Incidental Mutation 'R5752:Sdf4'
ID 444835
Institutional Source Beutler Lab
Gene Symbol Sdf4
Ensembl Gene ENSMUSG00000029076
Gene Name stromal cell derived factor 4
Synonyms Cab45
MMRRC Submission 043357-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R5752 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 156077329-156098067 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 156080761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 37 (P37S)
Ref Sequence ENSEMBL: ENSMUSP00000101204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050078] [ENSMUST00000052185] [ENSMUST00000097734] [ENSMUST00000105578] [ENSMUST00000105579]
AlphaFold Q61112
Predicted Effect probably damaging
Transcript: ENSMUST00000050078
AA Change: P37S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053175
Gene: ENSMUSG00000029076
AA Change: P37S

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 damaging
Transcript: ENSMUST00000097734
AA Change: P37S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095340
Gene: ENSMUSG00000029076
AA Change: P37S

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 damaging
Transcript: ENSMUST00000105578
AA Change: P37S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101203
Gene: ENSMUSG00000029076
AA Change: P37S

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 damaging
Transcript: ENSMUST00000105579
AA Change: P37S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101204
Gene: ENSMUSG00000029076
AA Change: P37S

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 0.4327 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 98% (58/59)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330017A19Rik C A 17: 47,200,966 (GRCm39) probably benign Het
Aldh1l2 C A 10: 83,356,244 (GRCm39) G49C probably damaging Het
Arhgap26 G A 18: 39,419,725 (GRCm39) E11K probably damaging Het
Asns C T 6: 7,689,365 (GRCm39) G46S probably damaging Het
Atrn G T 2: 130,748,464 (GRCm39) probably benign Het
Cep126 A C 9: 8,120,746 (GRCm39) Y92* probably null Het
Cfap69 T C 5: 5,639,204 (GRCm39) T567A probably damaging Het
Clgn T A 8: 84,123,670 (GRCm39) Y61N probably damaging Het
Col28a1 T G 6: 8,015,025 (GRCm39) K793N possibly damaging Het
Cxcl9 C A 5: 92,471,715 (GRCm39) M108I probably benign Het
Cyp4f37 A T 17: 32,850,306 (GRCm39) I318F probably damaging Het
Daam1 T C 12: 71,993,320 (GRCm39) M363T unknown Het
Dnajc13 A C 9: 104,069,973 (GRCm39) probably null Het
Entpd2 G A 2: 25,289,781 (GRCm39) probably benign Het
F3 T A 3: 121,526,053 (GRCm39) N205K probably damaging Het
Fat2 A T 11: 55,180,063 (GRCm39) F1426Y possibly damaging Het
Galnt6 A T 15: 100,602,007 (GRCm39) F267I probably damaging Het
Gm1322 G A 2: 67,014,979 (GRCm39) noncoding transcript Het
Hdgfl3 A C 7: 81,549,451 (GRCm39) S143A possibly damaging Het
Ints7 T A 1: 191,308,005 (GRCm39) D12E probably benign Het
Kank3 A G 17: 34,037,037 (GRCm39) T114A probably benign Het
Lrp1b A G 2: 41,185,624 (GRCm39) Y1364H probably damaging Het
Mef2b A G 8: 70,618,267 (GRCm39) T116A possibly damaging Het
Megf8 C T 7: 25,054,539 (GRCm39) T1885I probably damaging Het
Mrps11 A G 7: 78,433,343 (GRCm39) K30E probably benign Het
Naca T A 10: 127,877,797 (GRCm39) probably benign Het
Ncoa4-ps A G 12: 119,226,349 (GRCm39) noncoding transcript Het
Nhsl3 GGTG GGTGTG 4: 129,117,773 (GRCm39) probably null Het
Or2at1 T C 7: 99,417,155 (GRCm39) I262T probably benign Het
Paip2b C T 6: 83,808,252 (GRCm39) probably null Het
Plcb2 G T 2: 118,541,532 (GRCm39) probably benign Het
Plcd4 A G 1: 74,587,131 (GRCm39) probably null Het
Pnpla8 A G 12: 44,329,670 (GRCm39) N74S probably benign Het
Pot1b A T 17: 55,994,834 (GRCm39) I276N probably damaging Het
Qprt C T 7: 126,708,416 (GRCm39) G5D probably benign Het
Rab11fip1 T C 8: 27,646,614 (GRCm39) N154S probably damaging Het
Rin3 G A 12: 102,279,378 (GRCm39) probably benign Het
Selp A T 1: 163,964,811 (GRCm39) D491V probably damaging Het
Sh3gl3 A G 7: 81,824,696 (GRCm39) probably benign Het
Sp110 G C 1: 85,504,923 (GRCm39) probably benign Het
Spata31d1e T C 13: 59,891,016 (GRCm39) Y268C probably damaging Het
Tas2r134 A G 2: 51,517,880 (GRCm39) R120G probably damaging Het
Tgfbr3 T C 5: 107,287,673 (GRCm39) R509G probably benign Het
Tle3 T A 9: 61,314,753 (GRCm39) Y231N probably damaging Het
Top6bl C A 19: 4,676,048 (GRCm39) A695S probably benign Het
Ttc41 C T 10: 86,594,210 (GRCm39) T881I probably benign Het
Ttll8 T C 15: 88,816,931 (GRCm39) Y271C probably benign Het
Ttn A T 2: 76,778,328 (GRCm39) I1307K possibly damaging Het
Ube2k A G 5: 65,723,411 (GRCm39) D48G probably damaging Het
Vcan T C 13: 89,828,069 (GRCm39) T3126A probably damaging Het
Vps13d T C 4: 144,875,540 (GRCm39) T1656A probably benign Het
Zzz3 C A 3: 152,157,759 (GRCm39) S777R 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
R1893:Sdf4 UTSW 4 156,085,205 (GRCm39) missense probably benign 0.22
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
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'- GCAGTGCTAGTAACCCAGAGAC -3'
(R):5'- GCTCTGAGTCTTCATCAAACCC -3'

Sequencing Primer
(F):5'- CCCAGAGACTTTGTAGTATCCAGG -3'
(R):5'- TGAGTCTTCATCAAACCCATCCATG -3'
Posted On 2016-11-21