Incidental Mutation 'IGL02283:Sdf4'
ID289905
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sdf4
Ensembl Gene ENSMUSG00000029076
Gene Namestromal cell derived factor 4
SynonymsCab45
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.146) question?
Stock #IGL02283
Quality Score
Status
Chromosome4
Chromosomal Location155992872-156013610 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 156008836 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 208 (N208K)
Ref Sequence ENSEMBL: ENSMUSP00000101204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050078] [ENSMUST00000105578] [ENSMUST00000105579]
Predicted Effect probably benign
Transcript: ENSMUST00000050078
AA Change: N208K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000053175
Gene: ENSMUSG00000029076
AA Change: N208K

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
low complexity region 44 54 N/A INTRINSIC
EFh 101 129 7.93e-1 SMART
EFh 140 168 3.34e1 SMART
EFh 236 264 3.48e-1 SMART
EFh 284 309 4.08e1 SMART
EFh 317 345 2.9e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105578
AA Change: N208K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101203
Gene: ENSMUSG00000029076
AA Change: N208K

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
low complexity region 44 54 N/A INTRINSIC
EFh 101 129 7.93e-1 SMART
EFh 140 168 3.34e1 SMART
EFh 236 264 3.48e-1 SMART
EFh 284 309 4.08e1 SMART
EFh 317 345 2.9e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105579
AA Change: N208K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101204
Gene: ENSMUSG00000029076
AA Change: N208K

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
low complexity region 44 54 N/A INTRINSIC
EFh 101 129 7.93e-1 SMART
EFh 140 168 3.34e1 SMART
EFh 236 264 3.48e-1 SMART
EFh 284 309 4.08e1 SMART
EFh 317 345 2.9e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149971
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the CREC family. The encoded protein contains multiple calcium-binding EF-hand motifs. This protein localizes to the Golgi lumen and may be involved in regulating calcium dependent cellular activities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 T C 10: 83,495,895 Y682C probably benign Het
Ank1 G A 8: 23,119,434 probably null Het
Arhgap1 A G 2: 91,670,776 N399S probably damaging Het
Atp8a2 A T 14: 60,016,799 I511N possibly damaging Het
Birc6 T A 17: 74,599,940 C1428S probably benign Het
Col18a1 T C 10: 77,113,109 T190A possibly damaging Het
Cpd A T 11: 76,840,425 D318E probably benign Het
Dync2h1 A T 9: 7,125,912 V1898E probably damaging Het
Gon4l T C 3: 88,895,364 M1095T probably damaging Het
Gypa G A 8: 80,494,092 probably benign Het
Irf9 G A 14: 55,607,739 R352H probably damaging Het
Macf1 T C 4: 123,471,375 T1633A probably benign Het
Mars2 T C 1: 55,238,774 V512A probably damaging Het
Myo9a A G 9: 59,871,673 N1571D probably benign Het
Myrfl T C 10: 116,777,360 D846G probably benign Het
Olfr10 A G 11: 49,318,335 D263G probably benign Het
Olfr1423 A G 19: 12,035,855 S296P possibly damaging Het
Olfr319 A T 11: 58,702,276 T192S probably damaging Het
Olfr57 T C 10: 79,035,545 S250P probably damaging Het
Rprd2 A T 3: 95,765,503 S863T probably damaging Het
Sftpd A T 14: 41,172,466 V332D probably benign Het
Sh2b3 T C 5: 121,818,655 D321G probably benign Het
Slc45a2 T A 15: 11,001,182 N122K probably damaging Het
Slk T A 19: 47,641,993 F1170Y probably damaging Het
Spata7 A C 12: 98,658,258 T140P probably damaging Het
Vmn2r117 A G 17: 23,475,382 L497S probably damaging Het
Other mutations in Sdf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01161:Sdf4 APN 4 156009306 missense probably benign 0.00
IGL02666:Sdf4 APN 4 156008824 nonsense probably null
IGL02893:Sdf4 APN 4 155996528 splice site probably benign
IGL03246:Sdf4 APN 4 156000697 missense probably benign 0.01
soap UTSW 4 156002459 splice site probably null
R1648:Sdf4 UTSW 4 155999429 missense probably damaging 0.96
R1879:Sdf4 UTSW 4 156009847 missense probably damaging 1.00
R1893:Sdf4 UTSW 4 156000748 missense probably benign 0.22
R3793:Sdf4 UTSW 4 156002459 splice site probably null
R4255:Sdf4 UTSW 4 156000757 missense probably benign 0.00
R4436:Sdf4 UTSW 4 156008947 critical splice donor site probably null
R4801:Sdf4 UTSW 4 156000721 missense possibly damaging 0.66
R4802:Sdf4 UTSW 4 156000721 missense possibly damaging 0.66
R4868:Sdf4 UTSW 4 156009185 missense probably damaging 1.00
R5752:Sdf4 UTSW 4 155996304 missense probably damaging 1.00
R5813:Sdf4 UTSW 4 155999399 missense probably benign 0.03
Posted On2015-04-16