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
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01522
Quality Score
Status
Chromosome 16
Chromosomal Location 16948002-16950247 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 16950014 bp (GRCm39)
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

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
Adamts12 T C 15: 11,065,245 (GRCm39) probably null Het
Adamts3 T C 5: 89,850,802 (GRCm39) N579S probably benign Het
Akr1c19 A G 13: 4,289,098 (GRCm39) probably benign Het
Ankrd39 T A 1: 36,581,142 (GRCm39) H69L probably damaging Het
Apcdd1 T A 18: 63,085,186 (GRCm39) M461K possibly damaging Het
Bpifa3 G A 2: 153,979,502 (GRCm39) C209Y probably damaging Het
Cep131 T C 11: 119,957,989 (GRCm39) E779G probably benign Het
Cep85 T C 4: 133,879,566 (GRCm39) Q394R probably damaging Het
Cep85 G T 4: 133,879,567 (GRCm39) Q394K probably damaging Het
Clcn6 T C 4: 148,101,992 (GRCm39) Y364C probably benign Het
Fetub G A 16: 22,748,391 (GRCm39) M1I probably null Het
Greb1 T C 12: 16,751,202 (GRCm39) I1003V probably damaging Het
Hsf3 A G X: 95,364,200 (GRCm39) probably benign Het
Jcad A G 18: 4,673,312 (GRCm39) N358S probably damaging Het
Kndc1 T C 7: 139,493,888 (GRCm39) probably benign Het
Lama1 A T 17: 68,059,769 (GRCm39) probably benign Het
Mark2 A G 19: 7,258,603 (GRCm39) V50A probably benign Het
Mmp7 T C 9: 7,692,229 (GRCm39) W35R probably damaging Het
Ndc80 A G 17: 71,806,320 (GRCm39) V578A probably benign Het
Nfyc T C 4: 120,638,721 (GRCm39) E42G probably damaging Het
Or1j15 A G 2: 36,459,233 (GRCm39) T208A probably benign Het
Or52b4 A T 7: 102,184,391 (GRCm39) I146F probably damaging Het
Or5d37 T C 2: 87,923,360 (GRCm39) K307E possibly damaging Het
Or8g21 A T 9: 38,906,396 (GRCm39) C112S probably benign Het
Or9i16 A T 19: 13,864,722 (GRCm39) L284* probably null Het
Pcdha11 T C 18: 37,318,061 (GRCm39) F925L probably damaging Het
Pdcd1 T G 1: 93,968,571 (GRCm39) R154S probably benign Het
Pepd T A 7: 34,623,865 (GRCm39) D87E probably benign Het
Pfn4 A G 12: 4,820,240 (GRCm39) T30A probably benign Het
Pgpep1l A G 7: 67,887,456 (GRCm39) M48T possibly damaging Het
Pla2g15 A G 8: 106,889,748 (GRCm39) N340S probably benign Het
Plcb4 A G 2: 135,844,547 (GRCm39) D155G probably damaging Het
Plg G A 17: 12,622,956 (GRCm39) G499S probably damaging Het
Plin3 C T 17: 56,587,799 (GRCm39) W305* probably null Het
Polq C A 16: 36,848,265 (GRCm39) L291I probably damaging Het
Sanbr A G 11: 23,532,865 (GRCm39) probably null Het
Slc38a2 C T 15: 96,590,936 (GRCm39) D276N possibly damaging Het
Syk A G 13: 52,797,097 (GRCm39) T576A probably benign Het
Tas2r119 G A 15: 32,178,339 (GRCm39) V302I probably benign Het
Uso1 T C 5: 92,329,278 (GRCm39) F389L probably damaging Het
Wwc2 T A 8: 48,321,668 (GRCm39) Y482F unknown Het
Other mutations in Sdf2l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5736:Sdf2l1 UTSW 16 16,949,571 (GRCm39) missense probably damaging 1.00
R6826:Sdf2l1 UTSW 16 16,950,158 (GRCm39) missense probably benign 0.09
R6827:Sdf2l1 UTSW 16 16,950,158 (GRCm39) missense probably benign 0.09
R6828:Sdf2l1 UTSW 16 16,950,158 (GRCm39) missense probably benign 0.09
R6829:Sdf2l1 UTSW 16 16,950,158 (GRCm39) missense probably benign 0.09
R9013:Sdf2l1 UTSW 16 16,948,630 (GRCm39) missense possibly damaging 0.78
R9323:Sdf2l1 UTSW 16 16,949,498 (GRCm39) missense probably damaging 1.00
R9757:Sdf2l1 UTSW 16 16,948,398 (GRCm39) missense probably benign 0.00
Posted On 2013-12-03