Incidental Mutation 'R6709:Syngr4'
ID 529058
Institutional Source Beutler Lab
Gene Symbol Syngr4
Ensembl Gene ENSMUSG00000040231
Gene Name synaptogyrin 4
Synonyms 1700016O14Rik
MMRRC Submission 044827-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R6709 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 45535502-45546152 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45538122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 82 (V82A)
Ref Sequence ENSEMBL: ENSMUSP00000113955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002855] [ENSMUST00000039049] [ENSMUST00000120299] [ENSMUST00000211716]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000002855
SMART Domains Protein: ENSMUSP00000002855
Gene: ENSMUSG00000002778

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
Pfam:ER_lumen_recept 28 169 7.5e-58 PFAM
transmembrane domain 178 200 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000039049
AA Change: V82A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000047035
Gene: ENSMUSG00000040231
AA Change: V82A

DomainStartEndE-ValueType
Pfam:MARVEL 18 163 2e-27 PFAM
low complexity region 184 201 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120299
AA Change: V82A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000113955
Gene: ENSMUSG00000040231
AA Change: V82A

DomainStartEndE-ValueType
Pfam:MARVEL 18 110 2.3e-12 PFAM
low complexity region 113 129 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211254
Predicted Effect probably benign
Transcript: ENSMUST00000211716
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 98% (58/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein. The gene belongs to the synaptogyrin gene family. Like other members of the family the protein contains four transmembrane regions. The exact function of this protein is unclear. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A G 5: 137,552,779 (GRCm39) D36G possibly damaging Het
Actn1 T A 12: 80,240,418 (GRCm39) D223V probably damaging Het
Adgre1 A T 17: 57,713,917 (GRCm39) N201Y probably benign Het
Agbl4 T A 4: 111,423,979 (GRCm39) probably benign Het
Atg4d T C 9: 21,179,944 (GRCm39) Y272H probably damaging Het
Ccdc39 T C 3: 33,884,242 (GRCm39) T367A possibly damaging Het
Ceacam2 T C 7: 25,229,262 (GRCm39) T293A possibly damaging Het
Col19a1 C T 1: 24,321,577 (GRCm39) G977E probably damaging Het
Csnka2ip A T 16: 64,298,932 (GRCm39) H33Q possibly damaging Het
Cyp3a44 A T 5: 145,714,902 (GRCm39) probably null Het
Dcpp3 AGGCCATGCTGGCC AGGCC 17: 24,136,572 (GRCm39) probably benign Het
Dnah12 A G 14: 26,594,706 (GRCm39) D3492G probably damaging Het
Eepd1 A T 9: 25,394,164 (GRCm39) T143S probably benign Het
Eml2 A G 7: 18,940,136 (GRCm39) *650W probably null Het
Etv1 C T 12: 38,833,796 (GRCm39) T19I possibly damaging Het
Fam133b T C 5: 3,619,059 (GRCm39) probably benign Het
Fgd4 T C 16: 16,302,345 (GRCm39) H70R probably benign Het
Galnt11 C T 5: 25,453,851 (GRCm39) R26C probably damaging Het
Gm136 T A 4: 34,755,884 (GRCm39) Y43F probably damaging Het
Gm17409 A T 2: 58,361,088 (GRCm39) probably null Het
Gm5591 A G 7: 38,221,499 (GRCm39) I190T probably benign Het
H1f9 T A 11: 94,858,772 (GRCm39) S22R possibly damaging Het
Htra1 C T 7: 130,537,948 (GRCm39) probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ints8 A T 4: 11,221,117 (GRCm39) Y753N possibly damaging Het
Itprid2 A G 2: 79,475,276 (GRCm39) T412A probably benign Het
L3mbtl3 G A 10: 26,158,695 (GRCm39) T651I unknown Het
Ltb4r2 A C 14: 55,999,990 (GRCm39) T204P possibly damaging Het
Ltbp3 G A 19: 5,797,885 (GRCm39) probably null Het
Mlxip A T 5: 123,585,339 (GRCm39) I616F possibly damaging Het
Mpz A T 1: 170,978,301 (GRCm39) probably benign Het
Myh11 A G 16: 14,041,358 (GRCm39) probably null Het
Myo7a A G 7: 97,703,906 (GRCm39) L1949P probably damaging Het
Olfm2 A G 9: 20,584,009 (GRCm39) Y116H probably damaging Het
Or2t47 T C 11: 58,442,862 (GRCm39) M68V probably benign Het
Or6s1 A T 14: 51,308,286 (GRCm39) L188H probably damaging Het
Pde4d T G 13: 110,084,813 (GRCm39) L470R probably damaging Het
Plxna2 T A 1: 194,472,074 (GRCm39) N1013K probably benign Het
Ptpn13 A C 5: 103,734,622 (GRCm39) Q2118P probably benign Het
Pwwp2a C G 11: 43,595,554 (GRCm39) L240V probably damaging Het
Reep2 T C 18: 34,979,263 (GRCm39) L196P probably benign Het
Shank1 A T 7: 44,003,600 (GRCm39) N1765I probably benign Het
Slc25a13 A G 6: 6,073,440 (GRCm39) S473P possibly damaging Het
Slc33a1 C A 3: 63,852,122 (GRCm39) M450I possibly damaging Het
Slc45a2 A G 15: 11,001,216 (GRCm39) Y105C possibly damaging Het
Slc4a11 A T 2: 130,526,616 (GRCm39) L812Q probably damaging Het
Sox6 T C 7: 115,301,024 (GRCm39) probably null Het
Sv2b A T 7: 74,773,887 (GRCm39) M528K probably benign Het
Tmem185b G A 1: 119,454,604 (GRCm39) V122I probably benign Het
Trdn A G 10: 33,340,587 (GRCm39) D607G probably benign Het
Trim10 T A 17: 37,183,262 (GRCm39) I186N probably damaging Het
Trp53i11 A T 2: 93,030,163 (GRCm39) M157L probably benign Het
Ubr3 C A 2: 69,843,436 (GRCm39) H1559N probably damaging Het
Usp25 A C 16: 76,880,820 (GRCm39) E727A probably benign Het
Vmn2r42 T A 7: 8,195,618 (GRCm39) R509S probably benign Het
Vmn2r69 T C 7: 85,061,069 (GRCm39) N172D probably benign Het
Zfp14 T C 7: 29,737,557 (GRCm39) Y476C probably damaging Het
Other mutations in Syngr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01597:Syngr4 APN 7 45,536,390 (GRCm39) missense probably benign
R1739:Syngr4 UTSW 7 45,538,146 (GRCm39) missense possibly damaging 0.95
R2143:Syngr4 UTSW 7 45,536,464 (GRCm39) missense probably benign 0.01
R2144:Syngr4 UTSW 7 45,536,464 (GRCm39) missense probably benign 0.01
R2145:Syngr4 UTSW 7 45,536,464 (GRCm39) missense probably benign 0.01
R3740:Syngr4 UTSW 7 45,545,194 (GRCm39) missense possibly damaging 0.94
R3741:Syngr4 UTSW 7 45,545,194 (GRCm39) missense possibly damaging 0.94
R3742:Syngr4 UTSW 7 45,545,194 (GRCm39) missense possibly damaging 0.94
R4627:Syngr4 UTSW 7 45,536,452 (GRCm39) missense probably damaging 1.00
R6767:Syngr4 UTSW 7 45,536,915 (GRCm39) missense possibly damaging 0.58
R7207:Syngr4 UTSW 7 45,538,101 (GRCm39) missense possibly damaging 0.56
Predicted Primers PCR Primer
(F):5'- GACAAGGACCAGAAGATGCTTC -3'
(R):5'- CCTTTCCATTGTGGTTCACAGG -3'

Sequencing Primer
(F):5'- ATGCTTCCAGGAGGAGTCATC -3'
(R):5'- ATTGTGGTTCACAGGTCTTTTCC -3'
Posted On 2018-07-24