Incidental Mutation 'R1591:Sdf2'
ID 175514
Institutional Source Beutler Lab
Gene Symbol Sdf2
Ensembl Gene ENSMUSG00000002064
Gene Name stromal cell derived factor 2
Synonyms
MMRRC Submission 039628-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.251) question?
Stock # R1591 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 78136817-78146310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78145819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 172 (E172G)
Ref Sequence ENSEMBL: ENSMUSP00000002133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002133]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000002133
AA Change: E172G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000002133
Gene: ENSMUSG00000002064
AA Change: E172G

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
MIR 29 83 2.24e-11 SMART
MIR 91 146 5.47e-15 SMART
MIR 148 201 8.36e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133020
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154080
Meta Mutation Damage Score 0.2314 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.7%
Validation Efficiency 100% (80/80)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is believed to be a secretory protein. It has regions of similarity to hydrophilic segments of yeast mannosyltransferases. Its expression is ubiquitous and the gene appears to be relatively conserved among mammals. Alternate splicing results in both coding and non-coding variants. A pseudogene of this gene is located on chromosome 15. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas1 G T 5: 100,957,505 (GRCm39) Q201K probably benign Het
Acacb A T 5: 114,341,484 (GRCm39) I829F possibly damaging Het
Acvr1b G T 15: 101,091,905 (GRCm39) V62L probably benign Het
Adam6b A T 12: 113,453,452 (GRCm39) I90F probably benign Het
Adgrf1 T C 17: 43,621,872 (GRCm39) L703P probably damaging Het
Arf3 T C 15: 98,640,669 (GRCm39) probably benign Het
Asns T C 6: 7,678,007 (GRCm39) D357G probably damaging Het
Atr T C 9: 95,827,438 (GRCm39) M2461T probably damaging Het
B3galt4 G A 17: 34,169,813 (GRCm39) R142C probably damaging Het
Bod1l T C 5: 41,976,563 (GRCm39) I1584V probably benign Het
Bub3 T C 7: 131,163,337 (GRCm39) probably null Het
Camkk2 A G 5: 122,895,621 (GRCm39) probably null Het
Cand1 G T 10: 119,047,774 (GRCm39) T572K possibly damaging Het
Caprin2 A T 6: 148,774,606 (GRCm39) S235R possibly damaging Het
Cdh24 T C 14: 54,873,799 (GRCm39) T452A probably benign Het
Cdh4 T C 2: 179,528,657 (GRCm39) probably null Het
Cfap61 A G 2: 145,987,378 (GRCm39) R1060G probably benign Het
Chd9 A G 8: 91,710,166 (GRCm39) D314G probably damaging Het
Cplx3 C T 9: 57,523,085 (GRCm39) V125I probably benign Het
Csmd1 T A 8: 15,950,710 (GRCm39) I3500F probably damaging Het
Dnah1 G T 14: 30,994,289 (GRCm39) Q2858K probably benign Het
Dnah6 C T 6: 73,053,583 (GRCm39) E2884K probably benign Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
Exosc10 T A 4: 148,652,840 (GRCm39) I485N probably benign Het
Fap T C 2: 62,384,201 (GRCm39) K2E probably damaging Het
Fgfr1 G A 8: 26,062,736 (GRCm39) G671D probably damaging Het
Fzr1 C T 10: 81,206,201 (GRCm39) R162Q possibly damaging Het
Grap2 A T 15: 80,532,649 (GRCm39) Y272F probably damaging Het
Il11ra1 T A 4: 41,766,200 (GRCm39) W246R probably damaging Het
Kcna3 A T 3: 106,944,345 (GRCm39) I203F probably damaging Het
Kcng1 T C 2: 168,110,630 (GRCm39) E178G possibly damaging Het
Kif19a A C 11: 114,680,057 (GRCm39) H798P probably benign Het
Kif21b T C 1: 136,077,055 (GRCm39) L359P probably damaging Het
Krt6a A T 15: 101,600,792 (GRCm39) probably null Het
Lrp1 C T 10: 127,441,475 (GRCm39) S216N probably benign Het
Lrp3 A G 7: 34,901,790 (GRCm39) V676A probably benign Het
Lrrc63 T A 14: 75,363,332 (GRCm39) K266N possibly damaging Het
Mccc1 C T 3: 36,044,006 (GRCm39) V246M probably damaging Het
Mdn1 T C 4: 32,700,092 (GRCm39) V1395A possibly damaging Het
Mmrn1 A T 6: 60,921,755 (GRCm39) R71* probably null Het
Mrps2 C T 2: 28,359,500 (GRCm39) A119V probably benign Het
Ogdh T C 11: 6,299,384 (GRCm39) F750S probably damaging Het
Or1ak2 C A 2: 36,827,990 (GRCm39) N286K probably damaging Het
Or51aa2 T G 7: 103,188,274 (GRCm39) T56P probably benign Het
Or5p60 T A 7: 107,723,571 (GRCm39) I300F possibly damaging Het
Or8b3 A G 9: 38,314,232 (GRCm39) T18A probably damaging Het
Or8b42 A T 9: 38,341,707 (GRCm39) N43I probably damaging Het
Osbpl11 A C 16: 33,030,353 (GRCm39) I194L probably benign Het
Pacsin2 T C 15: 83,269,252 (GRCm39) E14G probably damaging Het
Pate7 T C 9: 35,687,952 (GRCm39) D96G probably damaging Het
Pcdh7 A G 5: 57,877,764 (GRCm39) T440A probably damaging Het
Pcdhb17 T C 18: 37,618,878 (GRCm39) S223P probably damaging Het
Pik3c2g G A 6: 139,693,904 (GRCm39) R109K probably benign Het
Ppp2ca T C 11: 51,989,916 (GRCm39) I14T possibly damaging Het
Rdh12 A T 12: 79,258,278 (GRCm39) T102S probably damaging Het
Rsf1 T A 7: 97,288,520 (GRCm39) C132* probably null Het
Rufy1 G A 11: 50,285,755 (GRCm39) L621F probably damaging Het
Ruvbl2 C T 7: 45,074,135 (GRCm39) R253H possibly damaging Het
Skint5 C T 4: 113,856,651 (GRCm39) probably null Het
Slc25a27 A G 17: 43,964,315 (GRCm39) I185T probably benign Het
Slc41a3 A C 6: 90,610,677 (GRCm39) K180Q probably benign Het
Slc7a14 A C 3: 31,291,598 (GRCm39) F227V probably damaging Het
Smg1 T C 7: 117,756,142 (GRCm39) probably benign Het
St6galnac1 A T 11: 116,656,689 (GRCm39) D483E probably damaging Het
Tes A G 6: 17,097,441 (GRCm39) K183R probably damaging Het
Tgfbr1 G T 4: 47,403,471 (GRCm39) D290Y probably damaging Het
Tifab T A 13: 56,324,164 (GRCm39) Y93F probably benign Het
Tmem131l A G 3: 83,848,196 (GRCm39) probably null Het
Tnfrsf21 T A 17: 43,396,265 (GRCm39) S516R probably benign Het
Ttn T C 2: 76,606,389 (GRCm39) Y18140C probably damaging Het
Unc13b T A 4: 43,244,747 (GRCm39) S3692T probably damaging Het
Vwa8 C T 14: 79,145,670 (GRCm39) R116C probably damaging Het
Zfp113 T C 5: 138,149,459 (GRCm39) probably benign Het
Zfp26 T C 9: 20,348,921 (GRCm39) T548A probably benign Het
Zfp870 C T 17: 33,102,990 (GRCm39) G114D probably damaging Het
Other mutations in Sdf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02423:Sdf2 APN 11 78,141,844 (GRCm39) missense probably damaging 1.00
R2919:Sdf2 UTSW 11 78,145,680 (GRCm39) missense probably damaging 0.97
R2920:Sdf2 UTSW 11 78,145,680 (GRCm39) missense probably damaging 0.97
R4367:Sdf2 UTSW 11 78,141,863 (GRCm39) missense probably damaging 1.00
R4371:Sdf2 UTSW 11 78,141,863 (GRCm39) missense probably damaging 1.00
R5970:Sdf2 UTSW 11 78,136,906 (GRCm39) missense probably benign
R7130:Sdf2 UTSW 11 78,136,823 (GRCm39) start codon destroyed probably null
R7619:Sdf2 UTSW 11 78,141,989 (GRCm39) missense probably damaging 0.99
R8868:Sdf2 UTSW 11 78,136,970 (GRCm39) missense probably damaging 1.00
R8955:Sdf2 UTSW 11 78,145,763 (GRCm39) missense probably benign 0.00
R9209:Sdf2 UTSW 11 78,136,858 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCAGACCTAACCACCACATGTTGTTG -3'
(R):5'- TCCCGAGAGAACTGACTAAGCCTG -3'

Sequencing Primer
(F):5'- agccatctccccagccc -3'
(R):5'- TCTACAAACACTGTGTGGCG -3'
Posted On 2014-04-24