Incidental Mutation 'IGL01160:Sidt2'
ID53747
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sidt2
Ensembl Gene ENSMUSG00000034908
Gene NameSID1 transmembrane family, member 2
SynonymsCGI-40
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.214) question?
Stock #IGL01160
Quality Score
Status
Chromosome9
Chromosomal Location45937857-45955258 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 45942726 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 647 (L647P)
Ref Sequence ENSEMBL: ENSMUSP00000044290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038488] [ENSMUST00000114573] [ENSMUST00000160138] [ENSMUST00000160618] [ENSMUST00000162072] [ENSMUST00000162379] [ENSMUST00000162529]
Predicted Effect probably damaging
Transcript: ENSMUST00000038488
AA Change: L647P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044290
Gene: ENSMUSG00000034908
AA Change: L647P

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:SID-1_RNA_chan 169 832 8.5e-214 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114573
AA Change: L668P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110220
Gene: ENSMUSG00000034908
AA Change: L668P

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:SID-1_RNA_chan 169 853 9e-290 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159033
SMART Domains Protein: ENSMUSP00000125273
Gene: ENSMUSG00000034908

DomainStartEndE-ValueType
low complexity region 12 29 N/A INTRINSIC
Pfam:SID-1_RNA_chan 30 74 1e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160138
SMART Domains Protein: ENSMUSP00000124945
Gene: ENSMUSG00000034908

DomainStartEndE-ValueType
low complexity region 131 142 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160598
Predicted Effect probably benign
Transcript: ENSMUST00000160618
SMART Domains Protein: ENSMUSP00000125037
Gene: ENSMUSG00000034908

DomainStartEndE-ValueType
low complexity region 36 47 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160670
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160927
Predicted Effect probably benign
Transcript: ENSMUST00000161042
SMART Domains Protein: ENSMUSP00000124577
Gene: ENSMUSG00000034908

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161606
SMART Domains Protein: ENSMUSP00000125660
Gene: ENSMUSG00000034908

DomainStartEndE-ValueType
Pfam:SID-1_RNA_chan 1 221 4.7e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162072
SMART Domains Protein: ENSMUSP00000124750
Gene: ENSMUSG00000034908

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:SID-1_RNA_chan 169 338 2.3e-34 PFAM
low complexity region 452 463 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162379
SMART Domains Protein: ENSMUSP00000124503
Gene: ENSMUSG00000034908

DomainStartEndE-ValueType
Pfam:SID-1_RNA_chan 1 135 3.3e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162529
SMART Domains Protein: ENSMUSP00000125060
Gene: ENSMUSG00000034908

DomainStartEndE-ValueType
Pfam:SID-1_RNA_chan 1 135 9.2e-20 PFAM
low complexity region 202 213 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184840
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted allele exhibit male-specific decreased body weight and size, impaired glucose tolerance, increased serum glucose, decreased serum insulin and decreased insule granule release from beta cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210016F16Rik A G 13: 58,381,976 V274A probably damaging Het
Atp11a A G 8: 12,844,609 T188A probably damaging Het
Bfsp2 A G 9: 103,480,168 V20A probably benign Het
Btn1a1 G A 13: 23,461,737 T154M possibly damaging Het
Ccdc117 T C 11: 5,531,532 S200G probably benign Het
Col24a1 G A 3: 145,507,713 G1358S probably damaging Het
Crlf2 T C 5: 109,557,570 T40A possibly damaging Het
Cstf2 T A X: 134,060,729 probably benign Het
Dcdc2a A G 13: 25,119,329 D281G probably benign Het
Dmd T C X: 83,924,961 L1855P probably damaging Het
Dnajc5g T C 5: 31,110,185 V112A probably benign Het
Dnmt1 G A 9: 20,917,319 P828S possibly damaging Het
Dock3 A T 9: 106,906,688 S268R probably damaging Het
Dpep2 C T 8: 105,986,444 V440M possibly damaging Het
F8 A T X: 75,288,061 M741K probably damaging Het
Fermt3 C T 19: 7,003,258 probably null Het
Fosb A G 7: 19,307,114 probably null Het
Gm14085 A C 2: 122,524,796 probably null Het
Gm3238 C A 10: 77,770,883 probably benign Het
Hyal5 T A 6: 24,876,481 S118T possibly damaging Het
Igf2r T C 17: 12,704,775 D1140G possibly damaging Het
Ighmbp2 G T 19: 3,276,750 probably benign Het
Irf3 C A 7: 44,998,796 D28E possibly damaging Het
Ly6i A T 15: 74,980,032 I96N possibly damaging Het
Macrod2 T C 2: 140,825,042 probably benign Het
Olfr1222 A T 2: 89,125,728 M1K probably null Het
Olfr124 A G 17: 37,806,050 R302G probably benign Het
Olfr1309 A G 2: 111,983,933 L47P probably damaging Het
Olfr67 C T 7: 103,787,636 G214R probably damaging Het
Otof A T 5: 30,381,535 M1128K probably benign Het
Parp9 A T 16: 35,947,998 I183F probably damaging Het
Pbsn T C X: 77,842,571 N147S probably benign Het
Pcf11 A G 7: 92,661,686 S365P possibly damaging Het
Pcnx4 T G 12: 72,579,377 V1119G probably damaging Het
Rsf1 C T 7: 97,685,584 T1308M probably damaging Het
Slc7a8 A G 14: 54,735,124 V280A probably benign Het
Spg20 T A 3: 55,121,756 F323I probably damaging Het
Supt16 A T 14: 52,183,132 D70E probably benign Het
Tmc4 T C 7: 3,675,518 Y38C possibly damaging Het
Tmco5b G T 2: 113,287,798 probably benign Het
Trav10 G A 14: 53,505,782 probably benign Het
Vmn2r28 A T 7: 5,486,478 M454K probably damaging Het
Vmn2r85 T C 10: 130,418,821 T665A probably benign Het
Yipf7 T C 5: 69,519,317 I160V probably benign Het
Zc3h18 T C 8: 122,408,250 probably benign Het
Zfp429 G A 13: 67,391,013 S91L probably damaging Het
Other mutations in Sidt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Sidt2 APN 9 45942236 missense possibly damaging 0.84
IGL00586:Sidt2 APN 9 45943052 missense possibly damaging 0.78
IGL00786:Sidt2 APN 9 45949803 missense possibly damaging 0.69
IGL01069:Sidt2 APN 9 45943077 missense possibly damaging 0.73
IGL01474:Sidt2 APN 9 45946982 critical splice donor site probably null
IGL02068:Sidt2 APN 9 45945664 critical splice donor site probably null
IGL02171:Sidt2 APN 9 45952770 missense possibly damaging 0.81
IGL02312:Sidt2 APN 9 45947001 missense probably benign 0.27
IGL02344:Sidt2 APN 9 45945292 missense probably null 1.00
IGL03030:Sidt2 APN 9 45939505 missense probably damaging 1.00
IGL03062:Sidt2 APN 9 45942683 critical splice donor site probably null
R0157:Sidt2 UTSW 9 45939267 missense probably damaging 1.00
R0330:Sidt2 UTSW 9 45954902 missense probably benign 0.09
R0549:Sidt2 UTSW 9 45953119 splice site probably null
R0714:Sidt2 UTSW 9 45947060 splice site probably benign
R1241:Sidt2 UTSW 9 45945704 missense probably damaging 0.97
R1511:Sidt2 UTSW 9 45950089 missense probably damaging 1.00
R1558:Sidt2 UTSW 9 45951800 missense probably damaging 1.00
R1677:Sidt2 UTSW 9 45953219 missense probably benign 0.01
R2152:Sidt2 UTSW 9 45945340 missense probably damaging 1.00
R2153:Sidt2 UTSW 9 45945340 missense probably damaging 1.00
R2154:Sidt2 UTSW 9 45945340 missense probably damaging 1.00
R4210:Sidt2 UTSW 9 45942775 missense probably benign 0.00
R4349:Sidt2 UTSW 9 45945713 missense possibly damaging 0.94
R4855:Sidt2 UTSW 9 45952029 missense probably benign
R5069:Sidt2 UTSW 9 45939461 splice site probably null
R5175:Sidt2 UTSW 9 45951788 missense probably damaging 1.00
R5276:Sidt2 UTSW 9 45954777 missense probably damaging 0.97
R5544:Sidt2 UTSW 9 45944455 missense probably damaging 1.00
R5805:Sidt2 UTSW 9 45942199 missense probably damaging 0.97
R5927:Sidt2 UTSW 9 45944454 missense probably damaging 1.00
R6954:Sidt2 UTSW 9 45952850 missense probably benign 0.01
R7060:Sidt2 UTSW 9 45953246 missense possibly damaging 0.91
R7117:Sidt2 UTSW 9 45953219 missense probably benign 0.01
R7207:Sidt2 UTSW 9 45945151 missense probably damaging 1.00
R7317:Sidt2 UTSW 9 45943690 nonsense probably null
R7765:Sidt2 UTSW 9 45941575 splice site probably null
R8098:Sidt2 UTSW 9 45945730 missense probably benign 0.05
X0026:Sidt2 UTSW 9 45939299 missense probably damaging 1.00
Posted On2013-06-28