Incidental Mutation 'IGL03268:Srr'
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ID415155
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srr
Ensembl Gene ENSMUSG00000001323
Gene Nameserine racemase
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.235) question?
Stock #IGL03268
Quality Score
Status
Chromosome11
Chromosomal Location74906359-74925948 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 74913117 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 5 (Y5H)
Ref Sequence ENSEMBL: ENSMUSP00000120012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045807] [ENSMUST00000065211] [ENSMUST00000108447] [ENSMUST00000108448] [ENSMUST00000121738] [ENSMUST00000123855] [ENSMUST00000128230] [ENSMUST00000128556] [ENSMUST00000138612] [ENSMUST00000153316]
Predicted Effect probably benign
Transcript: ENSMUST00000045807
SMART Domains Protein: ENSMUSP00000039027
Gene: ENSMUSG00000038335

DomainStartEndE-ValueType
low complexity region 16 25 N/A INTRINSIC
AARP2CN 228 309 1.14e-28 SMART
low complexity region 373 383 N/A INTRINSIC
low complexity region 407 421 N/A INTRINSIC
low complexity region 429 452 N/A INTRINSIC
coiled coil region 453 478 N/A INTRINSIC
DUF663 486 772 2.6e-179 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000065211
AA Change: Y5H

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000067552
Gene: ENSMUSG00000001323
AA Change: Y5H

DomainStartEndE-ValueType
Pfam:PALP 19 314 3.3e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108447
AA Change: Y5H

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000104086
Gene: ENSMUSG00000001323
AA Change: Y5H

DomainStartEndE-ValueType
Pfam:PALP 19 179 1.8e-41 PFAM
Pfam:PALP 173 289 4.2e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108448
AA Change: Y5H

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000104087
Gene: ENSMUSG00000001323
AA Change: Y5H

DomainStartEndE-ValueType
Pfam:PALP 19 314 2.1e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121738
AA Change: Y5H

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000113372
Gene: ENSMUSG00000001323
AA Change: Y5H

DomainStartEndE-ValueType
Pfam:PALP 19 314 3.3e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123855
AA Change: Y5H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118485
Gene: ENSMUSG00000001323
AA Change: Y5H

DomainStartEndE-ValueType
Pfam:PALP 19 166 1.5e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127499
Predicted Effect probably benign
Transcript: ENSMUST00000128230
SMART Domains Protein: ENSMUSP00000121384
Gene: ENSMUSG00000038335

DomainStartEndE-ValueType
low complexity region 16 25 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128556
AA Change: Y5H

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000120012
Gene: ENSMUSG00000001323
AA Change: Y5H

DomainStartEndE-ValueType
Pfam:PALP 19 182 2.6e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130910
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135587
Predicted Effect probably benign
Transcript: ENSMUST00000138612
AA Change: Y5H

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000119256
Gene: ENSMUSG00000001323
AA Change: Y5H

DomainStartEndE-ValueType
Pfam:PALP 19 112 4.1e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147817
Predicted Effect probably benign
Transcript: ENSMUST00000153316
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit decreased D-serine levels in the cerebral cortex and hippocampus, and neuronal damage associated with NMDA excitotoxicity and beta-amyloid peptide 1-42 exposure is decreased. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik G T 4: 155,734,191 probably benign Het
Acvrl1 A T 15: 101,135,922 I162F possibly damaging Het
Adprhl1 A G 8: 13,246,170 probably benign Het
Anapc7 G A 5: 122,429,606 probably null Het
Ankrd13a T C 5: 114,792,235 L227P probably damaging Het
Anxa5 T C 3: 36,450,679 I245V probably benign Het
Arf1 A T 11: 59,212,837 V123E possibly damaging Het
Catsperg1 G A 7: 29,200,243 R338C probably damaging Het
Cc2d1a A C 8: 84,133,525 L855R probably damaging Het
Cdh18 G A 15: 23,366,867 A220T probably damaging Het
Cep350 T C 1: 155,953,549 H203R probably benign Het
Cep78 G T 19: 15,974,442 S333* probably null Het
Chrna2 T A 14: 66,150,946 probably benign Het
Dact1 T C 12: 71,317,483 V346A probably damaging Het
Dcn A G 10: 97,483,378 I6V probably benign Het
Dlg3 A G X: 100,809,887 Y600C probably damaging Het
Dmd A G X: 83,806,208 E1084G probably damaging Het
Epb41 A C 4: 131,928,495 D825E probably damaging Het
Galc T A 12: 98,222,593 probably benign Het
Hmcn1 T A 1: 150,772,510 D675V probably damaging Het
Igkv2-137 A G 6: 67,556,108 D85G probably benign Het
Kxd1 A G 8: 70,508,486 I78T probably damaging Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Lama2 A T 10: 27,422,653 I149N probably damaging Het
Mbnl2 G T 14: 120,379,157 C61F probably damaging Het
Mcts1 T C X: 38,601,982 I22T possibly damaging Het
Olfr594 T G 7: 103,220,641 F308V probably benign Het
Olfr725 T C 14: 50,034,567 T279A probably damaging Het
Pde12 T A 14: 26,668,459 E365V probably benign Het
Prl8a2 A G 13: 27,353,955 K204R probably benign Het
Rnf25 A T 1: 74,599,058 probably benign Het
Rragb A G X: 153,140,497 D5G unknown Het
Rsrc2 T A 5: 123,740,727 K56* probably null Het
Scn5a T C 9: 119,521,231 Q859R probably damaging Het
Sept4 G A 11: 87,589,703 V388M probably damaging Het
Slc29a2 C T 19: 5,024,503 probably benign Het
Slc30a5 G A 13: 100,806,703 T549I probably damaging Het
Slc7a2 A G 8: 40,912,517 T462A probably benign Het
Spsb2 A G 6: 124,809,487 E61G probably damaging Het
Suclg2 T C 6: 95,569,592 D301G probably damaging Het
Syt14 A G 1: 192,986,834 V37A probably benign Het
Syt9 A G 7: 107,436,405 N210D probably benign Het
Tenm3 T C 8: 48,235,523 D2343G probably damaging Het
Tma7 A G 9: 109,078,382 probably benign Het
Tor3a T C 1: 156,669,450 D175G probably damaging Het
Tpo G T 12: 30,094,965 A595D possibly damaging Het
Tpst2 T C 5: 112,308,225 V210A probably damaging Het
Uchl1 A T 5: 66,682,481 E122V probably benign Het
Vmn1r210 A T 13: 22,827,235 F294I probably benign Het
Other mutations in Srr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02949:Srr APN 11 74908737 missense probably benign 0.00
PIT4382001:Srr UTSW 11 74910308 missense probably benign 0.42
R0718:Srr UTSW 11 74911065 missense possibly damaging 0.74
R1588:Srr UTSW 11 74908803 missense possibly damaging 0.93
R1960:Srr UTSW 11 74908716 missense probably damaging 1.00
R1986:Srr UTSW 11 74908719 missense probably damaging 1.00
R4043:Srr UTSW 11 74909121 missense probably benign 0.08
R4112:Srr UTSW 11 74913072 missense probably benign
R4877:Srr UTSW 11 74907780 unclassified probably benign
R5856:Srr UTSW 11 74913012 missense possibly damaging 0.92
R5959:Srr UTSW 11 74911065 missense possibly damaging 0.74
R6362:Srr UTSW 11 74910202 missense probably damaging 1.00
R7163:Srr UTSW 11 74913002 missense probably damaging 0.96
R7706:Srr UTSW 11 74913135 critical splice acceptor site probably null
R7817:Srr UTSW 11 74908698 missense possibly damaging 0.94
Posted On2016-08-02