Incidental Mutation 'IGL01451:1700003H04Rik'
ID84635
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700003H04Rik
Ensembl Gene ENSMUSG00000039174
Gene NameRIKEN cDNA 1700003H04 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL01451
Quality Score
Status
Chromosome3
Chromosomal Location124556352-124581101 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 124579878 bp
ZygosityHeterozygous
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]
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: 121,519,376 Y618C probably benign Het
Amigo2 A C 15: 97,245,226 S438R probably benign Het
Atp5k T C 5: 108,434,056 I21V probably benign Het
Dnah2 T C 11: 69,474,191 probably benign Het
Dock2 A G 11: 34,310,390 Y984H probably damaging Het
Dpysl2 T A 14: 66,807,918 I469F possibly damaging Het
Edem3 C T 1: 151,818,628 T886I probably benign Het
Gart T C 16: 91,625,512 T706A probably benign Het
Gfpt2 A T 11: 49,807,690 probably benign Het
Gm11541 T G 11: 94,695,669 D84A unknown Het
Gne T C 4: 44,041,860 probably null Het
Gria4 A T 9: 4,503,652 D321E probably benign Het
Ift122 T G 6: 115,912,604 probably null Het
Lcp2 A T 11: 34,047,345 probably benign Het
Mcm2 C T 6: 88,891,966 probably benign Het
Olfr921 A G 9: 38,775,929 I225V probably benign Het
Ptpru C A 4: 131,769,492 probably benign Het
Rpap2 T C 5: 107,603,626 probably null Het
Slc25a39 T C 11: 102,404,900 T138A probably damaging Het
St6galnac1 A C 11: 116,769,339 S49R probably benign Het
Stat1 T C 1: 52,139,343 L312P probably damaging Het
Tmem198 T C 1: 75,484,370 probably benign Het
Top2a A T 11: 99,011,030 L458Q probably damaging Het
Treml4 T C 17: 48,264,995 probably benign Het
Trpm6 A G 19: 18,809,569 D503G probably damaging Het
Ttn C A 2: 76,945,273 E1854D unknown Het
Ubqln3 A T 7: 104,142,196 M229K possibly damaging Het
Zfyve9 T C 4: 108,682,260 T939A probably damaging Het
Other mutations in 1700003H04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01640:1700003H04Rik APN 3 124579938 missense probably damaging 0.99
IGL03240:1700003H04Rik APN 3 124556716 utr 3 prime probably benign
R1513:1700003H04Rik UTSW 3 124575336 missense possibly damaging 0.91
R1537:1700003H04Rik UTSW 3 124578475 missense possibly damaging 0.66
R1832:1700003H04Rik UTSW 3 124556860 missense unknown
R1833:1700003H04Rik UTSW 3 124556860 missense unknown
R1872:1700003H04Rik UTSW 3 124556844 missense unknown
R2993:1700003H04Rik UTSW 3 124578535 missense probably damaging 1.00
R4118:1700003H04Rik UTSW 3 124579854 missense possibly damaging 0.92
R5271:1700003H04Rik UTSW 3 124579847 missense possibly damaging 0.66
R5911:1700003H04Rik UTSW 3 124556731 utr 3 prime probably benign
R7479:1700003H04Rik UTSW 3 124578493 missense probably benign 0.00
R7573:1700003H04Rik UTSW 3 124573268 missense
R7995:1700003H04Rik UTSW 3 124556879 missense unknown
Posted On2013-11-11