Incidental Mutation 'IGL00786:Sidt2'
ID 14015
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sidt2
Ensembl Gene ENSMUSG00000034908
Gene Name SID1 transmembrane family, member 2
Synonyms CGI-40
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # IGL00786
Quality Score
Status
Chromosome 9
Chromosomal Location 45849155-45866556 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45861101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 71 (S71P)
Ref Sequence ENSEMBL: ENSMUSP00000125060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038488] [ENSMUST00000114573] [ENSMUST00000160138] [ENSMUST00000160618] [ENSMUST00000162529] [ENSMUST00000162072] [ENSMUST00000162379]
AlphaFold Q8CIF6
Predicted Effect possibly damaging
Transcript: ENSMUST00000038488
AA Change: S281P

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000044290
Gene: ENSMUSG00000034908
AA Change: S281P

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:SID-1_RNA_chan 169 832 8.5e-214 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000114573
AA Change: S281P

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110220
Gene: ENSMUSG00000034908
AA Change: S281P

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:SID-1_RNA_chan 169 853 9e-290 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 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: ENSMUST00000160911
Predicted Effect possibly damaging
Transcript: ENSMUST00000162529
AA Change: S71P

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000125060
Gene: ENSMUSG00000034908
AA Change: S71P

DomainStartEndE-ValueType
Pfam:SID-1_RNA_chan 1 135 9.2e-20 PFAM
low complexity region 202 213 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000162072
AA Change: S281P

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000124750
Gene: ENSMUSG00000034908
AA Change: S281P

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
AA Change: S93P

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124503
Gene: ENSMUSG00000034908
AA Change: S93P

DomainStartEndE-ValueType
Pfam:SID-1_RNA_chan 1 135 3.3e-29 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000161606
AA Change: S51P
SMART Domains Protein: ENSMUSP00000125660
Gene: ENSMUSG00000034908
AA Change: S51P

DomainStartEndE-ValueType
Pfam:SID-1_RNA_chan 1 221 4.7e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160927
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216147
Predicted Effect probably benign
Transcript: ENSMUST00000161042
SMART Domains Protein: ENSMUSP00000124577
Gene: ENSMUSG00000034908

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T C 2: 35,265,851 (GRCm39) N242S probably benign Het
Akap9 C A 5: 4,120,522 (GRCm39) A3646E probably damaging Het
Akt1 C A 12: 112,624,105 (GRCm39) G233V probably damaging Het
B3gat3 A G 19: 8,904,149 (GRCm39) E320G probably benign Het
Bltp3a T A 17: 28,098,266 (GRCm39) I136N probably damaging Het
Bpifa5 G A 2: 154,009,172 (GRCm39) C238Y probably damaging Het
Camkmt T C 17: 85,403,919 (GRCm39) V47A probably damaging Het
Ccnl2 C T 4: 155,905,337 (GRCm39) R284W probably damaging Het
Chl1 G T 6: 103,652,106 (GRCm39) V341F probably damaging Het
Cst3 A T 2: 148,714,797 (GRCm39) C93* probably null Het
Ctsh T C 9: 89,946,291 (GRCm39) V119A probably damaging Het
Dmap1 C T 4: 117,533,593 (GRCm39) R225Q possibly damaging Het
Ehbp1 A G 11: 22,050,460 (GRCm39) S479P possibly damaging Het
Eml2 A G 7: 18,936,507 (GRCm39) Y528C probably damaging Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
G6pc3 A G 11: 102,083,931 (GRCm39) M186V probably benign Het
Gpr37 A G 6: 25,669,317 (GRCm39) V509A possibly damaging Het
Heatr5b G T 17: 79,132,063 (GRCm39) H347N possibly damaging Het
Idh1 A G 1: 65,205,402 (GRCm39) S188P probably damaging Het
Mphosph8 T C 14: 56,910,001 (GRCm39) V118A probably benign Het
Mthfsd C T 8: 121,831,207 (GRCm39) R91Q probably damaging Het
Otor G A 2: 142,921,846 (GRCm39) V86I probably damaging Het
Pdk2 T A 11: 94,922,761 (GRCm39) T140S probably benign Het
Pnliprp2 A G 19: 58,748,929 (GRCm39) N78S probably benign Het
Rimbp3 C T 16: 17,029,552 (GRCm39) T992M probably damaging Het
Sdad1 A T 5: 92,451,632 (GRCm39) probably null Het
Slc44a2 T A 9: 21,257,231 (GRCm39) V390E probably damaging Het
Tmem168 T C 6: 13,602,674 (GRCm39) I231V probably benign Het
Vim T C 2: 13,583,321 (GRCm39) probably null Het
Other mutations in Sidt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Sidt2 APN 9 45,853,534 (GRCm39) missense possibly damaging 0.84
IGL00586:Sidt2 APN 9 45,854,350 (GRCm39) missense possibly damaging 0.78
IGL01069:Sidt2 APN 9 45,854,375 (GRCm39) missense possibly damaging 0.73
IGL01160:Sidt2 APN 9 45,854,024 (GRCm39) missense probably damaging 1.00
IGL01474:Sidt2 APN 9 45,858,280 (GRCm39) critical splice donor site probably null
IGL02068:Sidt2 APN 9 45,856,962 (GRCm39) critical splice donor site probably null
IGL02171:Sidt2 APN 9 45,864,068 (GRCm39) missense possibly damaging 0.81
IGL02312:Sidt2 APN 9 45,858,299 (GRCm39) missense probably benign 0.27
IGL02344:Sidt2 APN 9 45,856,590 (GRCm39) missense probably null 1.00
IGL03030:Sidt2 APN 9 45,850,803 (GRCm39) missense probably damaging 1.00
IGL03062:Sidt2 APN 9 45,853,981 (GRCm39) critical splice donor site probably null
R0157:Sidt2 UTSW 9 45,850,565 (GRCm39) missense probably damaging 1.00
R0330:Sidt2 UTSW 9 45,866,200 (GRCm39) missense probably benign 0.09
R0549:Sidt2 UTSW 9 45,864,417 (GRCm39) splice site probably null
R0714:Sidt2 UTSW 9 45,858,358 (GRCm39) splice site probably benign
R1241:Sidt2 UTSW 9 45,857,002 (GRCm39) missense probably damaging 0.97
R1511:Sidt2 UTSW 9 45,861,387 (GRCm39) missense probably damaging 1.00
R1558:Sidt2 UTSW 9 45,863,098 (GRCm39) missense probably damaging 1.00
R1677:Sidt2 UTSW 9 45,864,517 (GRCm39) missense probably benign 0.01
R2152:Sidt2 UTSW 9 45,856,638 (GRCm39) missense probably damaging 1.00
R2153:Sidt2 UTSW 9 45,856,638 (GRCm39) missense probably damaging 1.00
R2154:Sidt2 UTSW 9 45,856,638 (GRCm39) missense probably damaging 1.00
R4210:Sidt2 UTSW 9 45,854,073 (GRCm39) missense probably benign 0.00
R4349:Sidt2 UTSW 9 45,857,011 (GRCm39) missense possibly damaging 0.94
R4855:Sidt2 UTSW 9 45,863,327 (GRCm39) missense probably benign
R5069:Sidt2 UTSW 9 45,850,759 (GRCm39) splice site probably null
R5175:Sidt2 UTSW 9 45,863,086 (GRCm39) missense probably damaging 1.00
R5276:Sidt2 UTSW 9 45,866,075 (GRCm39) missense probably damaging 0.97
R5544:Sidt2 UTSW 9 45,855,753 (GRCm39) missense probably damaging 1.00
R5805:Sidt2 UTSW 9 45,853,497 (GRCm39) missense probably damaging 0.97
R5927:Sidt2 UTSW 9 45,855,752 (GRCm39) missense probably damaging 1.00
R6954:Sidt2 UTSW 9 45,864,148 (GRCm39) missense probably benign 0.01
R7060:Sidt2 UTSW 9 45,864,544 (GRCm39) missense possibly damaging 0.91
R7117:Sidt2 UTSW 9 45,864,517 (GRCm39) missense probably benign 0.01
R7207:Sidt2 UTSW 9 45,856,449 (GRCm39) missense probably damaging 1.00
R7317:Sidt2 UTSW 9 45,854,988 (GRCm39) nonsense probably null
R7765:Sidt2 UTSW 9 45,852,873 (GRCm39) splice site probably null
R8098:Sidt2 UTSW 9 45,857,028 (GRCm39) missense probably benign 0.05
R9039:Sidt2 UTSW 9 45,856,648 (GRCm39) missense probably benign 0.05
R9157:Sidt2 UTSW 9 45,852,658 (GRCm39) missense possibly damaging 0.58
R9160:Sidt2 UTSW 9 45,858,280 (GRCm39) critical splice donor site probably null
R9261:Sidt2 UTSW 9 45,861,396 (GRCm39) missense probably damaging 0.99
R9313:Sidt2 UTSW 9 45,852,658 (GRCm39) missense possibly damaging 0.58
R9641:Sidt2 UTSW 9 45,864,495 (GRCm39) missense probably benign 0.00
R9792:Sidt2 UTSW 9 45,850,563 (GRCm39) missense probably damaging 0.97
R9793:Sidt2 UTSW 9 45,850,563 (GRCm39) missense probably damaging 0.97
R9803:Sidt2 UTSW 9 45,854,912 (GRCm39) missense probably damaging 1.00
X0026:Sidt2 UTSW 9 45,850,597 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06