Incidental Mutation 'PIT4498001:Gm3182'
ID 556074
Institutional Source Beutler Lab
Gene Symbol Gm3182
Ensembl Gene ENSMUSG00000091148
Gene Name predicted gene 3182
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # PIT4498001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 17979916-17987965 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4481832 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 9 (C9S)
Ref Sequence ENSEMBL: ENSMUSP00000126316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164603] [ENSMUST00000166848] [ENSMUST00000167902] [ENSMUST00000169364]
AlphaFold K7N6T8
Predicted Effect probably benign
Transcript: ENSMUST00000164603
SMART Domains Protein: ENSMUSP00000125850
Gene: ENSMUSG00000079386

DomainStartEndE-ValueType
Pfam:Takusan 1 74 2e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166848
SMART Domains Protein: ENSMUSP00000127993
Gene: ENSMUSG00000079386

DomainStartEndE-ValueType
Pfam:Takusan 1 74 1.4e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167902
AA Change: C9S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126316
Gene: ENSMUSG00000091148
AA Change: C9S

DomainStartEndE-ValueType
Pfam:Takusan 46 129 9.8e-32 PFAM
transmembrane domain 245 262 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000169364
AA Change: C9S

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126667
Gene: ENSMUSG00000091148
AA Change: C9S

DomainStartEndE-ValueType
Pfam:Takusan 46 129 5.7e-32 PFAM
Coding Region Coverage
  • 1x: 93.2%
  • 3x: 91.0%
  • 10x: 86.1%
  • 20x: 75.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh18a1 T C 19: 40,562,800 (GRCm39) N191S probably benign Het
Cacnb2 T A 2: 14,879,630 (GRCm39) L84* probably null Het
Cdhr2 C T 13: 54,866,052 (GRCm39) T284M possibly damaging Het
Defb45 T C 2: 152,438,394 (GRCm39) probably benign Het
Dkk3 C T 7: 111,718,679 (GRCm39) V236M probably benign Het
Dscc1 A T 15: 54,945,711 (GRCm39) V328D probably benign Het
Epha3 T C 16: 63,372,889 (GRCm39) Y938C probably damaging Het
Erc1 A T 6: 119,756,452 (GRCm39) F435I possibly damaging Het
Fbxl5 T C 5: 43,908,323 (GRCm39) Y626C possibly damaging Het
Fmn2 A G 1: 174,440,170 (GRCm39) R1196G probably damaging Het
Gabrr1 C T 4: 33,160,225 (GRCm39) S303F probably damaging Het
Ggt1 T C 10: 75,414,689 (GRCm39) V169A possibly damaging Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,497,361 (GRCm39) probably null Het
Gpr88 A C 3: 116,046,264 (GRCm39) S16A unknown Het
Kalrn A T 16: 33,851,952 (GRCm39) M2076K possibly damaging Het
Katnip A G 7: 125,412,768 (GRCm39) T371A probably benign Het
Kcnd3 T C 3: 105,566,025 (GRCm39) I402T probably damaging Het
Mink1 A G 11: 70,489,714 (GRCm39) D57G probably benign Het
Ncl T C 1: 86,279,162 (GRCm39) T584A possibly damaging Het
Nfx1 A T 4: 40,977,244 (GRCm39) Q306L probably benign Het
Ogdh A T 11: 6,290,504 (GRCm39) D374V probably benign Het
Or5d39 T A 2: 87,980,259 (GRCm39) T35S probably benign Het
Pak5 T A 2: 135,925,211 (GRCm39) H697L probably damaging Het
Pappa T C 4: 65,234,469 (GRCm39) C1425R probably damaging Het
Pramel26 T C 4: 143,539,406 (GRCm39) E29G possibly damaging Het
Rab3gap2 T A 1: 185,013,882 (GRCm39) I1196N probably damaging Het
Ralyl A T 3: 14,172,299 (GRCm39) D56V probably damaging Het
Scin C T 12: 40,119,446 (GRCm39) probably null Het
Slc25a19 T C 11: 115,514,781 (GRCm39) I69V possibly damaging Het
Slc8a1 G T 17: 81,956,269 (GRCm39) Y256* probably null Het
Smyd1 T C 6: 71,196,272 (GRCm39) H372R probably benign Het
St8sia1 T C 6: 142,859,848 (GRCm39) T94A probably damaging Het
Stard9 T A 2: 120,527,916 (GRCm39) M1391K possibly damaging Het
Tlr9 G A 9: 106,100,721 (GRCm39) R4H probably benign Het
Trim50 A G 5: 135,382,331 (GRCm39) D61G probably damaging Het
Ttn G A 2: 76,597,295 (GRCm39) P19873S probably damaging Het
Vmn1r228 G T 17: 20,996,772 (GRCm39) H249N probably benign Het
Vmn2r108 C T 17: 20,683,279 (GRCm39) G642S probably damaging Het
Wdr27 A G 17: 15,154,831 (GRCm39) S29P probably benign Het
Zan A G 5: 137,415,298 (GRCm39) probably null Het
Other mutations in Gm3182
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03068:Gm3182 APN 14 4,483,921 (GRCm38) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AGTTAGCAGGTAGGTCATGGC -3'
(R):5'- TGGCAAAGTCCAAGGCTTC -3'

Sequencing Primer
(F):5'- CATGGCAGTTGCTAGTGATATCATC -3'
(R):5'- AAGTCCAAGGCTTCAGCTTG -3'
Posted On 2019-06-07