Incidental Mutation 'IGL02640:Arcn1'
ID 301684
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arcn1
Ensembl Gene ENSMUSG00000032096
Gene Name archain 1
Synonyms 4632432M07Rik, pale coat neuro, nur17, delta-COP
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02640
Quality Score
Status
Chromosome 9
Chromosomal Location 44653440-44679105 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 44662614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 344 (I344S)
Ref Sequence ENSEMBL: ENSMUSP00000034607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034607]
AlphaFold Q5XJY5
Predicted Effect probably damaging
Transcript: ENSMUST00000034607
AA Change: I344S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034607
Gene: ENSMUSG00000032096
AA Change: I344S

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: ENSMUST00000217194
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh3 C A 2: 93,826,706 (GRCm39) R165L possibly damaging Het
Arap3 A G 18: 38,120,855 (GRCm39) V730A possibly damaging Het
Ascc3 A C 10: 50,643,470 (GRCm39) D1807A possibly damaging Het
Atp2b3 A G X: 72,585,811 (GRCm39) S615G probably benign Het
Ccdc40 A G 11: 119,128,904 (GRCm39) N450S probably benign Het
Cep41 T C 6: 30,658,867 (GRCm39) E160G probably benign Het
Cxxc1 T C 18: 74,354,254 (GRCm39) L654P probably damaging Het
Dusp29 T A 14: 21,753,123 (GRCm39) T8S probably damaging Het
Gnb4 C T 3: 32,645,374 (GRCm39) A106T probably benign Het
Gosr1 T C 11: 76,645,603 (GRCm39) N59S probably benign Het
Itgav A G 2: 83,622,283 (GRCm39) T622A probably benign Het
Lamc2 A G 1: 153,027,803 (GRCm39) I207T probably damaging Het
Lce1c C A 3: 92,587,845 (GRCm39) probably benign Het
Mcm3ap G T 10: 76,342,255 (GRCm39) D1583Y probably damaging Het
Mphosph9 A T 5: 124,453,563 (GRCm39) F220I possibly damaging Het
Or14j2 A G 17: 37,885,912 (GRCm39) V134A possibly damaging Het
Or2ag16 A T 7: 106,352,559 (GRCm39) F12Y probably damaging Het
Plcb1 T G 2: 135,062,779 (GRCm39) probably benign Het
Polr3c G A 3: 96,624,002 (GRCm39) T312M probably damaging Het
Ppp4r3c2 T C X: 88,796,210 (GRCm39) V14A probably benign Het
Ptpn12 G T 5: 21,224,244 (GRCm39) D116E probably damaging Het
Ptprb A G 10: 116,174,569 (GRCm39) D747G probably damaging Het
Scn9a A G 2: 66,366,440 (GRCm39) probably null Het
Slit3 T C 11: 35,591,172 (GRCm39) V1328A probably benign Het
Sucla2 C A 14: 73,819,246 (GRCm39) S264Y probably benign Het
Tagln3 T C 16: 45,544,596 (GRCm39) D25G probably benign Het
Tbck A G 3: 132,480,247 (GRCm39) T709A probably benign Het
Tead1 C T 7: 112,460,663 (GRCm39) A189V probably benign Het
Tmem234 A G 4: 129,494,896 (GRCm39) Q46R probably damaging Het
Trpm1 T A 7: 63,868,881 (GRCm39) L395Q probably damaging Het
Tti2 T A 8: 31,645,942 (GRCm39) W419R probably damaging Het
Vmn2r3 A T 3: 64,194,816 (GRCm39) M34K probably benign Het
Vps13c G T 9: 67,793,530 (GRCm39) probably benign Het
Zfp521 A T 18: 13,977,987 (GRCm39) Y809N probably benign Het
Other mutations in Arcn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Arcn1 APN 9 44,670,333 (GRCm39) nonsense probably null
IGL00473:Arcn1 APN 9 44,668,444 (GRCm39) missense probably benign 0.00
IGL00909:Arcn1 APN 9 44,662,651 (GRCm39) missense probably damaging 1.00
IGL01341:Arcn1 APN 9 44,668,489 (GRCm39) missense possibly damaging 0.82
IGL02074:Arcn1 APN 9 44,670,309 (GRCm39) missense probably benign 0.30
greyhound UTSW 9 44,661,691 (GRCm39) missense possibly damaging 0.92
PIT4402001:Arcn1 UTSW 9 44,656,899 (GRCm39) missense possibly damaging 0.89
R0323:Arcn1 UTSW 9 44,670,356 (GRCm39) missense probably damaging 1.00
R0834:Arcn1 UTSW 9 44,670,172 (GRCm39) splice site probably benign
R1552:Arcn1 UTSW 9 44,670,291 (GRCm39) missense probably damaging 1.00
R5114:Arcn1 UTSW 9 44,671,441 (GRCm39) missense probably benign 0.01
R5196:Arcn1 UTSW 9 44,671,324 (GRCm39) missense probably damaging 1.00
R5327:Arcn1 UTSW 9 44,668,444 (GRCm39) missense probably benign 0.01
R6750:Arcn1 UTSW 9 44,661,691 (GRCm39) missense possibly damaging 0.92
R8809:Arcn1 UTSW 9 44,655,259 (GRCm39) missense possibly damaging 0.75
R9458:Arcn1 UTSW 9 44,671,267 (GRCm39) missense probably damaging 1.00
Z1177:Arcn1 UTSW 9 44,668,550 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16