Incidental Mutation 'IGL01522:Sdf2l1'
ID 89436
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sdf2l1
Ensembl Gene ENSMUSG00000022769
Gene Name stromal cell-derived factor 2-like 1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01522
Quality Score
Chromosome 16
Chromosomal Location 17130138-17132383 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 17132150 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 54 (H54L)
Ref Sequence ENSEMBL: ENSMUSP00000023453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023453]
AlphaFold Q9ESP1
Predicted Effect probably damaging
Transcript: ENSMUST00000023453
AA Change: H54L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023453
Gene: ENSMUSG00000022769
AA Change: H54L

signal peptide 1 28 N/A INTRINSIC
MIR 33 87 3.58e-10 SMART
MIR 95 150 1.42e-13 SMART
MIR 151 205 6.2e-5 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A G 11: 23,582,865 (GRCm38) probably null Het
Adamts12 T C 15: 11,065,159 (GRCm38) probably null Het
Adamts3 T C 5: 89,702,943 (GRCm38) N579S probably benign Het
Akr1c19 A G 13: 4,239,099 (GRCm38) probably benign Het
Ankrd39 T A 1: 36,542,061 (GRCm38) H69L probably damaging Het
Apcdd1 T A 18: 62,952,115 (GRCm38) M461K possibly damaging Het
Bpifa3 G A 2: 154,137,582 (GRCm38) C209Y probably damaging Het
Cep131 T C 11: 120,067,163 (GRCm38) E779G probably benign Het
Cep85 G T 4: 134,152,256 (GRCm38) Q394K probably damaging Het
Cep85 T C 4: 134,152,255 (GRCm38) Q394R probably damaging Het
Clcn6 T C 4: 148,017,535 (GRCm38) Y364C probably benign Het
Fetub G A 16: 22,929,641 (GRCm38) M1I probably null Het
Greb1 T C 12: 16,701,201 (GRCm38) I1003V probably damaging Het
Hsf3 A G X: 96,320,594 (GRCm38) probably benign Het
Jcad A G 18: 4,673,312 (GRCm38) N358S probably damaging Het
Kndc1 T C 7: 139,913,972 (GRCm38) probably benign Het
Lama1 A T 17: 67,752,774 (GRCm38) probably benign Het
Mark2 A G 19: 7,281,238 (GRCm38) V50A probably benign Het
Mmp7 T C 9: 7,692,228 (GRCm38) W35R probably damaging Het
Ndc80 A G 17: 71,499,325 (GRCm38) V578A probably benign Het
Nfyc T C 4: 120,781,524 (GRCm38) E42G probably damaging Het
Olfr1164 T C 2: 88,093,016 (GRCm38) K307E possibly damaging Het
Olfr1504 A T 19: 13,887,358 (GRCm38) L284* probably null Het
Olfr344 A G 2: 36,569,221 (GRCm38) T208A probably benign Het
Olfr547 A T 7: 102,535,184 (GRCm38) I146F probably damaging Het
Olfr935 A T 9: 38,995,100 (GRCm38) C112S probably benign Het
Pcdha11 T C 18: 37,185,008 (GRCm38) F925L probably damaging Het
Pdcd1 T G 1: 94,040,846 (GRCm38) R154S probably benign Het
Pepd T A 7: 34,924,440 (GRCm38) D87E probably benign Het
Pfn4 A G 12: 4,770,240 (GRCm38) T30A probably benign Het
Pgpep1l A G 7: 68,237,708 (GRCm38) M48T possibly damaging Het
Pla2g15 A G 8: 106,163,116 (GRCm38) N340S probably benign Het
Plcb4 A G 2: 136,002,627 (GRCm38) D155G probably damaging Het
Plg G A 17: 12,404,069 (GRCm38) G499S probably damaging Het
Plin3 C T 17: 56,280,799 (GRCm38) W305* probably null Het
Polq C A 16: 37,027,903 (GRCm38) L291I probably damaging Het
Slc38a2 C T 15: 96,693,055 (GRCm38) D276N possibly damaging Het
Syk A G 13: 52,643,061 (GRCm38) T576A probably benign Het
Tas2r119 G A 15: 32,178,193 (GRCm38) V302I probably benign Het
Uso1 T C 5: 92,181,419 (GRCm38) F389L probably damaging Het
Wwc2 T A 8: 47,868,633 (GRCm38) Y482F unknown Het
Other mutations in Sdf2l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5736:Sdf2l1 UTSW 16 17,131,707 (GRCm38) missense probably damaging 1.00
R6826:Sdf2l1 UTSW 16 17,132,294 (GRCm38) missense probably benign 0.09
R6827:Sdf2l1 UTSW 16 17,132,294 (GRCm38) missense probably benign 0.09
R6828:Sdf2l1 UTSW 16 17,132,294 (GRCm38) missense probably benign 0.09
R6829:Sdf2l1 UTSW 16 17,132,294 (GRCm38) missense probably benign 0.09
R9013:Sdf2l1 UTSW 16 17,130,766 (GRCm38) missense possibly damaging 0.78
R9323:Sdf2l1 UTSW 16 17,131,634 (GRCm38) missense probably damaging 1.00
R9757:Sdf2l1 UTSW 16 17,130,534 (GRCm38) missense probably benign 0.00
Posted On 2013-12-03