Incidental Mutation 'IGL02012:Armc1'
ID183400
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Armc1
Ensembl Gene ENSMUSG00000027599
Gene Namearmadillo repeat containing 1
Synonyms2310016N05Rik, C330014L16Rik, 2900046P06Rik, Arcp, 3110009G21Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.436) question?
Stock #IGL02012
Quality Score
Status
Chromosome3
Chromosomal Location19131402-19163065 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 19157537 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 40 (C40S)
Ref Sequence ENSEMBL: ENSMUSP00000029125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029125]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029125
AA Change: C40S

PolyPhen 2 Score 0.567 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029125
Gene: ENSMUSG00000027599
AA Change: C40S

DomainStartEndE-ValueType
Pfam:Arm 27 68 1.1e-6 PFAM
SCOP:d1fvqa_ 142 203 6e-10 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,674,861 N1296S probably damaging Het
Adprh A T 16: 38,445,852 D309E possibly damaging Het
AF529169 T C 9: 89,601,438 I635M probably benign Het
BC100530 T G 16: 36,367,440 D21A possibly damaging Het
Cops8 T C 1: 90,612,234 V204A probably damaging Het
Dchs1 T G 7: 105,764,297 T1104P probably damaging Het
Ddi2 A T 4: 141,708,218 probably null Het
Ehbp1 G A 11: 22,101,218 P420S probably damaging Het
Eif1ad T G 19: 5,368,659 V80G probably damaging Het
Fat1 T C 8: 45,027,540 Y3004H possibly damaging Het
Fbxo11 C T 17: 88,012,651 R211Q probably benign Het
Foxf2 A G 13: 31,626,516 N146S probably damaging Het
Fsd2 A T 7: 81,549,914 N334K probably benign Het
Gm45234 C A 6: 124,746,048 probably benign Het
Itpr3 T A 17: 27,104,095 F1157I probably benign Het
Jph1 C A 1: 17,097,414 W64L probably benign Het
Lmo7 T C 14: 101,888,716 probably benign Het
Man2a1 T C 17: 64,666,899 I390T probably damaging Het
Marveld3 C T 8: 109,948,132 V351M probably damaging Het
Mycn A G 12: 12,937,103 L431P probably damaging Het
Naip5 T C 13: 100,223,339 N463S probably benign Het
Npnt A G 3: 132,908,397 C182R probably damaging Het
Obscn A G 11: 59,076,507 V3068A probably benign Het
Pggt1b A T 18: 46,262,955 S88T probably benign Het
Prx A G 7: 27,517,901 E748G probably damaging Het
Scrn3 T C 2: 73,318,429 probably null Het
Trmt10b G A 4: 45,315,045 R292H probably benign Het
Tuft1 A G 3: 94,622,155 probably benign Het
Wfdc8 T C 2: 164,603,150 probably benign Het
Other mutations in Armc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00837:Armc1 APN 3 19144420 missense probably benign 0.21
IGL01453:Armc1 APN 3 19144430 missense probably benign 0.03
IGL02586:Armc1 APN 3 19134028 utr 3 prime probably benign
R0512:Armc1 UTSW 3 19149495 missense possibly damaging 0.87
R1694:Armc1 UTSW 3 19134886 missense possibly damaging 0.81
R1878:Armc1 UTSW 3 19157544 missense probably damaging 1.00
R1881:Armc1 UTSW 3 19134896 missense possibly damaging 0.76
R2191:Armc1 UTSW 3 19134061 missense probably damaging 1.00
R2264:Armc1 UTSW 3 19134869 missense probably damaging 1.00
R2403:Armc1 UTSW 3 19157676 start gained probably benign
R2969:Armc1 UTSW 3 19134860 missense probably benign
R3861:Armc1 UTSW 3 19135032 missense probably damaging 1.00
R4296:Armc1 UTSW 3 19149516 missense probably damaging 0.99
R6753:Armc1 UTSW 3 19144398 missense possibly damaging 0.86
R6891:Armc1 UTSW 3 19135041 missense probably damaging 1.00
Z1088:Armc1 UTSW 3 19149507 missense probably damaging 1.00
Posted On2014-05-07