Incidental Mutation 'IGL01107:Reg3a'
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ID51324
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: 0.052) question?
Stock #IGL01107
Quality Score
Status
Chromosome6
Chromosomal Location78380709-78383827 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 78383245 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 136 (D136G)
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 benign
Transcript: ENSMUST00000101272
AA Change: D136G

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000098829
Gene: ENSMUSG00000079516
AA Change: D136G

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik A T 2: 30,797,936 F215Y probably damaging Het
2700049A03Rik T C 12: 71,194,468 probably null Het
Akip1 C T 7: 109,711,838 T195M probably damaging Het
Arhgef16 T C 4: 154,280,244 N631S probably benign Het
Brat1 C T 5: 140,717,177 S544L probably damaging Het
Cfap65 C T 1: 74,919,183 probably null Het
D17Wsu92e A T 17: 27,786,069 probably null Het
Defa22 T A 8: 21,163,037 probably null Het
Dnajc4 C T 19: 6,989,501 R153H probably benign Het
Dusp11 A G 6: 85,952,370 probably benign Het
E2f4 T A 8: 105,304,177 probably benign Het
Ece1 T A 4: 137,938,658 L271Q probably damaging Het
Fcgrt T C 7: 45,093,328 D343G probably damaging Het
Igsf10 T C 3: 59,331,524 E412G probably damaging Het
Il4ra G T 7: 125,575,914 L431F possibly damaging Het
Krt86 T A 15: 101,475,425 L200Q probably damaging Het
Lpcat1 T A 13: 73,494,828 F126I probably damaging Het
Prag1 A G 8: 36,099,931 T79A probably benign Het
Pramef12 A T 4: 144,393,094 I301N probably benign Het
Psg29 G T 7: 17,204,925 L41F probably benign Het
Rai14 C T 15: 10,599,711 probably benign Het
Rif1 A G 2: 52,111,303 T1590A probably benign Het
Rorb A T 19: 18,957,328 L300* probably null Het
Sin3b T C 8: 72,731,105 C150R possibly damaging Het
Smarcc1 C A 9: 110,221,937 H942N probably damaging Het
Tas2r105 A G 6: 131,687,111 V118A probably benign Het
Tmem131 T C 1: 36,829,581 S388G probably damaging Het
Ttll9 C A 2: 153,002,889 probably benign Het
Ush1c A G 7: 46,209,901 L498P probably damaging Het
Vmn2r100 A G 17: 19,521,356 Y110C probably damaging Het
Zbtb11 T C 16: 56,006,007 Y800H probably damaging Het
Zdhhc20 T A 14: 57,865,589 E101V probably damaging Het
Other mutations in Reg3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00978:Reg3a APN 6 78382301 nonsense probably null
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 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 On2013-06-21