Incidental Mutation 'PIT4402001:Arcn1'
ID 555527
Institutional Source Beutler Lab
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 # PIT4402001 (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 T at 44656899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 421 (V421E)
Ref Sequence ENSEMBL: ENSMUSP00000034607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034607]
AlphaFold Q5XJY5
Predicted Effect possibly damaging
Transcript: ENSMUST00000034607
AA Change: V421E

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034607
Gene: ENSMUSG00000032096
AA Change: V421E

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: 92.8%
  • 3x: 90.3%
  • 10x: 83.2%
  • 20x: 68.1%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik T G 14: 59,380,084 (GRCm39) L71F probably damaging Het
Adamts9 C T 6: 92,849,328 (GRCm39) V1044I probably benign Het
Alcam T C 16: 52,115,497 (GRCm39) Y207C probably damaging Het
Aldh4a1 C A 4: 139,369,502 (GRCm39) S351* probably null Het
Aoah C A 13: 20,978,680 (GRCm39) S39R probably benign Het
Ccdc18 A G 5: 108,306,485 (GRCm39) E300G possibly damaging Het
Cdk2ap2 C A 19: 4,148,557 (GRCm39) R126S probably damaging Het
Dcun1d4 A G 5: 73,668,276 (GRCm39) I39V probably benign Het
Fam53b A T 7: 132,361,746 (GRCm39) I94N probably damaging Het
Fam83g A G 11: 61,594,422 (GRCm39) H652R probably damaging Het
Fanca A T 8: 124,039,803 (GRCm39) M157K possibly damaging Het
Flt1 A T 5: 147,615,049 (GRCm39) I299N probably damaging Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,497,361 (GRCm39) probably null Het
Gns A G 10: 121,212,611 (GRCm39) Y191C probably damaging Het
Grin2a T C 16: 9,462,063 (GRCm39) T690A possibly damaging Het
Gsk3b C T 16: 37,909,763 (GRCm39) probably benign Het
Igsf10 A G 3: 59,233,000 (GRCm39) V1911A probably benign Het
Igsf3 A G 3: 101,334,393 (GRCm39) K157E probably benign Het
Inpp5a T C 7: 139,091,369 (GRCm39) Y118H probably benign Het
Kmt2a A G 9: 44,752,359 (GRCm39) V1413A unknown Het
Mettl9 T A 7: 120,656,440 (GRCm39) V190E probably damaging Het
Mrps9 T C 1: 42,935,258 (GRCm39) L188P probably benign Het
Myo9a A T 9: 59,777,719 (GRCm39) R1158S possibly damaging Het
Nacad T G 11: 6,548,621 (GRCm39) Q1371P probably benign Het
Ncoa1 T C 12: 4,344,987 (GRCm39) M787V probably benign Het
Noxred1 A T 12: 87,273,855 (GRCm39) I62K probably benign Het
Or1j4 A T 2: 36,740,316 (GRCm39) H86L probably benign Het
Or2d3b T A 7: 106,514,294 (GRCm39) D296E possibly damaging Het
Or2y17 A G 11: 49,232,226 (GRCm39) Y289C probably damaging Het
Or52d1 A G 7: 103,755,657 (GRCm39) Y57C probably damaging Het
Otud6b A G 4: 14,818,185 (GRCm39) Y239H probably damaging Het
Pank1 A G 19: 34,818,366 (GRCm39) Y233H probably damaging Het
Pccb G T 9: 100,877,645 (GRCm39) D286E probably benign Het
Plek A C 11: 16,940,121 (GRCm39) L196R probably benign Het
Pou6f2 T C 13: 18,299,931 (GRCm39) H576R Het
Rbm47 T A 5: 66,184,354 (GRCm39) Y83F probably damaging Het
Rbm6 A T 9: 107,665,049 (GRCm39) Y787N probably damaging Het
Slc8a2 C A 7: 15,868,419 (GRCm39) A217E probably damaging Het
Suox G A 10: 128,507,164 (GRCm39) A288V probably damaging Het
Tbccd1 T C 16: 22,640,873 (GRCm39) I501M probably damaging Het
Tjp2 C A 19: 24,075,493 (GRCm39) G1042* probably null Het
Tmtc2 T C 10: 105,249,268 (GRCm39) Y155C probably damaging Het
Usp7 T C 16: 8,516,359 (GRCm39) N600S probably benign Het
Zer1 T C 2: 29,991,132 (GRCm39) I699V probably damaging Het
Zfp142 A G 1: 74,618,687 (GRCm39) F227S probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- ATCAGACACTTGTCCTGCC -3'
(R):5'- TAGCCAAGGTGTTATGACTTCC -3'

Sequencing Primer
(F):5'- GAGTACCTGTATGTTGCAGTAATTC -3'
(R):5'- GACTTCCATCCTTGAAGTTACCAAG -3'
Posted On 2019-06-07