Incidental Mutation 'R9319:Snu13'
ID 706054
Institutional Source Beutler Lab
Gene Symbol Snu13
Ensembl Gene ENSMUSG00000063480
Gene Name SNU13 homolog, small nuclear ribonucleoprotein (U4/U6.U5)
Synonyms FA-1, Fta1, Ssfa1, Fertilization antigen-1, Nhp2l1
MMRRC Submission
Accession Numbers
Essential gene? Not available question?
Stock # R9319 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 81925546-81931799 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81928218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 2 (T2A)
Ref Sequence ENSEMBL: ENSMUSP00000091840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069530] [ENSMUST00000080622] [ENSMUST00000100399] [ENSMUST00000230729]
AlphaFold Q9D0T1
Predicted Effect probably benign
Transcript: ENSMUST00000069530
SMART Domains Protein: ENSMUSP00000068559
Gene: ENSMUSG00000022471

DomainStartEndE-ValueType
low complexity region 11 20 N/A INTRINSIC
VWA 32 246 1.79e0 SMART
Ku78 306 452 2.91e-56 SMART
Pfam:Ku_C 467 557 5e-34 PFAM
SAP 571 605 2.38e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000080622
AA Change: T2A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000091840
Gene: ENSMUSG00000063480
AA Change: T2A

DomainStartEndE-ValueType
Pfam:RNase_P_pop3 4 128 2.6e-8 PFAM
Pfam:Ribosomal_L7Ae 20 114 9.7e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100399
SMART Domains Protein: ENSMUSP00000097968
Gene: ENSMUSG00000022471

DomainStartEndE-ValueType
low complexity region 11 20 N/A INTRINSIC
VWA 32 246 1.79e0 SMART
Ku78 306 452 2.91e-56 SMART
Pfam:Ku_C 470 555 3.1e-31 PFAM
SAP 571 605 2.38e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000230729
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Originally named because of its sequence similarity to the Saccharomyces cerevisiae NHP2 (non-histone protein 2), this protein appears to be a highly conserved nuclear protein that is a component of the [U4/U6.U5] tri-snRNP. It binds to the 5' stem-loop of U4 snRNA. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,922,446 (GRCm39) D811G probably damaging Het
Akap13 A G 7: 75,258,836 (GRCm39) T487A probably benign Het
Ankrd6 C T 4: 32,806,324 (GRCm39) S643N probably benign Het
Apcdd1 C T 18: 63,055,731 (GRCm39) probably benign Het
Camk2b G T 11: 5,927,814 (GRCm39) P489Q probably benign Het
Cd22 T A 7: 30,569,329 (GRCm39) N596Y probably damaging Het
Chst13 G A 6: 90,286,506 (GRCm39) P152L probably damaging Het
Cobl A T 11: 12,203,648 (GRCm39) V1018E probably benign Het
Cttn T C 7: 144,017,100 (GRCm39) E34G probably damaging Het
Dhx15 G A 5: 52,342,193 (GRCm39) R42* probably null Het
Dlgap4 G T 2: 156,546,514 (GRCm39) R394L possibly damaging Het
Dlst G T 12: 85,170,585 (GRCm39) R238L probably damaging Het
Dnah7c A G 1: 46,521,168 (GRCm39) E232G possibly damaging Het
Dsg1b C T 18: 20,531,004 (GRCm39) Q452* probably null Het
Elovl3 A G 19: 46,122,507 (GRCm39) T102A possibly damaging Het
Epas1 A G 17: 87,104,545 (GRCm39) S10G possibly damaging Het
Fads2b G A 2: 85,320,757 (GRCm39) R349C probably damaging Het
Fanca T C 8: 124,018,190 (GRCm39) I613V probably benign Het
Fat1 T A 8: 45,406,060 (GRCm39) V937D probably damaging Het
Glipr1l1 G T 10: 111,898,122 (GRCm39) A76S probably damaging Het
Ino80 T C 2: 119,205,005 (GRCm39) D1507G probably benign Het
Ipo13 T C 4: 117,769,585 (GRCm39) D69G probably benign Het
Kif2c T C 4: 117,035,445 (GRCm39) probably null Het
Lrrc61 C A 6: 48,545,228 (GRCm39) T17K probably damaging Het
Ltk C A 2: 119,590,096 (GRCm39) E43D probably benign Het
Mcm3ap A G 10: 76,318,638 (GRCm39) T720A probably damaging Het
Mcoln2 T A 3: 145,875,691 (GRCm39) V81D probably damaging Het
Mturn T A 6: 54,658,780 (GRCm39) V9D probably benign Het
Nrg1 T C 8: 32,323,204 (GRCm39) D249G probably benign Het
Ntng2 T C 2: 29,091,121 (GRCm39) probably benign Het
Odad3 T C 9: 21,906,203 (GRCm39) D245G probably damaging Het
Pax3 T A 1: 78,080,079 (GRCm39) M436L probably benign Het
Pias4 G A 10: 80,991,750 (GRCm39) P53S unknown Het
Pkhd1l1 C T 15: 44,392,974 (GRCm39) R1770C possibly damaging Het
Plk1 C A 7: 121,768,122 (GRCm39) D447E probably damaging Het
Rsph10b A C 5: 143,903,337 (GRCm39) M611L probably benign Het
Scart1 C T 7: 139,807,940 (GRCm39) P704S possibly damaging Het
Snrnp40 T C 4: 130,256,545 (GRCm39) L90P possibly damaging Het
Sptlc3 C T 2: 139,478,730 (GRCm39) A563V possibly damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Tmx3 A G 18: 90,558,068 (GRCm39) I373M probably benign Het
Tpbg C T 9: 85,725,991 (GRCm39) probably benign Het
Troap T C 15: 98,975,444 (GRCm39) I176T probably benign Het
Trpm2 G A 10: 77,778,776 (GRCm39) Q397* probably null Het
Trpm2 A T 10: 77,785,032 (GRCm39) V196E probably damaging Het
Vac14 T A 8: 111,361,018 (GRCm39) I196N probably damaging Het
Vmn2r71 C T 7: 85,273,694 (GRCm39) P836L probably damaging Het
Other mutations in Snu13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Snu13 APN 15 81,926,516 (GRCm39) missense probably benign 0.37
R2517:Snu13 UTSW 15 81,928,182 (GRCm39) missense probably benign 0.41
Predicted Primers PCR Primer
(F):5'- TCAGAGACCGCTGAAAACG -3'
(R):5'- CATGATTGCTGTGCCCTTGG -3'

Sequencing Primer
(F):5'- GAGACCGCTGAAAACGAACCTTC -3'
(R):5'- GGAATTGACTCTGTAGACCCCATG -3'
Posted On 2022-03-25