Incidental Mutation 'R1558:Sidt2'
ID 170425
Institutional Source Beutler Lab
Gene Symbol Sidt2
Ensembl Gene ENSMUSG00000034908
Gene Name SID1 transmembrane family, member 2
Synonyms CGI-40
MMRRC Submission 039597-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # R1558 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 45849155-45866556 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45863098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 11 (M11K)
Ref Sequence ENSEMBL: ENSMUSP00000125060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038488] [ENSMUST00000114573] [ENSMUST00000160138] [ENSMUST00000162379] [ENSMUST00000162529] [ENSMUST00000162072]
AlphaFold Q8CIF6
Predicted Effect probably damaging
Transcript: ENSMUST00000038488
AA Change: M221K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000044290
Gene: ENSMUSG00000034908
AA Change: M221K

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: M221K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110220
Gene: ENSMUSG00000034908
AA Change: M221K

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 noncoding transcript
Transcript: ENSMUST00000160670
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160911
Predicted Effect probably benign
Transcript: ENSMUST00000161042
SMART Domains Protein: ENSMUSP00000124577
Gene: ENSMUSG00000034908

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000162379
AA Change: M33K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124503
Gene: ENSMUSG00000034908
AA Change: M33K

DomainStartEndE-ValueType
Pfam:SID-1_RNA_chan 1 135 3.3e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162529
AA Change: M11K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125060
Gene: ENSMUSG00000034908
AA Change: M11K

DomainStartEndE-ValueType
Pfam:SID-1_RNA_chan 1 135 9.2e-20 PFAM
low complexity region 202 213 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162072
AA Change: M221K

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124750
Gene: ENSMUSG00000034908
AA Change: M221K

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 noncoding transcript
Transcript: ENSMUST00000216147
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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.6%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T A 4: 53,092,887 (GRCm39) Q299L probably null Het
Adamts9 T G 6: 92,885,692 (GRCm39) K399N possibly damaging Het
Alox12b T C 11: 69,056,711 (GRCm39) F369S probably damaging Het
Alpk2 A G 18: 65,483,301 (GRCm39) Y236H probably benign Het
Ankrd36 T C 11: 5,585,329 (GRCm39) L380P probably damaging Het
Atp2a1 C T 7: 126,051,844 (GRCm39) A468T possibly damaging Het
Caprin1 A T 2: 103,606,332 (GRCm39) F303I possibly damaging Het
Casp7 A T 19: 56,421,684 (GRCm39) R41* probably null Het
Ccdc66 T A 14: 27,208,463 (GRCm39) H753L probably benign Het
Ccnc T C 4: 21,742,671 (GRCm39) M166T probably benign Het
Cdkl3 T A 11: 51,923,337 (GRCm39) M538K possibly damaging Het
Cemip2 T A 19: 21,775,346 (GRCm39) Y196* probably null Het
Cercam G A 2: 29,766,251 (GRCm39) A345T probably benign Het
Chmp3 T A 6: 71,537,954 (GRCm39) C60* probably null Het
Ddx1 C T 12: 13,289,542 (GRCm39) G125S probably damaging Het
Defb7 A G 8: 19,547,567 (GRCm39) D24G probably benign Het
Dgcr8 A T 16: 18,077,452 (GRCm39) Y653N probably damaging Het
Dsc2 T C 18: 20,183,208 (GRCm39) D70G probably damaging Het
Erich3 T G 3: 154,419,705 (GRCm39) N266K probably damaging Het
Fastk A T 5: 24,649,045 (GRCm39) probably null Het
Fat4 A G 3: 38,943,135 (GRCm39) N676S probably damaging Het
Fermt1 A T 2: 132,776,739 (GRCm39) probably null Het
Fmn1 A G 2: 113,523,463 (GRCm39) T1149A possibly damaging Het
Foxo3 A G 10: 42,073,068 (GRCm39) V483A probably damaging Het
Fpgs T C 2: 32,575,852 (GRCm39) T364A possibly damaging Het
Gm12185 A G 11: 48,806,262 (GRCm39) S310P probably damaging Het
Gm15056 A T 8: 21,391,949 (GRCm39) probably benign Het
Hcn1 T C 13: 118,112,112 (GRCm39) V692A unknown Het
Izumo3 A C 4: 92,035,140 (GRCm39) C26G probably damaging Het
Kcnf1 T C 12: 17,225,474 (GRCm39) Y249C probably damaging Het
Kcnj6 T C 16: 94,563,358 (GRCm39) E380G possibly damaging Het
Kdm3b A G 18: 34,942,149 (GRCm39) T747A probably damaging Het
Lrba G A 3: 86,258,622 (GRCm39) G1370R probably damaging Het
Mei1 G A 15: 81,991,334 (GRCm39) R504Q probably damaging Het
Mgat4f G A 1: 134,318,512 (GRCm39) G428D probably damaging Het
Mipol1 T C 12: 57,379,127 (GRCm39) I195T probably damaging Het
Ncor2 G A 5: 125,110,610 (GRCm39) T1350I probably damaging Het
Npy A G 6: 49,800,705 (GRCm39) E43G probably damaging Het
Or4e5 T A 14: 52,727,603 (GRCm39) I273F probably benign Het
Or5w19 T A 2: 87,698,459 (GRCm39) N41K probably damaging Het
Or8d2 T A 9: 38,760,200 (GRCm39) N263K probably benign Het
Pcdhb3 T C 18: 37,434,634 (GRCm39) L200P probably damaging Het
Pcnt G A 10: 76,258,756 (GRCm39) H570Y possibly damaging Het
Phf8-ps T A 17: 33,284,679 (GRCm39) I708F probably benign Het
Pkd1l2 A C 8: 117,808,991 (GRCm39) D66E possibly damaging Het
Plekhg4 A G 8: 106,108,467 (GRCm39) D1170G possibly damaging Het
Poln T A 5: 34,190,143 (GRCm39) H672L probably benign Het
Ptprq T C 10: 107,479,904 (GRCm39) Y1122C probably damaging Het
Ptrhd1 A G 12: 4,286,505 (GRCm39) Y132C probably damaging Het
Pwwp3a G T 10: 80,068,778 (GRCm39) R307S probably benign Het
Riok1 G T 13: 38,234,831 (GRCm39) R300L probably damaging Het
Sbf2 G T 7: 110,027,553 (GRCm39) T481K probably damaging Het
Slc66a1 A T 4: 139,027,391 (GRCm39) probably benign Het
Syne1 G A 10: 5,299,280 (GRCm39) R992* probably null Het
Tmem8b C A 4: 43,681,134 (GRCm39) R384S possibly damaging Het
Trim28 T C 7: 12,761,761 (GRCm39) Y243H probably damaging Het
Trpm6 T C 19: 18,764,192 (GRCm39) M266T probably benign Het
Tsg101 A T 7: 46,539,437 (GRCm39) S368T probably damaging Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Ttc6 G A 12: 57,733,132 (GRCm39) V1092I probably benign Het
Vps13b C T 15: 35,534,465 (GRCm39) T927I probably damaging Het
Zfr C T 15: 12,140,730 (GRCm39) T259I unknown 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
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
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
Predicted Primers PCR Primer
(F):5'- TTCTCAGGCAGCACAAGGTCAAG -3'
(R):5'- GATGTTCACGGTCAAGGCTCTTCTC -3'

Sequencing Primer
(F):5'- CAGCACAAGGTCAAGTGAAAAAG -3'
(R):5'- TTGTCAAGGTGACCTCCAAG -3'
Posted On 2014-04-13