Incidental Mutation 'IGL00473:Arcn1'
ID4899
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arcn1
Ensembl Gene ENSMUSG00000032096
Gene Namearchain 1
Synonyms4632432M07Rik, pale coat neuro, nur17
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00473
Quality Score
Status
Chromosome9
Chromosomal Location44741564-44767845 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 44757147 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 264 (V264A)
Ref Sequence ENSEMBL: ENSMUSP00000034607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034607]
Predicted Effect probably benign
Transcript: ENSMUST00000034607
AA Change: V264A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034607
Gene: ENSMUSG00000032096
AA Change: V264A

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 3 140 5.6e-8 PFAM
coiled coil region 145 180 N/A INTRINSIC
low complexity region 200 207 N/A INTRINSIC
Pfam:Adap_comp_sub 261 510 6.8e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150160
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217199
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217425
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene maps in a region, which include the mixed lineage leukemia and Friend leukemia virus integration 1 genes, where multiple disease-associated chromosome translocations occur. It is an intracellular protein. Archain sequences are well conserved among eukaryotes and this protein may play a fundamental role in eukaryotic cell biology. It has similarities to heat shock proteins and clathrin-associated proteins, and may be involved in vesicle structure or trafficking. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous mutation have a dilute coat color and neurological defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110043O21Rik C T 4: 35,213,616 G178E possibly damaging Het
Asap1 T C 15: 64,173,215 probably benign Het
Brpf1 A C 6: 113,316,684 Q571H probably damaging Het
Creb3 G T 4: 43,565,517 R232L probably benign Het
Cst10 G T 2: 149,405,373 S3I unknown Het
Cyp4a14 A G 4: 115,489,952 probably benign Het
Daxx C T 17: 33,911,607 Q199* probably null Het
Eml5 A G 12: 98,805,492 probably benign Het
Gbp6 T A 5: 105,274,279 K520* probably null Het
Gcfc2 T A 6: 81,944,374 C454S probably damaging Het
Gm9894 T A 13: 67,765,117 noncoding transcript Het
Gpr15 C T 16: 58,718,078 C216Y probably damaging Het
Gzmn T C 14: 56,166,979 K134E probably benign Het
Kat2b T G 17: 53,663,623 I679S possibly damaging Het
Klhl10 A G 11: 100,456,414 Y478C probably damaging Het
Mapt A G 11: 104,287,183 D54G probably damaging Het
Mocs1 A G 17: 49,433,201 E52G probably benign Het
Plekhn1 T G 4: 156,223,363 T369P probably damaging Het
Prdm6 T A 18: 53,540,285 F172L probably benign Het
Prl7b1 A T 13: 27,604,590 V94D probably damaging Het
Rasal2 T C 1: 157,147,817 T1116A probably benign Het
Rreb1 A T 13: 37,930,791 K709* probably null Het
Ruvbl1 A T 6: 88,491,568 R357W probably damaging Het
Slc4a5 T C 6: 83,296,597 L973P probably damaging Het
Srp72 A G 5: 76,984,176 Y234C probably damaging Het
Synrg G A 11: 84,039,246 M1070I probably damaging Het
Zan A T 5: 137,464,250 I889K possibly damaging Het
Zbtb40 G A 4: 136,987,340 T1046M probably damaging Het
Zfp978 A G 4: 147,390,860 N288S probably benign Het
Zfpm2 A T 15: 41,099,287 K247M probably damaging Het
Other mutations in Arcn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Arcn1 APN 9 44759036 nonsense probably null
IGL00909:Arcn1 APN 9 44751354 missense probably damaging 1.00
IGL01341:Arcn1 APN 9 44757192 missense possibly damaging 0.82
IGL02074:Arcn1 APN 9 44759012 missense probably benign 0.30
IGL02640:Arcn1 APN 9 44751317 missense probably damaging 0.99
greyhound UTSW 9 44750394 missense possibly damaging 0.92
PIT4402001:Arcn1 UTSW 9 44745602 missense possibly damaging 0.89
R0323:Arcn1 UTSW 9 44759059 missense probably damaging 1.00
R0834:Arcn1 UTSW 9 44758875 splice site probably benign
R1552:Arcn1 UTSW 9 44758994 missense probably damaging 1.00
R5114:Arcn1 UTSW 9 44760144 missense probably benign 0.01
R5196:Arcn1 UTSW 9 44760027 missense probably damaging 1.00
R5327:Arcn1 UTSW 9 44757147 missense probably benign 0.01
R6750:Arcn1 UTSW 9 44750394 missense possibly damaging 0.92
Posted On2012-04-20