Incidental Mutation 'IGL01640:1700003H04Rik'
ID 93105
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 # IGL01640
Quality Score
Status
Chromosome 3
Chromosomal Location 124359540-124374740 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124373587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 3 (T3A)
Ref Sequence ENSEMBL: ENSMUSP00000137342 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047110] [ENSMUST00000178485] [ENSMUST00000178953] [ENSMUST00000180033] [ENSMUST00000180162]
AlphaFold E9PXM2
Predicted Effect possibly damaging
Transcript: ENSMUST00000047110
AA Change: T3A

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000035388
Gene: ENSMUSG00000039174
AA Change: T3A

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 damaging
Transcript: ENSMUST00000178485
AA Change: T3A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136984
Gene: ENSMUSG00000039174
AA Change: T3A

DomainStartEndE-ValueType
SCOP:d1kz7a2 7 68 2e-4 SMART
Blast:PH 18 99 2e-54 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000178953
AA Change: T3A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000136955
Gene: ENSMUSG00000039174
AA Change: T3A

DomainStartEndE-ValueType
Blast:PH 18 91 3e-16 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000180033
AA Change: T3A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136217
Gene: ENSMUSG00000039174
AA Change: T3A

DomainStartEndE-ValueType
PH 18 119 1.53e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000180162
AA Change: T3A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137342
Gene: ENSMUSG00000039174
AA Change: T3A

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik A T 7: 130,740,848 (GRCm39) S123T possibly damaging Het
Adamts17 A T 7: 66,679,428 (GRCm39) T559S probably damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Arel1 G A 12: 84,967,475 (GRCm39) T783M probably damaging Het
B3gntl1 C T 11: 121,563,846 (GRCm39) E5K probably benign Het
Faf1 T A 4: 109,697,600 (GRCm39) F309I probably damaging Het
Fhod3 T G 18: 25,248,850 (GRCm39) M1343R probably benign Het
Fnbp1 A G 2: 30,995,303 (GRCm39) F44L probably damaging Het
Gm3633 A T 14: 42,460,324 (GRCm39) Y206* probably null Het
Gprc6a A C 10: 51,503,180 (GRCm39) F228V probably damaging Het
Il31ra T C 13: 112,668,292 (GRCm39) I453V possibly damaging Het
Kif2a A G 13: 107,111,060 (GRCm39) I529T probably damaging Het
Lrrc19 C T 4: 94,526,745 (GRCm39) V271I probably damaging Het
Ncaph2 A G 15: 89,248,041 (GRCm39) probably null Het
Nek5 A G 8: 22,610,856 (GRCm39) I49T probably benign Het
Nhlrc3 A T 3: 53,360,958 (GRCm39) probably benign Het
Or51ac3 A G 7: 103,214,228 (GRCm39) V86A probably damaging Het
Or52n20 A T 7: 104,320,871 (GRCm39) S321C probably damaging Het
Or8g28 C A 9: 39,169,559 (GRCm39) M136I probably damaging Het
Pcnx2 T C 8: 126,528,297 (GRCm39) T1308A probably benign Het
Pla2g6 T C 15: 79,188,513 (GRCm39) N448S probably benign Het
Pole T A 5: 110,446,132 (GRCm39) L571Q probably null Het
Rufy1 A G 11: 50,281,205 (GRCm39) probably benign Het
Sftpd C A 14: 40,894,592 (GRCm39) A276S probably benign Het
Slc35f4 A C 14: 49,556,225 (GRCm39) V176G probably damaging Het
Snrpb T C 2: 130,017,251 (GRCm39) D89G probably benign Het
Stab2 A T 10: 86,790,035 (GRCm39) V577D probably benign Het
Synrg A C 11: 83,872,334 (GRCm39) S152R probably damaging Het
Trgv7 T C 13: 19,362,260 (GRCm39) probably benign Het
Trpm1 A G 7: 63,876,645 (GRCm39) E682G probably damaging Het
Unc80 T C 1: 66,718,744 (GRCm39) I2989T probably benign Het
Vmn1r116 A G 7: 20,606,373 (GRCm39) T65A probably benign Het
Zfp469 G A 8: 122,998,009 (GRCm39) probably benign Het
Other mutations in 1700003H04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01451:1700003H04Rik APN 3 124,373,527 (GRCm39) missense possibly damaging 0.83
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 2013-12-09