Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03116:Aff2'

419420

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aff2

Ensembl Gene

ENSMUSG00000031189

Gene Name

AF4/FMR2 family, member 2

Synonyms

Ox19, Fmr2, Oxh

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.244) question?

Stock #

IGL03116

Quality Score

Status

Chromosome

Chromosomal Location

68403900-68911643 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68878092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 626 (V626A)

Ref Sequence

ENSEMBL: ENSMUSP00000033532 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033532]

AlphaFold

O55112

Predicted Effect

probably benign
Transcript: ENSMUST00000033532
AA Change: V626A

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000033532
Gene: ENSMUSG00000031189
AA Change: V626A

Domain	Start	End	E-Value	Type
Pfam:AF-4	18	372	2.3e-108	PFAM
Pfam:AF-4	363	1269	3.4e-265	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired conditioned fear responses and enhanced long-term potentiation in hippocampal slices. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810030O07Rik	T	C	X: 12,535,892 (GRCm39)		probably benign	Het
9530068E07Rik	A	G	11: 52,294,331 (GRCm39)	I199V	probably benign	Het
Aasdh	A	T	5: 77,049,936 (GRCm39)		probably null	Het
Aatk	T	C	11: 119,907,577 (GRCm39)	I84V	probably benign	Het
Adcy1	A	G	11: 7,100,071 (GRCm39)	H727R	probably benign	Het
Ano2	C	A	6: 125,957,134 (GRCm39)	Y634*	probably null	Het
Apob	C	A	12: 8,066,350 (GRCm39)	Q4407K	probably damaging	Het
Asz1	T	C	6: 18,076,642 (GRCm39)		probably benign	Het
Atp2b4	T	G	1: 133,656,506 (GRCm39)	T715P	possibly damaging	Het
Brip1	G	T	11: 85,955,735 (GRCm39)	S926*	probably null	Het
Cpd	A	T	11: 76,702,539 (GRCm39)	Y610N	probably damaging	Het
Dennd4c	T	C	4: 86,707,057 (GRCm39)		probably benign	Het
Dido1	G	A	2: 180,312,772 (GRCm39)	T1041I	probably damaging	Het
Dpp8	A	T	9: 64,973,749 (GRCm39)	T658S	probably damaging	Het
Efcab3	T	A	11: 104,612,359 (GRCm39)	S661T	probably benign	Het
Fcer1a	G	A	1: 173,049,128 (GRCm39)	Q172*	probably null	Het
Frem3	A	G	8: 81,339,435 (GRCm39)	E576G	possibly damaging	Het
Gcsam	T	C	16: 45,440,431 (GRCm39)	F136S	possibly damaging	Het
Glmn	T	G	5: 107,698,949 (GRCm39)	T430P	probably damaging	Het
Gm5934	T	C	X: 24,340,931 (GRCm39)	N194S	probably benign	Het
Gpatch11	T	A	17: 79,151,282 (GRCm39)	L231*	probably null	Het
Hibadh	A	T	6: 52,525,917 (GRCm39)	N244K	probably damaging	Het
Kank2	A	G	9: 21,684,060 (GRCm39)	V723A	probably damaging	Het
Kcnn2	A	T	18: 45,788,273 (GRCm39)	D192V	probably damaging	Het
Ksr2	G	A	5: 117,846,022 (GRCm39)	E630K	probably benign	Het
Lmod3	T	C	6: 97,224,156 (GRCm39)	H555R	possibly damaging	Het
Mycs	A	G	X: 5,380,922 (GRCm39)	F53L	probably damaging	Het
Ndufa10	G	A	1: 92,392,109 (GRCm39)	Q215*	probably null	Het
Ninl	C	T	2: 150,806,139 (GRCm39)	A361T	probably damaging	Het
Pbsn	A	G	X: 76,891,624 (GRCm39)	C58R	probably damaging	Het
Pcsk1	T	A	13: 75,280,335 (GRCm39)	L720Q	probably damaging	Het
Prss12	T	C	3: 123,299,925 (GRCm39)	F679L	probably benign	Het
Sohlh1	C	T	2: 25,735,660 (GRCm39)		probably null	Het
Sspo	T	C	6: 48,471,035 (GRCm39)	F701L	probably benign	Het
Tdp1	T	C	12: 99,921,290 (GRCm39)	S609P	probably benign	Het
Tmtc4	T	A	14: 123,165,044 (GRCm39)	N605I	probably benign	Het
Tnc	G	A	4: 63,932,270 (GRCm39)	P715S	probably damaging	Het
Ubn2	T	C	6: 38,468,834 (GRCm39)	S1181P	probably damaging	Het
Ubr4	T	C	4: 139,206,892 (GRCm39)		probably benign	Het
Vmn1r46	T	C	6: 89,953,898 (GRCm39)	F249S	probably benign	Het
Zfp382	T	C	7: 29,833,614 (GRCm39)	S422P	probably damaging	Het

Other mutations in Aff2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00670:Aff2	APN	X	68,588,199 (GRCm39)	missense	possibly damaging	0.61
IGL01373:Aff2	APN	X	68,911,335 (GRCm39)	missense	possibly damaging	0.84
IGL02253:Aff2	APN	X	68,874,397 (GRCm39)	missense	probably benign	0.00
IGL02614:Aff2	APN	X	68,907,693 (GRCm39)	missense	possibly damaging	0.92
IGL03184:Aff2	APN	X	68,810,840 (GRCm39)	missense	possibly damaging	0.82
H8562:Aff2	UTSW	X	68,892,532 (GRCm39)	missense	unknown
LCD18:Aff2	UTSW	X	68,791,141 (GRCm39)	intron	probably benign
R0190:Aff2	UTSW	X	68,892,711 (GRCm39)	frame shift	probably null
R0481:Aff2	UTSW	X	68,878,248 (GRCm39)	missense	probably damaging	1.00
R0554:Aff2	UTSW	X	68,907,680 (GRCm39)	missense	possibly damaging	0.85
R2253:Aff2	UTSW	X	68,878,409 (GRCm39)	missense	possibly damaging	0.84
R3236:Aff2	UTSW	X	68,907,543 (GRCm39)	missense	possibly damaging	0.93
R3237:Aff2	UTSW	X	68,907,543 (GRCm39)	missense	possibly damaging	0.93

Posted On

2016-08-02