Incidental Mutation 'IGL02400:2610028H24Rik'
ID291852
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2610028H24Rik
Ensembl Gene ENSMUSG00000009114
Gene NameRIKEN cDNA 2610028H24 gene
SynonymsORF67
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL02400
Quality Score
Status
Chromosome10
Chromosomal Location76449081-76461110 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 76454810 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 128 (I128V)
Ref Sequence ENSEMBL: ENSMUSP00000101055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049185] [ENSMUST00000092406] [ENSMUST00000105415]
Predicted Effect probably benign
Transcript: ENSMUST00000049185
SMART Domains Protein: ENSMUSP00000045647
Gene: ENSMUSG00000033126

DomainStartEndE-ValueType
Pfam:UPF0054 8 148 7.6e-29 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000092406
AA Change: I149V

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000090061
Gene: ENSMUSG00000009114
AA Change: I149V

DomainStartEndE-ValueType
low complexity region 13 27 N/A INTRINSIC
low complexity region 94 140 N/A INTRINSIC
Pfam:DUF4587 145 216 7.6e-33 PFAM
low complexity region 223 235 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000105415
AA Change: I128V

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101055
Gene: ENSMUSG00000009114
AA Change: I128V

DomainStartEndE-ValueType
low complexity region 73 119 N/A INTRINSIC
Pfam:DUF4587 124 195 4.4e-34 PFAM
low complexity region 202 214 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef3 G T 10: 18,646,257 Q674K probably damaging Het
Atp6v0a2 T A 5: 124,721,785 N851K probably benign Het
Chrna7 A G 7: 63,099,322 C471R probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Egflam T A 15: 7,247,053 K544M probably benign Het
Erbb3 A C 10: 128,579,524 N385K probably benign Het
Fancm A G 12: 65,113,815 R1388G probably damaging Het
Gm10720 C A 9: 3,016,900 probably null Het
Gm20489 A T X: 101,263,338 N328K possibly damaging Het
Gm5828 G T 1: 16,769,818 noncoding transcript Het
Gnaq T C 19: 16,316,128 Y145H probably damaging Het
Itgbl1 A G 14: 123,846,526 D148G probably damaging Het
Myc T G 15: 61,989,911 probably benign Het
Olfr1033 A T 2: 86,042,076 I254F probably benign Het
Olfr801 A G 10: 129,669,883 V212A probably damaging Het
Olfr975 A G 9: 39,950,339 V144A probably benign Het
Padi3 T G 4: 140,788,868 K567T probably benign Het
Pi4ka T C 16: 17,293,884 T1576A probably damaging Het
Pikfyve A G 1: 65,252,569 R1316G probably damaging Het
Ryr2 A G 13: 11,605,244 probably benign Het
Sash1 G A 10: 8,733,647 R713* probably null Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Tnfsf4 T A 1: 161,395,705 C42S possibly damaging Het
Tpp1 A G 7: 105,747,031 I487T possibly damaging Het
Trim43a T A 9: 88,582,112 N25K probably benign Het
Tuft1 T C 3: 94,635,502 probably benign Het
Usp46 T C 5: 74,037,052 H26R probably benign Het
Zfp560 A T 9: 20,350,600 I85N possibly damaging Het
Other mutations in 2610028H24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02951:2610028H24Rik APN 10 76454702 splice site probably benign
PIT4283001:2610028H24Rik UTSW 10 76449259 start codon destroyed probably benign 0.01
R0013:2610028H24Rik UTSW 10 76457512 missense probably benign 0.32
R0295:2610028H24Rik UTSW 10 76454808 missense probably damaging 0.99
R2018:2610028H24Rik UTSW 10 76458065 missense possibly damaging 0.85
R2019:2610028H24Rik UTSW 10 76458065 missense possibly damaging 0.85
R2128:2610028H24Rik UTSW 10 76457515 missense possibly damaging 0.93
R2129:2610028H24Rik UTSW 10 76457515 missense possibly damaging 0.93
R4776:2610028H24Rik UTSW 10 76457512 missense probably benign 0.16
R5638:2610028H24Rik UTSW 10 76452895 missense probably benign 0.17
R5808:2610028H24Rik UTSW 10 76450648 missense probably damaging 1.00
R5896:2610028H24Rik UTSW 10 76452830 missense probably benign 0.01
R5990:2610028H24Rik UTSW 10 76449289 missense probably benign 0.08
R6238:2610028H24Rik UTSW 10 76449262 missense possibly damaging 0.86
R6505:2610028H24Rik UTSW 10 76449281 missense probably benign 0.02
R7741:2610028H24Rik UTSW 10 76454717 missense probably damaging 0.99
X0026:2610028H24Rik UTSW 10 76458091 missense possibly damaging 0.91
Z1176:2610028H24Rik UTSW 10 76452863 missense probably damaging 1.00
Posted On2015-04-16