Incidental Mutation 'IGL02231:Reg3a'
ID 285708
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
Is this an essential gene? Probably non essential (E-score: 0.048) question?
Stock # IGL02231
Quality Score
Status
Chromosome 6
Chromosomal Location 78380709-78383827 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 78382241 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 75 (H75Y)
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 possibly damaging
Transcript: ENSMUST00000101272
AA Change: H75Y

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000098829
Gene: ENSMUSG00000079516
AA Change: H75Y

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik G A 11: 78,279,896 G1647D probably benign Het
Alcam T A 16: 52,274,050 probably benign Het
Alox15 A C 11: 70,349,556 D266E probably benign Het
Atcay A T 10: 81,210,548 V314E probably damaging Het
Atp8b1 C T 18: 64,550,384 G758R possibly damaging Het
Cacna2d4 T A 6: 119,277,908 probably benign Het
Celsr3 T C 9: 108,842,510 V2429A probably damaging Het
Clspn T G 4: 126,559,228 D11E probably damaging Het
Cnot3 A G 7: 3,658,210 T573A probably benign Het
Cyp2d34 A T 15: 82,618,606 S140T probably benign Het
Edem1 A G 6: 108,828,888 D50G probably benign Het
Emilin3 G A 2: 160,908,515 T438I probably damaging Het
Etfdh C T 3: 79,618,393 V173I probably damaging Het
Fat2 T C 11: 55,281,092 T2932A probably damaging Het
Fcrl1 G A 3: 87,385,162 E154K possibly damaging Het
Fcrl1 A T 3: 87,385,163 E154V probably damaging Het
G3bp1 T A 11: 55,495,447 L244* probably null Het
Itgae A T 11: 73,090,622 K2M possibly damaging Het
Kcnq2 T C 2: 181,081,715 I654V probably benign Het
Ksr2 C T 5: 117,500,776 R82C probably damaging Het
Lrig3 A T 10: 125,997,172 D305V probably damaging Het
Me1 T C 9: 86,611,855 K322E possibly damaging Het
Med12l T A 3: 59,245,882 D1109E probably damaging Het
Mest A G 6: 30,740,773 K73E possibly damaging Het
Nup155 T G 15: 8,144,064 L881R probably damaging Het
Ocln A T 13: 100,541,114 S2T probably damaging Het
Oosp3 T C 19: 11,699,439 L54S probably damaging Het
Pkp3 G A 7: 141,084,238 E443K probably damaging Het
Plk2 T A 13: 110,400,069 C632S probably benign Het
Ptk6 C T 2: 181,197,001 V320I probably damaging Het
Ptprt A T 2: 162,238,060 I273N probably damaging Het
Ptprt A G 2: 162,278,046 probably null Het
Rab3gap2 T C 1: 185,266,898 probably benign Het
Rabgef1 G A 5: 130,211,975 A312T probably damaging Het
Rabl6 T A 2: 25,598,184 K109N probably benign Het
Rbp7 C T 4: 149,454,877 probably null Het
Rnf123 G T 9: 108,066,399 P546T probably benign Het
Rnmt C A 18: 68,314,081 C345* probably null Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Slc14a2 C T 18: 78,209,021 S25N possibly damaging Het
Spata16 G T 3: 26,913,264 G388W probably damaging Het
Speg C T 1: 75,423,387 R2493W probably damaging Het
Thada T A 17: 84,428,697 D970V probably damaging Het
Tmem184c A G 8: 77,604,812 Y103H probably damaging Het
Ttn A T 2: 76,798,096 D12827E probably damaging Het
Utp20 A G 10: 88,791,168 L976S probably damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zfp936 T A 7: 43,187,485 probably null 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
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
R9659:Reg3a UTSW 6 78383591 missense possibly damaging 0.83
Posted On 2015-04-16