Incidental Mutation 'IGL02170:2610318N02Rik'
ID 282858
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2610318N02Rik
Ensembl Gene ENSMUSG00000049916
Gene Name RIKEN cDNA 2610318N02 gene
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02170
Quality Score
Status
Chromosome 16
Chromosomal Location 16931262-16943031 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 16936196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 176 (P176L)
Ref Sequence ENSEMBL: ENSMUSP00000156313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093336] [ENSMUST00000207116] [ENSMUST00000231297] [ENSMUST00000231558] [ENSMUST00000231681]
AlphaFold Q80VT5
Predicted Effect probably damaging
Transcript: ENSMUST00000093336
AA Change: P176L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091026
Gene: ENSMUSG00000049916
AA Change: P176L

DomainStartEndE-ValueType
low complexity region 118 131 N/A INTRINSIC
low complexity region 137 172 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000207116
AA Change: P176L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000231297
AA Change: P176L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231303
Predicted Effect probably damaging
Transcript: ENSMUST00000231558
AA Change: P176L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231630
Predicted Effect probably damaging
Transcript: ENSMUST00000231681
AA Change: P176L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232601
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,561,467 (GRCm39) M265V probably benign Het
A2ml1 T C 6: 128,524,173 (GRCm39) E1153G possibly damaging Het
Adam22 T C 5: 8,184,845 (GRCm39) T452A probably benign Het
Ambra1 A G 2: 91,597,432 (GRCm39) T56A possibly damaging Het
Atp1a4 A G 1: 172,062,103 (GRCm39) V674A possibly damaging Het
Ccnb1 A T 13: 100,919,994 (GRCm39) Y172* probably null Het
Chrdl2 A T 7: 99,683,821 (GRCm39) T416S possibly damaging Het
Col6a5 A G 9: 105,805,621 (GRCm39) L1095P unknown Het
Dhx16 T C 17: 36,200,361 (GRCm39) C901R probably damaging Het
Dip2c A G 13: 9,656,371 (GRCm39) T732A probably benign Het
Dnah12 A C 14: 26,495,069 (GRCm39) I1376L probably damaging Het
Dock2 A T 11: 34,217,949 (GRCm39) L1207Q probably damaging Het
Eif2ak1 A T 5: 143,816,278 (GRCm39) H192L probably benign Het
Evi5 T A 5: 107,969,750 (GRCm39) T54S probably benign Het
Fam151a T C 4: 106,592,795 (GRCm39) probably null Het
Fam98a C T 17: 75,847,187 (GRCm39) probably null Het
Frmd4a G A 2: 4,570,988 (GRCm39) R306K probably damaging Het
Fxyd7 C A 7: 30,744,432 (GRCm39) V28L possibly damaging Het
Gabrb1 T A 5: 72,294,073 (GRCm39) I449K probably damaging Het
Gkn3 G T 6: 87,360,493 (GRCm39) D167E possibly damaging Het
Gm14496 A T 2: 181,638,144 (GRCm39) Y406F probably damaging Het
Gm8603 T A 17: 13,737,073 (GRCm39) noncoding transcript Het
Hecw1 T C 13: 14,438,743 (GRCm39) N880S possibly damaging Het
Hivep2 C A 10: 14,003,548 (GRCm39) Q49K possibly damaging Het
Hscb T A 5: 110,987,492 (GRCm39) S35C probably damaging Het
Hspa12a T G 19: 58,793,113 (GRCm39) K357N probably benign Het
Kcnu1 A T 8: 26,427,588 (GRCm39) I302F probably damaging Het
Krtap5-3 T A 7: 141,756,215 (GRCm39) C351S unknown Het
Mvd A G 8: 123,164,747 (GRCm39) V142A probably benign Het
Myo1f A T 17: 33,797,246 (GRCm39) I143L probably benign Het
Ncoa7 T A 10: 30,565,849 (GRCm39) E599D possibly damaging Het
Nfasc A T 1: 132,538,104 (GRCm39) C495* probably null Het
Nfx1 G A 4: 41,018,019 (GRCm39) G920E probably damaging Het
Nlrp4g T G 9: 124,348,980 (GRCm38) noncoding transcript Het
Nup85 T A 11: 115,468,757 (GRCm39) V200E probably damaging Het
Or2z2 T A 11: 58,345,906 (GRCm39) I290F probably damaging Het
Or5an1c T C 19: 12,218,120 (GRCm39) M302V probably benign Het
Pask T C 1: 93,238,606 (GRCm39) Q1293R possibly damaging Het
Ppfia2 T A 10: 106,636,646 (GRCm39) S232T probably benign Het
Prr12 G A 7: 44,695,612 (GRCm39) R1285W unknown Het
Rimoc1 C T 15: 4,015,848 (GRCm39) V239I probably benign Het
Rxylt1 A T 10: 121,930,548 (GRCm39) D126E probably damaging Het
Slc1a1 T A 19: 28,880,153 (GRCm39) F278I possibly damaging Het
Sos1 G T 17: 80,705,719 (GRCm39) T1284N probably damaging Het
Sp2 T A 11: 96,847,036 (GRCm39) Q475L probably damaging Het
Spmip2 C A 3: 79,356,741 (GRCm39) probably benign Het
Spmip2 C A 3: 79,356,742 (GRCm39) probably benign Het
Sspo A T 6: 48,444,917 (GRCm39) T2134S possibly damaging Het
Tbx1 C A 16: 18,401,552 (GRCm39) A300S probably benign Het
Uap1 A C 1: 169,994,281 (GRCm39) V65G probably benign Het
Ubr2 G A 17: 47,278,123 (GRCm39) T738I probably benign Het
Uvrag A T 7: 98,758,297 (GRCm39) Y81* probably null Het
Vmn2r116 T G 17: 23,603,907 (GRCm39) I44S probably benign Het
Xkr8 A T 4: 132,455,688 (GRCm39) Y228* probably null Het
Zbtb20 A G 16: 43,430,025 (GRCm39) I106V possibly damaging Het
Zc3h7a C T 16: 10,964,259 (GRCm39) S683N probably benign Het
Zfp146 A T 7: 29,861,905 (GRCm39) C46S possibly damaging Het
Zfp871 T C 17: 32,994,662 (GRCm39) E152G possibly damaging Het
Zfp90 T C 8: 107,146,156 (GRCm39) V57A probably damaging Het
Zhx3 A T 2: 160,621,718 (GRCm39) N816K probably damaging Het
Other mutations in 2610318N02Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:2610318N02Rik APN 16 16,931,410 (GRCm39) missense possibly damaging 0.59
R1174:2610318N02Rik UTSW 16 16,935,446 (GRCm39) missense probably benign 0.13
R1175:2610318N02Rik UTSW 16 16,935,446 (GRCm39) missense probably benign 0.13
R2155:2610318N02Rik UTSW 16 16,939,260 (GRCm39) missense probably damaging 1.00
R4948:2610318N02Rik UTSW 16 16,936,154 (GRCm39) critical splice donor site probably null
R6198:2610318N02Rik UTSW 16 16,936,233 (GRCm39) missense probably damaging 1.00
R7307:2610318N02Rik UTSW 16 16,936,259 (GRCm39) missense probably benign
R7401:2610318N02Rik UTSW 16 16,936,268 (GRCm39) missense probably benign 0.00
R7636:2610318N02Rik UTSW 16 16,935,701 (GRCm39) missense possibly damaging 0.78
Posted On 2015-04-16