Mutagenetix > Incidental Mutation

Incidental Mutation 'R8315:Aff1'

641627

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 #

R8315 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103692374-103855322 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 103811090 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 342 (V342F)

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: V350F

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

SMART Domains

Protein: ENSMUSP00000031256
Gene: ENSMUSG00000029313
AA Change: V350F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000054979
AA Change: V342F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000059744
Gene: ENSMUSG00000029313
AA Change: V342F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000153165
AA Change: V350F

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

SMART Domains

Protein: ENSMUSP00000119631
Gene: ENSMUSG00000029313
AA Change: V350F

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: 98.7%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	C	A	17: 33,067,064	A255S	probably benign	Het
4930402H24Rik	ATCCTCCTCCTCCTCCTCC	ATCCTCCTCCTCCTCC	2: 130,770,735		probably benign	Het
Abca13	A	T	11: 9,378,460	E3511V	probably null	Het
Abca13	A	G	11: 9,585,502	T4709A	probably benign	Het
Ahnak2	T	A	12: 112,781,133	Q1698L		Het
Ajap1	G	T	4: 153,432,356	T176K	probably damaging	Het
Cct3	A	G	3: 88,313,257	T259A	probably benign	Het
Cdk8	C	T	5: 146,268,251	L21F	probably damaging	Het
Csf2rb	G	A	15: 78,347,381	G494D	possibly damaging	Het
Cstf3	G	T	2: 104,590,581		probably benign	Het
Cyp4f39	A	G	17: 32,482,202	D222G	probably benign	Het
Dcp2	T	C	18: 44,396,004	I62T	probably benign	Het
Dpp8	T	C	9: 65,080,851	*893Q	probably null	Het
Dpyd	A	T	3: 119,314,885	H859L	probably benign	Het
Dst	T	C	1: 34,284,420		probably null	Het
Egfr	A	G	11: 16,875,027	I456V	probably benign	Het
Elf3	A	G	1: 135,256,576	F185L	probably benign	Het
Emx1	A	G	6: 85,194,106	T164A	possibly damaging	Het
Fam150b	G	T	12: 30,884,851	G23V	probably damaging	Het
Fam212a	C	A	9: 107,984,307	S270I	probably damaging	Het
Fras1	G	A	5: 96,743,182	V2857M	probably damaging	Het
Gba2	AAAGAACCGTGTATACCGCCTGGGATGGAAAGAA	AAA	4: 43,569,937		probably null	Het
Gda	T	A	19: 21,417,071	T215S	probably benign	Het
Gm14443	C	T	2: 175,171,847		probably null	Het
Gm3448	A	G	17: 14,970,455	Y81H	probably damaging	Het
Gpr152	C	T	19: 4,143,470	P337S	probably damaging	Het
H2-T10	A	G	17: 36,119,013	I296T	probably benign	Het
Hoxd11	G	A	2: 74,683,122	E244K	probably benign	Het
Kazn	C	T	4: 142,141,691	D325N		Het
Lama2	T	C	10: 27,422,659	N147S	probably damaging	Het
Lamc1	A	T	1: 153,243,421	N817K	probably benign	Het
Met	T	C	6: 17,533,957	S636P	probably damaging	Het
Mrgpra3	A	T	7: 47,601,303	M1K	probably null	Het
Myh15	C	A	16: 49,120,018	T777N	probably damaging	Het
Olfr1123	C	A	2: 87,418,651	A201D	probably damaging	Het
Olfr799	G	A	10: 129,647,653	C175Y	probably benign	Het
Olfr891	T	C	9: 38,180,209	T205A	probably benign	Het
Pbx2	A	G	17: 34,592,733	I60M	probably damaging	Het
Pla2g4a	T	C	1: 149,886,214	N164S	probably benign	Het
Poln	A	G	5: 34,109,373	M480T	probably benign	Het
Ppp2r2a	T	C	14: 67,023,728	N181S	probably damaging	Het
Ppp3r2	A	C	4: 49,681,705	F82V	probably damaging	Het
Prox2	A	G	12: 85,095,408	V7A	probably benign	Het
Ptpn3	A	T	4: 57,270,063	I33K	possibly damaging	Het
Rad21l	A	T	2: 151,655,240	M318K	probably benign	Het
Rftn1	A	G	17: 50,002,637	S445P	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,923		probably benign	Het
Rtp4	C	T	16: 23,613,248	P177S	possibly damaging	Het
Saa4	T	A	7: 46,729,628	N96I	possibly damaging	Het
Shb	A	G	4: 45,489,079	Y266H	probably damaging	Het
Slc45a4	T	G	15: 73,589,556	Y88S	probably damaging	Het
Tbccd1	A	G	16: 22,822,814	M312T	probably damaging	Het
Tecta	C	T	9: 42,387,825		probably null	Het
Tex33	T	C	15: 78,378,486	R262G	probably benign	Het
Tle1	A	T	4: 72,126,191	C526*	probably null	Het
Tmem87a	C	T	2: 120,403,960	G34D	probably damaging	Het
Trav13d-1	C	A	14: 52,851,602	Q23K	probably benign	Het
Txndc11	G	T	16: 11,075,601	T755N	possibly damaging	Het
Vmn1r223	A	G	13: 23,250,169	D311G	probably damaging	Het
Vmn2r66	T	A	7: 84,994,724	Y826F	possibly damaging	Het
Wdr90	A	T	17: 25,845,425	M1824K	probably benign	Het
Zfp523	G	A	17: 28,202,588	G440D	possibly 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
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'- CTCTTCCCCAAGATGAAGTCG -3'
(R):5'- AAGCCTGGTACTGTCCATGC -3'

Sequencing Primer
(F):5'- CCCAAGATGAAGTCGGTGTTTCC -3'
(R):5'- GTCCATGCTATGCCCATTGAGG -3'

Posted On

2020-07-28