Incidental Mutation 'R4367:Sdf2'
ID 325822
Institutional Source Beutler Lab
Gene Symbol Sdf2
Ensembl Gene ENSMUSG00000002064
Gene Name stromal cell derived factor 2
Synonyms
MMRRC Submission 041673-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.251) question?
Stock # R4367 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 78136817-78146310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 78141863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 66 (T66I)
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: T66I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002133
Gene: ENSMUSG00000002064
AA Change: T66I

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 0.9713 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 98% (54/55)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb2 T C 18: 62,312,127 (GRCm39) I233V probably damaging Het
Alox5 T A 6: 116,437,924 (GRCm39) Y21F possibly damaging Het
Ank2 T C 3: 126,739,798 (GRCm39) T1942A probably benign Het
Aoc1l1 T C 6: 48,953,064 (GRCm39) S330P probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bckdk C T 7: 127,505,591 (GRCm39) A238V probably benign Het
Casp1 A G 9: 5,299,333 (GRCm39) T21A probably benign Het
Ccdc39 T C 3: 33,880,671 (GRCm39) H432R probably benign Het
Cttnbp2 A C 6: 18,405,248 (GRCm39) C574G probably damaging Het
Cyp1a1 T C 9: 57,607,432 (GRCm39) V20A probably benign Het
Dhx38 C T 8: 110,279,763 (GRCm39) V976I probably damaging Het
Dnah6 A G 6: 73,126,467 (GRCm39) S1287P possibly damaging Het
Dnttip2 T C 3: 122,070,146 (GRCm39) S454P probably damaging Het
Drp2 A T X: 133,335,884 (GRCm39) probably benign Het
Flcn C T 11: 59,694,610 (GRCm39) V121I possibly damaging Het
Fmo1 G C 1: 162,661,217 (GRCm39) Y355* probably null Het
Git2 T A 5: 114,902,727 (GRCm39) H138L probably damaging Het
Gpr162 G A 6: 124,838,658 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnt1 T C 2: 25,797,638 (GRCm39) I881T probably damaging Het
Lama3 T A 18: 12,646,747 (GRCm39) C1754S probably damaging Het
Mpp3 A T 11: 101,914,246 (GRCm39) D116E probably benign Het
Myh11 T C 16: 14,036,747 (GRCm39) D985G probably damaging Het
Necap1 T C 6: 122,864,337 (GRCm39) V273A probably damaging Het
Nlrc5 T C 8: 95,203,192 (GRCm39) S431P probably damaging Het
Nutm2 A T 13: 50,623,920 (GRCm39) T206S probably benign Het
Or2d3 GAACAACAACAA GAACAACAA 7: 106,490,567 (GRCm39) probably benign Het
Or5p79 C T 7: 108,221,096 (GRCm39) L26F probably benign Het
Or8g19 G A 9: 39,055,725 (GRCm39) A110T probably damaging Het
Phactr2 A G 10: 13,129,564 (GRCm39) S235P probably damaging Het
Podnl1 G A 8: 84,853,897 (GRCm39) R89H probably benign Het
Prpf38b T C 3: 108,818,487 (GRCm39) Y91C probably damaging Het
Radil C T 5: 142,480,560 (GRCm39) A632T probably benign Het
Rpap2 G A 5: 107,749,661 (GRCm39) V62I possibly damaging Het
Specc1 T C 11: 62,009,356 (GRCm39) S371P probably damaging Het
Suco T C 1: 161,674,799 (GRCm39) E416G probably damaging Het
Sys1 T C 2: 164,303,315 (GRCm39) W10R probably damaging Het
Tars3 C T 7: 65,332,567 (GRCm39) T556M probably damaging Het
Tcirg1 C T 19: 3,949,069 (GRCm39) D407N probably damaging Het
Tefm G T 11: 80,031,156 (GRCm39) L27I probably benign Het
Tenm2 A G 11: 35,918,225 (GRCm39) I1845T probably benign Het
Tfam A T 10: 71,069,233 (GRCm39) I119N probably damaging Het
Tle1 ACAGGTTTCTTCAGGTTTCTT ACAGGTTTCTT 4: 72,036,400 (GRCm39) probably benign Het
Trpm6 T C 19: 18,804,889 (GRCm39) I947T probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Usp54 T C 14: 20,611,202 (GRCm39) T1205A probably benign Het
Vmn2r25 T C 6: 123,805,496 (GRCm39) R454G probably damaging Het
Xylb T C 9: 119,217,781 (GRCm39) V477A probably benign 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
R2920:Sdf2 UTSW 11 78,145,680 (GRCm39) missense probably damaging 0.97
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'- TGTCAAGATCTAGAGATGCTGTAGAAG -3'
(R):5'- GCTAAGCACCAAGAGGCCAG -3'

Sequencing Primer
(F):5'- AGAAGGAGGTGTGATAGAGGTTTTCC -3'
(R):5'- CCAAGAGGCCAGACAAGTAGC -3'
Posted On 2015-07-06