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: 0.099) question?
Stock # IGL01599
Quality Score
Status
Chromosome 2
Chromosomal Location 149672703-149846312 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 149845203 bp (GRCm39)
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: 90,141,856 (GRCm39) V105A probably benign Het
Acr T C 15: 89,452,617 (GRCm39) V18A probably benign Het
Adgra2 G A 8: 27,608,761 (GRCm39) A540T possibly damaging Het
Aldh16a1 A G 7: 44,791,517 (GRCm39) F753L probably damaging Het
Ankfy1 T A 11: 72,629,191 (GRCm39) Y338N probably benign Het
Aox3 C T 1: 58,208,953 (GRCm39) R829C probably damaging Het
Arhgef11 T C 3: 87,644,353 (GRCm39) S1535P probably benign Het
C4b A G 17: 34,961,993 (GRCm39) probably benign Het
Ccdc157 A G 11: 4,098,781 (GRCm39) C242R probably damaging Het
Cep135 T A 5: 76,741,194 (GRCm39) M90K possibly damaging Het
Cfap36 A T 11: 29,194,057 (GRCm39) probably null Het
Chl1 A G 6: 103,685,445 (GRCm39) T829A probably benign Het
Copb2 T C 9: 98,463,203 (GRCm39) S473P probably damaging Het
Cpb1 C T 3: 20,306,118 (GRCm39) probably null Het
Cpsf1 A G 15: 76,480,741 (GRCm39) L1295P probably damaging Het
Dmp1 C T 5: 104,360,328 (GRCm39) Q335* probably null Het
Dyrk1a T A 16: 94,492,743 (GRCm39) S621T possibly damaging Het
Exoc5 T A 14: 49,272,421 (GRCm39) Q331L probably benign Het
Fmnl1 G A 11: 103,077,482 (GRCm39) V287M probably damaging Het
Fras1 T C 5: 96,857,750 (GRCm39) S2015P possibly damaging Het
Gm7052 T C 17: 22,258,985 (GRCm39) probably benign Het
Gprc5c A G 11: 114,755,078 (GRCm39) I252V probably benign Het
Ints3 C T 3: 90,301,629 (GRCm39) probably null Het
L1td1 A G 4: 98,625,581 (GRCm39) D592G probably damaging Het
Lamb3 A G 1: 193,025,720 (GRCm39) M1137V probably benign Het
Leng8 C A 7: 4,148,481 (GRCm39) A751E probably benign Het
Lfng T C 5: 140,598,290 (GRCm39) V204A probably damaging Het
Lsm14b A G 2: 179,674,396 (GRCm39) D233G probably damaging Het
Map4 C T 9: 109,863,836 (GRCm39) P354S probably benign Het
Mapt G A 11: 104,185,741 (GRCm39) V53M probably damaging Het
Mier1 T G 4: 103,012,738 (GRCm39) S377A possibly damaging Het
Neurog1 T C 13: 56,399,660 (GRCm39) D29G probably damaging Het
Npr3 G A 15: 11,895,875 (GRCm39) A257V probably damaging Het
Nup188 T C 2: 30,217,537 (GRCm39) V824A possibly damaging Het
Olfm4 T C 14: 80,258,750 (GRCm39) S333P probably damaging Het
Or7g30 T G 9: 19,353,111 (GRCm39) F301V probably benign Het
Or9a4 A C 6: 40,549,186 (GRCm39) I289L probably damaging Het
Pbxip1 C A 3: 89,350,897 (GRCm39) probably benign Het
Pde9a G T 17: 31,633,124 (GRCm39) C38F probably damaging Het
Plb1 A T 5: 32,499,888 (GRCm39) probably benign Het
Plcz1 T C 6: 139,947,982 (GRCm39) probably benign Het
Plxnb1 T C 9: 108,939,672 (GRCm39) V1447A probably damaging Het
Pnldc1 A T 17: 13,125,415 (GRCm39) M73K probably benign Het
Psg20 C T 7: 18,414,963 (GRCm39) V311M possibly damaging Het
Psmd2 G T 16: 20,478,155 (GRCm39) probably null Het
Rabgap1 T C 2: 37,446,281 (GRCm39) V859A probably damaging Het
Rad51b T A 12: 79,374,002 (GRCm39) S194T probably benign Het
Rb1cc1 C T 1: 6,318,995 (GRCm39) Q788* probably null Het
Ror2 C T 13: 53,265,653 (GRCm39) G468R probably damaging Het
Slamf7 A G 1: 171,468,754 (GRCm39) I46T possibly damaging Het
Stab2 A G 10: 86,758,759 (GRCm39) S1060P probably damaging Het
Tgfbr3 G A 5: 107,266,317 (GRCm39) T801M probably damaging Het
Tmem132c T C 5: 127,436,616 (GRCm39) probably benign Het
Trav21-dv12 T C 14: 54,114,188 (GRCm39) Y103H probably damaging Het
Tut4 T C 4: 108,370,596 (GRCm39) S871P possibly damaging Het
Ubr3 T C 2: 69,768,522 (GRCm39) V443A probably damaging Het
Uhrf2 G T 19: 30,069,520 (GRCm39) C749F probably damaging Het
Ulk2 G T 11: 61,682,262 (GRCm39) S751* probably null Het
Wrn G A 8: 33,731,039 (GRCm39) P1098S possibly damaging Het
Xrcc5 T C 1: 72,385,508 (GRCm39) V533A possibly damaging Het
Zc3h13 T C 14: 75,547,163 (GRCm39) S223P probably damaging Het
Other mutations in Syndig1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01506:Syndig1 APN 2 149,741,677 (GRCm39) missense probably damaging 1.00
IGL01814:Syndig1 APN 2 149,741,690 (GRCm39) missense probably damaging 1.00
IGL01988:Syndig1 APN 2 149,845,090 (GRCm39) splice site probably benign
IGL02323:Syndig1 APN 2 149,741,707 (GRCm39) missense probably benign 0.00
R1445:Syndig1 UTSW 2 149,772,841 (GRCm39) missense probably damaging 1.00
R1523:Syndig1 UTSW 2 149,845,154 (GRCm39) missense probably damaging 1.00
R4825:Syndig1 UTSW 2 149,741,473 (GRCm39) missense probably damaging 0.99
R4892:Syndig1 UTSW 2 149,741,811 (GRCm39) missense probably damaging 1.00
R5643:Syndig1 UTSW 2 149,741,428 (GRCm39) missense possibly damaging 0.78
R5644:Syndig1 UTSW 2 149,741,428 (GRCm39) missense possibly damaging 0.78
R6386:Syndig1 UTSW 2 149,741,496 (GRCm39) missense probably damaging 1.00
R6603:Syndig1 UTSW 2 149,845,208 (GRCm39) missense probably damaging 1.00
R7941:Syndig1 UTSW 2 149,741,708 (GRCm39) missense probably benign 0.37
R8177:Syndig1 UTSW 2 149,741,788 (GRCm39) missense probably damaging 1.00
R9265:Syndig1 UTSW 2 149,845,160 (GRCm39) missense probably damaging 0.98
R9340:Syndig1 UTSW 2 149,845,175 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09