Incidental Mutation 'R1505:Snrpf'
ID 169125
Institutional Source Beutler Lab
Gene Symbol Snrpf
Ensembl Gene ENSMUSG00000020018
Gene Name small nuclear ribonucleoprotein polypeptide F
Synonyms 2010013O18Rik, SMF
MMRRC Submission 040868-MU
Accession Numbers
Essential gene? Not available question?
Stock # R1505 (G1)
Quality Score 119
Status Not validated
Chromosome 10
Chromosomal Location 93418891-93425520 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93419381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 69 (V69A)
Ref Sequence ENSEMBL: ENSMUSP00000020203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020203] [ENSMUST00000092215] [ENSMUST00000132214]
AlphaFold P62307
Predicted Effect possibly damaging
Transcript: ENSMUST00000020203
AA Change: V69A

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020203
Gene: ENSMUSG00000020018
AA Change: V69A

DomainStartEndE-ValueType
Sm 9 74 6.54e-25 SMART
low complexity region 76 86 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000092215
SMART Domains Protein: ENSMUSP00000089860
Gene: ENSMUSG00000036168

DomainStartEndE-ValueType
Pfam:DUF4200 112 230 4.4e-28 PFAM
low complexity region 280 289 N/A INTRINSIC
low complexity region 317 333 N/A INTRINSIC
coiled coil region 388 412 N/A INTRINSIC
coiled coil region 479 522 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132214
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.5%
  • 20x: 86.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T A 5: 105,099,431 (GRCm39) R444W probably damaging Het
Adnp A G 2: 168,025,661 (GRCm39) S545P possibly damaging Het
Ankrd17 T C 5: 90,447,885 (GRCm39) R219G possibly damaging Het
Ap2m1 C G 16: 20,361,447 (GRCm39) P372A probably benign Het
Calml3 T A 13: 3,854,071 (GRCm39) T45S probably benign Het
Casp8 A G 1: 58,868,081 (GRCm39) E174G probably damaging Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Cfap221 A C 1: 119,881,358 (GRCm39) L368R probably benign Het
Chd9 A G 8: 91,733,123 (GRCm39) probably null Het
Cnot1 A T 8: 96,455,295 (GRCm39) I2035N probably damaging Het
Cyp2c67 T C 19: 39,637,408 (GRCm39) R23G probably benign Het
Dnah10 A C 5: 124,831,303 (GRCm39) H777P possibly damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam162b G A 10: 51,463,298 (GRCm39) A123V probably damaging Het
Golgb1 T A 16: 36,740,005 (GRCm39) N2781K possibly damaging Het
Hs2st1 C A 3: 144,140,322 (GRCm39) R333L probably benign Het
Kmt2e A G 5: 23,705,533 (GRCm39) H1319R probably null Het
Necab1 A T 4: 14,960,047 (GRCm39) M300K probably benign Het
Ntrk3 T A 7: 78,110,272 (GRCm39) I321F probably damaging Het
Or5p60 A G 7: 107,724,200 (GRCm39) V90A probably benign Het
Or7e169 A T 9: 19,757,084 (GRCm39) M277K probably benign Het
Or8g52 A G 9: 39,630,774 (GRCm39) N84D probably damaging Het
Or8k41 A T 2: 86,313,557 (GRCm39) H176Q possibly damaging Het
Osbpl6 T C 2: 76,409,586 (GRCm39) S483P probably damaging Het
Pcdhb17 A C 18: 37,619,875 (GRCm39) N555T probably damaging Het
Pdgfc G A 3: 81,116,543 (GRCm39) R299H possibly damaging Het
Ptpn7 A T 1: 135,062,302 (GRCm39) T83S probably benign Het
Rapgef5 T C 12: 117,652,354 (GRCm39) V79A possibly damaging Het
Rexo5 T A 7: 119,398,826 (GRCm39) C54* probably null Het
Riok3 A G 18: 12,285,935 (GRCm39) K418R probably benign Het
Robo4 G A 9: 37,314,523 (GRCm39) G170D probably damaging Het
Rpl8 A G 15: 76,788,610 (GRCm39) D33G possibly damaging Het
Rspo2 T C 15: 42,939,239 (GRCm39) T184A probably damaging Het
Ryr2 A T 13: 11,569,478 (GRCm39) M4942K possibly damaging Het
Sel1l T C 12: 91,780,736 (GRCm39) Y585C probably damaging Het
Slc25a11 G T 11: 70,537,650 (GRCm39) D13E probably benign Het
Slc5a6 G T 5: 31,194,455 (GRCm39) H584N probably benign Het
Sorbs3 T A 14: 70,428,251 (GRCm39) K475* probably null Het
Speg G A 1: 75,352,186 (GRCm39) V35I probably benign Het
Tlk2 T G 11: 105,151,121 (GRCm39) V468G probably damaging Het
Trim6 T A 7: 103,881,771 (GRCm39) W341R probably damaging Het
Ttll5 T A 12: 85,926,184 (GRCm39) I326N probably damaging Het
Vipas39 T C 12: 87,292,934 (GRCm39) Y318C probably damaging Het
Vmn1r185 T A 7: 26,310,903 (GRCm39) I201F probably damaging Het
Vwce A G 19: 10,641,608 (GRCm39) H778R probably benign Het
Zbtb14 C G 17: 69,694,759 (GRCm39) I152M probably benign Het
Other mutations in Snrpf
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5133:Snrpf UTSW 10 93,423,985 (GRCm39) missense probably benign 0.16
R9739:Snrpf UTSW 10 93,419,390 (GRCm39) missense probably benign 0.26
Z1176:Snrpf UTSW 10 93,425,478 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- CAGTTAAACCAGCGGTGGGATTACA -3'
(R):5'- ATCAGTGTCCTGGGTTACAGGGATT -3'

Sequencing Primer
(F):5'- TCCCTTGAATAAAACTGAGAGGC -3'
(R):5'- GCTAAGGATTTCTGTTGTACTCAC -3'
Posted On 2014-04-13