Incidental Mutation 'IGL02666:Sdf4'
ID302741
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 #IGL02666
Quality Score
Status
Chromosome4
Chromosomal Location155992872-156013610 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 156008824 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 204 (Y204*)
Ref Sequence ENSEMBL: ENSMUSP00000101204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050078] [ENSMUST00000105578] [ENSMUST00000105579]
Predicted Effect probably null
Transcript: ENSMUST00000050078
AA Change: Y204*
SMART Domains Protein: ENSMUSP00000053175
Gene: ENSMUSG00000029076
AA Change: Y204*

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 null
Transcript: ENSMUST00000105578
AA Change: Y204*
SMART Domains Protein: ENSMUSP00000101203
Gene: ENSMUSG00000029076
AA Change: Y204*

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 null
Transcript: ENSMUST00000105579
AA Change: Y204*
SMART Domains Protein: ENSMUSP00000101204
Gene: ENSMUSG00000029076
AA Change: Y204*

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230109A22Rik T C 15: 25,138,858 noncoding transcript Het
Abca15 G A 7: 120,335,208 V136M probably damaging Het
Abhd3 A G 18: 10,645,148 I382T probably benign Het
Cux1 C A 5: 136,275,315 E1336* probably null Het
Cyb5r3 T C 15: 83,160,353 I155V probably damaging Het
Ddx24 T C 12: 103,424,055 T226A possibly damaging Het
Diexf G A 1: 193,107,596 Q752* probably null Het
Dld T C 12: 31,332,409 N465S probably null Het
Dnmbp A G 19: 43,854,127 probably benign Het
Dock9 T C 14: 121,580,699 H1580R probably benign Het
Drd3 C A 16: 43,816,956 probably benign Het
Gabrb2 G T 11: 42,529,495 probably null Het
Gbp9 T C 5: 105,094,275 probably null Het
Inhba A T 13: 16,027,079 I409F possibly damaging Het
Iqgap2 T C 13: 95,628,056 N1560S probably damaging Het
Itsn1 A G 16: 91,820,718 probably benign Het
Kat6b T C 14: 21,628,870 F434L probably damaging Het
Klra1 A G 6: 130,364,315 C232R probably damaging Het
Krt18 T A 15: 102,029,867 I175N probably damaging Het
Lck A G 4: 129,556,419 V178A probably damaging Het
Mroh4 C A 15: 74,609,775 G737V probably benign Het
Mug2 A C 6: 122,081,326 L1282F probably damaging Het
Myo9a A G 9: 59,924,904 N2572S probably benign Het
Nup88 G T 11: 70,943,869 probably benign Het
Nxph3 G T 11: 95,511,008 H193Q possibly damaging Het
Olfr1447 G T 19: 12,900,857 H308N probably benign Het
Orm2 A G 4: 63,365,733 T198A possibly damaging Het
Pom121 T C 5: 135,386,832 I397V unknown Het
Prex1 C A 2: 166,572,989 E1313D probably benign Het
Prkg2 T A 5: 98,997,519 probably benign Het
Prl2a1 A T 13: 27,806,327 K86N possibly damaging Het
Ptpro G A 6: 137,378,059 S188N probably damaging Het
Ptprz1 A T 6: 23,001,210 I1100F probably benign Het
Ryr1 C A 7: 29,019,763 M4406I unknown Het
Serinc1 A T 10: 57,523,993 probably null Het
Slc39a5 C T 10: 128,398,455 R193H probably damaging Het
Smad9 A G 3: 54,782,467 K36R probably damaging Het
Spam1 T A 6: 24,796,124 L25I possibly damaging Het
Stab2 A T 10: 86,850,902 S809R possibly damaging Het
Szt2 G A 4: 118,374,055 R35C probably damaging Het
Tcaf2 C A 6: 42,629,124 probably benign Het
Tfap2d A C 1: 19,104,755 D144A probably benign Het
Tmprss11d A T 5: 86,331,193 V117D probably damaging Het
Tnxb A G 17: 34,684,939 D1141G probably benign Het
Traf6 A T 2: 101,697,167 T421S possibly damaging Het
Txndc16 G A 14: 45,211,150 probably benign Het
Vmn1r73 C A 7: 11,756,938 P228T probably damaging Het
Vmn2r4 A G 3: 64,389,012 I784T probably benign Het
Zfp420 A G 7: 29,874,370 D5G probably benign Het
Other mutations in Sdf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01161:Sdf4 APN 4 156009306 missense probably benign 0.00
IGL02283:Sdf4 APN 4 156008836 missense probably benign
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