Incidental Mutation 'IGL01107:Reg3a'
ID 51324
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Reg3a
Ensembl Gene ENSMUSG00000079516
Gene Name regenerating islet-derived 3 alpha
Synonyms RegIII (alpha)
Accession Numbers
Essential gene? Probably non essential (E-score: 0.047) question?
Stock # IGL01107
Quality Score
Status
Chromosome 6
Chromosomal Location 78357692-78360810 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78360228 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold O09037
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: 30,687,948 (GRCm39) F215Y probably damaging Het
2700049A03Rik T C 12: 71,241,242 (GRCm39) probably null Het
Akip1 C T 7: 109,311,045 (GRCm39) T195M probably damaging Het
Arhgef16 T C 4: 154,364,701 (GRCm39) N631S probably benign Het
Brat1 C T 5: 140,702,932 (GRCm39) S544L probably damaging Het
Cfap65 C T 1: 74,958,342 (GRCm39) probably null Het
Defa22 T A 8: 21,653,053 (GRCm39) probably null Het
Dnajc4 C T 19: 6,966,869 (GRCm39) R153H probably benign Het
Dusp11 A G 6: 85,929,352 (GRCm39) probably benign Het
E2f4 T A 8: 106,030,809 (GRCm39) probably benign Het
Ece1 T A 4: 137,665,969 (GRCm39) L271Q probably damaging Het
Fcgrt T C 7: 44,742,752 (GRCm39) D343G probably damaging Het
Igsf10 T C 3: 59,238,945 (GRCm39) E412G probably damaging Het
Il4ra G T 7: 125,175,086 (GRCm39) L431F possibly damaging Het
Ilrun A T 17: 28,005,043 (GRCm39) probably null Het
Krt86 T A 15: 101,373,306 (GRCm39) L200Q probably damaging Het
Lpcat1 T A 13: 73,642,947 (GRCm39) F126I probably damaging Het
Prag1 A G 8: 36,567,085 (GRCm39) T79A probably benign Het
Pramel13 A T 4: 144,119,664 (GRCm39) I301N probably benign Het
Psg29 G T 7: 16,938,850 (GRCm39) L41F probably benign Het
Rai14 C T 15: 10,599,797 (GRCm39) probably benign Het
Rif1 A G 2: 52,001,315 (GRCm39) T1590A probably benign Het
Rorb A T 19: 18,934,692 (GRCm39) L300* probably null Het
Sin3b T C 8: 73,457,733 (GRCm39) C150R possibly damaging Het
Smarcc1 C A 9: 110,051,005 (GRCm39) H942N probably damaging Het
Tas2r105 A G 6: 131,664,074 (GRCm39) V118A probably benign Het
Tmem131 T C 1: 36,868,662 (GRCm39) S388G probably damaging Het
Ttll9 C A 2: 152,844,809 (GRCm39) probably benign Het
Ush1c A G 7: 45,859,325 (GRCm39) L498P probably damaging Het
Vmn2r100 A G 17: 19,741,618 (GRCm39) Y110C probably damaging Het
Zbtb11 T C 16: 55,826,370 (GRCm39) Y800H probably damaging Het
Zdhhc20 T A 14: 58,103,046 (GRCm39) E101V probably damaging Het
Other mutations in Reg3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00978:Reg3a APN 6 78,359,284 (GRCm39) nonsense probably null
IGL02231:Reg3a APN 6 78,359,224 (GRCm39) missense possibly damaging 0.85
IGL03057:Reg3a APN 6 78,358,939 (GRCm39) missense possibly damaging 0.86
R1778:Reg3a UTSW 6 78,360,269 (GRCm39) missense probably benign 0.11
R2122:Reg3a UTSW 6 78,358,119 (GRCm39) missense possibly damaging 0.73
R3110:Reg3a UTSW 6 78,358,114 (GRCm39) missense probably damaging 0.99
R3112:Reg3a UTSW 6 78,358,114 (GRCm39) missense probably damaging 0.99
R4011:Reg3a UTSW 6 78,360,553 (GRCm39) missense probably damaging 0.99
R4868:Reg3a UTSW 6 78,358,883 (GRCm39) missense probably damaging 0.96
R5339:Reg3a UTSW 6 78,360,522 (GRCm39) critical splice acceptor site probably null
R6885:Reg3a UTSW 6 78,358,038 (GRCm39) splice site probably null
R6994:Reg3a UTSW 6 78,358,132 (GRCm39) missense probably benign 0.00
R7480:Reg3a UTSW 6 78,359,330 (GRCm39) missense probably damaging 1.00
R7998:Reg3a UTSW 6 78,358,132 (GRCm39) missense probably benign 0.00
R9659:Reg3a UTSW 6 78,360,574 (GRCm39) missense possibly damaging 0.83
Posted On 2013-06-21