Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02372:Arc'

290956

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arc

Ensembl Gene

ENSMUSG00000022602

Gene Name

activity regulated cytoskeletal-associated protein

Synonyms

Arc3.1, arg 3.1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02372

Quality Score

Status

Chromosome

Chromosomal Location

74669083-74672570 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74672105 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 90 (S90P)

Ref Sequence

ENSEMBL: ENSMUSP00000105636 (fasta)

Predicted Effect

probably damaging
Transcript: ENSMUST00000023268
AA Change: S90P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000110009
AA Change: S90P

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

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous deletion of this gene results in embryonic lethality around E6.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	A	T	11: 97,775,699	Y54N	probably damaging	Het
Alyref	A	G	11: 120,594,875		probably benign	Het
Ankrd27	A	G	7: 35,633,036		probably null	Het
Atp6v1e1	T	A	6: 120,801,123	K150N	probably benign	Het
Atrn	T	C	2: 131,002,754		probably benign	Het
Ccnb1	A	G	13: 100,781,316	Y259H	probably damaging	Het
Celsr1	A	G	15: 85,929,907	V1938A	probably benign	Het
Ckmt2	A	G	13: 91,865,224	V37A	probably benign	Het
Dpys	G	T	15: 39,793,271	P467T	probably benign	Het
Ehbp1l1	T	C	19: 5,710,834	T1535A	possibly damaging	Het
Eif4enif1	T	C	11: 3,229,986	L302P	probably benign	Het
Faf1	T	G	4: 109,935,582	F584V	probably benign	Het
Glb1l2	G	A	9: 26,796,476	R72C	probably damaging	Het
Gm9892	T	C	8: 52,196,836		noncoding transcript	Het
Hecw1	G	T	13: 14,264,121	D892E	probably damaging	Het
Hr	A	G	14: 70,558,350	E474G	possibly damaging	Het
Ltbp1	T	G	17: 75,252,406	F297V	probably damaging	Het
Myc	A	G	15: 61,987,858	N127D	probably damaging	Het
Nbn	T	A	4: 15,986,613	N671K	probably benign	Het
Nup210l	C	A	3: 90,201,971	T1607N	possibly damaging	Het
Olfr281	A	T	15: 98,456,828	T173S	probably damaging	Het
Osbpl1a	T	A	18: 12,841,313	K22*	probably null	Het
Phf20l1	T	C	15: 66,641,801	L942P	probably damaging	Het
Plekhg5	C	T	4: 152,102,080	R40W	probably damaging	Het
Pomt2	C	T	12: 87,122,835		probably benign	Het
Rab3gap1	A	G	1: 127,919,561		probably benign	Het
Sbk1	T	C	7: 126,291,058	L81P	probably damaging	Het
Scrib	G	A	15: 76,048,255	P1524S	probably damaging	Het
Smpdl3a	T	A	10: 57,807,515	N240K	probably benign	Het
Smyd4	A	T	11: 75,390,285	K195*	probably null	Het
Tulp3	A	T	6: 128,327,598	M231K	possibly damaging	Het
Zfp87	A	G	13: 67,520,620		probably benign	Het

Other mutations in Arc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01778:Arc	APN	15	74672355	missense	probably benign
IGL03209:Arc	APN	15	74671984	missense	probably damaging	1.00
P0040:Arc	UTSW	15	74671339	missense	probably damaging	1.00
R0732:Arc	UTSW	15	74671195	missense	probably damaging	1.00
R1377:Arc	UTSW	15	74672252	missense	possibly damaging	0.51
R2430:Arc	UTSW	15	74671891	missense	probably benign	0.01
R4647:Arc	UTSW	15	74671525	missense	probably damaging	1.00
R4855:Arc	UTSW	15	74671743	missense	probably benign	0.01
R6436:Arc	UTSW	15	74672249	missense	possibly damaging	0.47
R6743:Arc	UTSW	15	74671787	missense	probably benign
R8678:Arc	UTSW	15	74671690	missense	probably damaging	1.00
RF003:Arc	UTSW	15	74672131	missense	probably benign	0.00

Posted On

2015-04-16