Incidental Mutation 'R5440:Gm17669'
ID428609
Institutional Source Beutler Lab
Gene Symbol Gm17669
Ensembl Gene ENSMUSG00000091695
Gene Namepredicted gene, 17669
Synonyms
MMRRC Submission 043005-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.856) question?
Stock #R5440 (G1)
Quality Score194
Status Not validated
Chromosome18
Chromosomal Location67562387-67562851 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 67562456 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 24 (P24S)
Ref Sequence ENSEMBL: ENSMUSP00000128232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115050] [ENSMUST00000163749]
Predicted Effect probably benign
Transcript: ENSMUST00000115050
SMART Domains Protein: ENSMUSP00000110702
Gene: ENSMUSG00000024533

DomainStartEndE-ValueType
PDB:4EFH|B 106 162 9e-6 PDB
low complexity region 219 246 N/A INTRINSIC
low complexity region 269 280 N/A INTRINSIC
SCOP:d1zbdb_ 317 390 4e-7 SMART
low complexity region 468 478 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000163749
AA Change: P24S

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000128232
Gene: ENSMUSG00000091695
AA Change: P24S

DomainStartEndE-ValueType
Pfam:Ribosomal_L29e 3 42 1.2e-26 PFAM
low complexity region 126 154 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc G T 18: 34,221,160 probably benign Het
Apol11b T A 15: 77,635,593 K96* probably null Het
Arhgap35 C T 7: 16,562,924 G739S probably damaging Het
Atp6v0a4 A C 6: 38,092,817 F47V probably damaging Het
Bcl9 G A 3: 97,210,565 P271L probably benign Het
Cd109 T C 9: 78,680,164 probably null Het
Col12a1 T A 9: 79,614,363 I2771F probably benign Het
Col6a1 A G 10: 76,723,454 V116A probably damaging Het
Cpsf2 C G 12: 101,996,879 L401V probably benign Het
Cwf19l2 G A 9: 3,475,549 E829K probably damaging Het
D7Ertd443e G A 7: 134,349,275 T223I probably damaging Het
Dtx4 G A 19: 12,492,317 R149C probably damaging Het
Fam186b C T 15: 99,273,853 A838T possibly damaging Het
Fzd4 G T 7: 89,408,118 E458* probably null Het
Grin2b C T 6: 135,736,306 G859D probably damaging Het
Gucy2e T C 11: 69,223,646 Y1019C probably damaging Het
Gzme T A 14: 56,118,453 N134I possibly damaging Het
Havcr1 A T 11: 46,752,370 Y39F probably damaging Het
Hint3 A T 10: 30,618,351 M1K probably null Het
Hspa4l A G 3: 40,781,576 K543R probably damaging Het
Ifna9 A G 4: 88,591,811 probably null Het
Itgb4 C T 11: 115,984,157 R447W probably benign Het
Lipo2 A G 19: 33,720,858 I373T probably benign Het
Myo5c T A 9: 75,258,125 I405N possibly damaging Het
Olfr517 T C 7: 108,868,626 H176R probably damaging Het
P2rx1 A G 11: 73,008,503 M108V probably benign Het
Pcsk2 T A 2: 143,546,543 V18E probably benign Het
Pigr A T 1: 130,849,622 probably null Het
Pkp1 A T 1: 135,882,492 C447S probably benign Het
Prom1 T A 5: 44,058,646 I96F probably benign Het
Prpf4b T C 13: 34,884,093 probably benign Het
Ropn1 C A 16: 34,671,172 D102E probably benign Het
Slc35e2 C T 4: 155,610,026 P10L probably benign Het
Sphk1 T G 11: 116,534,888 V17G possibly damaging Het
Syngr1 A G 15: 80,098,018 N2S probably benign Het
Syt9 T G 7: 107,502,123 S359A possibly damaging Het
Terb1 T C 8: 104,488,499 I282V probably damaging Het
Ttn T A 2: 76,754,824 I22042F probably damaging Het
Ttn A T 2: 76,909,256 D3646E probably benign Het
Ube2d1 A G 10: 71,255,852 W141R probably damaging Het
Vmn2r41 T A 7: 8,138,363 I701F probably damaging Het
Zfp770 T C 2: 114,196,115 D491G probably benign Het
Other mutations in Gm17669
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4260001:Gm17669 UTSW 18 67562438 missense probably damaging 1.00
PIT4458001:Gm17669 UTSW 18 67562749 frame shift probably null
PIT4576001:Gm17669 UTSW 18 67562749 frame shift probably null
R5198:Gm17669 UTSW 18 67562556 missense probably benign 0.22
R5214:Gm17669 UTSW 18 67562409 missense possibly damaging 0.95
R7196:Gm17669 UTSW 18 67562502 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGAATCATTAAGCCCTTATTGCAG -3'
(R):5'- GCTTCGAATCCGCTTCCCAAG -3'

Sequencing Primer
(F):5'- GTCAACTTGCTACAAGCTAGAGTCG -3'
(R):5'- GCCAGCCGCTTGAGTTTG -3'
Posted On2016-09-01