Incidental Mutation 'R2920:Sdf2'
ID 255486
Institutional Source Beutler Lab
Gene Symbol Sdf2
Ensembl Gene ENSMUSG00000002064
Gene Name stromal cell derived factor 2
Synonyms
MMRRC Submission 040505-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.217) question?
Stock # R2920 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 78136817-78146310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 78145680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 126 (V126L)
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: V126L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000002133
Gene: ENSMUSG00000002064
AA Change: V126L

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 0.6637 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 96% (48/50)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb A G 10: 10,265,987 (GRCm39) Y1025H probably damaging Het
Adgrv1 C T 13: 81,596,984 (GRCm39) A4122T probably benign Het
Aloxe3 C T 11: 69,033,749 (GRCm39) T621I probably damaging Het
Atp2b3 A C X: 72,577,526 (GRCm39) T318P probably benign Het
Atrx A T X: 104,874,474 (GRCm39) V1962D probably benign Het
Chl1 C A 6: 103,672,304 (GRCm39) T531K probably damaging Het
Clca3b T A 3: 144,543,614 (GRCm39) D405V probably benign Het
Clca3b C T 3: 144,552,692 (GRCm39) D115N probably benign Het
Comtd1 A G 14: 21,897,686 (GRCm39) L149P possibly damaging Het
Cops7a A G 6: 124,939,325 (GRCm39) V108A probably benign Het
Crebbp A G 16: 3,936,946 (GRCm39) V343A probably damaging Het
Edrf1 T A 7: 133,269,301 (GRCm39) D1109E probably benign Het
Elmo3 A G 8: 106,034,691 (GRCm39) E359G possibly damaging Het
Ep400 C A 5: 110,903,780 (GRCm39) G273V probably damaging Het
Fgfr3 A G 5: 33,891,284 (GRCm39) N516S probably damaging Het
Glb1l T A 1: 75,185,834 (GRCm39) E31D probably benign Het
Hdac1-ps A G 17: 78,800,275 (GRCm39) D422G probably damaging Het
Il12rb2 C T 6: 67,337,552 (GRCm39) V110I probably damaging Het
Ints3 T C 3: 90,300,469 (GRCm39) E884G probably benign Het
Lin7b A G 7: 45,017,821 (GRCm39) V170A possibly damaging Het
Lrch2 A T X: 146,256,026 (GRCm39) V750E probably damaging Het
Mepe C T 5: 104,486,113 (GRCm39) R418C probably damaging Het
Mettl25 A T 10: 105,601,038 (GRCm39) probably null Het
Mphosph9 G A 5: 124,399,069 (GRCm39) T982I probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myo10 G T 15: 25,801,226 (GRCm39) V1472L probably damaging Het
Myo9b A G 8: 71,778,501 (GRCm39) K445R probably damaging Het
Ntng2 T C 2: 29,094,223 (GRCm39) M383V probably benign Het
Or13n4 C T 7: 106,423,571 (GRCm39) R54Q probably benign Het
Or2z2 T C 11: 58,346,403 (GRCm39) Y124C probably damaging Het
Or7a37 A C 10: 78,805,846 (GRCm39) D121A probably damaging Het
Pak6 A T 2: 118,524,488 (GRCm39) probably benign Het
Pcdh8 G T 14: 80,006,154 (GRCm39) P803Q possibly damaging Het
Pfkfb3 C T 2: 11,489,138 (GRCm39) V286I probably benign Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rint1 A G 5: 24,010,400 (GRCm39) E203G probably benign Het
Slc13a5 T C 11: 72,138,617 (GRCm39) E442G possibly damaging Het
Slc14a2 G T 18: 78,201,512 (GRCm39) S669* probably null Het
Slc38a7 A G 8: 96,572,571 (GRCm39) I157T possibly damaging Het
Slc4a5 T C 6: 83,241,369 (GRCm39) L215P probably damaging Het
Tbc1d9 T C 8: 83,937,098 (GRCm39) V60A probably benign Het
Tcerg1l T C 7: 137,850,108 (GRCm39) R422G probably damaging Het
Tmem107 T C 11: 68,962,247 (GRCm39) L68P probably damaging Het
Ugt2b5 A G 5: 87,273,266 (GRCm39) F467L possibly damaging Het
Vmn1r19 A T 6: 57,381,909 (GRCm39) N154I probably benign Het
Vmn2r69 T A 7: 85,060,973 (GRCm39) I204L probably benign Het
Zbtb1 T A 12: 76,432,619 (GRCm39) S202T possibly damaging Het
Other mutations in Sdf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02423:Sdf2 APN 11 78,141,844 (GRCm39) missense probably damaging 1.00
R1591:Sdf2 UTSW 11 78,145,819 (GRCm39) missense probably damaging 0.96
R2919: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'- GACCTAACCACCACATGTTGTTG -3'
(R):5'- TGGCCTTCCAGTAGTTGTTC -3'

Sequencing Primer
(F):5'- TGTAGCTGACTTCAGATGCACCAG -3'
(R):5'- GCTGGGCCATACCATGTAC -3'
Posted On 2014-12-29