Incidental Mutation 'R1893:Sdf4'
ID 211682
Institutional Source Beutler Lab
Gene Symbol Sdf4
Ensembl Gene ENSMUSG00000029076
Gene Name stromal cell derived factor 4
Synonyms Cab45
MMRRC Submission 039913-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R1893 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 156077329-156098067 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 156085205 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 180 (I180S)
Ref Sequence ENSEMBL: ENSMUSP00000101204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050078] [ENSMUST00000097734] [ENSMUST00000105578] [ENSMUST00000105579]
AlphaFold Q61112
Predicted Effect probably benign
Transcript: ENSMUST00000050078
AA Change: I180S

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000053175
Gene: ENSMUSG00000029076
AA Change: I180S

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: ENSMUST00000097734
AA Change: I180S

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000095340
Gene: ENSMUSG00000029076
AA Change: I180S

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
Predicted Effect probably benign
Transcript: ENSMUST00000105578
AA Change: I180S

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101203
Gene: ENSMUSG00000029076
AA Change: I180S

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: I180S

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101204
Gene: ENSMUSG00000029076
AA Change: I180S

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: ENSMUST00000124872
Meta Mutation Damage Score 0.2938 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
Validation Efficiency 99% (99/100)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,415,928 (GRCm39) Y674H possibly damaging Het
Aars2 G A 17: 45,825,725 (GRCm39) R347Q probably benign Het
Abca15 A T 7: 119,939,776 (GRCm39) M293L possibly damaging Het
Abcb7 A T X: 103,386,142 (GRCm39) H97Q probably damaging Het
Aldh1l2 G T 10: 83,328,400 (GRCm39) N772K probably damaging Het
Ascc2 T A 11: 4,622,305 (GRCm39) L457Q probably benign Het
Aspm T A 1: 139,407,605 (GRCm39) I2164N probably damaging Het
Cabs1 A G 5: 88,127,894 (GRCm39) T182A probably benign Het
Carmil1 T C 13: 24,208,446 (GRCm39) E833G possibly damaging Het
Ccdc102a G A 8: 95,640,171 (GRCm39) T41M probably damaging Het
Cimap1c A G 9: 56,756,498 (GRCm39) Y173H probably benign Het
Clec2h T C 6: 128,647,795 (GRCm39) V48A probably benign Het
Cpb2 G A 14: 75,493,403 (GRCm39) V27I probably benign Het
Cr2 T C 1: 194,837,495 (GRCm39) H1201R probably benign Het
Cyp2d9 T C 15: 82,336,807 (GRCm39) V52A probably damaging Het
Cyp4a12a C A 4: 115,183,864 (GRCm39) N223K probably benign Het
Cyp7b1 G A 3: 18,150,731 (GRCm39) S336L possibly damaging Het
Dnah10 T C 5: 124,831,381 (GRCm39) V803A probably benign Het
Dnah17 T A 11: 117,957,794 (GRCm39) T2745S probably benign Het
Ep300 T A 15: 81,515,847 (GRCm39) probably benign Het
Epha3 A G 16: 63,388,762 (GRCm39) S829P probably damaging Het
Fads3 C A 19: 10,033,868 (GRCm39) H418N probably benign Het
Fat1 T C 8: 45,476,893 (GRCm39) S1980P probably damaging Het
Fgf20 T C 8: 40,732,844 (GRCm39) E198G possibly damaging Het
Fgl2 G A 5: 21,580,669 (GRCm39) R337H probably benign Het
Gbp2 G T 3: 142,335,933 (GRCm39) probably benign Het
Gja10 G A 4: 32,601,541 (GRCm39) S281L probably benign Het
Gm5422 G A 10: 31,125,609 (GRCm39) noncoding transcript Het
Gmpr T A 13: 45,674,423 (GRCm39) D129E possibly damaging Het
Gtf3c4 C T 2: 28,724,374 (GRCm39) V453I possibly damaging Het
Heatr6 T C 11: 83,648,140 (GRCm39) V111A probably benign Het
Hipk3 G A 2: 104,263,601 (GRCm39) R905W probably damaging Het
Hpn T A 7: 30,798,773 (GRCm39) D103V probably damaging Het
Ipcef1 G A 10: 6,850,680 (GRCm39) R304W probably damaging Het
Iqcb1 A G 16: 36,652,245 (GRCm39) D52G probably damaging Het
Klhdc7b C T 15: 89,271,898 (GRCm39) probably null Het
Klhl1 A T 14: 96,477,642 (GRCm39) probably null Het
Lrrn1 A T 6: 107,545,083 (GRCm39) I294F possibly damaging Het
Map3k1 A T 13: 111,904,567 (GRCm39) F406I possibly damaging Het
Map4k4 T A 1: 40,040,717 (GRCm39) V579E probably benign Het
Mapre2 A G 18: 23,986,774 (GRCm39) K62R probably damaging Het
Mdga1 A T 17: 30,068,200 (GRCm39) Y305N probably damaging Het
Mgl2 T A 11: 70,024,993 (GRCm39) probably null Het
Mnx1 C T 5: 29,682,828 (GRCm39) G149D unknown Het
Mtbp T A 15: 55,421,064 (GRCm39) S17T probably benign Het
Neu3 T C 7: 99,472,627 (GRCm39) T37A possibly damaging Het
Nr1i3 T C 1: 171,044,792 (GRCm39) probably null Het
Or10al2 A T 17: 37,983,747 (GRCm39) K278* probably null Het
Or10g6 A T 9: 39,934,270 (GRCm39) I194F possibly damaging Het
Or6ae1 T C 7: 139,742,734 (GRCm39) N43S probably damaging Het
Or9s18 T A 13: 65,300,806 (GRCm39) M256K possibly damaging Het
Osr2 A G 15: 35,300,608 (GRCm39) T55A possibly damaging Het
Palld A G 8: 61,969,655 (GRCm39) V981A probably damaging Het
Pbx1 A T 1: 168,030,979 (GRCm39) M213K possibly damaging Het
Pcdhb12 C A 18: 37,570,136 (GRCm39) H427Q probably benign Het
Perm1 C T 4: 156,302,340 (GRCm39) R295C probably benign Het
Phaf1 G T 8: 105,973,133 (GRCm39) V248F probably damaging Het
Polm T C 11: 5,785,574 (GRCm39) T162A possibly damaging Het
Prox1 A G 1: 189,892,715 (GRCm39) probably benign Het
Ptpn7 A T 1: 135,062,641 (GRCm39) T127S probably benign Het
Pxk C T 14: 8,151,507 (GRCm38) R441* probably null Het
Rab21 T C 10: 115,126,805 (GRCm39) T181A probably benign Het
Rab38 A T 7: 88,139,924 (GRCm39) T198S probably benign Het
Rnase4 C G 14: 51,342,395 (GRCm39) Q40E possibly damaging Het
Rnf213 T A 11: 119,307,274 (GRCm39) W645R probably damaging Het
Rnf8 A G 17: 29,840,524 (GRCm39) I51M probably damaging Het
Sbpl T A 17: 24,172,241 (GRCm39) D226V unknown Het
Simc1 A G 13: 54,687,528 (GRCm39) K99R probably damaging Het
Slc2a4 T C 11: 69,837,398 (GRCm39) Q49R probably damaging Het
Slco1a4 T C 6: 141,780,342 (GRCm39) probably null Het
Slco5a1 C A 1: 12,964,696 (GRCm39) C527F probably damaging Het
Sox6 T A 7: 115,143,803 (GRCm39) N405I probably benign Het
Sphkap G A 1: 83,256,687 (GRCm39) P354L probably benign Het
Spi1 A G 2: 90,944,702 (GRCm39) D149G probably benign Het
Sptan1 T A 2: 29,910,472 (GRCm39) D1812E probably damaging Het
Sub1 A T 15: 11,991,130 (GRCm39) V37E possibly damaging Het
Sult2a6 T C 7: 13,959,814 (GRCm39) T240A probably benign Het
Tacc2 A G 7: 130,227,055 (GRCm39) S1247G probably benign Het
Taf4 T C 2: 179,574,823 (GRCm39) D594G probably damaging Het
Tap1 T G 17: 34,413,915 (GRCm39) D643E probably damaging Het
Ticam1 T C 17: 56,578,894 (GRCm39) N67S probably benign Het
Tlr6 A G 5: 65,110,556 (GRCm39) F784L probably damaging Het
Tmprss15 A G 16: 78,868,306 (GRCm39) V202A probably benign Het
Trp53bp2 T C 1: 182,259,193 (GRCm39) V82A probably benign Het
Ube2o C T 11: 116,439,661 (GRCm39) V170I possibly damaging Het
Ube2q2l A G 6: 136,378,825 (GRCm39) S2P possibly damaging Het
Vmn1r177 G A 7: 23,565,573 (GRCm39) T101I probably benign Het
Vmn2r68 A T 7: 84,883,867 (GRCm39) Y79* probably null Het
Wdr35 A C 12: 9,035,994 (GRCm39) Y255S probably benign Het
Zfp507 A T 7: 35,502,052 (GRCm39) probably benign Het
Zfp688 G A 7: 127,018,409 (GRCm39) R239C probably damaging Het
Zfp74 T A 7: 29,635,470 (GRCm39) probably null Het
Zfp932 A G 5: 110,157,069 (GRCm39) N223D possibly damaging Het
Other mutations in Sdf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01161:Sdf4 APN 4 156,093,763 (GRCm39) missense probably benign 0.00
IGL02283:Sdf4 APN 4 156,093,293 (GRCm39) missense probably benign
IGL02666:Sdf4 APN 4 156,093,281 (GRCm39) nonsense probably null
IGL02893:Sdf4 APN 4 156,080,985 (GRCm39) splice site probably benign
IGL03246:Sdf4 APN 4 156,085,154 (GRCm39) missense probably benign 0.01
soap UTSW 4 156,086,916 (GRCm39) splice site probably null
R1648:Sdf4 UTSW 4 156,083,886 (GRCm39) missense probably damaging 0.96
R1879:Sdf4 UTSW 4 156,094,304 (GRCm39) missense probably damaging 1.00
R3793:Sdf4 UTSW 4 156,086,916 (GRCm39) splice site probably null
R4255:Sdf4 UTSW 4 156,085,214 (GRCm39) missense probably benign 0.00
R4436:Sdf4 UTSW 4 156,093,404 (GRCm39) critical splice donor site probably null
R4801:Sdf4 UTSW 4 156,085,178 (GRCm39) missense possibly damaging 0.66
R4802:Sdf4 UTSW 4 156,085,178 (GRCm39) missense possibly damaging 0.66
R4868:Sdf4 UTSW 4 156,093,642 (GRCm39) missense probably damaging 1.00
R5752:Sdf4 UTSW 4 156,080,761 (GRCm39) missense probably damaging 1.00
R5813:Sdf4 UTSW 4 156,083,856 (GRCm39) missense probably benign 0.03
R7501:Sdf4 UTSW 4 156,080,977 (GRCm39) critical splice donor site probably null
R8109:Sdf4 UTSW 4 156,094,295 (GRCm39) missense probably damaging 0.99
R8167:Sdf4 UTSW 4 156,093,379 (GRCm39) missense possibly damaging 0.95
R8867:Sdf4 UTSW 4 156,093,759 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTGTGATTGCCTGTAGCTC -3'
(R):5'- CTTTTGTGACTCAAGGCCTTG -3'

Sequencing Primer
(F):5'- CTCAGGATTTCTAGCAGGTGTCC -3'
(R):5'- TTGTGACTCAAGGCCTTGACAAAG -3'
Posted On 2014-06-30