Incidental Mutation 'IGL01751:1600015I10Rik'
List |< first << previous [record 42 of 55675] next >> last >|
ID153123
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1600015I10Rik
Ensembl Gene ENSMUSG00000029813
Gene NameRIKEN cDNA 1600015I10 gene
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.340) question?
Stock #IGL01751
Quality Score
Status
Chromosome6
Chromosomal Location48929895-48933687 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 48930588 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 174 (H174L)
Ref Sequence ENSEMBL: ENSMUSP00000031837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031837]
Predicted Effect possibly damaging
Transcript: ENSMUST00000031837
AA Change: H174L

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031837
Gene: ENSMUSG00000029813
AA Change: H174L

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:Cu_amine_oxidN2 50 136 1.7e-25 PFAM
Pfam:Cu_amine_oxidN3 152 252 3.5e-16 PFAM
Pfam:Cu_amine_oxid 306 708 7.1e-94 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158710
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A G 5: 145,043,171 probably null Het
Auts2 G T 5: 131,472,360 Q72K probably damaging Het
Btbd11 C A 10: 85,654,502 Q1011K probably damaging Het
Ccdc7b A T 8: 129,136,568 probably benign Het
Frem3 A G 8: 80,615,743 E1555G probably benign Het
Gm1966 T A 7: 106,602,309 N576I possibly damaging Het
Gm5263 T G 1: 146,420,564 noncoding transcript Het
Gm5828 A G 1: 16,769,984 noncoding transcript Het
Gm6605 T C 7: 38,448,206 noncoding transcript Het
Hps3 T C 3: 20,010,966 D638G probably damaging Het
Igdcc4 A T 9: 65,131,732 N887I probably damaging Het
Itpkc G A 7: 27,213,066 probably benign Het
Mfge8 A G 7: 79,136,655 probably null Het
Mrc2 G T 11: 105,325,734 L116F probably benign Het
Necab1 T C 4: 14,978,171 D226G probably damaging Het
Neurod2 T C 11: 98,327,375 E321G possibly damaging Het
Obp2b G T 2: 25,737,748 V59L possibly damaging Het
Olfr1173 A T 2: 88,274,633 C139S possibly damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr292 A T 7: 86,694,789 Q111L probably benign Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Olr1 T C 6: 129,488,848 N65S possibly damaging Het
Rock1 A G 18: 10,079,113 probably null Het
Scn3a T A 2: 65,461,252 M1717L possibly damaging Het
Smg7 T C 1: 152,844,061 D903G possibly damaging Het
Tlr1 A T 5: 64,925,947 L429* probably null Het
Ttll9 A T 2: 152,983,105 N68I probably damaging Het
Ttn A G 2: 76,737,599 V25904A possibly damaging Het
Uaca G A 9: 60,869,857 V507M probably damaging Het
Vmn1r195 G T 13: 22,279,251 C297F probably benign Het
Zdhhc2 G A 8: 40,473,001 A346T probably benign Het
Other mutations in 1600015I10Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00925:1600015I10Rik APN 6 48931040 missense probably damaging 1.00
IGL01347:1600015I10Rik APN 6 48932543 missense probably benign 0.02
IGL01915:1600015I10Rik APN 6 48931648 missense probably damaging 1.00
IGL02669:1600015I10Rik APN 6 48931473 missense probably damaging 1.00
IGL03033:1600015I10Rik APN 6 48932518 missense probably benign 0.00
IGL03242:1600015I10Rik APN 6 48932545 missense possibly damaging 0.68
R0096:1600015I10Rik UTSW 6 48931188 missense probably damaging 1.00
R0096:1600015I10Rik UTSW 6 48931188 missense probably damaging 1.00
R0448:1600015I10Rik UTSW 6 48933057 missense probably damaging 1.00
R1488:1600015I10Rik UTSW 6 48933447 missense possibly damaging 0.91
R1498:1600015I10Rik UTSW 6 48931371 missense probably benign 0.00
R1520:1600015I10Rik UTSW 6 48931297 nonsense probably null
R1922:1600015I10Rik UTSW 6 48931286 missense probably benign 0.00
R1992:1600015I10Rik UTSW 6 48930769 missense probably damaging 1.00
R1997:1600015I10Rik UTSW 6 48932429 missense probably damaging 0.98
R2021:1600015I10Rik UTSW 6 48931451 missense probably damaging 1.00
R3771:1600015I10Rik UTSW 6 48931196 missense probably damaging 1.00
R4208:1600015I10Rik UTSW 6 48931647 missense probably damaging 1.00
R4790:1600015I10Rik UTSW 6 48930552 missense probably damaging 0.99
R5114:1600015I10Rik UTSW 6 48931358 missense probably benign 0.02
R5610:1600015I10Rik UTSW 6 48931019 missense probably benign 0.00
R5823:1600015I10Rik UTSW 6 48930552 missense probably damaging 0.99
R5847:1600015I10Rik UTSW 6 48933478 missense probably damaging 1.00
R6233:1600015I10Rik UTSW 6 48930965 missense probably benign
R6357:1600015I10Rik UTSW 6 48930974 missense probably benign 0.00
R6694:1600015I10Rik UTSW 6 48930546 missense probably benign 0.21
R6733:1600015I10Rik UTSW 6 48930530 missense probably damaging 1.00
R6894:1600015I10Rik UTSW 6 48930662 missense probably damaging 1.00
R6898:1600015I10Rik UTSW 6 48931041 missense probably damaging 0.97
R6916:1600015I10Rik UTSW 6 48931053 missense probably benign 0.01
X0062:1600015I10Rik UTSW 6 48933132 missense possibly damaging 0.55
Posted On2014-02-04