Incidental Mutation 'IGL03355:Spred3'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spred3
Ensembl Gene ENSMUSG00000037239
Gene Namesprouty-related, EVH1 domain containing 3
SynonymsD130060H24Rik, Spred-3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03355
Quality Score
Chromosomal Location29158829-29170411 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 29161572 bp
Amino Acid Change Cysteine to Tyrosine at position 394 (C394Y)
Ref Sequence ENSEMBL: ENSMUSP00000046216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048923]
Predicted Effect unknown
Transcript: ENSMUST00000048923
AA Change: C394Y
SMART Domains Protein: ENSMUSP00000046216
Gene: ENSMUSG00000037239
AA Change: C394Y

Pfam:WH1 1 110 1.6e-13 PFAM
low complexity region 120 130 N/A INTRINSIC
low complexity region 142 153 N/A INTRINSIC
Pfam:Sprouty 292 400 7.1e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184073
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205672
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207778
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a C-terminal Sprouty-like cysteine-rich domain (SRY) and an N-terminal Ena/Vasodilator-stimulated phosphoprotein (VASP) homology-1 (EVH-1) domain. The encoded protein is a member of a family of proteins that negatively regulates mitogen-activated protein (MAP) kinase signaling, particularly during organogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610002M06Rik C A X: 107,788,283 V180F possibly damaging Het
Actrt1 T C X: 46,329,747 V213A probably benign Het
Adam28 A T 14: 68,634,803 probably benign Het
Apeh T C 9: 108,086,445 H557R probably benign Het
Atmin T A 8: 116,957,425 L608* probably null Het
B3gnt5 A T 16: 19,769,153 M41L probably benign Het
Best3 T C 10: 116,993,105 F97L possibly damaging Het
Col7a1 G A 9: 108,978,160 V2486M unknown Het
Crym T C 7: 120,199,313 probably null Het
Cubn T C 2: 13,478,057 probably null Het
Dnah7b A G 1: 46,119,304 D349G probably benign Het
Eea1 T C 10: 96,042,212 probably benign Het
Emc1 C T 4: 139,371,593 probably benign Het
Eps8 T C 6: 137,512,145 probably benign Het
Ereg A G 5: 91,088,581 probably benign Het
Faah G A 4: 116,002,528 P369S probably benign Het
Fam135a A T 1: 24,029,168 N703K possibly damaging Het
Frmpd1 T C 4: 45,279,140 S622P probably damaging Het
Gm10030 A G 9: 111,006,773 noncoding transcript Het
Gpr179 A T 11: 97,337,608 S1240R possibly damaging Het
Hax1 A T 3: 89,997,447 H146Q possibly damaging Het
Ift46 A G 9: 44,782,148 N31D possibly damaging Het
Kel C T 6: 41,698,887 probably null Het
Khk A T 5: 30,929,560 I108L probably benign Het
Morc4 T C X: 139,849,682 N375S probably null Het
Mta3 A T 17: 83,800,045 probably benign Het
Nacc2 T C 2: 26,062,237 K369R probably damaging Het
Nkap T C X: 37,139,670 probably benign Het
Obscn A T 11: 59,037,792 L6016Q probably damaging Het
Olfr25 A T 9: 38,329,656 Q20L probably benign Het
Olfr589 T C 7: 103,155,201 E182G probably damaging Het
Pde4c T A 8: 70,746,595 L182Q probably damaging Het
Pla2g10 G T 16: 13,730,420 probably null Het
Rap1gap2 T A 11: 74,412,344 I426F probably damaging Het
Rbm33 C A 5: 28,391,061 probably benign Het
Rnf139 C A 15: 58,900,032 D635E probably benign Het
Sar1a T C 10: 61,684,939 V15A possibly damaging Het
Scarb1 A C 5: 125,289,702 S56A probably benign Het
Scn3a T C 2: 65,460,568 K1945E possibly damaging Het
Sec62 G A 3: 30,809,922 G118R unknown Het
Sgce T A 6: 4,689,738 Q356L probably damaging Het
Slco4c1 A T 1: 96,842,507 Y277* probably null Het
Smarca4 C T 9: 21,635,836 T219I probably benign Het
Sphkap A T 1: 83,280,503 I173N probably damaging Het
Stra6l A G 4: 45,873,689 D283G probably benign Het
Tipin A T 9: 64,288,124 Q4L probably benign Het
Tmprss11c T A 5: 86,231,871 I380F probably benign Het
Tymp T C 15: 89,375,016 D195G possibly damaging Het
Ugt2b34 T A 5: 86,906,685 Y79F probably benign Het
Vmn2r16 T A 5: 109,363,714 S596T possibly damaging Het
Wdhd1 A G 14: 47,243,889 S1024P possibly damaging Het
Other mutations in Spred3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Spred3 APN 7 29161523 utr 3 prime probably benign
IGL02391:Spred3 APN 7 29166405 missense probably benign 0.00
R0480:Spred3 UTSW 7 29162975 missense probably damaging 0.99
R2396:Spred3 UTSW 7 29166634 missense probably damaging 1.00
R4161:Spred3 UTSW 7 29161785 missense probably damaging 1.00
R4899:Spred3 UTSW 7 29161833 missense probably damaging 1.00
R4974:Spred3 UTSW 7 29167824 missense probably damaging 1.00
R5291:Spred3 UTSW 7 29167830 missense probably damaging 1.00
R6192:Spred3 UTSW 7 29162977 missense probably benign 0.08
R8711:Spred3 UTSW 7 29166661 missense possibly damaging 0.91
R8853:Spred3 UTSW 7 29161990 missense probably benign 0.13
Posted On2016-08-02