Incidental Mutation 'IGL01954:2310007B03Rik'
ID181360
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2310007B03Rik
Ensembl Gene ENSMUSG00000034159
Gene NameRIKEN cDNA 2310007B03 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01954
Quality Score
Status
Chromosome1
Chromosomal Location93151349-93160948 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 93152072 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 432 (D432V)
Ref Sequence ENSEMBL: ENSMUSP00000115971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043718] [ENSMUST00000143419]
Predicted Effect probably damaging
Transcript: ENSMUST00000043718
AA Change: D432V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000035332
Gene: ENSMUSG00000034159
AA Change: D432V

DomainStartEndE-ValueType
Mab-21 71 372 2.18e-52 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000143419
AA Change: D432V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115971
Gene: ENSMUSG00000034159
AA Change: D432V

DomainStartEndE-ValueType
Mab-21 71 372 2.18e-52 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik A T 7: 34,245,035 W91R probably damaging Het
Acsm3 T C 7: 119,775,083 probably benign Het
Ankrd26 T A 6: 118,559,005 Y156F possibly damaging Het
Bcr G A 10: 75,175,341 probably null Het
Cpn2 C T 16: 30,260,320 A188T probably benign Het
Ctdsp1 T C 1: 74,394,083 probably benign Het
Cts7 T A 13: 61,352,823 R303S probably benign Het
Dock7 T C 4: 99,083,151 D59G probably damaging Het
Gm436 A T 4: 144,670,171 D330E probably damaging Het
Gpr149 T C 3: 62,530,927 N603S probably benign Het
Gucy2g A G 19: 55,198,691 I1099T probably benign Het
Gzf1 G A 2: 148,684,061 A151T probably benign Het
Ighv1-80 A T 12: 115,912,633 V21D probably benign Het
Klhl18 T C 9: 110,428,866 Y432C probably damaging Het
Lama4 A G 10: 39,087,299 D1289G probably benign Het
Mcm7 T C 5: 138,167,245 T466A probably damaging Het
Megf8 A G 7: 25,349,014 E1704G possibly damaging Het
Mettl25 C T 10: 105,823,207 C405Y probably damaging Het
Muc6 A C 7: 141,638,584 S2059A probably benign Het
Ndc1 T A 4: 107,395,804 I590N probably damaging Het
Npnt G T 3: 132,909,963 N137K probably damaging Het
Numa1 C T 7: 101,996,093 R309* probably null Het
Ogfod3 G A 11: 121,203,025 T53I probably benign Het
Olfr110 C A 17: 37,498,649 probably benign Het
Olfr266 A G 3: 106,821,995 I188T possibly damaging Het
Pcdhb9 G T 18: 37,401,741 V263F probably damaging Het
Pld4 T C 12: 112,767,921 probably null Het
Ppp2r3c A G 12: 55,292,568 L170P probably damaging Het
Prex2 T A 1: 11,140,011 D558E possibly damaging Het
Rasal2 A G 1: 157,177,699 S227P possibly damaging Het
Rasal2 A T 1: 157,176,116 D324E probably damaging Het
Rcbtb1 A G 14: 59,229,967 Y418C probably damaging Het
Rhag T C 17: 40,828,450 F92S possibly damaging Het
Scel T C 14: 103,603,242 probably benign Het
Serinc5 A G 13: 92,682,933 N125S probably damaging Het
Sgpl1 A T 10: 61,100,893 M561K probably benign Het
Sostdc1 T C 12: 36,317,122 V99A probably damaging Het
Them6 A G 15: 74,721,689 Y132C probably damaging Het
Vmn2r27 A T 6: 124,192,248 F641Y probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps13c A G 9: 67,969,298 Y3384C probably damaging Het
Zbtb32 G T 7: 30,589,928 probably null Het
Other mutations in 2310007B03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0018:2310007B03Rik UTSW 1 93154605 missense probably benign 0.00
R0115:2310007B03Rik UTSW 1 93159725 missense possibly damaging 0.70
R0467:2310007B03Rik UTSW 1 93153044 missense probably damaging 1.00
R1452:2310007B03Rik UTSW 1 93152939 missense probably damaging 1.00
R1938:2310007B03Rik UTSW 1 93152008 makesense probably null
R3156:2310007B03Rik UTSW 1 93160042 missense possibly damaging 0.95
R4740:2310007B03Rik UTSW 1 93156168 missense probably benign 0.01
R5260:2310007B03Rik UTSW 1 93159978 missense probably damaging 0.99
R5283:2310007B03Rik UTSW 1 93159853 missense probably benign 0.02
R5645:2310007B03Rik UTSW 1 93152946 missense probably damaging 1.00
R6380:2310007B03Rik UTSW 1 93160891 splice site probably null
R6738:2310007B03Rik UTSW 1 93159985 missense probably benign 0.30
R7184:2310007B03Rik UTSW 1 93154515 missense probably benign 0.00
R7227:2310007B03Rik UTSW 1 93152014 missense probably benign 0.00
R7562:2310007B03Rik UTSW 1 93159967 missense probably damaging 1.00
R8001:2310007B03Rik UTSW 1 93154599 missense probably damaging 1.00
Posted On2014-05-07