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

Mllt2h, 9630032B01Rik, Af4, Rob

MMRRC Submission

045501-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.346) question?

Stock #

R7423 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103840307-104003188 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103994967 bp (GRCm39)

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: 57,175,257 (GRCm39)	M85K	probably benign	Het
Actn4	C	T	7: 28,593,680 (GRCm39)	A905T	probably damaging	Het
Aox3	A	G	1: 58,160,228 (GRCm39)	E137G	possibly damaging	Het
Apaf1	A	T	10: 90,895,468 (GRCm39)	D443E	probably damaging	Het
Arl5b	C	A	2: 15,072,983 (GRCm39)	A28E	probably damaging	Het
Atg16l1	T	C	1: 87,714,023 (GRCm39)	V478A	probably damaging	Het
Atp6v1f	G	C	6: 29,468,105 (GRCm39)	E13Q	probably null	Het
Atpaf1	A	T	4: 115,647,827 (GRCm39)	K162M	probably damaging	Het
C3	A	T	17: 57,521,767 (GRCm39)	L1100Q	probably damaging	Het
Ccr1	A	G	9: 123,764,422 (GRCm39)	L36P	probably damaging	Het
Cct3	T	C	3: 88,216,503 (GRCm39)	L153S	probably benign	Het
Chd4	A	G	6: 125,105,822 (GRCm39)	D1813G	possibly damaging	Het
Chrm3	T	C	13: 9,928,845 (GRCm39)	I64V	probably benign	Het
Cnot2	A	T	10: 116,328,303 (GRCm39)	V477E	probably damaging	Het
Csf2rb2	T	A	15: 78,176,760 (GRCm39)	I211F	possibly damaging	Het
Dnah8	T	C	17: 30,923,743 (GRCm39)	L1237P	possibly damaging	Het
Dnttip2	T	C	3: 122,069,175 (GRCm39)	V130A	probably benign	Het
Dock10	G	A	1: 80,501,497 (GRCm39)	A1852V	possibly damaging	Het
Dock3	A	G	9: 106,844,370 (GRCm39)	V910A	probably damaging	Het
Drgx	A	G	14: 32,350,778 (GRCm39)	S205G	probably damaging	Het
Fbrs	G	A	7: 127,088,633 (GRCm39)	W738*	probably null	Het
Fmnl3	T	A	15: 99,227,281 (GRCm39)	D162V	probably damaging	Het
Fosl2	A	G	5: 32,307,807 (GRCm39)	R133G	probably damaging	Het
Frmpd1	A	G	4: 45,256,948 (GRCm39)	Q172R	probably damaging	Het
Fsd1l	A	T	4: 53,686,406 (GRCm39)	D273V	probably damaging	Het
Fstl4	T	A	11: 52,959,382 (GRCm39)	M141K	possibly damaging	Het
Gcfc2	A	G	6: 81,923,541 (GRCm39)	D535G	probably damaging	Het
Gm19410	A	C	8: 36,271,761 (GRCm39)	D1277A	probably benign	Het
Gnmt	T	A	17: 47,037,066 (GRCm39)	N211Y	probably damaging	Het
Hic2	A	G	16: 17,075,993 (GRCm39)	D274G	probably damaging	Het
Hnrnpu	A	G	1: 178,156,849 (GRCm39)		probably benign	Het
Icam5	T	C	9: 20,948,201 (GRCm39)	S670P	probably benign	Het
Ighv5-4	A	T	12: 113,561,120 (GRCm39)	L100Q	probably damaging	Het
Il17rb	A	T	14: 29,719,072 (GRCm39)	S337T	probably damaging	Het
Inf2	G	T	12: 112,576,172 (GRCm39)	R883L	unknown	Het
Inhbc	C	T	10: 127,193,275 (GRCm39)	C247Y	probably damaging	Het
Ints4	A	G	7: 97,156,926 (GRCm39)	K333E	probably damaging	Het
Iyd	A	T	10: 3,497,088 (GRCm39)	I148F	probably damaging	Het
Klk1b26	A	T	7: 43,664,193 (GRCm39)	D16V	probably damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Lama2	A	T	10: 27,088,222 (GRCm39)	S852T	probably benign	Het
Mbtd1	A	G	11: 93,834,622 (GRCm39)	E600G	probably benign	Het
Mfap3	T	G	11: 57,420,329 (GRCm39)	N103K	probably damaging	Het
Mtor	G	A	4: 148,640,801 (GRCm39)	E2536K	possibly damaging	Het
Mug2	G	A	6: 122,056,685 (GRCm39)	S1210N	probably benign	Het
Nat8	G	A	6: 85,807,477 (GRCm39)	L219F	probably benign	Het
Nisch	A	G	14: 30,893,658 (GRCm39)	V1305A	probably benign	Het
Nup153	A	T	13: 46,850,120 (GRCm39)		probably null	Het
Or3a1b	G	A	11: 74,012,811 (GRCm39)	R232H	probably benign	Het
Otud6b	A	T	4: 14,825,858 (GRCm39)		probably null	Het
Pbld2	A	G	10: 62,883,783 (GRCm39)	T83A	probably damaging	Het
Pcx	A	T	19: 4,671,206 (GRCm39)	M1144L	probably benign	Het
Pdpk1	C	A	17: 24,329,874 (GRCm39)	R81L	probably benign	Het
Pik3cd	A	T	4: 149,736,220 (GRCm39)		probably null	Het
Plch2	A	C	4: 155,068,194 (GRCm39)	D1477E	probably damaging	Het
Plek2	A	G	12: 78,946,884 (GRCm39)	I51T	probably damaging	Het
Plekhn1	A	G	4: 156,315,142 (GRCm39)	V505A	probably benign	Het
Pofut2	T	C	10: 77,098,273 (GRCm39)	S129P	possibly damaging	Het
Prdx5	C	A	19: 6,887,370 (GRCm39)		probably benign	Het
Proca1	G	T	11: 78,085,643 (GRCm39)		probably benign	Het
Ptprs	A	C	17: 56,721,793 (GRCm39)	Y1752D	probably damaging	Het
Pum1	G	A	4: 130,501,856 (GRCm39)	V1127M	probably damaging	Het
Ralbp1	T	C	17: 66,165,976 (GRCm39)	R403G	probably damaging	Het
Reps1	A	T	10: 17,969,635 (GRCm39)	H246L	possibly damaging	Het
Rps6kc1	A	C	1: 190,531,293 (GRCm39)	M903R	probably damaging	Het
Rubcnl	A	G	14: 75,287,083 (GRCm39)	T584A	probably benign	Het
Samd9l	A	T	6: 3,374,408 (GRCm39)	V951E	probably damaging	Het
Sbf2	A	G	7: 110,038,055 (GRCm39)	F463L	possibly damaging	Het
Sdr16c6	G	A	4: 4,076,921 (GRCm39)		probably benign	Het
Shoc1	A	T	4: 59,076,264 (GRCm39)	S560T	probably benign	Het
Slc26a8	A	G	17: 28,867,177 (GRCm39)	I548T	probably benign	Het
Slc2a13	T	A	15: 91,456,883 (GRCm39)	I140F	probably damaging	Het
Smtn	A	T	11: 3,481,200 (GRCm39)		probably null	Het
Sobp	G	T	10: 42,898,564 (GRCm39)	C340*	probably null	Het
Sox6	A	T	7: 115,149,258 (GRCm39)	V413E	probably benign	Het
Spin1	T	C	13: 51,277,326 (GRCm39)		probably null	Het
Sra1	T	C	18: 36,800,536 (GRCm39)	T224A	probably benign	Het
Sv2c	A	T	13: 96,185,056 (GRCm39)	F207Y	probably benign	Het
Tcp10c	T	A	17: 13,581,503 (GRCm39)		probably null	Het
Tkt	G	A	14: 30,292,992 (GRCm39)	G490S	possibly damaging	Het
Tpgs1	G	T	10: 79,511,655 (GRCm39)	A266S	probably damaging	Het
Tprg1	T	G	16: 25,241,003 (GRCm39)	S260A	probably damaging	Het
Trdv2-1	T	A	14: 54,183,935 (GRCm39)	W56R	probably damaging	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Trpc4	T	A	3: 54,225,450 (GRCm39)	V933E	probably benign	Het
Ulk4	A	T	9: 120,932,687 (GRCm39)	M1051K	possibly damaging	Het
Unc119b	A	G	5: 115,272,743 (GRCm39)	L76P	probably damaging	Het
Vmn2r15	G	A	5: 109,445,394 (GRCm39)	S10F	probably benign	Het
Vwce	A	G	19: 10,641,704 (GRCm39)	E810G	probably benign	Het
Wdr7	T	A	18: 63,910,451 (GRCm39)		probably null	Het
Wnk2	T	A	13: 49,191,608 (GRCm39)	E1283V	probably benign	Het
Zfp28	T	C	7: 6,396,956 (GRCm39)	C464R	probably damaging	Het
Zpld1	C	T	16: 55,054,027 (GRCm39)	C255Y	probably damaging	Het

Other mutations in Aff1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Aff1	APN	5	103,931,943 (GRCm39)	missense	probably damaging	1.00
IGL02060:Aff1	APN	5	103,931,715 (GRCm39)	missense	possibly damaging	0.51
IGL02081:Aff1	APN	5	103,982,171 (GRCm39)	missense	probably damaging	1.00
IGL02108:Aff1	APN	5	103,958,975 (GRCm39)	critical splice donor site	probably null
IGL03056:Aff1	APN	5	103,958,947 (GRCm39)	missense	probably damaging	0.99
IGL03332:Aff1	APN	5	103,988,971 (GRCm39)	nonsense	probably null
IGL03340:Aff1	APN	5	103,931,670 (GRCm39)	missense	possibly damaging	0.76
IGL03382:Aff1	APN	5	103,988,926 (GRCm39)	missense	possibly damaging	0.86
PIT4495001:Aff1	UTSW	5	103,997,391 (GRCm39)	missense	probably benign	0.16
R0013:Aff1	UTSW	5	103,976,350 (GRCm39)	nonsense	probably null
R0219:Aff1	UTSW	5	103,958,906 (GRCm39)	splice site	probably benign
R0520:Aff1	UTSW	5	103,995,617 (GRCm39)	nonsense	probably null
R0607:Aff1	UTSW	5	103,976,320 (GRCm39)	missense	probably damaging	1.00
R0883:Aff1	UTSW	5	103,974,004 (GRCm39)	splice site	probably benign
R1662:Aff1	UTSW	5	103,988,923 (GRCm39)	missense	probably damaging	0.99
R1730:Aff1	UTSW	5	103,981,378 (GRCm39)	missense	probably damaging	1.00
R1850:Aff1	UTSW	5	103,981,773 (GRCm39)	missense	probably damaging	1.00
R3411:Aff1	UTSW	5	103,902,572 (GRCm39)	start codon destroyed	probably null	0.53
R4007:Aff1	UTSW	5	103,932,088 (GRCm39)	missense	probably benign	0.15
R4207:Aff1	UTSW	5	103,966,854 (GRCm39)	critical splice donor site	probably null
R4702:Aff1	UTSW	5	103,958,935 (GRCm39)	missense	probably damaging	1.00
R4730:Aff1	UTSW	5	103,990,939 (GRCm39)	missense	possibly damaging	0.95
R4784:Aff1	UTSW	5	103,994,905 (GRCm39)	nonsense	probably null
R5166:Aff1	UTSW	5	103,902,523 (GRCm39)	start gained	probably benign
R5294:Aff1	UTSW	5	103,959,023 (GRCm39)	intron	probably benign
R5435:Aff1	UTSW	5	103,902,198 (GRCm39)	unclassified	probably benign
R5436:Aff1	UTSW	5	103,931,736 (GRCm39)	missense	probably damaging	1.00
R6065:Aff1	UTSW	5	103,990,118 (GRCm39)	missense	probably damaging	1.00
R6114:Aff1	UTSW	5	103,990,163 (GRCm39)	missense	probably damaging	0.97
R6298:Aff1	UTSW	5	103,902,586 (GRCm39)	missense	possibly damaging	0.68
R7095:Aff1	UTSW	5	103,990,951 (GRCm39)	missense	probably damaging	0.97
R7261:Aff1	UTSW	5	103,976,245 (GRCm39)	missense	probably damaging	0.97
R7350:Aff1	UTSW	5	103,994,958 (GRCm39)	missense	probably benign	0.28
R7469:Aff1	UTSW	5	103,981,413 (GRCm39)	missense	probably benign	0.00
R7604:Aff1	UTSW	5	103,995,675 (GRCm39)	missense	probably benign	0.09
R7607:Aff1	UTSW	5	103,997,325 (GRCm39)	missense	possibly damaging	0.72
R8014:Aff1	UTSW	5	103,981,735 (GRCm39)	missense	possibly damaging	0.82
R8219:Aff1	UTSW	5	103,994,199 (GRCm39)	missense	probably damaging	1.00
R8315:Aff1	UTSW	5	103,958,956 (GRCm39)	missense	probably damaging	0.99
R8837:Aff1	UTSW	5	103,982,078 (GRCm39)	missense	possibly damaging	0.77
R8957:Aff1	UTSW	5	103,981,634 (GRCm39)	missense	possibly damaging	0.82
R9159:Aff1	UTSW	5	103,990,131 (GRCm39)	missense	possibly damaging	0.89
R9377:Aff1	UTSW	5	103,981,685 (GRCm39)	missense	probably damaging	0.96
R9381:Aff1	UTSW	5	103,981,733 (GRCm39)	missense	possibly damaging	0.85
R9705:Aff1	UTSW	5	103,932,276 (GRCm39)	missense	possibly damaging	0.88
R9725:Aff1	UTSW	5	103,994,931 (GRCm39)	missense	probably damaging	0.99
R9764:Aff1	UTSW	5	103,997,365 (GRCm39)	missense	probably damaging	1.00
Z1177:Aff1	UTSW	5	103,931,619 (GRCm39)	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