Incidental Mutation 'IGL01522:Sdf2l1'
ID89436
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sdf2l1
Ensembl Gene ENSMUSG00000022769
Gene Namestromal cell-derived factor 2-like 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01522
Quality Score
Status
Chromosome16
Chromosomal Location17130138-17132383 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 17132150 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 54 (H54L)
Ref Sequence ENSEMBL: ENSMUSP00000023453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023453]
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

DomainStartEndE-ValueType
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 probably null Het
Adamts12 T C 15: 11,065,159 probably null Het
Adamts3 T C 5: 89,702,943 N579S probably benign Het
Akr1c19 A G 13: 4,239,099 probably benign Het
Ankrd39 T A 1: 36,542,061 H69L probably damaging Het
Apcdd1 T A 18: 62,952,115 M461K possibly damaging Het
Bpifa3 G A 2: 154,137,582 C209Y probably damaging Het
Cep131 T C 11: 120,067,163 E779G probably benign Het
Cep85 T C 4: 134,152,255 Q394R probably damaging Het
Cep85 G T 4: 134,152,256 Q394K probably damaging Het
Clcn6 T C 4: 148,017,535 Y364C probably benign Het
Fetub G A 16: 22,929,641 M1I probably null Het
Greb1 T C 12: 16,701,201 I1003V probably damaging Het
Hsf3 A G X: 96,320,594 probably benign Het
Jcad A G 18: 4,673,312 N358S probably damaging Het
Kndc1 T C 7: 139,913,972 probably benign Het
Lama1 A T 17: 67,752,774 probably benign Het
Mark2 A G 19: 7,281,238 V50A probably benign Het
Mmp7 T C 9: 7,692,228 W35R probably damaging Het
Ndc80 A G 17: 71,499,325 V578A probably benign Het
Nfyc T C 4: 120,781,524 E42G probably damaging Het
Olfr1164 T C 2: 88,093,016 K307E possibly damaging Het
Olfr1504 A T 19: 13,887,358 L284* probably null Het
Olfr344 A G 2: 36,569,221 T208A probably benign Het
Olfr547 A T 7: 102,535,184 I146F probably damaging Het
Olfr935 A T 9: 38,995,100 C112S probably benign Het
Pcdha11 T C 18: 37,185,008 F925L probably damaging Het
Pdcd1 T G 1: 94,040,846 R154S probably benign Het
Pepd T A 7: 34,924,440 D87E probably benign Het
Pfn4 A G 12: 4,770,240 T30A probably benign Het
Pgpep1l A G 7: 68,237,708 M48T possibly damaging Het
Pla2g15 A G 8: 106,163,116 N340S probably benign Het
Plcb4 A G 2: 136,002,627 D155G probably damaging Het
Plg G A 17: 12,404,069 G499S probably damaging Het
Plin3 C T 17: 56,280,799 W305* probably null Het
Polq C A 16: 37,027,903 L291I probably damaging Het
Slc38a2 C T 15: 96,693,055 D276N possibly damaging Het
Syk A G 13: 52,643,061 T576A probably benign Het
Tas2r119 G A 15: 32,178,193 V302I probably benign Het
Uso1 T C 5: 92,181,419 F389L probably damaging Het
Wwc2 T A 8: 47,868,633 Y482F unknown Het
Other mutations in Sdf2l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5736:Sdf2l1 UTSW 16 17131707 missense probably damaging 1.00
R6826:Sdf2l1 UTSW 16 17132294 missense probably benign 0.09
R6827:Sdf2l1 UTSW 16 17132294 missense probably benign 0.09
R6828:Sdf2l1 UTSW 16 17132294 missense probably benign 0.09
R6829:Sdf2l1 UTSW 16 17132294 missense probably benign 0.09
Posted On2013-12-03