Incidental Mutation 'IGL01161:Sdf4'
ID53512
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: 0.151) question?
Stock #IGL01161
Quality Score
Status
Chromosome4
Chromosomal Location155992872-156013610 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 156009306 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 299 (M299K)
Ref Sequence ENSEMBL: ENSMUSP00000101204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030952] [ENSMUST00000050078] [ENSMUST00000105578] [ENSMUST00000105579]
Predicted Effect probably benign
Transcript: ENSMUST00000030952
SMART Domains Protein: ENSMUSP00000030952
Gene: ENSMUSG00000029075

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
TNFR 27 60 6.24e-6 SMART
TNFR 63 103 1.33e-9 SMART
TNFR 126 164 2.59e-3 SMART
transmembrane domain 213 235 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000050078
AA Change: M299K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000053175
Gene: ENSMUSG00000029076
AA Change: M299K

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: M299K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000101203
Gene: ENSMUSG00000029076
AA Change: M299K

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: M299K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000101204
Gene: ENSMUSG00000029076
AA Change: M299K

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: ENSMUST00000127377
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143576
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 T A 2: 103,705,118 D543E probably benign Het
Acad9 A C 3: 36,090,125 N583T possibly damaging Het
Arhgap5 G A 12: 52,516,860 V205M probably damaging Het
Arid1b G A 17: 5,342,399 R2068Q probably damaging Het
Bex3 T C X: 136,271,469 F60S probably damaging Het
Casd1 C T 6: 4,619,833 P193S possibly damaging Het
Ceacam11 A T 7: 17,978,510 I295F possibly damaging Het
Ceacam3 T A 7: 17,151,857 N128K probably benign Het
Cyp1a2 C T 9: 57,679,893 E372K probably damaging Het
Ddb1 T G 19: 10,605,707 M1R probably null Het
Ecel1 T C 1: 87,153,193 D329G possibly damaging Het
Fat2 T C 11: 55,284,191 N1899D probably benign Het
Gli3 A G 13: 15,548,398 probably null Het
Gm20507 A T 17: 33,644,753 probably benign Het
Gml T G 15: 74,813,839 Y99S probably damaging Het
Gpr119 G T X: 48,673,248 probably benign Het
Hcn1 T C 13: 117,656,922 Y237H unknown Het
Hook2 G A 8: 84,994,931 V273I probably benign Het
Il12rb2 T C 6: 67,361,865 probably benign Het
Kdm2a A G 19: 4,319,251 F1112S probably benign Het
Lpl A T 8: 68,892,625 K94* probably null Het
Lrrc8a T A 2: 30,255,810 L212Q probably damaging Het
Me2 A T 18: 73,770,816 probably benign Het
Mmp11 A T 10: 75,926,821 M266K probably benign Het
Mprip T A 11: 59,731,573 V162E possibly damaging Het
Nsf C T 11: 103,861,885 probably benign Het
Olfr661 T C 7: 104,688,381 V122A probably benign Het
Pcif1 T A 2: 164,885,788 L167H probably damaging Het
Reps1 T C 10: 18,093,895 S249P probably damaging Het
Slc30a7 A G 3: 115,954,110 V344A possibly damaging Het
Svep1 G A 4: 58,146,569 P358S probably damaging Het
Syt9 G T 7: 107,425,149 R83L probably damaging Het
Tbc1d15 T C 10: 115,202,530 I593V probably benign Het
Trio T A 15: 27,749,781 N1134I probably damaging Het
Trpv3 A G 11: 73,296,718 probably benign Het
Ugp2 T A 11: 21,323,273 I449L possibly damaging Het
Usp24 C A 4: 106,436,844 H2595N probably benign Het
Vat1l A G 8: 114,369,889 N370S possibly damaging Het
Wwc1 C A 11: 35,867,276 D748Y probably damaging Het
Zfyve9 G A 4: 108,681,064 H1002Y probably damaging Het
Other mutations in Sdf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02283:Sdf4 APN 4 156008836 missense probably benign
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
R7501:Sdf4 UTSW 4 155996520 critical splice donor site probably null
R8109:Sdf4 UTSW 4 156009838 missense probably damaging 0.99
R8167:Sdf4 UTSW 4 156008922 missense possibly damaging 0.95
R8867:Sdf4 UTSW 4 156009302 missense probably damaging 1.00
Posted On2013-06-28