Incidental Mutation 'IGL01086:1700016H13Rik'
ID 51072
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700016H13Rik
Ensembl Gene ENSMUSG00000029320
Gene Name RIKEN cDNA 1700016H13 gene
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01086
Quality Score
Status
Chromosome 5
Chromosomal Location 103796449-103803898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103796729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 104 (R104S)
Ref Sequence ENSEMBL: ENSMUSP00000114503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031261] [ENSMUST00000119824] [ENSMUST00000120108] [ENSMUST00000120688] [ENSMUST00000134926] [ENSMUST00000154096] [ENSMUST00000154408]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000031261
Predicted Effect probably damaging
Transcript: ENSMUST00000119824
AA Change: R104S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113935
Gene: ENSMUSG00000029320
AA Change: R104S

DomainStartEndE-ValueType
Pfam:DUF4522 1 117 3.5e-75 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120108
AA Change: R104S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113969
Gene: ENSMUSG00000029320
AA Change: R104S

DomainStartEndE-ValueType
Pfam:DUF4522 1 117 3.5e-75 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120688
AA Change: R104S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113469
Gene: ENSMUSG00000029320
AA Change: R104S

DomainStartEndE-ValueType
Pfam:DUF4522 1 117 3.5e-75 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000134926
AA Change: R104S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114503
Gene: ENSMUSG00000029320
AA Change: R104S

DomainStartEndE-ValueType
Pfam:DUF4522 1 117 9.7e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154096
Predicted Effect probably benign
Transcript: ENSMUST00000154408
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Aim2 A G 1: 173,282,999 (GRCm39) Y27C probably damaging Het
Apol7b T C 15: 77,308,114 (GRCm39) E127G probably damaging Het
Atp10a T C 7: 58,474,066 (GRCm39) F1118L probably damaging Het
Cacna1e T C 1: 154,347,347 (GRCm39) D940G probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Clip4 G A 17: 72,131,789 (GRCm39) V376I probably benign Het
Cmklr2 T C 1: 63,222,650 (GRCm39) E195G probably benign Het
Coro6 C A 11: 77,357,374 (GRCm39) C194* probably null Het
Crebbp T C 16: 3,997,416 (GRCm39) M223V probably benign Het
Dkk4 T A 8: 23,116,857 (GRCm39) C157S probably damaging Het
Dnah14 T C 1: 181,579,611 (GRCm39) L3048S probably benign Het
Dscaml1 T C 9: 45,613,960 (GRCm39) probably benign Het
Gria2 T C 3: 80,599,688 (GRCm39) Y732C probably damaging Het
Igkv4-59 T C 6: 69,415,707 (GRCm39) I7V probably benign Het
Lamc3 T C 2: 31,788,488 (GRCm39) F216S probably damaging Het
Lcn6 T C 2: 25,570,792 (GRCm39) F61L probably benign Het
Nup205 T A 6: 35,185,871 (GRCm39) probably benign Het
Or5w18 T A 2: 87,633,544 (GRCm39) Y266* probably null Het
Otof C T 5: 30,533,617 (GRCm39) probably null Het
Pik3c2b T C 1: 133,019,356 (GRCm39) C1035R probably damaging Het
Pla1a T C 16: 38,227,984 (GRCm39) N298D probably benign Het
Poteg T A 8: 27,963,648 (GRCm39) probably benign Het
Pwp1 T C 10: 85,715,757 (GRCm39) probably null Het
Scel A G 14: 103,849,827 (GRCm39) I631V probably benign Het
Scn3a T A 2: 65,300,503 (GRCm39) M1288L probably benign Het
Serpina11 T A 12: 103,952,329 (GRCm39) D147V probably damaging Het
Shroom3 T A 5: 93,096,311 (GRCm39) C1266S probably benign Het
Slc12a7 A G 13: 73,962,962 (GRCm39) Y1054C probably damaging Het
Srms A G 2: 180,854,216 (GRCm39) V117A probably damaging Het
Tmem161b T C 13: 84,370,541 (GRCm39) probably benign Het
Tmem94 A T 11: 115,681,110 (GRCm39) T158S probably benign Het
Tomm40l T C 1: 171,047,878 (GRCm39) probably null Het
Traf6 A G 2: 101,515,128 (GRCm39) I95V probably benign Het
Ttc13 A G 8: 125,402,085 (GRCm39) I686T probably damaging Het
Zmat2 C T 18: 36,929,163 (GRCm39) H104Y probably damaging Het
Other mutations in 1700016H13Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0197:1700016H13Rik UTSW 5 103,796,687 (GRCm39) makesense probably null
R0414:1700016H13Rik UTSW 5 103,797,356 (GRCm39) missense probably benign 0.00
R0883:1700016H13Rik UTSW 5 103,796,687 (GRCm39) makesense probably null
R5655:1700016H13Rik UTSW 5 103,796,746 (GRCm39) missense probably benign 0.09
R7841:1700016H13Rik UTSW 5 103,802,806 (GRCm39) missense possibly damaging 0.95
R7861:1700016H13Rik UTSW 5 103,797,360 (GRCm39) missense possibly damaging 0.93
Z1088:1700016H13Rik UTSW 5 103,797,434 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21