Incidental Mutation 'R9162:Syndig1l'
ID 695798
Institutional Source Beutler Lab
Gene Symbol Syndig1l
Ensembl Gene ENSMUSG00000071234
Gene Name synapse differentiation inducing 1 like
Synonyms Tmem90a, capucin, LOC238321, SynDIG2
MMRRC Submission 068943-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9162 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 84724051-84745605 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84727291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 91 (F91S)
Ref Sequence ENSEMBL: ENSMUSP00000093206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095550] [ENSMUST00000221905] [ENSMUST00000222422]
AlphaFold Q3USQ7
Predicted Effect probably damaging
Transcript: ENSMUST00000095550
AA Change: F91S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093206
Gene: ENSMUSG00000071234
AA Change: F91S

DomainStartEndE-ValueType
low complexity region 125 150 N/A INTRINSIC
Pfam:CD225 152 223 2.7e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000221905
Predicted Effect probably damaging
Transcript: ENSMUST00000222422
AA Change: F91S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (48/49)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile, exhibit normal brain anatomy, and show no alterations in striatal vulnerability to a mutant huntingtin fragment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 A G 5: 24,611,732 (GRCm39) D516G probably damaging Het
Abcd2 A G 15: 91,058,926 (GRCm39) M506T probably benign Het
Abhd17a T C 10: 80,422,577 (GRCm39) Y35C probably damaging Het
Adamts12 A G 15: 11,311,721 (GRCm39) N1326S probably benign Het
Arhgef18 T C 8: 3,414,645 (GRCm39) Y8H probably benign Het
Arsi T C 18: 61,050,569 (GRCm39) V484A probably damaging Het
Bsn T C 9: 107,987,883 (GRCm39) D2623G unknown Het
Cul9 A C 17: 46,837,529 (GRCm39) D1005E probably benign Het
Dchs1 A C 7: 105,414,732 (GRCm39) V770G probably damaging Het
Dcst2 C A 3: 89,274,088 (GRCm39) S213* probably null Het
Dnah11 C T 12: 117,991,251 (GRCm39) E2372K probably damaging Het
Dysf C T 6: 84,089,215 (GRCm39) T926I probably damaging Het
Ext1 G A 15: 53,208,504 (GRCm39) R86* probably null Het
Fat1 T C 8: 45,404,352 (GRCm39) F368L probably damaging Het
Flnc T C 6: 29,455,860 (GRCm39) C2097R probably damaging Het
Git1 T A 11: 77,396,331 (GRCm39) I565N probably benign Het
Gpr22 A G 12: 31,758,724 (GRCm39) V466A probably benign Het
Hacd4 T A 4: 88,338,017 (GRCm39) T194S probably benign Het
Hectd4 A G 5: 121,445,042 (GRCm39) K93R possibly damaging Het
Kcnv1 T C 15: 44,972,450 (GRCm39) S478G possibly damaging Het
Kmt2a T C 9: 44,759,363 (GRCm39) S829G probably benign Het
Lnp1 A T 16: 56,737,844 (GRCm39) H81Q possibly damaging Het
Lrp1 C T 10: 127,441,368 (GRCm39) A252T probably benign Het
Msl2 T C 9: 100,978,928 (GRCm39) V434A probably benign Het
Myo1g T A 11: 6,460,897 (GRCm39) I716F probably damaging Het
Or52e19 A T 7: 102,958,927 (GRCm39) probably benign Het
Or56a42-ps1 A T 7: 104,777,454 (GRCm39) Y53* probably null Het
Or5b12 A T 19: 12,897,024 (GRCm39) Y216* probably null Het
Or7e175 A G 9: 20,040,457 (GRCm39) I6V probably benign Het
Pappa T A 4: 65,123,040 (GRCm39) S792T probably damaging Het
Pcdhb17 T C 18: 37,620,168 (GRCm39) S653P probably damaging Het
Plcd4 A G 1: 74,601,362 (GRCm39) K574R probably benign Het
Scyl3 C A 1: 163,773,891 (GRCm39) Q372K probably benign Het
Sgsm1 A T 5: 113,430,577 (GRCm39) D269E probably damaging Het
Siah2 C A 3: 58,599,104 (GRCm39) G45C unknown Het
Slc4a11 T A 2: 130,534,214 (GRCm39) D28V possibly damaging Het
Slco1a8 T A 6: 141,939,453 (GRCm39) E200V probably damaging Het
Socs4 T A 14: 47,528,301 (GRCm39) M412K probably damaging Het
Spata31e1 T G 13: 49,939,310 (GRCm39) Q800P possibly damaging Het
Spef2 T G 15: 9,602,017 (GRCm39) N1415T unknown Het
Stat6 A G 10: 127,487,089 (GRCm39) K199E probably damaging Het
Tank C A 2: 61,480,432 (GRCm39) Q324K possibly damaging Het
Tars3 G A 7: 65,332,518 (GRCm39) E540K probably benign Het
Tial1 A G 7: 128,050,415 (GRCm39) V70A possibly damaging Het
Tmem87b C T 2: 128,681,150 (GRCm39) T358I probably benign Het
Ttyh3 G A 5: 140,621,820 (GRCm39) A42V possibly damaging Het
Xrn1 T C 9: 95,915,660 (GRCm39) I1261T probably benign Het
Zfp229 T C 17: 21,964,495 (GRCm39) S242P probably damaging Het
Zmym2 T A 14: 57,163,361 (GRCm39) C638S probably benign Het
Other mutations in Syndig1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1172:Syndig1l UTSW 12 84,725,942 (GRCm39) critical splice acceptor site probably null
R1463:Syndig1l UTSW 12 84,727,137 (GRCm39) splice site probably benign
Predicted Primers PCR Primer
(F):5'- AGAATCGACGTTTTAAAACCGC -3'
(R):5'- AACCCACTGCTGCCTAGAAG -3'

Sequencing Primer
(F):5'- CGACGTTTTAAAACCGCTACTTAC -3'
(R):5'- TGCTGCCTAGAAGCCCCAC -3'
Posted On 2022-02-07