Incidental Mutation 'R9458:Arcn1'
ID 714711
Institutional Source Beutler Lab
Gene Symbol Arcn1
Ensembl Gene ENSMUSG00000032096
Gene Name archain 1
Synonyms 4632432M07Rik, pale coat neuro, nur17, delta-COP
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9458 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 44653440-44679105 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44671267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 87 (S87P)
Ref Sequence ENSEMBL: ENSMUSP00000034607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034607]
AlphaFold Q5XJY5
Predicted Effect probably damaging
Transcript: ENSMUST00000034607
AA Change: S87P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034607
Gene: ENSMUSG00000032096
AA Change: S87P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010K14Rik T C 11: 70,127,731 (GRCm39) I64V possibly damaging Het
4921539E11Rik T A 4: 103,141,608 (GRCm39) I18L possibly damaging Het
Bmp7 G A 2: 172,721,268 (GRCm39) P269L possibly damaging Het
Cdhr18 A T 14: 13,856,709 (GRCm38) F467L Het
Clrn2 A T 5: 45,617,513 (GRCm39) Y128F possibly damaging Het
Col2a1 G A 15: 97,876,242 (GRCm39) R1192C unknown Het
Col6a6 A G 9: 105,586,361 (GRCm39) F1887L probably benign Het
Crocc2 G T 1: 93,145,516 (GRCm39) A1466S probably damaging Het
Dnah8 A G 17: 31,049,777 (GRCm39) N4313D probably damaging Het
Dzip1 T C 14: 119,148,785 (GRCm39) E298G probably damaging Het
Eif2b4 C A 5: 31,350,609 (GRCm39) probably benign Het
Emx1 T A 6: 85,181,042 (GRCm39) V253D probably damaging Het
Enah A T 1: 181,746,107 (GRCm39) S654R unknown Het
F2 A T 2: 91,461,113 (GRCm39) N207K probably benign Het
Flcn G T 11: 59,690,208 (GRCm39) D281E possibly damaging Het
Fzd7 C A 1: 59,523,554 (GRCm39) P479Q probably damaging Het
Gulo T C 14: 66,235,043 (GRCm39) N226S probably benign Het
Igfbp6 A G 15: 102,057,634 (GRCm39) N205S probably benign Het
Ints1 A G 5: 139,743,407 (GRCm39) L1655P probably damaging Het
Mndal A G 1: 173,687,749 (GRCm39) F495S probably damaging Het
Panx2 A G 15: 88,952,057 (GRCm39) K175E possibly damaging Het
Panx2 A C 15: 88,952,058 (GRCm39) K175T probably damaging Het
Pde6a A T 18: 61,387,477 (GRCm39) Y456F probably damaging Het
Phf21b A G 15: 84,738,995 (GRCm39) L22P possibly damaging Het
Rev3l T C 10: 39,659,247 (GRCm39) I83T probably damaging Het
Sfrp5 T C 19: 42,190,296 (GRCm39) D52G probably benign Het
Sgsm2 A G 11: 74,759,557 (GRCm39) S102P possibly damaging Het
Slc7a2 T G 8: 41,352,330 (GRCm39) I131S probably damaging Het
Snupn A T 9: 56,890,039 (GRCm39) I287F possibly damaging Het
Synj1 T G 16: 90,766,200 (GRCm39) I573L probably benign Het
Tmcc2 T G 1: 132,286,747 (GRCm39) D568A probably damaging Het
Tmf1 G T 6: 97,153,382 (GRCm39) H230Q probably benign Het
Togaram2 T C 17: 72,024,246 (GRCm39) V810A possibly damaging Het
Vmn1r169 T C 7: 23,276,628 (GRCm39) S7P possibly damaging Het
Vwce A G 19: 10,631,688 (GRCm39) T550A possibly damaging Het
Zbtb12 T C 17: 35,115,367 (GRCm39) V384A possibly damaging Het
Zpld2 G A 4: 133,929,312 (GRCm39) P331L probably benign Het
Zscan20 T C 4: 128,480,639 (GRCm39) probably null 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
IGL02640:Arcn1 APN 9 44,662,614 (GRCm39) missense probably damaging 0.99
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
Z1177:Arcn1 UTSW 9 44,668,550 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCAACAAGTGTCTGCTGAATAAAG -3'
(R):5'- TTCGTGGAGATGACCCGAAC -3'

Sequencing Primer
(F):5'- CTCAGCGACAGAGTGCTTGTATAG -3'
(R):5'- CGAACTCGGATTGAAGGCTTATTAGC -3'
Posted On 2022-06-15