Incidental Mutation 'IGL00978:Reg3a'
ID27709
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Reg3a
Ensembl Gene ENSMUSG00000079516
Gene Nameregenerating islet-derived 3 alpha
SynonymsRegIII (alpha)
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL00978
Quality Score
Status
Chromosome6
Chromosomal Location78380709-78383827 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 78382301 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 95 (R95*)
Ref Sequence ENSEMBL: ENSMUSP00000098829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089667] [ENSMUST00000101272] [ENSMUST00000167492] [ENSMUST00000205240]
Predicted Effect probably benign
Transcript: ENSMUST00000089667
SMART Domains Protein: ENSMUSP00000087096
Gene: ENSMUSG00000068341

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CLECT 40 172 6.99e-24 SMART
Predicted Effect probably null
Transcript: ENSMUST00000101272
AA Change: R95*
SMART Domains Protein: ENSMUSP00000098829
Gene: ENSMUSG00000079516
AA Change: R95*

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CLECT 40 172 8.66e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167492
SMART Domains Protein: ENSMUSP00000132220
Gene: ENSMUSG00000068341

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CLECT 40 126 1.66e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205240
SMART Domains Protein: ENSMUSP00000144715
Gene: ENSMUSG00000068341

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CLECT 40 126 1.66e-1 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009L18Rik T C 11: 120,350,947 probably benign Het
Alpk2 A T 18: 65,291,534 probably benign Het
Angptl8 T C 9: 21,837,053 probably benign Het
AU040320 T A 4: 126,828,839 D383E probably benign Het
Cep97 C T 16: 55,924,960 probably benign Het
Clcn4 A T 7: 7,287,673 L649H probably damaging Het
Col5a2 T C 1: 45,376,739 N1416S probably benign Het
Erbb2 C T 11: 98,435,630 P1027S probably damaging Het
Eya1 A G 1: 14,270,701 probably benign Het
Gfm2 T C 13: 97,162,977 I402T probably benign Het
Gmeb2 A T 2: 181,259,043 V187E probably benign Het
Hectd1 T C 12: 51,791,390 H662R possibly damaging Het
Ifne T C 4: 88,880,031 Q50R probably benign Het
Kidins220 A G 12: 25,057,474 D1642G probably damaging Het
Klhl32 T A 4: 24,682,245 D146V probably damaging Het
Krt36 T C 11: 100,102,948 I355V probably damaging Het
Lrrcc1 T A 3: 14,536,128 S73R possibly damaging Het
Ltbp3 A T 19: 5,754,019 H853L probably benign Het
Map3k5 G A 10: 20,141,567 R1369Q probably damaging Het
Mcm8 A G 2: 132,821,406 N148S probably benign Het
Mylk3 A T 8: 85,355,526 L211* probably null Het
Nras T C 3: 103,058,916 probably benign Het
Olfr135 A T 17: 38,208,982 I246F probably damaging Het
Olfr670 A T 7: 104,960,716 N5K probably damaging Het
Os9 A T 10: 127,120,509 Y66N probably damaging Het
Pitpnm1 A G 19: 4,101,228 D15G possibly damaging Het
Rnf17 C T 14: 56,512,271 P1425S probably damaging Het
Smad2 T C 18: 76,299,775 probably benign Het
Ttll5 C T 12: 85,933,482 Q76* probably null Het
Uri1 A T 7: 37,996,731 probably benign Het
Vmn2r102 G T 17: 19,678,923 probably null Het
Vmn2r70 T G 7: 85,563,799 M467L probably benign Het
Zfp318 T A 17: 46,413,726 D2218E possibly damaging Het
Zfp692 T C 11: 58,314,029 I405T possibly damaging Het
Zfp692 A G 11: 58,309,998 H235R possibly damaging Het
Other mutations in Reg3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01107:Reg3a APN 6 78383245 missense probably benign 0.13
IGL02231:Reg3a APN 6 78382241 missense possibly damaging 0.85
IGL03057:Reg3a APN 6 78381956 missense possibly damaging 0.86
R1778:Reg3a UTSW 6 78383286 missense probably benign 0.11
R2122:Reg3a UTSW 6 78381136 missense possibly damaging 0.73
R3110:Reg3a UTSW 6 78381131 missense probably damaging 0.99
R3112:Reg3a UTSW 6 78381131 missense probably damaging 0.99
R4011:Reg3a UTSW 6 78383570 missense probably damaging 0.99
R4868:Reg3a UTSW 6 78381900 missense probably damaging 0.96
R5339:Reg3a UTSW 6 78383539 critical splice acceptor site probably null
R6885:Reg3a UTSW 6 78381055 intron probably null
R6994:Reg3a UTSW 6 78381149 missense probably benign 0.00
R7480:Reg3a UTSW 6 78382347 missense probably damaging 1.00
R7998:Reg3a UTSW 6 78381149 missense probably benign 0.00
Posted On2013-04-17