Incidental Mutation 'IGL00910:5031439G07Rik'
ID 29043
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 5031439G07Rik
Ensembl Gene ENSMUSG00000036046
Gene Name RIKEN cDNA 5031439G07 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # IGL00910
Quality Score
Status
Chromosome 15
Chromosomal Location 84828137-84872503 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84840020 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 109 (L109P)
Ref Sequence ENSEMBL: ENSMUSP00000037011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047144] [ENSMUST00000165743]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000047144
AA Change: L109P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037011
Gene: ENSMUSG00000036046
AA Change: L109P

DomainStartEndE-ValueType
Pfam:DUF2045 25 264 7.4e-123 PFAM
low complexity region 347 362 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116791
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124308
Predicted Effect probably damaging
Transcript: ENSMUST00000165743
AA Change: L152P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128699
Gene: ENSMUSG00000036046
AA Change: L152P

DomainStartEndE-ValueType
Pfam:DUF2045 71 305 7.3e-103 PFAM
low complexity region 390 405 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170863
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T A 5: 125,585,772 (GRCm39) M316K probably benign Het
Adarb2 T C 13: 8,722,469 (GRCm39) V375A probably damaging Het
Adgra2 C A 8: 27,576,011 (GRCm39) A13E possibly damaging Het
Ankrd34c A T 9: 89,611,079 (GRCm39) S421T probably benign Het
Bpifa6 A T 2: 153,832,386 (GRCm39) M298L probably benign Het
Casq2 T C 3: 102,017,547 (GRCm39) probably benign Het
Ckap5 A G 2: 91,406,395 (GRCm39) T762A probably benign Het
Dhx38 A G 8: 110,285,666 (GRCm39) V389A probably benign Het
Dnah7b A T 1: 46,105,889 (GRCm39) probably benign Het
Dnajc7 A T 11: 100,490,017 (GRCm39) F79L possibly damaging Het
Dyrk3 A G 1: 131,064,073 (GRCm39) I3T possibly damaging Het
Fchsd2 T C 7: 100,926,833 (GRCm39) I641T probably benign Het
Furin A G 7: 80,040,744 (GRCm39) V698A probably benign Het
Lratd1 T C 12: 14,200,527 (GRCm39) S67G probably benign Het
Prl2c5 G A 13: 13,364,061 (GRCm39) probably null Het
Ryr3 A T 2: 112,559,279 (GRCm39) probably benign Het
Serpina6 G T 12: 103,618,224 (GRCm39) probably benign Het
Slc6a2 A G 8: 93,722,728 (GRCm39) Y575C probably damaging Het
Trim9 T C 12: 70,393,887 (GRCm39) E19G probably damaging Het
Tsfm G T 10: 126,864,228 (GRCm39) probably benign Het
Other mutations in 5031439G07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02752:5031439G07Rik APN 15 84,840,042 (GRCm39) nonsense probably null
R0269:5031439G07Rik UTSW 15 84,838,201 (GRCm39) missense possibly damaging 0.92
R0899:5031439G07Rik UTSW 15 84,833,459 (GRCm39) missense probably damaging 1.00
R1302:5031439G07Rik UTSW 15 84,837,477 (GRCm39) missense probably damaging 1.00
R1442:5031439G07Rik UTSW 15 84,839,833 (GRCm39) splice site probably benign
R1468:5031439G07Rik UTSW 15 84,837,345 (GRCm39) missense probably damaging 1.00
R1468:5031439G07Rik UTSW 15 84,837,345 (GRCm39) missense probably damaging 1.00
R2299:5031439G07Rik UTSW 15 84,837,486 (GRCm39) missense possibly damaging 0.59
R5721:5031439G07Rik UTSW 15 84,844,798 (GRCm39) missense probably damaging 1.00
R5912:5031439G07Rik UTSW 15 84,839,897 (GRCm39) missense possibly damaging 0.84
R5971:5031439G07Rik UTSW 15 84,871,863 (GRCm39) missense possibly damaging 0.65
R6131:5031439G07Rik UTSW 15 84,844,793 (GRCm39) missense probably damaging 1.00
R6981:5031439G07Rik UTSW 15 84,833,798 (GRCm39) nonsense probably null
R7173:5031439G07Rik UTSW 15 84,833,848 (GRCm39) missense possibly damaging 0.93
R7220:5031439G07Rik UTSW 15 84,837,337 (GRCm39) missense probably damaging 1.00
R7554:5031439G07Rik UTSW 15 84,839,686 (GRCm39) missense probably damaging 1.00
R7956:5031439G07Rik UTSW 15 84,834,963 (GRCm39) missense possibly damaging 0.83
R8218:5031439G07Rik UTSW 15 84,839,668 (GRCm39) missense probably damaging 0.99
R8500:5031439G07Rik UTSW 15 84,871,836 (GRCm39) missense probably benign
R8501:5031439G07Rik UTSW 15 84,844,724 (GRCm39) missense probably damaging 1.00
R8880:5031439G07Rik UTSW 15 84,839,867 (GRCm39) missense possibly damaging 0.95
R9032:5031439G07Rik UTSW 15 84,844,782 (GRCm39) missense probably benign 0.34
Z1177:5031439G07Rik UTSW 15 84,834,843 (GRCm39) missense possibly damaging 0.52
Posted On 2013-04-17