Incidental Mutation 'IGL01599:Syndig1'
ID 92036
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Syndig1
Ensembl Gene ENSMUSG00000074736
Gene Name synapse differentiation inducing 1
Synonyms Tmem90b, SynDIG1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # IGL01599
Quality Score
Status
Chromosome 2
Chromosomal Location 149829211-150004392 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 150003283 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 242 (V242E)
Ref Sequence ENSEMBL: ENSMUSP00000105561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109934] [ENSMUST00000109935]
AlphaFold A2ANU3
Predicted Effect probably damaging
Transcript: ENSMUST00000109934
AA Change: V242E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105560
Gene: ENSMUSG00000074736
AA Change: V242E

DomainStartEndE-ValueType
Pfam:Dispanin 164 246 5.8e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109935
AA Change: V242E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105561
Gene: ENSMUSG00000074736
AA Change: V242E

DomainStartEndE-ValueType
low complexity region 151 171 N/A INTRINSIC
Pfam:CD225 172 244 7.9e-22 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the interferon-induced transmembrane family of proteins. A similar protein in rat is thought to regulate the development of excitatory synapses. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr3 T C 1: 90,214,134 V105A probably benign Het
Acr T C 15: 89,568,414 V18A probably benign Het
Adgra2 G A 8: 27,118,733 A540T possibly damaging Het
Aldh16a1 A G 7: 45,142,093 F753L probably damaging Het
Ankfy1 T A 11: 72,738,365 Y338N probably benign Het
Aox3 C T 1: 58,169,794 R829C probably damaging Het
Arhgef11 T C 3: 87,737,046 S1535P probably benign Het
C4b A G 17: 34,743,019 probably benign Het
Ccdc157 A G 11: 4,148,781 C242R probably damaging Het
Cep135 T A 5: 76,593,347 M90K possibly damaging Het
Cfap36 A T 11: 29,244,057 probably null Het
Chl1 A G 6: 103,708,484 T829A probably benign Het
Copb2 T C 9: 98,581,150 S473P probably damaging Het
Cpb1 C T 3: 20,251,954 probably null Het
Cpsf1 A G 15: 76,596,541 L1295P probably damaging Het
Dmp1 C T 5: 104,212,462 Q335* probably null Het
Dyrk1a T A 16: 94,691,884 S621T possibly damaging Het
Exoc5 T A 14: 49,034,964 Q331L probably benign Het
Fmnl1 G A 11: 103,186,656 V287M probably damaging Het
Fras1 T C 5: 96,709,891 S2015P possibly damaging Het
Gm7052 T C 17: 22,040,004 probably benign Het
Gprc5c A G 11: 114,864,252 I252V probably benign Het
Ints3 C T 3: 90,394,322 probably null Het
L1td1 A G 4: 98,737,344 D592G probably damaging Het
Lamb3 A G 1: 193,343,412 M1137V probably benign Het
Leng8 C A 7: 4,145,482 A751E probably benign Het
Lfng T C 5: 140,612,535 V204A probably damaging Het
Lsm14b A G 2: 180,032,603 D233G probably damaging Het
Map4 C T 9: 110,034,768 P354S probably benign Het
Mapt G A 11: 104,294,915 V53M probably damaging Het
Mier1 T G 4: 103,155,541 S377A possibly damaging Het
Neurog1 T C 13: 56,251,847 D29G probably damaging Het
Npr3 G A 15: 11,895,789 A257V probably damaging Het
Nup188 T C 2: 30,327,525 V824A possibly damaging Het
Olfm4 T C 14: 80,021,310 S333P probably damaging Het
Olfr460 A C 6: 40,572,252 I289L probably damaging Het
Olfr849 T G 9: 19,441,815 F301V probably benign Het
Pbxip1 C A 3: 89,443,590 probably benign Het
Pde9a G T 17: 31,414,150 C38F probably damaging Het
Plb1 A T 5: 32,342,544 probably benign Het
Plcz1 T C 6: 140,002,256 probably benign Het
Plxnb1 T C 9: 109,110,604 V1447A probably damaging Het
Pnldc1 A T 17: 12,906,528 M73K probably benign Het
Psg20 C T 7: 18,681,038 V311M possibly damaging Het
Psmd2 G T 16: 20,659,405 probably null Het
Rabgap1 T C 2: 37,556,269 V859A probably damaging Het
Rad51b T A 12: 79,327,228 S194T probably benign Het
Rb1cc1 C T 1: 6,248,771 Q788* probably null Het
Ror2 C T 13: 53,111,617 G468R probably damaging Het
Slamf7 A G 1: 171,641,186 I46T possibly damaging Het
Stab2 A G 10: 86,922,895 S1060P probably damaging Het
Tgfbr3 G A 5: 107,118,451 T801M probably damaging Het
Tmem132c T C 5: 127,359,552 probably benign Het
Trav21-dv12 T C 14: 53,876,731 Y103H probably damaging Het
Ubr3 T C 2: 69,938,178 V443A probably damaging Het
Uhrf2 G T 19: 30,092,120 C749F probably damaging Het
Ulk2 G T 11: 61,791,436 S751* probably null Het
Wrn G A 8: 33,241,011 P1098S possibly damaging Het
Xrcc5 T C 1: 72,346,349 V533A possibly damaging Het
Zc3h13 T C 14: 75,309,723 S223P probably damaging Het
Zcchc11 T C 4: 108,513,399 S871P possibly damaging Het
Other mutations in Syndig1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01506:Syndig1 APN 2 149899757 missense probably damaging 1.00
IGL01814:Syndig1 APN 2 149899770 missense probably damaging 1.00
IGL01988:Syndig1 APN 2 150003170 splice site probably benign
IGL02323:Syndig1 APN 2 149899787 missense probably benign 0.00
R1445:Syndig1 UTSW 2 149930921 missense probably damaging 1.00
R1523:Syndig1 UTSW 2 150003234 missense probably damaging 1.00
R4825:Syndig1 UTSW 2 149899553 missense probably damaging 0.99
R4892:Syndig1 UTSW 2 149899891 missense probably damaging 1.00
R5643:Syndig1 UTSW 2 149899508 missense possibly damaging 0.78
R5644:Syndig1 UTSW 2 149899508 missense possibly damaging 0.78
R6386:Syndig1 UTSW 2 149899576 missense probably damaging 1.00
R6603:Syndig1 UTSW 2 150003288 missense probably damaging 1.00
R7941:Syndig1 UTSW 2 149899788 missense probably benign 0.37
R8177:Syndig1 UTSW 2 149899868 missense probably damaging 1.00
R9265:Syndig1 UTSW 2 150003240 missense probably damaging 0.98
R9340:Syndig1 UTSW 2 150003255 missense probably damaging 1.00
Posted On 2013-12-09