Incidental Mutation 'R8802:Syvn1'
ID 671589
Institutional Source Beutler Lab
Gene Symbol Syvn1
Ensembl Gene ENSMUSG00000024807
Gene Name synovial apoptosis inhibitor 1, synoviolin
Synonyms Hrd1, 1200010C09Rik
MMRRC Submission 068639-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8802 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 6096606-6103742 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6097968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 2 (F2S)
Ref Sequence ENSEMBL: ENSMUSP00000114960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025723] [ENSMUST00000129081] [ENSMUST00000134667] [ENSMUST00000138532] [ENSMUST00000156550]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000025723
AA Change: F2S
SMART Domains Protein: ENSMUSP00000025723
Gene: ENSMUSG00000024807
AA Change: F2S

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
transmembrane domain 45 67 N/A INTRINSIC
transmembrane domain 103 120 N/A INTRINSIC
transmembrane domain 124 146 N/A INTRINSIC
transmembrane domain 159 181 N/A INTRINSIC
RING 240 278 4.7e-10 SMART
low complexity region 286 357 N/A INTRINSIC
low complexity region 365 426 N/A INTRINSIC
low complexity region 488 528 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129081
AA Change: F2S

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118698
Gene: ENSMUSG00000024807
AA Change: F2S

DomainStartEndE-ValueType
transmembrane domain 5 25 N/A INTRINSIC
transmembrane domain 45 67 N/A INTRINSIC
transmembrane domain 103 120 N/A INTRINSIC
transmembrane domain 135 157 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134667
AA Change: F2S

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114960
Gene: ENSMUSG00000024807
AA Change: F2S

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
transmembrane domain 45 67 N/A INTRINSIC
transmembrane domain 103 120 N/A INTRINSIC
transmembrane domain 133 155 N/A INTRINSIC
transmembrane domain 170 192 N/A INTRINSIC
transmembrane domain 213 235 N/A INTRINSIC
RING 291 329 9.74e-8 SMART
low complexity region 337 408 N/A INTRINSIC
low complexity region 416 477 N/A INTRINSIC
low complexity region 539 579 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138532
AA Change: F2S

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114843
Gene: ENSMUSG00000024807
AA Change: F2S

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
transmembrane domain 45 67 N/A INTRINSIC
transmembrane domain 103 120 N/A INTRINSIC
transmembrane domain 133 155 N/A INTRINSIC
transmembrane domain 170 192 N/A INTRINSIC
transmembrane domain 213 235 N/A INTRINSIC
RING 291 329 9.74e-8 SMART
low complexity region 337 408 N/A INTRINSIC
low complexity region 416 477 N/A INTRINSIC
low complexity region 539 579 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156550
AA Change: F2S

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000121885
Gene: ENSMUSG00000024807
AA Change: F2S

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
transmembrane domain 45 67 N/A INTRINSIC
transmembrane domain 103 120 N/A INTRINSIC
transmembrane domain 133 155 N/A INTRINSIC
transmembrane domain 170 192 N/A INTRINSIC
transmembrane domain 213 235 N/A INTRINSIC
RING 291 329 9.74e-8 SMART
low complexity region 337 408 N/A INTRINSIC
low complexity region 416 477 N/A INTRINSIC
low complexity region 539 573 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in endoplasmic reticulum (ER)-associated degradation. The encoded protein removes unfolded proteins, accumulated during ER stress, by retrograde transport to the cytosol from the ER. This protein also uses the ubiquitin-proteasome system for additional degradation of unfolded proteins. Sequence analysis identified two transcript variants that encode different isoforms. [provided by RefSeq, May 2011]
PHENOTYPE: Haploinsufficiency results in embryonic death due to systemic abnormal apoptosis. Mice are viable when only a single copy is inactivated and they exhibit a resistance to collagen-induced arthritis due to enhanced apoptosis of synovial cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik A G 7: 12,249,415 (GRCm39) T83A possibly damaging Het
Abcc6 A G 7: 45,658,283 (GRCm39) L451P probably damaging Het
Ak5 T C 3: 152,321,631 (GRCm39) E252G probably damaging Het
Atg4a-ps T A 3: 103,552,686 (GRCm39) K218N probably damaging Het
Bglap2 T A 3: 88,285,568 (GRCm39) M35L probably benign Het
Bicral A G 17: 47,135,626 (GRCm39) M528T probably benign Het
Cdh23 A G 10: 60,244,877 (GRCm39) V1008A probably benign Het
Chil6 A T 3: 106,312,208 (GRCm39) L31Q probably damaging Het
Ctnnd2 T C 15: 30,967,022 (GRCm39) V991A probably damaging Het
Dcc T C 18: 71,959,125 (GRCm39) N216D probably damaging Het
Dcdc2c T A 12: 28,576,720 (GRCm39) D106V probably benign Het
Dchs2 T C 3: 83,253,544 (GRCm39) I2318T probably benign Het
Fat2 A G 11: 55,173,750 (GRCm39) F2321S possibly damaging Het
Fbxw7 T C 3: 84,859,693 (GRCm39) V5A unknown Het
Fn3krp T C 11: 121,315,813 (GRCm39) V68A probably damaging Het
Gcn1 T C 5: 115,747,942 (GRCm39) L1783P probably damaging Het
Gdf6 C T 4: 9,844,769 (GRCm39) H98Y probably damaging Het
Gm13271 C A 4: 88,673,247 (GRCm39) P48Q probably damaging Het
Gm4871 A T 5: 144,966,876 (GRCm39) N202K probably benign Het
Gucy1a2 G A 9: 3,635,050 (GRCm39) V365I probably benign Het
Hadhb C T 5: 30,378,831 (GRCm39) Q157* probably null Het
Hivep2 C T 10: 14,015,166 (GRCm39) R1778C probably damaging Het
Hmcn2 T A 2: 31,301,288 (GRCm39) V2845E probably damaging Het
Hps3 T A 3: 20,074,070 (GRCm39) I431L probably damaging Het
Idh1 CA CAA 1: 65,204,347 (GRCm39) probably null Het
Igkv12-38 A T 6: 69,920,390 (GRCm39) C43S probably damaging Het
Jph2 T A 2: 163,239,184 (GRCm39) H88L probably damaging Het
Kmt2b G A 7: 30,283,496 (GRCm39) R955W probably damaging Het
Lrrc4c A G 2: 97,460,603 (GRCm39) T410A possibly damaging Het
Ltf C T 9: 110,850,018 (GRCm39) P14S probably benign Het
Mapk8ip3 G A 17: 25,124,206 (GRCm39) R521C probably damaging Het
Nampt C A 12: 32,900,435 (GRCm39) T460K probably benign Het
Nek9 T C 12: 85,374,192 (GRCm39) I282V probably benign Het
Ninl A T 2: 150,777,172 (GRCm39) V1394E probably damaging Het
Obox6 G A 7: 15,567,772 (GRCm39) S225L probably damaging Het
Or6k4 A G 1: 173,964,616 (GRCm39) Y102C probably damaging Het
Pcdha4 A G 18: 37,087,211 (GRCm39) K465E possibly damaging Het
Pex11g T C 8: 3,507,308 (GRCm39) K151R unknown Het
Pld2 T C 11: 70,446,824 (GRCm39) L811P probably damaging Het
Pum2 C T 12: 8,778,726 (GRCm39) R459* probably null Het
Ralgapa1 T C 12: 55,785,101 (GRCm39) S720G probably damaging Het
Rbbp6 T A 7: 122,587,680 (GRCm39) probably benign Het
Rbl1 A G 2: 157,038,073 (GRCm39) probably null Het
Reln G T 5: 22,130,257 (GRCm39) R2685S probably damaging Het
Rnf213 T C 11: 119,352,928 (GRCm39) F3942L Het
Rpusd2 T C 2: 118,865,378 (GRCm39) V25A probably benign Het
Rusc1 T A 3: 88,999,540 (GRCm39) I81L probably benign Het
Serpinb9b A G 13: 33,213,587 (GRCm39) E48G probably benign Het
Skil C T 3: 31,167,592 (GRCm39) P408L probably damaging Het
Slc17a4 A G 13: 24,089,274 (GRCm39) W186R probably damaging Het
Tmc6 T C 11: 117,665,901 (GRCm39) M338V possibly damaging Het
Tnfrsf17 A T 16: 11,137,819 (GRCm39) R185S possibly damaging Het
Utp20 T C 10: 88,583,157 (GRCm39) K2732R probably damaging Het
Vmn1r58 A T 7: 5,414,080 (GRCm39) V50E probably damaging Het
Vmn2r114 T A 17: 23,528,836 (GRCm39) D422V possibly damaging Het
Vmn2r83 A T 10: 79,314,261 (GRCm39) I170F probably benign Het
Xdh C T 17: 74,225,405 (GRCm39) V466I probably benign Het
Xndc1 A G 7: 101,720,539 (GRCm39) I6V possibly damaging Het
Zbtb38 T C 9: 96,567,623 (GRCm39) T1154A probably benign Het
Zfp160 T A 17: 21,246,867 (GRCm39) H472Q probably damaging Het
Zfp438 T A 18: 5,213,417 (GRCm39) T514S possibly damaging Het
Other mutations in Syvn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01988:Syvn1 APN 19 6,102,437 (GRCm39) missense probably benign 0.00
IGL02004:Syvn1 APN 19 6,102,437 (GRCm39) missense probably benign 0.00
IGL02218:Syvn1 APN 19 6,100,229 (GRCm39) missense probably damaging 1.00
IGL02335:Syvn1 APN 19 6,100,123 (GRCm39) critical splice donor site probably null
IGL02385:Syvn1 APN 19 6,098,570 (GRCm39) missense probably damaging 1.00
IGL02700:Syvn1 APN 19 6,097,973 (GRCm39) missense probably benign 0.03
IGL02904:Syvn1 APN 19 6,099,845 (GRCm39) nonsense probably null
R0833:Syvn1 UTSW 19 6,102,483 (GRCm39) missense probably benign 0.04
R1886:Syvn1 UTSW 19 6,099,257 (GRCm39) missense possibly damaging 0.84
R2031:Syvn1 UTSW 19 6,100,560 (GRCm39) missense probably damaging 1.00
R4299:Syvn1 UTSW 19 6,099,951 (GRCm39) intron probably benign
R4347:Syvn1 UTSW 19 6,099,951 (GRCm39) intron probably benign
R4422:Syvn1 UTSW 19 6,099,951 (GRCm39) intron probably benign
R4423:Syvn1 UTSW 19 6,099,951 (GRCm39) intron probably benign
R4424:Syvn1 UTSW 19 6,099,951 (GRCm39) intron probably benign
R4425:Syvn1 UTSW 19 6,099,951 (GRCm39) intron probably benign
R4647:Syvn1 UTSW 19 6,101,504 (GRCm39) missense probably benign 0.13
R5960:Syvn1 UTSW 19 6,100,598 (GRCm39) missense probably damaging 1.00
R6388:Syvn1 UTSW 19 6,102,381 (GRCm39) missense probably damaging 0.97
R6940:Syvn1 UTSW 19 6,101,214 (GRCm39) unclassified probably benign
R7728:Syvn1 UTSW 19 6,101,235 (GRCm39) missense unknown
R8079:Syvn1 UTSW 19 6,098,396 (GRCm39) missense probably null 1.00
R8272:Syvn1 UTSW 19 6,097,971 (GRCm39) missense probably damaging 1.00
R8744:Syvn1 UTSW 19 6,099,198 (GRCm39) missense probably damaging 0.99
R8780:Syvn1 UTSW 19 6,100,393 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGCCTCAGTGACTCCCTAGAG -3'
(R):5'- GACATGTAGCCCCACTTCTG -3'

Sequencing Primer
(F):5'- CGAGATTGATCCAAGTTCTAGGCC -3'
(R):5'- GCCCCACTTCTGCCCCTC -3'
Posted On 2021-04-30