Incidental Mutation 'IGL03120:1110059G10Rik'
ID 409942
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1110059G10Rik
Ensembl Gene ENSMUSG00000032551
Gene Name RIKEN cDNA 1110059G10 gene
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03120
Quality Score
Status
Chromosome 9
Chromosomal Location 122774154-122780065 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122778118 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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

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

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000217401
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215176
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216730
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1e T C 1: 154,319,627 (GRCm39) I1420V probably damaging Het
Cemip2 G A 19: 21,801,207 (GRCm39) D775N possibly damaging Het
Corin T C 5: 72,518,032 (GRCm39) Y263C probably damaging Het
Cyp4f15 A T 17: 32,909,738 (GRCm39) I112F probably damaging Het
Dach1 T C 14: 98,065,225 (GRCm39) E724G probably damaging Het
Dip2b T C 15: 100,101,008 (GRCm39) probably benign Het
Dnah2 T A 11: 69,312,674 (GRCm39) E4297V probably damaging Het
Dot1l A G 10: 80,622,107 (GRCm39) probably benign Het
Endod1 C A 9: 14,268,331 (GRCm39) V385F probably damaging Het
Etnppl A G 3: 130,414,341 (GRCm39) T73A probably damaging Het
Frmd4b T A 6: 97,373,206 (GRCm39) D104V possibly damaging Het
Gp5 T C 16: 30,127,016 (GRCm39) I553V possibly damaging Het
Gpc5 A G 14: 115,607,556 (GRCm39) E386G possibly damaging Het
Hbb-bs A G 7: 103,476,985 (GRCm39) probably benign Het
Klra2 T A 6: 131,197,180 (GRCm39) Y273F probably benign Het
Lrrc37 T C 11: 103,507,801 (GRCm39) probably benign Het
Msto1 A T 3: 88,818,116 (GRCm39) V366E probably damaging Het
Mtcl1 A G 17: 66,686,378 (GRCm39) S843P probably damaging Het
Nhsl2 A G X: 101,114,939 (GRCm39) N97S probably benign Het
Npm2 C A 14: 70,890,039 (GRCm39) probably benign Het
Npr2 C T 4: 43,643,133 (GRCm39) R506C probably damaging Het
Olr1 T C 6: 129,465,898 (GRCm39) E36G probably damaging Het
Or56b2 A T 7: 104,337,609 (GRCm39) Y129F probably benign Het
Pcdhb19 A G 18: 37,631,209 (GRCm39) I335V probably benign Het
Pla2g6 T C 15: 79,171,060 (GRCm39) D772G probably damaging Het
Ppfibp1 C A 6: 146,899,667 (GRCm39) D119E probably benign Het
Prdm9 T C 17: 15,765,193 (GRCm39) N529S probably benign Het
Rnf20 T A 4: 49,649,955 (GRCm39) probably benign Het
Spata31h1 A G 10: 82,120,869 (GRCm39) V77A possibly damaging Het
Tmem132c T A 5: 127,640,448 (GRCm39) V873E probably benign Het
Ttn T C 2: 76,757,428 (GRCm39) probably null Het
Vmn2r54 A G 7: 12,349,314 (GRCm39) I756T probably damaging Het
Other mutations in 1110059G10Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02415:1110059G10Rik APN 9 122,777,056 (GRCm39) missense probably benign 0.01
R4908:1110059G10Rik UTSW 9 122,778,008 (GRCm39) missense probably benign 0.28
R8314:1110059G10Rik UTSW 9 122,777,993 (GRCm39) missense probably benign
R8848:1110059G10Rik UTSW 9 122,778,106 (GRCm39) missense probably benign 0.01
R9052:1110059G10Rik UTSW 9 122,778,031 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02