Incidental Mutation 'R1879:Sdf4'
ID211371
Institutional Source Beutler Lab
Gene Symbol Sdf4
Ensembl Gene ENSMUSG00000029076
Gene Namestromal cell derived factor 4
SynonymsCab45
MMRRC Submission 039900-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.155) question?
Stock #R1879 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location155992872-156013610 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 156009847 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 328 (N328S)
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 damaging
Transcript: ENSMUST00000050078
AA Change: N328S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000053175
Gene: ENSMUSG00000029076
AA Change: N328S

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: ENSMUST00000105578
AA Change: N328S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101203
Gene: ENSMUSG00000029076
AA Change: N328S

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: N328S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101204
Gene: ENSMUSG00000029076
AA Change: N328S

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
  • 1x: 97.3%
  • 3x: 96.6%
  • 10x: 94.9%
  • 20x: 91.6%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik T C 2: 30,796,476 D268G possibly damaging Het
8430408G22Rik G A 6: 116,651,722 V9M possibly damaging Het
Abce1 T C 8: 79,687,456 N542S probably benign Het
Abcf1 T A 17: 35,961,812 E260D probably benign Het
Ahcy A G 2: 155,064,152 probably null Het
Akap13 C T 7: 75,610,727 A1033V probably benign Het
Alkbh6 A G 7: 30,311,895 N46S probably damaging Het
Ankrd34c A C 9: 89,730,073 L72V probably damaging Het
Arf4 T A 14: 26,646,921 N25K probably damaging Het
Arhgef4 A G 1: 34,722,440 D259G unknown Het
Cavin1 C A 11: 100,970,210 G86V probably damaging Het
Ces1d G A 8: 93,189,498 T167I probably benign Het
Cfb T C 17: 34,860,560 I754V probably benign Het
Clcnkb C T 4: 141,407,819 R536H possibly damaging Het
Clpb T G 7: 101,706,483 S181R probably benign Het
Col1a1 T C 11: 94,951,225 M1366T unknown Het
Cped1 T A 6: 22,085,015 probably null Het
Crip1 G A 12: 113,153,332 C82Y probably damaging Het
Csmd3 T C 15: 47,657,519 T2810A possibly damaging Het
Cyp2b9 A T 7: 26,198,569 D266V probably damaging Het
Cyp46a1 A G 12: 108,353,126 D294G probably damaging Het
Dst A G 1: 34,188,843 E1514G probably benign Het
Dync1h1 A G 12: 110,624,636 E1046G probably benign Het
Eya2 T C 2: 165,664,806 V4A probably benign Het
Frem3 A T 8: 80,611,938 R287* probably null Het
Fuca2 T A 10: 13,507,256 C323S possibly damaging Het
Ggt7 T C 2: 155,514,787 E4G possibly damaging Het
Gli1 C T 10: 127,333,737 R383H probably damaging Het
Gm4559 C A 7: 142,274,261 V35F unknown Het
Gpm6a T A 8: 55,037,330 C14S probably damaging Het
Hcn2 A T 10: 79,726,189 I340F probably benign Het
Hdac9 T A 12: 34,390,333 D349V probably damaging Het
Krt34 T C 11: 100,038,292 D364G possibly damaging Het
Mon2 C T 10: 123,002,885 R1565H probably damaging Het
Myb T A 10: 21,141,977 M482L probably benign Het
Nckap1l A T 15: 103,464,601 I294F probably benign Het
Nr2e1 A G 10: 42,568,371 probably null Het
Ntn4 C T 10: 93,707,353 R314W probably damaging Het
Olfr1282 A T 2: 111,335,463 I205N possibly damaging Het
Olfr345 G T 2: 36,640,189 R50M possibly damaging Het
Olfr398 T A 11: 73,984,542 D22V probably benign Het
Olfr652 T C 7: 104,564,911 V230A possibly damaging Het
Pde8b A T 13: 95,085,215 I308N possibly damaging Het
Pdzd2 T C 15: 12,373,900 R2050G possibly damaging Het
Phc3 C A 3: 30,914,458 S840I probably damaging Het
Piezo2 T A 18: 63,113,960 Y327F probably damaging Het
Pnliprp1 A T 19: 58,744,084 I460F probably benign Het
Pphln1 T G 15: 93,424,046 D35E probably damaging Het
Prdm6 G A 18: 53,568,217 V360I probably damaging Het
Rab35 T A 5: 115,640,160 W62R probably damaging Het
Sct G T 7: 141,278,699 P70Q probably damaging Het
Senp5 A T 16: 31,983,824 S488R probably damaging Het
Serpina3n A G 12: 104,408,954 E95G probably benign Het
Sfswap C T 5: 129,541,328 A442V probably benign Het
Sgcd T C 11: 47,355,241 I45V probably benign Het
Sgcg T C 14: 61,236,897 probably null Het
Slc39a12 G T 2: 14,444,057 V489L probably benign Het
Slc5a11 T A 7: 123,239,448 I96N possibly damaging Het
Slc6a12 A G 6: 121,347,423 D2G probably damaging Het
Slc8a1 T C 17: 81,648,013 D532G probably damaging Het
Smarcd3 C A 5: 24,593,021 C465F probably damaging Het
Smc1b T A 15: 85,092,067 Q813L probably benign Het
Spag1 G A 15: 36,181,770 E25K probably damaging Het
Sptan1 A T 2: 29,995,528 N715I probably damaging Het
Tas1r2 T A 4: 139,669,695 Y782N probably damaging Het
Thap3 A T 4: 151,983,136 C162S probably benign Het
Topaz1 T A 9: 122,749,619 D531E possibly damaging Het
Vmn1r25 C T 6: 57,978,927 A126T possibly damaging Het
Zfhx2 A G 14: 55,065,617 F1637L probably benign Het
Zfhx2 T C 14: 55,072,749 Y780C possibly damaging Het
Zfp513 T G 5: 31,200,423 K202T probably damaging Het
Zfp956 A T 6: 47,963,744 T346S probably benign Het
Zkscan1 C T 5: 138,097,148 A219V 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
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
Predicted Primers PCR Primer
(F):5'- ATTAGCCCCGCTTCTCAAGTG -3'
(R):5'- TTAGACCCAATCTGGACCCAGC -3'

Sequencing Primer
(F):5'- AAGTGACCCTTGGGCTGC -3'
(R):5'- TCCACAGGTCTCACTGGAC -3'
Posted On2014-06-30