Incidental Mutation 'IGL00936:4930562C15Rik'
ID 29153
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930562C15Rik
Ensembl Gene ENSMUSG00000022518
Gene Name RIKEN cDNA 4930562C15 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL00936
Quality Score
Status
Chromosome 16
Chromosomal Location 4653280-4685550 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4682510 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1053 (T1053A)
Ref Sequence ENSEMBL: ENSMUSP00000097784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100211] [ENSMUST00000171105] [ENSMUST00000176394] [ENSMUST00000176982]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000100211
AA Change: T1053A

PolyPhen 2 Score 0.309 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097784
Gene: ENSMUSG00000022518
AA Change: T1053A

DomainStartEndE-ValueType
coiled coil region 74 101 N/A INTRINSIC
coiled coil region 181 211 N/A INTRINSIC
internal_repeat_1 289 315 2.54e-5 PROSPERO
internal_repeat_1 314 341 2.54e-5 PROSPERO
low complexity region 360 377 N/A INTRINSIC
low complexity region 402 424 N/A INTRINSIC
low complexity region 452 469 N/A INTRINSIC
low complexity region 573 604 N/A INTRINSIC
low complexity region 616 627 N/A INTRINSIC
low complexity region 630 647 N/A INTRINSIC
low complexity region 652 672 N/A INTRINSIC
Pfam:DUF4795 745 960 1.7e-46 PFAM
low complexity region 1095 1109 N/A INTRINSIC
low complexity region 1111 1125 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171105
AA Change: T214A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000127814
Gene: ENSMUSG00000022518
AA Change: T214A

DomainStartEndE-ValueType
Pfam:DUF4795 37 125 1.1e-20 PFAM
low complexity region 256 270 N/A INTRINSIC
low complexity region 272 286 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000175762
AA Change: T117A
Predicted Effect probably benign
Transcript: ENSMUST00000176394
Predicted Effect probably benign
Transcript: ENSMUST00000176982
Predicted Effect probably benign
Transcript: ENSMUST00000180566
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180939
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Col13a1 A G 10: 61,712,069 (GRCm39) M332T probably damaging Het
Cstdc1 A C 2: 148,627,724 (GRCm39) T124P probably benign Het
Cyth4 A G 15: 78,504,113 (GRCm39) E361G probably benign Het
Mrps22 T C 9: 98,479,034 (GRCm39) T114A possibly damaging Het
Nup155 T C 15: 8,157,889 (GRCm39) probably benign Het
Or5b113 T A 19: 13,341,988 (GRCm39) probably benign Het
Slc35g3 T C 11: 69,651,317 (GRCm39) probably null Het
Taar7f T C 10: 23,926,066 (GRCm39) V220A probably benign Het
Other mutations in 4930562C15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01610:4930562C15Rik APN 16 4,669,429 (GRCm39) splice site probably benign
IGL02869:4930562C15Rik APN 16 4,685,323 (GRCm39) missense possibly damaging 0.68
IGL03242:4930562C15Rik APN 16 4,667,189 (GRCm39) missense unknown
R0063:4930562C15Rik UTSW 16 4,678,912 (GRCm39) nonsense probably null
R0063:4930562C15Rik UTSW 16 4,678,912 (GRCm39) nonsense probably null
R0083:4930562C15Rik UTSW 16 4,667,406 (GRCm39) missense unknown
R0565:4930562C15Rik UTSW 16 4,682,200 (GRCm39) missense probably benign 0.22
R0630:4930562C15Rik UTSW 16 4,668,803 (GRCm39) missense possibly damaging 0.90
R0734:4930562C15Rik UTSW 16 4,668,198 (GRCm39) missense probably benign 0.01
R1200:4930562C15Rik UTSW 16 4,667,536 (GRCm39) missense unknown
R1738:4930562C15Rik UTSW 16 4,682,475 (GRCm39) missense probably damaging 1.00
R1775:4930562C15Rik UTSW 16 4,669,422 (GRCm39) splice site probably null
R1945:4930562C15Rik UTSW 16 4,653,549 (GRCm39) missense unknown
R2132:4930562C15Rik UTSW 16 4,653,835 (GRCm39) missense unknown
R2445:4930562C15Rik UTSW 16 4,682,261 (GRCm39) splice site probably null
R2696:4930562C15Rik UTSW 16 4,668,228 (GRCm39) missense probably benign 0.04
R4729:4930562C15Rik UTSW 16 4,667,187 (GRCm39) missense unknown
R4779:4930562C15Rik UTSW 16 4,667,613 (GRCm39) missense unknown
R4806:4930562C15Rik UTSW 16 4,667,536 (GRCm39) missense unknown
R4808:4930562C15Rik UTSW 16 4,667,536 (GRCm39) missense unknown
R4876:4930562C15Rik UTSW 16 4,667,536 (GRCm39) missense unknown
R4931:4930562C15Rik UTSW 16 4,678,910 (GRCm39) missense possibly damaging 0.47
R4956:4930562C15Rik UTSW 16 4,672,816 (GRCm39) missense probably damaging 0.99
R5085:4930562C15Rik UTSW 16 4,653,837 (GRCm39) nonsense probably null
R5203:4930562C15Rik UTSW 16 4,653,462 (GRCm39) missense unknown
R5229:4930562C15Rik UTSW 16 4,667,915 (GRCm39) missense possibly damaging 0.73
R5461:4930562C15Rik UTSW 16 4,682,227 (GRCm39) missense probably damaging 1.00
R5462:4930562C15Rik UTSW 16 4,682,227 (GRCm39) missense probably damaging 1.00
R5464:4930562C15Rik UTSW 16 4,682,227 (GRCm39) missense probably damaging 1.00
R5595:4930562C15Rik UTSW 16 4,682,143 (GRCm39) missense probably benign 0.01
R6054:4930562C15Rik UTSW 16 4,653,729 (GRCm39) missense unknown
R6405:4930562C15Rik UTSW 16 4,669,742 (GRCm39) missense probably damaging 0.97
R6859:4930562C15Rik UTSW 16 4,669,799 (GRCm39) missense possibly damaging 0.86
R7124:4930562C15Rik UTSW 16 4,682,196 (GRCm39) missense probably benign 0.02
R7139:4930562C15Rik UTSW 16 4,668,048 (GRCm39) missense probably benign 0.00
R7182:4930562C15Rik UTSW 16 4,667,578 (GRCm39) missense unknown
R7219:4930562C15Rik UTSW 16 4,667,508 (GRCm39) missense unknown
R7366:4930562C15Rik UTSW 16 4,653,633 (GRCm39) missense unknown
R7592:4930562C15Rik UTSW 16 4,667,138 (GRCm39) missense unknown
R7759:4930562C15Rik UTSW 16 4,682,514 (GRCm39) missense probably benign 0.01
R7789:4930562C15Rik UTSW 16 4,682,175 (GRCm39) missense probably benign 0.01
R7873:4930562C15Rik UTSW 16 4,684,091 (GRCm39) missense probably benign
R7916:4930562C15Rik UTSW 16 4,682,454 (GRCm39) nonsense probably null
R8093:4930562C15Rik UTSW 16 4,669,368 (GRCm39) missense possibly damaging 0.86
R8169:4930562C15Rik UTSW 16 4,684,082 (GRCm39) missense probably benign 0.00
R8278:4930562C15Rik UTSW 16 4,668,040 (GRCm39) missense probably benign 0.33
R8372:4930562C15Rik UTSW 16 4,682,152 (GRCm39) missense probably damaging 0.99
R8493:4930562C15Rik UTSW 16 4,653,453 (GRCm39) start codon destroyed unknown
R8549:4930562C15Rik UTSW 16 4,681,061 (GRCm39) critical splice donor site probably null
R8947:4930562C15Rik UTSW 16 4,665,292 (GRCm39) missense unknown
R9137:4930562C15Rik UTSW 16 4,685,312 (GRCm39) missense probably benign
R9339:4930562C15Rik UTSW 16 4,667,521 (GRCm39) missense unknown
R9422:4930562C15Rik UTSW 16 4,667,153 (GRCm39) missense
R9561:4930562C15Rik UTSW 16 4,680,980 (GRCm39) missense possibly damaging 0.52
R9618:4930562C15Rik UTSW 16 4,667,418 (GRCm39) missense unknown
R9747:4930562C15Rik UTSW 16 4,668,711 (GRCm39) missense probably damaging 1.00
R9773:4930562C15Rik UTSW 16 4,668,057 (GRCm39) missense possibly damaging 0.86
X0028:4930562C15Rik UTSW 16 4,685,231 (GRCm39) missense possibly damaging 0.83
Z1176:4930562C15Rik UTSW 16 4,684,112 (GRCm39) missense possibly damaging 0.54
Posted On 2013-04-17