Incidental Mutation 'R7501:Sdf4'
ID581464
Institutional Source Beutler Lab
Gene Symbol Sdf4
Ensembl Gene ENSMUSG00000029076
Gene Namestromal cell derived factor 4
SynonymsCab45
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.122) question?
Stock #R7501 (G1)
Quality Score225.009
Status Validated
Chromosome4
Chromosomal Location155992872-156013610 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 155996520 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000053175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050078] [ENSMUST00000052185] [ENSMUST00000097734] [ENSMUST00000105578] [ENSMUST00000105579]
Predicted Effect probably null
Transcript: ENSMUST00000050078
SMART Domains Protein: ENSMUSP00000053175
Gene: ENSMUSG00000029076

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: ENSMUST00000052185
SMART Domains Protein: ENSMUSP00000057521
Gene: ENSMUSG00000050796

DomainStartEndE-ValueType
transmembrane domain 12 30 N/A INTRINSIC
Pfam:Galactosyl_T 65 256 1e-29 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000097734
SMART Domains Protein: ENSMUSP00000095340
Gene: ENSMUSG00000029076

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 null
Transcript: ENSMUST00000105578
SMART Domains Protein: ENSMUSP00000101203
Gene: ENSMUSG00000029076

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
SMART Domains Protein: ENSMUSP00000101204
Gene: ENSMUSG00000029076

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (61/61)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 A G 3: 36,088,825 N503S probably benign Het
Adam1a C T 5: 121,518,948 A761T possibly damaging Het
Amn1 C T 6: 149,185,031 M44I probably benign Het
Ankrd44 T C 1: 54,649,363 E238G Het
Ap3b2 A T 7: 81,473,446 I440K probably damaging Het
Atp2a1 G A 7: 126,450,172 T566I probably benign Het
B3galnt1 T C 3: 69,575,299 I210V probably benign Het
Bag5 T C 12: 111,710,288 K367R probably benign Het
Cdc25b T C 2: 131,194,160 Y410H probably damaging Het
Cgref1 G T 5: 30,945,456 P7Q probably damaging Het
Cnot6 T C 11: 49,685,332 I136V probably benign Het
Comp A G 8: 70,379,409 D500G possibly damaging Het
Dnah7b T C 1: 46,356,554 L3872P probably damaging Het
Dync2h1 A T 9: 7,175,336 L91Q possibly damaging Het
Fancd2 T C 6: 113,548,403 V280A possibly damaging Het
Fat4 T A 3: 38,958,448 Y2297* probably null Het
Fem1c A T 18: 46,505,801 M378K probably damaging Het
Gata6 A G 18: 11,054,082 T4A probably damaging Het
Gatb G C 3: 85,636,990 V422L probably damaging Het
Gfpt1 T A 6: 87,082,526 D510E probably benign Het
Gm12394 T C 4: 42,791,357 E925G probably damaging Het
Gria4 A T 9: 4,502,436 Y366N probably benign Het
Gucy1b1 T C 3: 82,035,359 H492R probably damaging Het
Hecw2 T C 1: 53,913,872 probably null Het
Hist1h2be A G 13: 23,585,793 I55T possibly damaging Het
Hnrnph1 A C 11: 50,379,556 E62D probably benign Het
Itga2 A G 13: 114,875,559 V274A probably damaging Het
Kdm5d T A Y: 941,488 W1230R probably damaging Het
Lctl A T 9: 64,131,579 M317L probably benign Het
Lrp6 T C 6: 134,486,508 D570G probably damaging Het
Lrrc9 G T 12: 72,449,716 M39I probably damaging Het
Ltbp2 A T 12: 84,830,645 I402N probably damaging Het
Mst1 G A 9: 108,082,549 G297D probably damaging Het
Muc6 G C 7: 141,637,746 P2338R probably damaging Het
Nbr1 G A 11: 101,566,200 R163Q probably damaging Het
Nlrp4f A G 13: 65,194,329 F501L probably damaging Het
Nup133 A C 8: 123,922,414 I563S probably benign Het
Oacyl T G 18: 65,725,298 probably null Het
Oog4 CAA CA 4: 143,437,452 probably null Het
Plxna2 C T 1: 194,643,895 R46C possibly damaging Het
Ppp1r26 T A 2: 28,450,737 D126E probably damaging Het
Prl6a1 A T 13: 27,316,299 R84S possibly damaging Het
Ptprz1 C T 6: 23,001,747 Q1279* probably null Het
Ptx4 C T 17: 25,125,192 T472I possibly damaging Het
Rabgap1l A G 1: 160,700,788 V416A probably damaging Het
Rbfox2 A T 15: 77,105,634 D231E probably benign Het
Reln A T 5: 22,227,638 F121L possibly damaging Het
Rfx7 G A 9: 72,616,772 V415I probably benign Het
Scaf4 A T 16: 90,230,076 M951K unknown Het
Sec16a T C 2: 26,441,851 T51A probably damaging Het
Sema3a A G 5: 13,557,041 N281S probably damaging Het
Snai2 G A 16: 14,706,890 V87I possibly damaging Het
Synj2 T A 17: 5,990,239 S197T possibly damaging Het
Syt6 A T 3: 103,587,702 M328L probably benign Het
Tdrd12 A G 7: 35,478,091 V946A unknown Het
Trat1 A T 16: 48,754,294 probably null Het
Vmn1r75 T A 7: 11,881,070 I243K possibly damaging Het
Vmn2r83 G A 10: 79,491,937 C793Y probably damaging Het
Wnt9a G A 11: 59,328,757 G203D probably damaging Het
Xrn2 T C 2: 147,029,756 I366T probably damaging Het
Zfp280d A G 9: 72,361,942 D787G possibly damaging Het
Zfp706 T C 15: 37,001,925 T53A probably damaging 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
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
R8109:Sdf4 UTSW 4 156009838 missense probably damaging 0.99
R8167:Sdf4 UTSW 4 156008922 missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- AGGAAAATGAGATCATGCCCC -3'
(R):5'- AAGTCTACCTTGAGGCCTTCC -3'

Sequencing Primer
(F):5'- CCAGACCACCTGAATGGGG -3'
(R):5'- AGCTTAGGCCCTCCAAGTC -3'
Posted On2019-10-17