Incidental Mutation 'IGL01925:1190002N15Rik'
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ID180263
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1190002N15Rik
Ensembl Gene ENSMUSG00000045414
Gene NameRIKEN cDNA 1190002N15 gene
SynonymsGoPro49
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.233) question?
Stock #IGL01925
Quality Score
Status
Chromosome9
Chromosomal Location94517864-94538081 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 94520456 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 384 (D384E)
Ref Sequence ENSEMBL: ENSMUSP00000108651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113028]
Predicted Effect probably damaging
Transcript: ENSMUST00000113028
AA Change: D384E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108651
Gene: ENSMUSG00000045414
AA Change: D384E

DomainStartEndE-ValueType
low complexity region 7 38 N/A INTRINSIC
low complexity region 97 113 N/A INTRINSIC
Pfam:PIP49_C 206 405 2e-56 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aloxe3 A G 11: 69,128,633 D124G probably damaging Het
Arap3 C T 18: 37,984,246 V926I probably benign Het
Col6a3 C T 1: 90,802,236 V1176M possibly damaging Het
D5Ertd579e A T 5: 36,614,284 D922E possibly damaging Het
Epm2a T A 10: 11,448,758 I197N possibly damaging Het
Faim T G 9: 98,990,919 probably benign Het
Fkbp15 A G 4: 62,323,213 I565T probably damaging Het
Fli1 G A 9: 32,465,831 P47L probably damaging Het
Gli2 T C 1: 118,853,376 K187R probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm16432 T A 1: 178,015,121 probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Hspa5 G A 2: 34,774,718 V395I probably benign Het
Ide T C 19: 37,277,897 Het
Il9 T A 13: 56,481,871 probably benign Het
Ints8 C T 4: 11,235,617 probably benign Het
Lrrc37a T A 11: 103,498,419 H2060L probably benign Het
Mok T C 12: 110,808,212 N208S probably benign Het
Morn3 T C 5: 123,046,762 K5R probably damaging Het
Nalcn C T 14: 123,291,848 C1405Y possibly damaging Het
Ndufv3 T C 17: 31,527,486 S117P possibly damaging Het
Ninl A T 2: 150,971,059 C226S probably damaging Het
Olfr120 A G 17: 37,726,111 E29G probably benign Het
Olfr1364 T C 13: 21,574,171 D95G possibly damaging Het
Olfr1532-ps1 T A 7: 106,915,028 F277I probably damaging Het
Olfr275 A G 4: 52,825,910 N171S probably benign Het
Olfr366 A G 2: 37,220,046 T186A probably benign Het
Olfr558 T C 7: 102,710,203 S315P probably damaging Het
Onecut2 T C 18: 64,341,514 W360R probably damaging Het
Rai14 A G 15: 10,595,862 S118P possibly damaging Het
Serpinb7 T C 1: 107,451,669 S269P probably benign Het
Sesn3 C T 9: 14,320,400 T209I probably damaging Het
Slit1 T A 19: 41,608,378 N1094I probably damaging Het
Tep1 C T 14: 50,824,498 probably benign Het
Top1mt A G 15: 75,657,143 F584S possibly damaging Het
Trim44 A T 2: 102,400,017 L223Q probably benign Het
Trim69 T A 2: 122,167,916 L123Q probably damaging Het
Ubr2 A T 17: 46,954,949 L1153I possibly damaging Het
Unc13a G A 8: 71,634,543 T1520I possibly damaging Het
Vmn2r105 A C 17: 20,208,711 I701S possibly damaging Het
Wrn T C 8: 33,319,180 T263A probably benign Het
Yeats2 T G 16: 20,179,680 probably benign Het
Ythdf2 T C 4: 132,210,774 Y37C probably damaging Het
Zfp169 T C 13: 48,490,763 probably benign Het
Other mutations in 1190002N15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0153:1190002N15Rik UTSW 9 94524480 missense probably benign 0.17
R2109:1190002N15Rik UTSW 9 94524445 missense probably damaging 0.99
R2986:1190002N15Rik UTSW 9 94520517 missense probably damaging 1.00
R4623:1190002N15Rik UTSW 9 94520398 missense possibly damaging 0.48
R4677:1190002N15Rik UTSW 9 94520404 missense probably damaging 1.00
R4705:1190002N15Rik UTSW 9 94520635 missense possibly damaging 0.68
R4876:1190002N15Rik UTSW 9 94537577 missense probably damaging 0.99
R4994:1190002N15Rik UTSW 9 94537433 missense probably benign 0.06
R5322:1190002N15Rik UTSW 9 94520562 missense probably benign 0.00
R5425:1190002N15Rik UTSW 9 94537692 missense probably damaging 0.99
R5739:1190002N15Rik UTSW 9 94520541 missense possibly damaging 0.84
R6788:1190002N15Rik UTSW 9 94524449 missense probably benign 0.14
Posted On2014-05-07