Incidental Mutation 'R9265:Syndig1'
ID 702470
Institutional Source Beutler Lab
Gene Symbol Syndig1
Ensembl Gene ENSMUSG00000074736
Gene Name synapse differentiation inducing 1
Synonyms Tmem90b, SynDIG1
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R9265 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 149672703-149846312 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 149845160 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 228 (F228L)
Ref Sequence ENSEMBL: ENSMUSP00000105560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109934] [ENSMUST00000109935]
AlphaFold A2ANU3
Predicted Effect probably damaging
Transcript: ENSMUST00000109934
AA Change: F228L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105560
Gene: ENSMUSG00000074736
AA Change: F228L

DomainStartEndE-ValueType
Pfam:Dispanin 164 246 5.8e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109935
AA Change: F228L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105561
Gene: ENSMUSG00000074736
AA Change: F228L

DomainStartEndE-ValueType
low complexity region 151 171 N/A INTRINSIC
Pfam:CD225 172 244 7.9e-22 PFAM
Meta Mutation Damage Score 0.1313 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (46/47)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3a2 T C 11: 61,153,094 (GRCm39) K211E probably damaging Het
Apba2 G T 7: 64,393,020 (GRCm39) A514S probably damaging Het
Aspm C T 1: 139,389,182 (GRCm39) T615I probably benign Het
Atrnl1 T A 19: 57,766,359 (GRCm39) F1232Y probably benign Het
B4galt3 A G 1: 171,101,617 (GRCm39) D197G probably damaging Het
Calcrl T G 2: 84,200,400 (GRCm39) N127H possibly damaging Het
Camkv T G 9: 107,825,262 (GRCm39) I421S possibly damaging Het
Cdc123 T C 2: 5,808,765 (GRCm39) D237G possibly damaging Het
Cilp A G 9: 65,187,333 (GRCm39) T1143A probably benign Het
Col5a1 G A 2: 27,854,123 (GRCm39) R569K unknown Het
Cpn1 T C 19: 43,958,599 (GRCm39) I201V probably damaging Het
Cr1l T C 1: 194,806,027 (GRCm39) D152G probably benign Het
Csf2rb A T 15: 78,232,746 (GRCm39) E684D probably benign Het
Csmd2 A T 4: 128,294,163 (GRCm39) N1164I Het
Ddx42 A G 11: 106,132,435 (GRCm39) N486S probably benign Het
Dnah6 A G 6: 73,060,040 (GRCm39) I2848T probably benign Het
Dnah7a T C 1: 53,674,505 (GRCm39) D424G probably benign Het
Dnah9 T C 11: 65,732,081 (GRCm39) H4275R probably benign Het
Epha6 G A 16: 59,476,117 (GRCm39) T1083M probably damaging Het
Fzd1 A G 5: 4,807,216 (GRCm39) I122T probably damaging Het
Gm28042 T C 2: 119,871,705 (GRCm39) F914S probably damaging Het
Gpatch11 A G 17: 79,146,547 (GRCm39) D64G probably benign Het
Hinfp A G 9: 44,209,083 (GRCm39) V345A possibly damaging Het
Hoxd8 C T 2: 74,536,115 (GRCm39) S75L probably benign Het
Igsf1 A G X: 48,884,191 (GRCm39) M2T possibly damaging Het
Krt42 C T 11: 100,157,808 (GRCm39) E219K probably damaging Het
Mcm3 C A 1: 20,879,905 (GRCm39) D531Y probably damaging Het
Msantd1 C T 5: 35,080,861 (GRCm39) R264* probably null Het
Nadk2 A G 15: 9,071,774 (GRCm39) T65A probably damaging Het
Nbea AC A 3: 55,998,393 (GRCm39) probably null Het
Neb T C 2: 52,089,456 (GRCm39) D5172G probably null Het
Nlrp9a G T 7: 26,258,038 (GRCm39) R552I possibly damaging Het
Nr3c2 A G 8: 77,636,236 (GRCm39) T446A probably benign Het
Or4x11 T C 2: 89,867,842 (GRCm39) I193T probably benign Het
Or51g2 C T 7: 102,623,112 (GRCm39) W29* probably null Het
Or52s6 C A 7: 103,092,165 (GRCm39) R55L possibly damaging Het
Or7g21 T A 9: 19,032,984 (GRCm39) C241* probably null Het
Pcdhb10 A G 18: 37,546,553 (GRCm39) Q543R possibly damaging Het
Pcdhga6 A G 18: 37,841,102 (GRCm39) H274R possibly damaging Het
Pknox1 A G 17: 31,809,672 (GRCm39) D92G probably damaging Het
Pnpla6 C T 8: 3,573,294 (GRCm39) P386L probably benign Het
Rlf G C 4: 121,007,487 (GRCm39) P608A possibly damaging Het
Sardh A T 2: 27,105,065 (GRCm39) I686N probably damaging Het
Sstr3 G T 15: 78,423,792 (GRCm39) N318K probably damaging Het
St6gal1 A G 16: 23,140,168 (GRCm39) Y113C probably damaging Het
Ttll5 T A 12: 85,937,795 (GRCm39) C375* probably null Het
Zscan4c T A 7: 10,740,824 (GRCm39) S114R probably benign Het
Other mutations in Syndig1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01506:Syndig1 APN 2 149,741,677 (GRCm39) missense probably damaging 1.00
IGL01599:Syndig1 APN 2 149,845,203 (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
R9340:Syndig1 UTSW 2 149,845,175 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGCCTGTATTTGTGGAACC -3'
(R):5'- TCATGGAGTTGTTTGGCAATCAC -3'

Sequencing Primer
(F):5'- TGGAACCTGTCTGTAATCCAG -3'
(R):5'- GGCAATCACTTGTACTGTACAG -3'
Posted On 2022-03-25