798A	probably benign	Het
Ppp1r14a	A	T	7: 29,292,061	E98V	possibly damaging	Het
Pqlc2	G	T	4: 139,300,001	H343Q	probably benign	Het
Prpf8	T	A	11: 75,492,505	D521E	probably damaging	Het
Pudp	A	G	18: 50,568,065	V199A	probably damaging	Het
Rab3c	T	C	13: 110,061,900	E198G	probably benign	Het
Rbl2	A	G	8: 91,085,568	Y255C	probably damaging	Het
Rbm12	T	C	2: 156,096,564	D596G	possibly damaging	Het
Sipa1l3	A	G	7: 29,377,641	V902A	probably damaging	Het
Slc37a3	T	G	6: 39,337,223	Q485P	probably benign	Het
Slc44a3	T	C	3: 121,527,074	T93A	possibly damaging	Het
Sun3	G	A	11: 9,038,266	L19F	probably benign	Het
Tas2r125	A	G	6: 132,909,903	I85V	probably benign	Het
Tenm4	A	C	7: 96,774,046	K683Q	probably damaging	Het
Tmprss11d	C	T	5: 86,306,281	V222M	probably damaging	Het
Tnip1	A	C	11: 54,915,539	S570A	possibly damaging	Het
Top1mt	G	A	15: 75,657,703	P554S	probably damaging	Het
Top1mt	A	G	15: 75,676,031	F69L	possibly damaging	Het
Ttc7	A	G	17: 87,340,897	K508R	probably benign	Het
Ttll4	A	T	1: 74,679,007	T6S	possibly damaging	Het
Xpo5	T	C	17: 46,222,717	Y500H	possibly damaging	Het
Xpot	C	T	10: 121,615,063		probably null	Het
Zbbx	T	C	3: 75,085,041	I268V	probably benign	Het
Zbtb40	G	A	4: 137,007,097	P360S	probably damaging	Het
Zfp324	T	C	7: 12,971,306	L474P	probably damaging	Het
Zfp398	A	G	6: 47,840,252	T9A	probably benign	Het
Zfp692	A	C	11: 58,310,171	S293R	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
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'- CACCACACTTGAGAGAGCAG -3'
(R):5'- GAGTCAGACTAAGTTCCCTCCTG -3'

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

Posted On

2015-12-29