Incidental Mutation 'IGL03057:Reg3a'
ID409296
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: 0.049) question?
Stock #IGL03057
Quality Score
Status
Chromosome6
Chromosomal Location78380709-78383827 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 78381956 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 46 (A46T)
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 possibly damaging
Transcript: ENSMUST00000101272
AA Change: A46T

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000098829
Gene: ENSMUSG00000079516
AA Change: A46T

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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,668,391 A1295V possibly damaging Het
Adgre4 T C 17: 55,799,602 probably benign Het
Atp8b2 A T 3: 89,944,186 Y901N probably damaging Het
Bud31 A G 5: 145,146,568 T74A probably benign Het
C4b C A 17: 34,737,764 probably benign Het
Ccdc92 G A 5: 124,835,689 Q259* probably null Het
Chfr C A 5: 110,143,609 Q98K probably benign Het
Ciita T A 16: 10,520,959 probably benign Het
Cnbd2 A T 2: 156,367,672 I512F possibly damaging Het
Cpa2 A G 6: 30,557,727 Y346C probably damaging Het
Cpxm1 A G 2: 130,393,189 L570P probably damaging Het
Cylc1 G A X: 111,122,601 G217D unknown Het
Dennd2a T C 6: 39,508,248 I366V probably damaging Het
Dis3 A T 14: 99,089,990 M359K possibly damaging Het
Dock10 T C 1: 80,567,371 N848S probably damaging Het
Dyrk3 C T 1: 131,129,078 V453I probably benign Het
Ercc5 A G 1: 44,167,001 E358G probably damaging Het
Fam167b C A 4: 129,578,167 C70F possibly damaging Het
Fam71a A T 1: 191,162,944 S501T probably benign Het
Flt1 G T 5: 147,681,924 Y200* probably null Het
Ggh T C 4: 20,065,770 V288A probably benign Het
Glb1l2 T C 9: 26,806,290 probably benign Het
Gm28042 A G 2: 120,032,156 Y302C probably damaging Het
Gsta2 A G 9: 78,333,910 probably benign Het
Idh3b T A 2: 130,284,401 N6I probably benign Het
Irs4 A G X: 141,722,528 S891P unknown Het
Kcmf1 G T 6: 72,843,027 R330S probably benign Het
Kif26a G T 12: 112,175,774 E821* probably null Het
L3mbtl1 A G 2: 162,967,383 E670G probably damaging Het
Met A T 6: 17,558,766 D1131V probably damaging Het
Neo1 T C 9: 58,878,059 E1428G probably damaging Het
Odf2 A G 2: 29,923,645 probably benign Het
Ogfod1 T A 8: 94,056,138 L294H possibly damaging Het
Olfr933 G T 9: 38,976,218 V181F probably benign Het
Pcdhb20 A T 18: 37,504,798 I126L possibly damaging Het
Pcdhb9 A T 18: 37,401,277 Q108L probably benign Het
Prdm10 G T 9: 31,349,185 R645L probably damaging Het
Psmb11 T A 14: 54,625,779 C151* probably null Het
Reep1 T A 6: 71,807,781 probably benign Het
Rnf213 T A 11: 119,441,087 I2374N probably damaging Het
Slc17a7 T C 7: 45,170,939 Y273H probably damaging Het
Smg6 T A 11: 74,935,434 Y238* probably null Het
Sorcs1 T A 19: 50,259,756 K411* probably null Het
Spta1 G T 1: 174,181,058 A243S probably benign Het
Tas2r135 A T 6: 42,401,127 probably benign Het
Tbx18 T C 9: 87,730,829 R6G probably damaging Het
Timp3 A G 10: 86,300,951 D33G possibly damaging Het
Ttf1 A G 2: 29,071,345 K582E probably damaging Het
Ubr5 C A 15: 38,040,906 probably benign Het
Ugt2b1 A G 5: 86,926,341 V53A possibly damaging Het
Ush2a G T 1: 188,797,838 G3275W probably damaging Het
Usp19 G A 9: 108,499,130 V1023M probably benign Het
Usp26 T C X: 51,757,258 I47V possibly damaging Het
Vapa A G 17: 65,594,907 V76A probably damaging Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Vps13a T C 19: 16,668,694 N1993S probably damaging Het
Wdr59 G A 8: 111,476,118 R598C probably damaging Het
Wisp1 T C 15: 66,891,640 probably benign Het
Other mutations in Reg3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00978:Reg3a APN 6 78382301 nonsense probably null
IGL01107:Reg3a APN 6 78383245 missense probably benign 0.13
IGL02231:Reg3a APN 6 78382241 missense possibly damaging 0.85
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 splice site 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 On2016-08-02