Incidental Mutation 'IGL03085:Srm'
ID 418078
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srm
Ensembl Gene ENSMUSG00000006442
Gene Name spermidine synthase
Synonyms SpdST, SpdSy
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.626) question?
Stock # IGL03085
Quality Score
Status
Chromosome 4
Chromosomal Location 148591503-148594993 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 148593381 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 159 (F159L)
Ref Sequence ENSEMBL: ENSMUSP00000006611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006611]
AlphaFold Q64674
Predicted Effect probably damaging
Transcript: ENSMUST00000006611
AA Change: F159L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000006611
Gene: ENSMUSG00000006442
AA Change: F159L

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
Pfam:Spermine_synth 19 262 6.4e-99 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152701
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The polyamines putrescine, spermine, and spermidine are ubiquitous polycationic mediators of cell growth and differentiation. Spermidine synthase is one of four enzymes in the polyamine-biosynthetic pathway and carries out the final step of spermidine biosynthesis. This enzyme catalyzes the conversion of putrescine to spermidine using decarboxylated S-adenosylmethionine as the cofactor. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik A T 14: 63,971,432 H230Q probably benign Het
Aagab T A 9: 63,639,034 probably benign Het
Actl11 G T 9: 107,929,550 K357N probably damaging Het
Aktip A G 8: 91,126,023 probably null Het
Amtn A G 5: 88,381,642 probably benign Het
Arhgap21 T A 2: 20,914,721 M58L probably benign Het
Art2b T A 7: 101,580,578 Y38F probably damaging Het
Asb10 T C 5: 24,539,603 probably benign Het
Atm A T 9: 53,484,171 D1699E possibly damaging Het
Azi2 A C 9: 118,059,146 K259T probably damaging Het
Bcas3 A G 11: 85,476,783 D77G probably damaging Het
Birc6 G A 17: 74,596,950 R1246H probably damaging Het
Cdh13 C A 8: 119,288,724 D559E probably damaging Het
Chrm3 C T 13: 9,877,534 A489T probably damaging Het
Ckap2l A T 2: 129,285,047 Y404N probably benign Het
Col18a1 A G 10: 77,059,181 probably benign Het
Col4a1 T A 8: 11,222,198 K731* probably null Het
Corin A T 5: 72,353,930 C360S probably damaging Het
Cyp1a1 A C 9: 57,701,712 H292P possibly damaging Het
Dennd5b A G 6: 149,027,395 V760A probably damaging Het
Dhx57 T C 17: 80,258,097 D842G possibly damaging Het
Emp2 C A 16: 10,288,046 probably benign Het
Eral1 G A 11: 78,078,267 R136C probably damaging Het
Fat2 T A 11: 55,283,246 M2214L probably benign Het
Flnb G A 14: 7,882,211 R304H probably benign Het
G6pd2 A T 5: 61,810,302 E473D probably benign Het
Gpx8 A G 13: 113,043,261 Y169H probably damaging Het
Ighv1-64 A G 12: 115,507,841 S19P possibly damaging Het
Ikbkb G T 8: 22,682,786 N139K probably benign Het
Inpp5b A T 4: 124,792,322 T720S probably benign Het
Kmt2d C A 15: 98,839,940 probably benign Het
Lrig2 G A 3: 104,467,259 P169S probably damaging Het
Magi3 T A 3: 104,015,339 K1354I possibly damaging Het
Mapk9 A T 11: 49,867,038 D103V probably damaging Het
Mrpl46 A T 7: 78,781,585 I75N probably damaging Het
Olfr402 T A 11: 74,155,685 I177N probably damaging Het
Olfr890 A G 9: 38,143,183 E16G probably damaging Het
Olfr926 G A 9: 38,877,663 M162I probably benign Het
Otog G T 7: 46,305,922 probably null Het
Pex11a A G 7: 79,737,775 L103P probably damaging Het
Pnpla8 A G 12: 44,311,522 T687A probably benign Het
Ppm1d A G 11: 85,337,163 I302V probably null Het
Prdm11 C A 2: 92,974,959 V549F possibly damaging Het
Prss54 G A 8: 95,565,630 P107L probably benign Het
Rasa3 T A 8: 13,585,690 N422I probably benign Het
Rbm27 T C 18: 42,327,524 probably benign Het
Rpl13-ps3 A T 14: 58,893,707 noncoding transcript Het
Rps6ka2 G A 17: 7,295,280 probably null Het
Sphkap T A 1: 83,280,354 I223F possibly damaging Het
Stt3a A G 9: 36,732,970 probably benign Het
Tacr3 T C 3: 134,932,266 S395P possibly damaging Het
Tecpr2 A G 12: 110,954,826 probably benign Het
Tmub1 C T 5: 24,446,098 G188S probably damaging Het
Trim66 T A 7: 109,458,745 I877F probably benign Het
Ubr5 T C 15: 38,029,568 E471G probably damaging Het
Vmn1r218 A T 13: 23,137,311 Y196F possibly damaging Het
Vmn2r89 T A 14: 51,452,158 D39E probably damaging Het
Wee1 C A 7: 110,124,598 P240Q probably damaging Het
Zc3h12a A T 4: 125,127,020 V10D probably benign Het
Zzef1 T C 11: 72,855,524 probably benign Het
Other mutations in Srm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02708:Srm APN 4 148593346 missense probably benign 0.28
IGL02961:Srm APN 4 148594129 missense possibly damaging 0.73
R0233:Srm UTSW 4 148593372 missense probably damaging 1.00
R0233:Srm UTSW 4 148593372 missense probably damaging 1.00
R1541:Srm UTSW 4 148593424 missense probably damaging 1.00
R2040:Srm UTSW 4 148593996 missense possibly damaging 0.61
R2155:Srm UTSW 4 148592491 missense probably benign 0.28
R2519:Srm UTSW 4 148591504 splice site probably null
R4965:Srm UTSW 4 148594183 missense possibly damaging 0.51
R5497:Srm UTSW 4 148594109 missense probably benign 0.00
R7803:Srm UTSW 4 148593945 missense probably damaging 1.00
R9632:Srm UTSW 4 148591582 start gained probably benign
R9710:Srm UTSW 4 148591582 start gained probably benign
R9722:Srm UTSW 4 148591788 critical splice donor site probably null
Posted On 2016-08-02