Incidental Mutation 'IGL03120:1110059G10Rik'
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Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1110059G10Rik
Ensembl Gene ENSMUSG00000032551
Gene NameRIKEN cDNA 1110059G10 gene
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL03120
Quality Score
Chromosomal Location122945089-122951000 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 122949053 bp
Amino Acid Change Leucine to Proline at position 42 (L42P)
Ref Sequence ENSEMBL: ENSMUSP00000035154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035154] [ENSMUST00000040717] [ENSMUST00000118422] [ENSMUST00000213745] [ENSMUST00000214652] [ENSMUST00000217401]
Predicted Effect probably benign
Transcript: ENSMUST00000035154
AA Change: L42P

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000035154
Gene: ENSMUSG00000032551
AA Change: L42P

Pfam:DUF4604 4 152 6.9e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000040717
SMART Domains Protein: ENSMUSP00000035490
Gene: ENSMUSG00000036768

KISc 24 371 2.86e-179 SMART
Pfam:Kinesin-relat_1 463 551 6.6e-26 PFAM
coiled coil region 579 643 N/A INTRINSIC
coiled coil region 706 1037 N/A INTRINSIC
coiled coil region 1065 1133 N/A INTRINSIC
Pfam:HMMR_C 1265 1387 3.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118422
Predicted Effect probably benign
Transcript: ENSMUST00000213745
Predicted Effect probably benign
Transcript: ENSMUST00000214652
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214921
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215176
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216730
Predicted Effect probably benign
Transcript: ENSMUST00000217401
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik A G 10: 82,285,035 V77A possibly damaging Het
Cacna1e T C 1: 154,443,881 I1420V probably damaging Het
Corin T C 5: 72,360,689 Y263C probably damaging Het
Cyp4f15 A T 17: 32,690,764 I112F probably damaging Het
Dach1 T C 14: 97,827,789 E724G probably damaging Het
Dip2b T C 15: 100,203,127 probably benign Het
Dnah2 T A 11: 69,421,848 E4297V probably damaging Het
Dot1l A G 10: 80,786,273 probably benign Het
Endod1 C A 9: 14,357,035 V385F probably damaging Het
Etnppl A G 3: 130,620,692 T73A probably damaging Het
Frmd4b T A 6: 97,396,245 D104V possibly damaging Het
Gm884 T C 11: 103,616,975 probably benign Het
Gp5 T C 16: 30,308,198 I553V possibly damaging Het
Gpc5 A G 14: 115,370,144 E386G possibly damaging Het
Hbb-bs A G 7: 103,827,778 probably benign Het
Klra2 T A 6: 131,220,217 Y273F probably benign Het
Msto1 A T 3: 88,910,809 V366E probably damaging Het
Mtcl1 A G 17: 66,379,383 S843P probably damaging Het
Nhsl2 A G X: 102,071,333 N97S probably benign Het
Npm2 C A 14: 70,652,599 probably benign Het
Npr2 C T 4: 43,643,133 R506C probably damaging Het
Olfr661 A T 7: 104,688,402 Y129F probably benign Het
Olr1 T C 6: 129,488,935 E36G probably damaging Het
Pcdhb19 A G 18: 37,498,156 I335V probably benign Het
Pla2g6 T C 15: 79,286,860 D772G probably damaging Het
Ppfibp1 C A 6: 146,998,169 D119E probably benign Het
Prdm9 T C 17: 15,544,931 N529S probably benign Het
Rnf20 T A 4: 49,649,955 probably benign Het
Tmem132c T A 5: 127,563,384 V873E probably benign Het
Tmem2 G A 19: 21,823,843 D775N possibly damaging Het
Ttn T C 2: 76,927,084 probably null Het
Vmn2r54 A G 7: 12,615,387 I756T probably damaging Het
Other mutations in 1110059G10Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02415:1110059G10Rik APN 9 122947991 missense probably benign 0.01
R4908:1110059G10Rik UTSW 9 122948943 missense probably benign 0.28
R8314:1110059G10Rik UTSW 9 122948928 missense probably benign
Posted On2016-08-02