Incidental Mutation 'R5708:Sil1'
ID 452109
Institutional Source Beutler Lab
Gene Symbol Sil1
Ensembl Gene ENSMUSG00000024357
Gene Name SIL1 nucleotide exchange factor
Synonyms 1810057E01Rik
MMRRC Submission 043333-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.486) question?
Stock # R5708 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 35399449-35632443 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35474170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 149 (E149G)
Ref Sequence ENSEMBL: ENSMUSP00000025215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025215]
AlphaFold Q9EPK6
Predicted Effect probably benign
Transcript: ENSMUST00000025215
AA Change: E149G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000025215
Gene: ENSMUSG00000024357
AA Change: E149G

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
low complexity region 50 68 N/A INTRINSIC
Pfam:Fes1 128 226 2.8e-8 PFAM
Meta Mutation Damage Score 0.0614 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 98% (65/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele or spontaneous mutation exhibit ataxia and Purkinje cell degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067K01Rik A G 8: 84,729,627 (GRCm39) K101R probably benign Het
4933430I17Rik T C 4: 62,444,106 (GRCm39) S18P probably benign Het
Adgb C T 10: 10,267,501 (GRCm39) V940I probably damaging Het
Aox4 G T 1: 58,285,032 (GRCm39) A595S possibly damaging Het
Asxl2 T A 12: 3,550,603 (GRCm39) S782T possibly damaging Het
C1s2 A T 6: 124,602,702 (GRCm39) L503* probably null Het
C7 A G 15: 5,044,883 (GRCm39) V385A possibly damaging Het
Cdh20 T C 1: 104,912,635 (GRCm39) F630L probably damaging Het
Cdk14 A C 5: 5,316,036 (GRCm39) probably benign Het
Cdkl4 T C 17: 80,846,951 (GRCm39) I239M possibly damaging Het
Cfap299 A T 5: 98,885,566 (GRCm39) M158L probably benign Het
Col11a1 A G 3: 113,890,743 (GRCm39) N360S unknown Het
D630003M21Rik A G 2: 158,062,312 (GRCm39) probably null Het
Dchs1 G A 7: 105,422,016 (GRCm39) P135S probably damaging Het
Dpysl2 A G 14: 67,050,595 (GRCm39) S421P probably benign Het
Edn1 A T 13: 42,457,143 (GRCm39) M59L probably benign Het
EU599041 A G 7: 42,875,311 (GRCm39) noncoding transcript Het
Furin A G 7: 80,047,603 (GRCm39) probably benign Het
Gkn2 T C 6: 87,354,418 (GRCm39) L94P probably damaging Het
Gmeb2 A T 2: 180,906,782 (GRCm39) C117S probably damaging Het
Greb1 T A 12: 16,723,843 (GRCm39) I1869F probably benign Het
Heg1 A G 16: 33,562,774 (GRCm39) E1119G probably damaging Het
Hmgcs2 T A 3: 98,198,478 (GRCm39) L127Q probably damaging Het
Insyn2a C A 7: 134,520,525 (GRCm39) V2F probably damaging Het
Kcnh6 A G 11: 105,911,082 (GRCm39) R493G probably benign Het
Kcnj11 C T 7: 45,749,242 (GRCm39) R27H probably benign Het
Klra14-ps A G 6: 130,134,751 (GRCm39) noncoding transcript Het
Lgmn A T 12: 102,370,587 (GRCm39) N114K possibly damaging Het
Lipg C T 18: 75,088,505 (GRCm39) M148I possibly damaging Het
Megf8 G T 7: 25,034,022 (GRCm39) R607L probably benign Het
Mks1 A G 11: 87,747,665 (GRCm39) T183A probably benign Het
Mllt11 A G 3: 95,127,515 (GRCm39) V85A probably benign Het
Mpo A T 11: 87,692,581 (GRCm39) probably null Het
Muc4 A T 16: 32,575,515 (GRCm39) probably benign Het
Myoz3 T C 18: 60,712,104 (GRCm39) Y158C probably damaging Het
Or11g25 A T 14: 50,723,452 (GRCm39) D179V probably damaging Het
Or4k41 A G 2: 111,280,354 (GRCm39) R290G probably damaging Het
Or5ae1 A G 7: 84,565,391 (GRCm39) I135V possibly damaging Het
Polq T A 16: 36,881,380 (GRCm39) S902R probably damaging Het
Rarb T C 14: 16,548,545 (GRCm38) T93A probably damaging Het
Rgs12 A G 5: 35,123,696 (GRCm39) D493G probably benign Het
Sec31b T A 19: 44,511,583 (GRCm39) D606V probably damaging Het
Setd2 T C 9: 110,377,891 (GRCm39) F569L possibly damaging Het
Spata13 T G 14: 60,929,452 (GRCm39) S337A probably damaging Het
Srfbp1 T A 18: 52,622,018 (GRCm39) L360M probably damaging Het
Tecta A T 9: 42,250,222 (GRCm39) C1852S probably damaging Het
Tgfbr3l A G 8: 4,300,360 (GRCm39) T208A probably damaging Het
Tmem38b G C 4: 53,849,051 (GRCm39) probably null Het
Tnfrsf11a T A 1: 105,741,545 (GRCm39) probably null Het
Tnik T A 3: 28,666,120 (GRCm39) probably null Het
Tsc1 A T 2: 28,555,197 (GRCm39) probably benign Het
Zfp930 T C 8: 69,679,113 (GRCm39) V41A probably benign Het
Zscan18 A T 7: 12,508,383 (GRCm39) D372E probably benign Het
Other mutations in Sil1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02554:Sil1 APN 18 35,481,786 (GRCm39) missense probably damaging 1.00
IGL03066:Sil1 APN 18 35,402,259 (GRCm39) splice site probably benign
R0658:Sil1 UTSW 18 35,399,910 (GRCm39) missense possibly damaging 0.92
R1611:Sil1 UTSW 18 35,402,141 (GRCm39) missense possibly damaging 0.77
R1759:Sil1 UTSW 18 35,551,151 (GRCm39) missense possibly damaging 0.85
R3442:Sil1 UTSW 18 35,458,449 (GRCm39) missense probably damaging 0.98
R4502:Sil1 UTSW 18 35,450,928 (GRCm39) missense probably benign 0.04
R4701:Sil1 UTSW 18 35,399,949 (GRCm39) missense probably benign 0.00
R4809:Sil1 UTSW 18 35,458,428 (GRCm39) missense probably damaging 1.00
R5056:Sil1 UTSW 18 35,402,755 (GRCm39) missense probably benign 0.07
R7382:Sil1 UTSW 18 35,458,466 (GRCm39) missense probably benign
R7962:Sil1 UTSW 18 35,481,719 (GRCm39) missense probably benign 0.06
R9165:Sil1 UTSW 18 35,450,899 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- GGGCTCTGGCAATAATCTCC -3'
(R):5'- AGAGTTAGAACTGGCCTGGC -3'

Sequencing Primer
(F):5'- GGCAATAATCTCCCCCATTCTAC -3'
(R):5'- GCCTGGCCAAGCTTCCTC -3'
Posted On 2017-01-03