Incidental Mutation 'IGL01069:Sidt2'
ID 51866
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 # IGL01069
Quality Score
Status
Chromosome 9
Chromosomal Location 45849155-45866556 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45854375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 616 (V616I)
Ref Sequence ENSEMBL: ENSMUSP00000044290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038488] [ENSMUST00000114573] [ENSMUST00000160138] [ENSMUST00000160618] [ENSMUST00000162379] [ENSMUST00000162072] [ENSMUST00000162529]
AlphaFold Q8CIF6
Predicted Effect possibly damaging
Transcript: ENSMUST00000038488
AA Change: V616I

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000044290
Gene: ENSMUSG00000034908
AA Change: V616I

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:SID-1_RNA_chan 169 832 8.5e-214 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114573
AA Change: V637I

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110220
Gene: ENSMUSG00000034908
AA Change: V637I

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: ENSMUST00000160927
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160670
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184840
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: 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: ENSMUST00000161042
SMART Domains Protein: ENSMUSP00000124577
Gene: ENSMUSG00000034908

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
1700123K08Rik C T 5: 138,560,751 (GRCm39) A215T probably benign Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Apc2 G A 10: 80,147,820 (GRCm39) C929Y probably damaging Het
Arap2 T C 5: 62,807,199 (GRCm39) H1156R probably benign Het
Arhgap9 A G 10: 127,164,821 (GRCm39) T582A probably damaging Het
Ccdc57 T A 11: 120,752,085 (GRCm39) H832L probably benign Het
Ces3b T C 8: 105,818,206 (GRCm39) S92P probably benign Het
Ces5a A G 8: 94,252,172 (GRCm39) probably null Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cpb2 T A 14: 75,508,215 (GRCm39) D225E probably damaging Het
Cpne8 C T 15: 90,499,313 (GRCm39) probably null Het
Cux2 G A 5: 122,005,414 (GRCm39) T924M possibly damaging Het
Dtl T A 1: 191,293,651 (GRCm39) probably null Het
Dysf T A 6: 84,176,767 (GRCm39) I1912N possibly damaging Het
Edc4 T A 8: 106,613,766 (GRCm39) F369I probably benign Het
Fibcd1 T C 2: 31,711,531 (GRCm39) E298G probably benign Het
Focad C A 4: 88,244,383 (GRCm39) H788N unknown Het
Frem1 C T 4: 82,932,104 (GRCm39) R199H probably benign Het
Gadl1 T C 9: 115,783,907 (GRCm39) probably null Het
Hipk1 G A 3: 103,685,015 (GRCm39) T200I possibly damaging Het
Ighv14-2 C T 12: 113,958,379 (GRCm39) V21I possibly damaging Het
Kank4 A T 4: 98,666,632 (GRCm39) I605N probably damaging Het
Krt88 T G 15: 101,351,508 (GRCm39) *172G probably null Het
Lmf2 C A 15: 89,237,091 (GRCm39) A408S probably benign Het
Lsm12 T C 11: 102,054,896 (GRCm39) probably benign Het
Myo3b A G 2: 70,075,735 (GRCm39) I580V probably benign Het
Myt1 T C 2: 181,467,749 (GRCm39) M1061T probably damaging Het
Nup133 G A 8: 124,657,721 (GRCm39) R405* probably null Het
Or1ad1 A T 11: 50,875,830 (GRCm39) I101F possibly damaging Het
Or5m3 A G 2: 85,838,891 (GRCm39) Y257C probably damaging Het
Or8g2 A T 9: 39,821,902 (GRCm39) M268L possibly damaging Het
Pcnx1 A G 12: 81,964,918 (GRCm39) R362G probably benign Het
Pomt2 G T 12: 87,157,078 (GRCm39) T747K probably damaging Het
Rgma G A 7: 73,067,239 (GRCm39) A165T probably damaging Het
Rhbdf2 T C 11: 116,492,577 (GRCm39) D437G possibly damaging Het
Rpl5 T C 5: 108,055,145 (GRCm39) probably null Het
Rtkn2 A G 10: 67,877,494 (GRCm39) D518G probably benign Het
Sclt1 T C 3: 41,696,426 (GRCm39) probably benign Het
Ska2 A G 11: 87,000,091 (GRCm39) probably benign Het
Slc13a4 C A 6: 35,245,817 (GRCm39) L609F probably damaging Het
Sorbs3 T C 14: 70,428,604 (GRCm39) E390G probably damaging Het
Syt15 T C 14: 33,946,881 (GRCm39) V220A possibly damaging Het
Tob1 T C 11: 94,104,881 (GRCm39) F139S probably damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* 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
IGL00786:Sidt2 APN 9 45,861,101 (GRCm39) missense possibly damaging 0.69
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 2013-06-21