Mutagenetix > Incidental Mutation

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

arg 3.1, Arc3.1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02372

Quality Score

Status

Chromosome

Chromosomal Location

74540932-74544419 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74543954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 90 (S90P)

Ref Sequence

ENSEMBL: ENSMUSP00000105636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023268] [ENSMUST00000110009]

AlphaFold

Q9WV31

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
Alyref	A	G	11: 120,485,701 (GRCm39)		probably benign	Het
Ankrd27	A	G	7: 35,332,461 (GRCm39)		probably null	Het
Atp6v1e1	T	A	6: 120,778,084 (GRCm39)	K150N	probably benign	Het
Atrn	T	C	2: 130,844,674 (GRCm39)		probably benign	Het
Ccnb1	A	G	13: 100,917,824 (GRCm39)	Y259H	probably damaging	Het
Celsr1	A	G	15: 85,814,108 (GRCm39)	V1938A	probably benign	Het
Ckmt2	A	G	13: 92,013,343 (GRCm39)	V37A	probably benign	Het
Dpys	G	T	15: 39,656,667 (GRCm39)	P467T	probably benign	Het
Ehbp1l1	T	C	19: 5,760,862 (GRCm39)	T1535A	possibly damaging	Het
Eif4enif1	T	C	11: 3,179,986 (GRCm39)	L302P	probably benign	Het
Faf1	T	G	4: 109,792,779 (GRCm39)	F584V	probably benign	Het
Glb1l2	G	A	9: 26,707,772 (GRCm39)	R72C	probably damaging	Het
Gm9892	T	C	8: 52,649,871 (GRCm39)		noncoding transcript	Het
Hecw1	G	T	13: 14,438,706 (GRCm39)	D892E	probably damaging	Het
Hr	A	G	14: 70,795,790 (GRCm39)	E474G	possibly damaging	Het
Ltbp1	T	G	17: 75,559,401 (GRCm39)	F297V	probably damaging	Het
Myc	A	G	15: 61,859,707 (GRCm39)	N127D	probably damaging	Het
Nbn	T	A	4: 15,986,613 (GRCm39)	N671K	probably benign	Het
Nup210l	C	A	3: 90,109,278 (GRCm39)	T1607N	possibly damaging	Het
Or8s8	A	T	15: 98,354,709 (GRCm39)	T173S	probably damaging	Het
Osbpl1a	T	A	18: 12,974,370 (GRCm39)	K22*	probably null	Het
Phf20l1	T	C	15: 66,513,650 (GRCm39)	L942P	probably damaging	Het
Plekhg5	C	T	4: 152,186,537 (GRCm39)	R40W	probably damaging	Het
Pomt2	C	T	12: 87,169,609 (GRCm39)		probably benign	Het
Rab3gap1	A	G	1: 127,847,298 (GRCm39)		probably benign	Het
Sbk1	T	C	7: 125,890,230 (GRCm39)	L81P	probably damaging	Het
Scrib	G	A	15: 75,920,104 (GRCm39)	P1524S	probably damaging	Het
Smpdl3a	T	A	10: 57,683,611 (GRCm39)	N240K	probably benign	Het
Smyd4	A	T	11: 75,281,111 (GRCm39)	K195*	probably null	Het
Spmap1	A	T	11: 97,666,525 (GRCm39)	Y54N	probably damaging	Het
Tulp3	A	T	6: 128,304,561 (GRCm39)	M231K	possibly damaging	Het
Zfp87	A	G	13: 67,668,739 (GRCm39)		probably benign	Het

Other mutations in Arc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01778:Arc	APN	15	74,544,204 (GRCm39)	missense	probably benign
IGL03209:Arc	APN	15	74,543,833 (GRCm39)	missense	probably damaging	1.00
P0040:Arc	UTSW	15	74,543,188 (GRCm39)	missense	probably damaging	1.00
R0732:Arc	UTSW	15	74,543,044 (GRCm39)	missense	probably damaging	1.00
R1377:Arc	UTSW	15	74,544,101 (GRCm39)	missense	possibly damaging	0.51
R2430:Arc	UTSW	15	74,543,740 (GRCm39)	missense	probably benign	0.01
R4647:Arc	UTSW	15	74,543,374 (GRCm39)	missense	probably damaging	1.00
R4855:Arc	UTSW	15	74,543,592 (GRCm39)	missense	probably benign	0.01
R6436:Arc	UTSW	15	74,544,098 (GRCm39)	missense	possibly damaging	0.47
R6743:Arc	UTSW	15	74,543,636 (GRCm39)	missense	probably benign
R8678:Arc	UTSW	15	74,543,539 (GRCm39)	missense	probably damaging	1.00
R9041:Arc	UTSW	15	74,543,896 (GRCm39)	missense	probably damaging	1.00
R9070:Arc	UTSW	15	74,543,833 (GRCm39)	missense	probably damaging	1.00
R9184:Arc	UTSW	15	74,543,779 (GRCm39)	missense	probably damaging	1.00
R9428:Arc	UTSW	15	74,543,063 (GRCm39)	missense	probably benign	0.01
RF003:Arc	UTSW	15	74,543,980 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16