Mutagenetix > Incidental Mutation

Incidental Mutation 'R3237:Aff2'

259126

Institutional Source

Beutler Lab

Gene Symbol

Aff2

Ensembl Gene

ENSMUSG00000031189

Gene Name

AF4/FMR2 family, member 2

Synonyms

Ox19, Fmr2, Oxh

MMRRC Submission

040619-MU

Accession Numbers

Essential gene?

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

Stock #

R3237 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

68403900-68911643 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68907543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1175 (V1175E)

Ref Sequence

ENSEMBL: ENSMUSP00000033532 (fasta)

Gene Model

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

AlphaFold

O55112

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033532
AA Change: V1175E

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000033532
Gene: ENSMUSG00000031189
AA Change: V1175E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151662

Meta Mutation Damage Score

0.2045

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.4%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Agbl3	A	G	6: 34,800,022 (GRCm39)		probably null	Het
Bcar3	C	A	3: 122,318,645 (GRCm39)	Q678K	probably benign	Het
Ccm2	G	A	11: 6,520,090 (GRCm39)	V53I	probably benign	Het
Cd3e	G	T	9: 44,913,608 (GRCm39)	C42*	probably null	Het
Cd4	A	T	6: 124,844,633 (GRCm39)	I384N	probably benign	Het
Ceacam11	T	A	7: 17,707,379 (GRCm39)	F54L	probably benign	Het
Cfap46	A	G	7: 139,197,506 (GRCm39)	S2122P	probably damaging	Het
Clptm1	A	G	7: 19,369,271 (GRCm39)	S461P	probably damaging	Het
Dlat	T	C	9: 50,549,331 (GRCm39)	T518A	possibly damaging	Het
Dnah17	T	C	11: 117,985,680 (GRCm39)	T1466A	probably benign	Het
Dnah9	G	A	11: 65,845,815 (GRCm39)	T3023I	probably benign	Het
Fam181a	T	G	12: 103,282,348 (GRCm39)	C84W	possibly damaging	Het
Gask1a	C	T	9: 121,793,935 (GRCm39)	P30S	possibly damaging	Het
H2-Q6	C	A	17: 35,644,676 (GRCm39)	T155K	probably damaging	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Inpp5b	A	G	4: 124,674,279 (GRCm39)	R329G	probably benign	Het
Klrb1f	A	T	6: 129,031,306 (GRCm39)	I168L	possibly damaging	Het
Lama4	A	T	10: 38,973,175 (GRCm39)	I1581F	probably damaging	Het
Lipn	A	G	19: 34,046,138 (GRCm39)	N37S	probably benign	Het
Lyzl4	T	C	9: 121,413,233 (GRCm39)	D65G	probably benign	Het
Med29	A	G	7: 28,092,046 (GRCm39)		probably benign	Het
Myrip	C	A	9: 120,270,473 (GRCm39)	D574E	possibly damaging	Het
N4bp3	A	T	11: 51,536,761 (GRCm39)	F104Y	probably damaging	Het
Nlrp9a	A	T	7: 26,270,810 (GRCm39)	K892*	probably null	Het
Nsd1	T	A	13: 55,460,701 (GRCm39)	H2309Q	possibly damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Optn	T	C	2: 5,039,014 (GRCm39)	S370G	probably damaging	Het
Pbrm1	T	C	14: 30,754,432 (GRCm39)	F151L	probably damaging	Het
Plekhs1	A	T	19: 56,453,032 (GRCm39)		probably null	Het
Rpn1	A	G	6: 88,080,396 (GRCm39)	K565R	probably benign	Het
Rrh	T	C	3: 129,605,360 (GRCm39)	Y110C	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryr1	C	T	7: 28,769,075 (GRCm39)		probably null	Het
Scai	C	T	2: 39,040,326 (GRCm39)		probably benign	Het
Scap	C	G	9: 110,208,650 (GRCm39)	P564A	probably damaging	Het
Setdb1	A	G	3: 95,246,065 (GRCm39)	V619A	probably damaging	Het
Slc41a3	T	C	6: 90,613,847 (GRCm39)	Y226H	probably benign	Het
Slf2	A	G	19: 44,930,773 (GRCm39)	I617V	probably benign	Het
Sned1	G	A	1: 93,186,725 (GRCm39)	R180Q	probably benign	Het
Spata22	T	A	11: 73,236,713 (GRCm39)	F340I	probably damaging	Het
St8sia3	T	C	18: 64,402,886 (GRCm39)	F175S	probably damaging	Het
Supt20	T	C	3: 54,616,501 (GRCm39)	S253P	possibly damaging	Het
Syngap1	T	A	17: 27,176,067 (GRCm39)	Y118*	probably null	Het
Szt2	A	C	4: 118,240,231 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Uba3	G	T	6: 97,163,201 (GRCm39)	T319K	probably damaging	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Zc3hav1	A	G	6: 38,296,650 (GRCm39)	L751S	probably damaging	Het
Zfp804b	T	C	5: 6,819,239 (GRCm39)	M1275V	probably benign	Het
Zgrf1	A	G	3: 127,407,024 (GRCm39)	D1597G	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
IGL03116:Aff2	APN	X	68,878,092 (GRCm39)	missense	probably benign	0.23
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

Predicted Primers

PCR Primer
(F):5'- ACCAAAGAGATGTGGGCATTC -3'
(R):5'- AACTGCATCCTCATCCTTAGG -3'

Sequencing Primer
(F):5'- GTGGGCATTCATATGAAGTTTCACAC -3'
(R):5'- TGCATCCTCATCCTTAGGCAAAG -3'

Posted On

2015-01-23