Incidental Mutation 'R4371:Sdf2'
ID 326004
Institutional Source Beutler Lab
Gene Symbol Sdf2
Ensembl Gene ENSMUSG00000002064
Gene Name stromal cell derived factor 2
Synonyms
MMRRC Submission 041117-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.251) question?
Stock # R4371 (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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (41/41)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg11 C A 8: 22,558,095 (GRCm39) A469E probably benign Het
Alox12b G A 11: 69,060,442 (GRCm39) R666H possibly damaging Het
Atp9a T C 2: 168,491,535 (GRCm39) T677A 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
Brpf3 C T 17: 29,055,594 (GRCm39) A1181V probably damaging Het
C9 A G 15: 6,520,965 (GRCm39) D470G probably damaging Het
Camsap2 A G 1: 136,215,701 (GRCm39) F337L probably damaging Het
Cep152 G A 2: 125,454,967 (GRCm39) R278W probably damaging Het
Cfb T C 17: 35,079,290 (GRCm39) K287R probably damaging Het
Chfr G A 5: 110,284,034 (GRCm39) R36H probably damaging Het
Cyp4f14 T C 17: 33,128,232 (GRCm39) N261S probably benign Het
Drp2 A T X: 133,335,884 (GRCm39) probably benign Het
Dzip3 A G 16: 48,763,818 (GRCm39) probably null Het
Emb A T 13: 117,405,466 (GRCm39) D296V probably damaging Het
Epha1 T C 6: 42,342,391 (GRCm39) Y319C probably damaging Het
Flcn C T 11: 59,694,610 (GRCm39) V121I possibly damaging Het
Glrp1 GTGCTGCTGCTGCTGCTGCTGCTGCTG GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG 1: 88,430,997 (GRCm39) probably benign Het
Gm6177 A T 1: 160,720,741 (GRCm39) noncoding transcript Het
Hepacam2 A T 6: 3,486,988 (GRCm39) V123E probably damaging Het
Iqsec1 A G 6: 90,671,588 (GRCm39) S194P probably damaging Het
Kat6a T C 8: 23,401,945 (GRCm39) I438T possibly damaging Het
Kcnmb2 A G 3: 32,210,251 (GRCm39) probably null Het
Nbeal1 A T 1: 60,329,105 (GRCm39) K2174N possibly damaging Het
Ncapg G A 5: 45,835,797 (GRCm39) M409I probably benign Het
Ocstamp A G 2: 165,239,233 (GRCm39) S318P possibly damaging Het
Or5p79 C T 7: 108,221,096 (GRCm39) L26F probably benign Het
Phactr2 A G 10: 13,129,564 (GRCm39) S235P probably damaging Het
Pom121l2 T C 13: 22,166,409 (GRCm39) S227P probably benign Het
Sptbn5 A G 2: 119,896,475 (GRCm39) C729R probably damaging Het
Sys1 T C 2: 164,303,315 (GRCm39) W10R probably damaging Het
Tfap4 A G 16: 4,369,863 (GRCm39) I4T probably damaging Het
Thrb C A 14: 18,030,275 (GRCm38) Q340K probably damaging Het
Tnc T C 4: 63,888,588 (GRCm39) Y1735C probably damaging Het
Ubr1 A T 2: 120,725,547 (GRCm39) probably null 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
R4367: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'- GAGCTAAGCACCAAGAGGCC -3'

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