Incidental Mutation 'R8321:Sprtn'
ID 641967
Institutional Source Beutler Lab
Gene Symbol Sprtn
Ensembl Gene ENSMUSG00000031986
Gene Name SprT-like N-terminal domain
Synonyms Gm505, LOC244666
MMRRC Submission 067723-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # R8321 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 125624625-125632900 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 125629994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 429 (D429V)
Ref Sequence ENSEMBL: ENSMUSP00000034467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034467]
AlphaFold G3X912
Predicted Effect possibly damaging
Transcript: ENSMUST00000034467
AA Change: D429V

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000034467
Gene: ENSMUSG00000031986
AA Change: D429V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap44 A G 11: 64,899,053 (GRCm39) V708A probably benign Het
Atg9a G A 1: 75,162,342 (GRCm39) Q523* probably null Het
Bank1 T A 3: 135,940,395 (GRCm39) E329V possibly damaging Het
Ccdc162 C A 10: 41,510,029 (GRCm39) A859S probably damaging Het
Cdh11 T C 8: 103,361,416 (GRCm39) R641G probably damaging Het
Cfap58 A G 19: 47,946,586 (GRCm39) E373G probably damaging Het
Chd8 T C 14: 52,470,024 (GRCm39) T529A probably benign Het
Chtf18 G A 17: 25,939,865 (GRCm39) T747I probably benign Het
Cyp2j6 A G 4: 96,441,684 (GRCm39) L2P probably benign Het
Cyp4f18 G A 8: 72,742,427 (GRCm39) P518S possibly damaging Het
Dmrtc1a G A X: 101,952,221 (GRCm39) R8W probably benign Het
Dpyd T C 3: 118,575,573 (GRCm39) V137A possibly damaging Het
Epha6 A G 16: 59,736,317 (GRCm39) V739A probably damaging Het
Ern2 C T 7: 121,772,431 (GRCm39) A676T probably damaging Het
Fam20c A T 5: 138,743,686 (GRCm39) I241F possibly damaging Het
Fastkd2 A G 1: 63,787,138 (GRCm39) H524R probably benign Het
Foxq1 T C 13: 31,743,251 (GRCm39) Y118H probably damaging Het
Gfm1 C T 3: 67,337,594 (GRCm39) A8V probably benign Het
Gfm2 C T 13: 97,299,500 (GRCm39) T407M possibly damaging Het
Gldc G A 19: 30,120,807 (GRCm39) Q375* probably null Het
Gm5114 A G 7: 39,060,273 (GRCm39) I192T possibly damaging Het
Gnb1 A T 4: 155,639,482 (GRCm39) N237I possibly damaging Het
Herc2 C T 7: 55,879,096 (GRCm39) P4662S possibly damaging Het
Herc3 C T 6: 58,820,754 (GRCm39) S46F possibly damaging Het
Hgsnat C T 8: 26,461,179 (GRCm39) G153E possibly damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Igkv2-137 GA GAA 6: 67,533,154 (GRCm39) probably null Het
Invs T A 4: 48,283,267 (GRCm39) D6E probably benign Het
Jakmip3 T C 7: 138,628,613 (GRCm39) V463A probably benign Het
Jarid2 T A 13: 45,001,862 (GRCm39) S96R probably damaging Het
Krtap6-1 A C 16: 88,828,624 (GRCm39) N7H unknown Het
Matn4 A T 2: 164,235,207 (GRCm39) V455D probably damaging Het
Nbea G A 3: 56,090,518 (GRCm39) P47S possibly damaging Het
Oit3 T C 10: 59,263,982 (GRCm39) H384R probably benign Het
Or1e27-ps1 G A 11: 73,556,362 (GRCm39) R309H unknown Het
Or8b42 A T 9: 38,341,850 (GRCm39) I91F probably damaging Het
Pabpc4l T A 3: 46,400,729 (GRCm39) D305V probably damaging Het
Papln G A 12: 83,821,715 (GRCm39) W314* probably null Het
Pask G A 1: 93,248,377 (GRCm39) R975C possibly damaging Het
Pate13 G T 9: 35,820,749 (GRCm39) C111F probably damaging Het
Plce1 A G 19: 38,640,380 (GRCm39) N542S probably benign Het
Rasal1 C T 5: 120,804,420 (GRCm39) R431C probably benign Het
Rnf17 TG T 14: 56,661,999 (GRCm39) 132 probably null Het
Sez6l2 C A 7: 126,557,588 (GRCm39) T334N probably damaging Het
Sh3d19 A G 3: 86,001,071 (GRCm39) T256A probably damaging Het
Slit2 A T 5: 48,387,609 (GRCm39) N545Y probably damaging Het
Srcap T C 7: 127,140,068 (GRCm39) V1389A probably damaging Het
Tecta C A 9: 42,284,349 (GRCm39) C912F probably damaging Het
Tns1 T A 1: 74,024,939 (GRCm39) probably null Het
Tprg1l A G 4: 154,244,860 (GRCm39) V76A probably benign Het
Trav12-2 G T 14: 53,853,840 (GRCm39) probably benign Het
Trio T C 15: 27,881,412 (GRCm39) D612G possibly damaging Het
Usp6nl A T 2: 6,395,900 (GRCm39) Q36H possibly damaging Het
Vps9d1 A T 8: 123,975,544 (GRCm39) M167K possibly damaging Het
Zfhx4 T A 3: 5,466,187 (GRCm39) L2140Q probably damaging Het
Zfp512b A G 2: 181,228,931 (GRCm39) V678A possibly damaging Het
Zfp800 A G 6: 28,242,992 (GRCm39) S658P probably damaging Het
Zscan22 A G 7: 12,637,625 (GRCm39) S6G probably benign Het
Other mutations in Sprtn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Sprtn APN 8 125,627,037 (GRCm39) missense probably damaging 1.00
IGL02735:Sprtn APN 8 125,630,126 (GRCm39) missense probably benign 0.03
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
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
Predicted Primers PCR Primer
(F):5'- TCCCCAGTAAAGAACGGGAC -3'
(R):5'- TTGTTACCTTCCAGGCATCGG -3'

Sequencing Primer
(F):5'- TCTCAGAGGAAGGTCCCAC -3'
(R):5'- GTCCAAGTGCTCGTTAATCTGTGAC -3'
Posted On 2020-07-28