Mutagenetix > Incidental Mutation

Incidental Mutation 'R7423:Aff1'

575814

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 #

R7423 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103692374-103855322 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103847101 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1055 (V1055D)

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: V1063D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031256
Gene: ENSMUSG00000029313
AA Change: V1063D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000054979
AA Change: V1055D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000059744
Gene: ENSMUSG00000029313
AA Change: V1055D

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: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

96% (91/95)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg2	A	T	17: 56,868,257	M85K	probably benign	Het
Actn4	C	T	7: 28,894,255	A905T	probably damaging	Het
AI481877	A	T	4: 59,076,264	S560T	probably benign	Het
Aox3	A	G	1: 58,121,069	E137G	possibly damaging	Het
Apaf1	A	T	10: 91,059,606	D443E	probably damaging	Het
Arl5b	C	A	2: 15,068,172	A28E	probably damaging	Het
Atg16l1	T	C	1: 87,786,301	V478A	probably damaging	Het
Atp6v1f	G	C	6: 29,468,106	E13Q	probably null	Het
Atpaf1	A	T	4: 115,790,630	K162M	probably damaging	Het
C3	A	T	17: 57,214,767	L1100Q	probably damaging	Het
Ccr1	A	G	9: 123,964,385	L36P	probably damaging	Het
Cct3	T	C	3: 88,309,196	L153S	probably benign	Het
Chd4	A	G	6: 125,128,859	D1813G	possibly damaging	Het
Chrm3	T	C	13: 9,878,809	I64V	probably benign	Het
Cnot2	A	T	10: 116,492,398	V477E	probably damaging	Het
Csf2rb2	T	A	15: 78,292,560	I211F	possibly damaging	Het
Dnah8	T	C	17: 30,704,769	L1237P	possibly damaging	Het
Dnttip2	T	C	3: 122,275,526	V130A	probably benign	Het
Dock10	G	A	1: 80,523,780	A1852V	possibly damaging	Het
Dock3	A	G	9: 106,967,171	V910A	probably damaging	Het
Fbrs	G	A	7: 127,489,461	W738*	probably null	Het
Fmnl3	T	A	15: 99,329,400	D162V	probably damaging	Het
Fosl2	A	G	5: 32,150,463	R133G	probably damaging	Het
Frmpd1	A	G	4: 45,256,948	Q172R	probably damaging	Het
Fsd1l	A	T	4: 53,686,406	D273V	probably damaging	Het
Fstl4	T	A	11: 53,068,555	M141K	possibly damaging	Het
Gcfc2	A	G	6: 81,946,560	D535G	probably damaging	Het
Gm19410	A	C	8: 35,804,607	D1277A	probably benign	Het
Gnmt	T	A	17: 46,726,140	N211Y	probably damaging	Het
Hic2	A	G	16: 17,258,129	D274G	probably damaging	Het
Hnrnpu	A	G	1: 178,329,284		probably benign	Het
Icam5	T	C	9: 21,036,905	S670P	probably benign	Het
Ighv5-4	A	T	12: 113,597,500	L100Q	probably damaging	Het
Il17rb	A	T	14: 29,997,115	S337T	probably damaging	Het
Inf2	G	T	12: 112,609,738	R883L	unknown	Het
Inhbc	C	T	10: 127,357,406	C247Y	probably damaging	Het
Ints4	A	G	7: 97,507,719	K333E	probably damaging	Het
Iyd	A	T	10: 3,547,088	I148F	probably damaging	Het
Klk1b26	A	T	7: 44,014,769	D16V	probably damaging	Het
Krt15	A	T	11: 100,135,560	V100E	possibly damaging	Het
Lama2	A	T	10: 27,212,226	S852T	probably benign	Het
Mbtd1	A	G	11: 93,943,796	E600G	probably benign	Het
Mfap3	T	G	11: 57,529,503	N103K	probably damaging	Het
Mtor	G	A	4: 148,556,344	E2536K	possibly damaging	Het
Mug2	G	A	6: 122,079,726	S1210N	probably benign	Het
Nat8	G	A	6: 85,830,495	L219F	probably benign	Het
Nisch	A	G	14: 31,171,701	V1305A	probably benign	Het
Nup153	A	T	13: 46,696,644		probably null	Het
Olfr401	G	A	11: 74,121,985	R232H	probably benign	Het
Otud6b	A	T	4: 14,825,858		probably null	Het
Pbld2	A	G	10: 63,048,004	T83A	probably damaging	Het
Pcx	A	T	19: 4,621,178	M1144L	probably benign	Het
Pdpk1	C	A	17: 24,110,900	R81L	probably benign	Het
Pik3cd	A	T	4: 149,651,763		probably null	Het
Plch2	A	C	4: 154,983,737	D1477E	probably damaging	Het
Plek2	A	G	12: 78,900,110	I51T	probably damaging	Het
Plekhn1	A	G	4: 156,230,685	V505A	probably benign	Het
Pofut2	T	C	10: 77,262,439	S129P	possibly damaging	Het
Prdx5	C	A	19: 6,910,002		probably benign	Het
Proca1	G	T	11: 78,194,817		probably benign	Het
Prrxl1	A	G	14: 32,628,821	S205G	probably damaging	Het
Ptprs	A	C	17: 56,414,793	Y1752D	probably damaging	Het
Pum1	G	A	4: 130,774,545	V1127M	probably damaging	Het
Ralbp1	T	C	17: 65,858,981	R403G	probably damaging	Het
Reps1	A	T	10: 18,093,887	H246L	possibly damaging	Het
Rps6kc1	A	C	1: 190,799,096	M903R	probably damaging	Het
Rubcnl	A	G	14: 75,049,643	T584A	probably benign	Het
Samd9l	A	T	6: 3,374,408	V951E	probably damaging	Het
Sbf2	A	G	7: 110,438,848	F463L	possibly damaging	Het
Sdr16c6	G	A	4: 4,076,921		probably benign	Het
Slc26a8	A	G	17: 28,648,203	I548T	probably benign	Het
Slc2a13	T	A	15: 91,572,680	I140F	probably damaging	Het
Smtn	A	T	11: 3,531,200		probably null	Het
Sobp	G	T	10: 43,022,568	C340*	probably null	Het
Sox6	A	T	7: 115,550,023	V413E	probably benign	Het
Spin1	T	C	13: 51,123,290		probably null	Het
Sra1	T	C	18: 36,667,483	T224A	probably benign	Het
Sv2c	A	T	13: 96,048,548	F207Y	probably benign	Het
Tcp10c	T	A	17: 13,361,241		probably null	Het
Tcrg-V6	G	T	13: 19,190,644	G40W	possibly damaging	Het
Tkt	G	A	14: 30,571,035	G490S	possibly damaging	Het
Tpgs1	G	T	10: 79,675,821	A266S	probably damaging	Het
Tprg	T	G	16: 25,422,253	S260A	probably damaging	Het
Trdv2-1	T	A	14: 53,946,478	W56R	probably damaging	Het
Trpc4	T	A	3: 54,318,029	V933E	probably benign	Het
Ulk4	A	T	9: 121,103,621	M1051K	possibly damaging	Het
Unc119b	A	G	5: 115,134,684	L76P	probably damaging	Het
Vmn2r15	G	A	5: 109,297,528	S10F	probably benign	Het
Vwce	A	G	19: 10,664,340	E810G	probably benign	Het
Wdr7	T	A	18: 63,777,380		probably null	Het
Wnk2	T	A	13: 49,038,132	E1283V	probably benign	Het
Zfp28	T	C	7: 6,393,957	C464R	probably damaging	Het
Zpld1	C	T	16: 55,233,664	C255Y	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
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'- GGCATGTGGTTGCTCTTAAC -3'
(R):5'- CAGACTAAGTTCCCTCCTGC -3'

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

Posted On

2019-10-07