Incidental Mutation 'IGL02735:Sprtn'
ID 305613
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sprtn
Ensembl Gene ENSMUSG00000031986
Gene Name SprT-like N-terminal domain
Synonyms Gm505, LOC244666
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # IGL02735
Quality Score
Status
Chromosome 8
Chromosomal Location 125624625-125632900 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 125630126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 473 (V473E)
Ref Sequence ENSEMBL: ENSMUSP00000034467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034467]
AlphaFold G3X912
Predicted Effect probably benign
Transcript: ENSMUST00000034467
AA Change: V473E

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000034467
Gene: ENSMUSG00000031986
AA Change: V473E

DomainStartEndE-ValueType
SprT 44 213 4.39e-72 SMART
low complexity region 383 405 N/A INTRINSIC
low complexity region 442 462 N/A INTRINSIC
Blast:ZnF_Rad18 463 485 8e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212724
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213052
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may play a role in DNA repair during replication of damaged DNA. This protein recruits valosin containing protein (p97) to stalled DNA replication forks where it may prevent excessive translesional DNA synthesis and limit the number of DNA-damage induced mutations. It may also be involved in replication-related G2/M-checkpoint regulation. Deficiency of a similar protein in mouse causes chromosomal instability and progeroid phenotypes. Mutations in this gene have been associated with Ruijs-Aalfs syndrome (RJALS). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for a knock-out allele die prior to implantation. Mice homozygous for a hypomorphic allele exhibit symptoms of progeria (lordokyphosis, cataracts, cachexia, reduced total fat mass and decreased exercise performance). [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
Acss1 A T 2: 150,480,387 (GRCm39) V228E probably damaging Het
Ampd1 T A 3: 102,992,693 (GRCm39) M145K probably damaging Het
Ankhd1 G A 18: 36,781,599 (GRCm39) S2217N probably benign Het
Asph T A 4: 9,598,759 (GRCm39) D211V probably damaging Het
Cd55b A T 1: 130,316,413 (GRCm39) W379R probably damaging Het
Derl3 A G 10: 75,730,950 (GRCm39) T201A probably damaging Het
Efcab6 A G 15: 83,783,898 (GRCm39) L1008P probably damaging Het
Eif4g3 A G 4: 137,853,522 (GRCm39) I363V probably benign Het
Heatr5a A G 12: 51,961,804 (GRCm39) F1058L probably damaging Het
Hmcn1 A T 1: 150,522,583 (GRCm39) M3439K probably benign Het
Ift140 C A 17: 25,253,009 (GRCm39) probably benign Het
Itgad A G 7: 127,792,888 (GRCm39) Y832C probably damaging Het
Itgb2 T A 10: 77,385,833 (GRCm39) D265E possibly damaging Het
Kif19a A T 11: 114,676,393 (GRCm39) E449V probably damaging Het
Krt40 T C 11: 99,429,461 (GRCm39) E291G probably damaging Het
Lama2 T C 10: 26,980,124 (GRCm39) N1897S probably damaging Het
Lepr A G 4: 101,639,835 (GRCm39) Y767C probably damaging Het
Lrrtm4 A G 6: 80,786,031 (GRCm39) H546R probably benign Het
Marchf6 A G 15: 31,486,266 (GRCm39) S362P probably benign Het
Med12l A G 3: 59,001,067 (GRCm39) Y734C probably damaging Het
Mrps18a C T 17: 46,433,725 (GRCm39) R74C probably damaging Het
Mvk A G 5: 114,588,880 (GRCm39) E174G probably benign Het
Naip2 A G 13: 100,296,722 (GRCm39) S1105P probably damaging Het
Nrxn3 A G 12: 89,221,624 (GRCm39) M468V probably benign Het
Obscn T C 11: 58,984,175 (GRCm39) E1760G probably damaging Het
Pcsk5 C A 19: 17,652,832 (GRCm39) G285W probably damaging Het
Pgpep1l A G 7: 67,886,721 (GRCm39) I196T probably benign Het
Phf14 T C 6: 11,987,611 (GRCm39) M630T probably benign Het
Plod2 T C 9: 92,477,442 (GRCm39) probably benign Het
Poldip2 G A 11: 78,403,162 (GRCm39) A9T probably benign Het
Pou2f1 A G 1: 165,703,396 (GRCm39) S718P probably damaging Het
Pramel34 G A 5: 93,786,503 (GRCm39) P89S possibly damaging Het
Ptpre A T 7: 135,269,296 (GRCm39) Y246F probably damaging Het
Pudp T C 18: 50,701,403 (GRCm39) H110R probably benign Het
Scaf4 C T 16: 90,042,403 (GRCm39) G646E unknown Het
Sec16a T A 2: 26,318,149 (GRCm39) probably benign Het
Serpina5 A G 12: 104,070,116 (GRCm39) T338A probably benign Het
Shisa5 T G 9: 108,885,080 (GRCm39) F118V probably damaging Het
Slc6a21 G A 7: 44,936,061 (GRCm39) probably benign Het
Styxl1 A G 5: 135,787,996 (GRCm39) I165T probably damaging Het
Tal2 T A 4: 53,785,906 (GRCm39) I29N probably damaging Het
Tas2r134 T C 2: 51,517,839 (GRCm39) I106T probably damaging Het
Tmem259 G A 10: 79,814,973 (GRCm39) T217I probably damaging Het
Trpc6 T C 9: 8,655,339 (GRCm39) I723T probably damaging Het
Vmn1r211 A T 13: 23,036,418 (GRCm39) V83D probably damaging Het
Vmn2r103 G T 17: 20,032,510 (GRCm39) M761I probably benign Het
Ybey A T 10: 76,304,160 (GRCm39) I14N probably damaging Het
Other mutations in Sprtn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Sprtn APN 8 125,627,037 (GRCm39) missense probably damaging 1.00
IGL02740:Sprtn APN 8 125,625,042 (GRCm39) missense probably damaging 1.00
IGL03234:Sprtn APN 8 125,629,888 (GRCm39) missense possibly damaging 0.79
R0600:Sprtn UTSW 8 125,626,957 (GRCm39) missense probably damaging 1.00
R1718:Sprtn UTSW 8 125,625,096 (GRCm39) missense probably damaging 1.00
R1719:Sprtn UTSW 8 125,628,372 (GRCm39) missense probably damaging 1.00
R1808:Sprtn UTSW 8 125,629,770 (GRCm39) missense probably benign 0.03
R6390:Sprtn UTSW 8 125,629,958 (GRCm39) missense probably benign 0.01
R6474:Sprtn UTSW 8 125,625,873 (GRCm39) nonsense probably null
R7163:Sprtn UTSW 8 125,625,044 (GRCm39) missense probably damaging 1.00
R7239:Sprtn UTSW 8 125,626,983 (GRCm39) missense probably damaging 0.99
R7779:Sprtn UTSW 8 125,624,982 (GRCm39) missense possibly damaging 0.94
R8321:Sprtn UTSW 8 125,629,994 (GRCm39) missense possibly damaging 0.51
R8493:Sprtn UTSW 8 125,629,933 (GRCm39) missense probably benign 0.01
R9731:Sprtn UTSW 8 125,629,704 (GRCm39) nonsense probably null
Z1177:Sprtn UTSW 8 125,625,089 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16