Mutagenetix > Incidental Mutation

Incidental Mutation 'R7261:Aff1'

564610

Institutional Source

Beutler Lab

Gene Symbol

Aff1

Ensembl Gene

ENSMUSG00000029313

Gene Name

AF4/FMR2 family, member 1

Synonyms

Mllt2h, 9630032B01Rik, Af4, Rob

MMRRC Submission

045387-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

R7261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103840307-104003188 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103976245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 448 (S448P)

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: S456P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031256
Gene: ENSMUSG00000029313
AA Change: S456P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000054979
AA Change: S448P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000059744
Gene: ENSMUSG00000029313
AA Change: S448P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000153165
AA Change: S456P

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

SMART Domains

Protein: ENSMUSP00000119631
Gene: ENSMUSG00000029313
AA Change: S456P

Domain	Start	End	E-Value	Type
Pfam:AF-4	16	871	N/A	PFAM

Meta Mutation Damage Score

0.1134

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

99% (84/85)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,259,526 (GRCm39)	F1954L	probably damaging	Het
Acmsd	T	G	1: 127,687,561 (GRCm39)	I281R	probably damaging	Het
Adamts2	A	T	11: 50,677,424 (GRCm39)	M742L	possibly damaging	Het
Adgrf4	G	A	17: 42,978,326 (GRCm39)	T339I	probably benign	Het
Agbl2	A	T	2: 90,619,288 (GRCm39)	S38C	possibly damaging	Het
Akap7	C	T	10: 25,147,416 (GRCm39)	D105N	possibly damaging	Het
Arhgap21	A	G	2: 20,885,177 (GRCm39)	F677L	probably benign	Het
Atf6b	G	T	17: 34,869,792 (GRCm39)	V271F	probably damaging	Het
B3gnt5	A	G	16: 19,588,123 (GRCm39)	Y114C	probably damaging	Het
Casp7	T	A	19: 56,424,765 (GRCm39)	D161E	probably benign	Het
Catsper4	TTCTC	TTC	4: 133,954,423 (GRCm39)		probably null	Het
Ccdc162	T	C	10: 41,437,136 (GRCm39)	T1758A	probably benign	Het
Cfap74	C	A	4: 155,549,831 (GRCm39)	P155T	unknown	Het
Champ1	A	G	8: 13,928,517 (GRCm39)	D225G	possibly damaging	Het
Chrng	A	T	1: 87,134,962 (GRCm39)		probably null	Het
Cnksr1	T	C	4: 133,963,084 (GRCm39)		probably null	Het
Col15a1	G	A	4: 47,269,088 (GRCm39)	G582D	probably benign	Het
Cwc25	A	G	11: 97,648,585 (GRCm39)	V81A	possibly damaging	Het
Ddhd1	A	G	14: 45,894,688 (GRCm39)	Y261H	probably damaging	Het
Defa29	A	G	8: 21,816,818 (GRCm39)		probably null	Het
Diaph3	A	C	14: 87,202,893 (GRCm39)	C666G	probably benign	Het
Dlx2	A	G	2: 71,375,019 (GRCm39)	Y282H	probably damaging	Het
Dsc3	A	T	18: 20,113,814 (GRCm39)	Y369*	probably null	Het
Dtwd1	A	G	2: 126,000,424 (GRCm39)	N120S	probably benign	Het
Dysf	G	A	6: 84,169,992 (GRCm39)	S1761N	probably damaging	Het
Enthd1	A	T	15: 80,444,416 (GRCm39)	N46K	probably damaging	Het
Epha7	T	A	4: 28,813,418 (GRCm39)	I12N	probably benign	Het
Fam171a2	T	A	11: 102,328,900 (GRCm39)	N620Y	probably damaging	Het
Garin4	T	C	1: 190,896,308 (GRCm39)	S112G	unknown	Het
Gfpt2	A	T	11: 49,714,078 (GRCm39)	E278D	possibly damaging	Het
Gm3285	A	G	10: 77,698,244 (GRCm39)	Q131R	unknown	Het
Gpcpd1	A	C	2: 132,410,619 (GRCm39)	C23G	probably damaging	Het
Gtpbp4	A	T	13: 9,037,954 (GRCm39)	H228Q	probably benign	Het
Hdac7	A	G	15: 97,704,415 (GRCm39)	V500A	probably benign	Het
Hykk	T	G	9: 54,828,010 (GRCm39)	M83R	possibly damaging	Het
Idi1	A	G	13: 8,936,931 (GRCm39)	I101V	probably benign	Het
Irs2	A	T	8: 11,057,018 (GRCm39)	H471Q	possibly damaging	Het
Itsn1	T	C	16: 91,702,194 (GRCm39)	V12A	probably benign	Het
Jak2	A	G	19: 29,288,385 (GRCm39)	I1079V	possibly damaging	Het
Kcnt2	G	A	1: 140,282,255 (GRCm39)	R80H	possibly damaging	Het
Lamb2	T	C	9: 108,358,496 (GRCm39)	Y178H	probably damaging	Het
Lgr5	A	T	10: 115,423,370 (GRCm39)	L10Q	possibly damaging	Het
Lnx1	G	T	5: 74,838,175 (GRCm39)	S29*	probably null	Het
Lpcat3	T	A	6: 124,675,050 (GRCm39)	F57I	probably benign	Het
Manf	T	C	9: 106,769,088 (GRCm39)	T4A	probably benign	Het
Map2k3	G	A	11: 60,836,393 (GRCm39)		probably null	Het
Myh14	G	A	7: 44,273,761 (GRCm39)	Q1329*	probably null	Het
Myocd	T	C	11: 65,078,422 (GRCm39)	S458G	probably damaging	Het
Ncor2	T	C	5: 125,187,143 (GRCm39)		probably null	Het
Ndufs8	A	T	19: 3,961,606 (GRCm39)	N23K	probably benign	Het
Nkx6-1	T	C	5: 101,812,006 (GRCm39)	K32R	unknown	Het
Nlrp3	T	G	11: 59,439,272 (GRCm39)	V283G	possibly damaging	Het
Nme3	A	G	17: 25,116,037 (GRCm39)		probably null	Het
Or1o3	A	G	17: 37,574,076 (GRCm39)	F160L	probably benign	Het
Or8g23	C	T	9: 38,971,504 (GRCm39)	V153M	possibly damaging	Het
Parvg	T	C	15: 84,215,297 (GRCm39)		probably null	Het
Peg10	T	A	6: 4,756,591 (GRCm39)	M389K	unknown	Het
Phf23	G	T	11: 69,890,091 (GRCm39)	C340F	possibly damaging	Het
Piwil2	A	G	14: 70,611,860 (GRCm39)	Y929H	probably damaging	Het
Prss39	A	G	1: 34,539,369 (GRCm39)	D203G	probably damaging	Het
Prss54	G	T	8: 96,286,367 (GRCm39)	D235E	probably benign	Het
Prtg	T	A	9: 72,815,117 (GRCm39)	M1015K	possibly damaging	Het
Rbbp8	T	C	18: 11,838,799 (GRCm39)	I160T	probably damaging	Het
Rxylt1	A	T	10: 121,924,822 (GRCm39)	D293E	probably benign	Het
Scn10a	C	A	9: 119,438,790 (GRCm39)	C1692F	probably damaging	Het
Scn11a	C	T	9: 119,648,899 (GRCm39)	D55N	probably damaging	Het
Secisbp2	G	T	13: 51,836,498 (GRCm39)	V768F	probably damaging	Het
Skic3	A	G	13: 76,261,698 (GRCm39)	T138A	probably benign	Het
Spag16	T	C	1: 70,338,780 (GRCm39)	I426T	possibly damaging	Het
Sspo	G	A	6: 48,427,011 (GRCm39)	V250M	possibly damaging	Het
Strbp	A	T	2: 37,531,149 (GRCm39)		probably null	Het
Sv2c	C	T	13: 96,224,809 (GRCm39)	V167M	probably damaging	Het
Tdpoz1	G	A	3: 93,577,794 (GRCm39)	S330L	not run	Het
Tigd2	T	A	6: 59,188,052 (GRCm39)	D306E	probably benign	Het
Trrap	C	T	5: 144,782,287 (GRCm39)	P3278S	possibly damaging	Het
Vdac1	A	T	11: 52,265,761 (GRCm39)	K28N	probably damaging	Het
Vmn1r84	A	T	7: 12,096,069 (GRCm39)	M208K	probably damaging	Het
Vmn2r77	A	T	7: 86,460,518 (GRCm39)	K615*	probably null	Het
Vps11	A	G	9: 44,265,800 (GRCm39)	L493P	probably damaging	Het
Zbtb21	T	C	16: 97,754,179 (GRCm39)	I35V	possibly damaging	Het
Zbtb26	A	T	2: 37,326,667 (GRCm39)	M123K	possibly damaging	Het
Zfp236	A	T	18: 82,627,470 (GRCm39)	D1576E	possibly 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
R7350:Aff1	UTSW	5	103,994,958 (GRCm39)	missense	probably benign	0.28
R7423:Aff1	UTSW	5	103,994,967 (GRCm39)	missense	probably damaging	1.00
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'- CATCTTTCAGGAGGGGAATACC -3'
(R):5'- TCCTGCCATCTTGCATAGCG -3'

Sequencing Primer
(F):5'- GTGACCACGATTCTAACACCTTGG -3'
(R):5'- CCATCTTGCATAGCGTTCTGGAG -3'

Posted On

2019-06-26