Incidental Mutation 'IGL01451:1700003H04Rik'
ID 84635
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700003H04Rik
Ensembl Gene ENSMUSG00000039174
Gene Name RIKEN cDNA 1700003H04 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL01451
Quality Score
Status
Chromosome 3
Chromosomal Location 124359540-124374740 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124373527 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 23 (S23P)
Ref Sequence ENSEMBL: ENSMUSP00000136955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047110] [ENSMUST00000178485] [ENSMUST00000178953] [ENSMUST00000180033] [ENSMUST00000180162]
AlphaFold E9PXM2
Predicted Effect probably benign
Transcript: ENSMUST00000047110
AA Change: S23P

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000035388
Gene: ENSMUSG00000039174
AA Change: S23P

DomainStartEndE-ValueType
SCOP:d1kz7a2 7 68 4e-4 SMART
Blast:PH 18 114 4e-35 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000177772
Predicted Effect probably benign
Transcript: ENSMUST00000178485
AA Change: S23P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000136984
Gene: ENSMUSG00000039174
AA Change: S23P

DomainStartEndE-ValueType
SCOP:d1kz7a2 7 68 2e-4 SMART
Blast:PH 18 99 2e-54 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000178953
AA Change: S23P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136955
Gene: ENSMUSG00000039174
AA Change: S23P

DomainStartEndE-ValueType
Blast:PH 18 91 3e-16 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000180033
AA Change: S23P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000136217
Gene: ENSMUSG00000039174
AA Change: S23P

DomainStartEndE-ValueType
PH 18 119 1.53e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000180162
AA Change: S23P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000137342
Gene: ENSMUSG00000039174
AA Change: S23P

DomainStartEndE-ValueType
SCOP:d1kz7a2 7 117 2e-7 SMART
Blast:PH 18 115 1e-67 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1a T C 5: 121,657,439 (GRCm39) Y618C probably benign Het
Amigo2 A C 15: 97,143,107 (GRCm39) S438R probably benign Het
Atp5me T C 5: 108,581,922 (GRCm39) I21V probably benign Het
Dnah2 T C 11: 69,365,017 (GRCm39) probably benign Het
Dock2 A G 11: 34,260,390 (GRCm39) Y984H probably damaging Het
Dpysl2 T A 14: 67,045,367 (GRCm39) I469F possibly damaging Het
Edem3 C T 1: 151,694,379 (GRCm39) T886I probably benign Het
Gart T C 16: 91,422,400 (GRCm39) T706A probably benign Het
Gfpt2 A T 11: 49,698,517 (GRCm39) probably benign Het
Gm11541 T G 11: 94,586,495 (GRCm39) D84A unknown Het
Gne T C 4: 44,041,860 (GRCm39) probably null Het
Gria4 A T 9: 4,503,652 (GRCm39) D321E probably benign Het
Ift122 T G 6: 115,889,565 (GRCm39) probably null Het
Lcp2 A T 11: 33,997,345 (GRCm39) probably benign Het
Mcm2 C T 6: 88,868,948 (GRCm39) probably benign Het
Or8b54 A G 9: 38,687,225 (GRCm39) I225V probably benign Het
Ptpru C A 4: 131,496,803 (GRCm39) probably benign Het
Rpap2 T C 5: 107,751,492 (GRCm39) probably null Het
Slc25a39 T C 11: 102,295,726 (GRCm39) T138A probably damaging Het
St6galnac1 A C 11: 116,660,165 (GRCm39) S49R probably benign Het
Stat1 T C 1: 52,178,502 (GRCm39) L312P probably damaging Het
Tmem198 T C 1: 75,461,014 (GRCm39) probably benign Het
Top2a A T 11: 98,901,856 (GRCm39) L458Q probably damaging Het
Treml4 T C 17: 48,572,023 (GRCm39) probably benign Het
Trpm6 A G 19: 18,786,933 (GRCm39) D503G probably damaging Het
Ttn C A 2: 76,775,617 (GRCm39) E1854D unknown Het
Ubqln3 A T 7: 103,791,403 (GRCm39) M229K possibly damaging Het
Zfyve9 T C 4: 108,539,457 (GRCm39) T939A probably damaging Het
Other mutations in 1700003H04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01640:1700003H04Rik APN 3 124,373,587 (GRCm39) missense probably damaging 0.99
IGL03240:1700003H04Rik APN 3 124,350,365 (GRCm39) utr 3 prime probably benign
R1513:1700003H04Rik UTSW 3 124,368,985 (GRCm39) missense possibly damaging 0.91
R1537:1700003H04Rik UTSW 3 124,372,124 (GRCm39) missense possibly damaging 0.66
R1832:1700003H04Rik UTSW 3 124,350,509 (GRCm39) missense unknown
R1833:1700003H04Rik UTSW 3 124,350,509 (GRCm39) missense unknown
R1872:1700003H04Rik UTSW 3 124,350,493 (GRCm39) missense unknown
R2993:1700003H04Rik UTSW 3 124,372,184 (GRCm39) missense probably damaging 1.00
R4118:1700003H04Rik UTSW 3 124,373,503 (GRCm39) missense possibly damaging 0.92
R5271:1700003H04Rik UTSW 3 124,373,496 (GRCm39) missense possibly damaging 0.66
R5911:1700003H04Rik UTSW 3 124,350,380 (GRCm39) utr 3 prime probably benign
R7479:1700003H04Rik UTSW 3 124,372,142 (GRCm39) missense probably benign 0.00
R7573:1700003H04Rik UTSW 3 124,366,917 (GRCm39) missense
R7995:1700003H04Rik UTSW 3 124,350,528 (GRCm39) missense unknown
R9532:1700003H04Rik UTSW 3 124,350,397 (GRCm39) missense unknown
Posted On 2013-11-11