Incidental Mutation 'IGL02149:B430306N03Rik'
ID281884
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B430306N03Rik
Ensembl Gene ENSMUSG00000043740
Gene NameRIKEN cDNA B430306N03 gene
Synonyms
Accession Numbers

Genbank: NM_177083.4; Ensembl: ENSMUST00000049614

Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #IGL02149
Quality Score
Status
Chromosome17
Chromosomal Location48316141-48327024 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 48316992 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 107 (V107A)
Ref Sequence ENSEMBL: ENSMUSP00000054890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049614] [ENSMUST00000125174] [ENSMUST00000129825] [ENSMUST00000170941]
Predicted Effect probably benign
Transcript: ENSMUST00000049614
AA Change: V107A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000054890
Gene: ENSMUSG00000043740
AA Change: V107A

DomainStartEndE-ValueType
low complexity region 8 17 N/A INTRINSIC
IG 26 122 2.96e-6 SMART
transmembrane domain 155 177 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124205
Predicted Effect probably benign
Transcript: ENSMUST00000125174
AA Change: V107A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120251
Gene: ENSMUSG00000043740
AA Change: V107A

DomainStartEndE-ValueType
low complexity region 8 17 N/A INTRINSIC
IG 26 122 2.96e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129825
AA Change: V107A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000122378
Gene: ENSMUSG00000043740
AA Change: V107A

DomainStartEndE-ValueType
low complexity region 8 17 N/A INTRINSIC
IG 26 122 2.96e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170941
SMART Domains Protein: ENSMUSP00000128215
Gene: ENSMUSG00000071068

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 31 129 3.13e-5 SMART
low complexity region 181 199 N/A INTRINSIC
transmembrane domain 268 290 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam10 A T 9: 70,703,431 H67L probably damaging Het
Adgrb1 C T 15: 74,540,477 T435I probably damaging Het
Adgrd1 T A 5: 129,179,261 F652Y probably damaging Het
Adgrl4 T A 3: 151,500,354 F250Y possibly damaging Het
Aebp2 C T 6: 140,642,284 A360V probably benign Het
AW551984 A C 9: 39,592,924 M582R probably benign Het
Cage1 T C 13: 38,022,529 N447D probably damaging Het
Col17a1 T C 19: 47,668,632 D524G probably benign Het
Dpp6 A T 5: 27,538,024 I218F probably benign Het
Ep300 T G 15: 81,628,420 probably benign Het
Ephb2 C T 4: 136,693,914 C375Y probably damaging Het
Fastk A G 5: 24,444,053 V112A probably damaging Het
Fbxo11 T A 17: 87,993,759 R775S possibly damaging Het
Fbxw20 A G 9: 109,233,818 probably null Het
Hamp2 G T 7: 30,922,697 A50E probably damaging Het
Iltifb C A 10: 118,294,997 probably benign Het
Ints1 G A 5: 139,751,960 R2139C probably damaging Het
Itgae T A 11: 73,103,894 V24E probably benign Het
Jakmip3 G A 7: 139,007,346 V60M possibly damaging Het
Kcnk10 A C 12: 98,518,840 probably benign Het
Klra1 A T 6: 130,375,330 C150S probably damaging Het
Lhx9 A T 1: 138,831,434 V376E probably damaging Het
Mdm1 T A 10: 118,148,065 F199I probably damaging Het
Nipal3 G T 4: 135,466,852 T290K possibly damaging Het
Obsl1 C T 1: 75,503,820 E387K probably damaging Het
Olfr902 A G 9: 38,449,397 H175R probably damaging Het
Oxct1 A G 15: 4,091,229 Y265C probably damaging Het
Pccb G A 9: 100,985,190 H411Y probably damaging Het
Pkp1 A G 1: 135,886,747 S279P probably benign Het
Prdm14 C A 1: 13,125,439 G133C probably benign Het
Prkaa2 A T 4: 105,040,088 N309K probably benign Het
Shc2 T C 10: 79,622,268 D527G probably damaging Het
Shkbp1 C T 7: 27,342,639 probably benign Het
Skil T C 3: 31,097,707 V126A possibly damaging Het
Slc25a36 A T 9: 97,093,069 probably benign Het
Slc2a13 T C 15: 91,343,721 T423A probably benign Het
Spty2d1 A G 7: 47,008,144 probably benign Het
Stag1 A G 9: 100,887,389 D519G probably benign Het
Tmprss2 G T 16: 97,599,279 probably benign Het
Trim66 G T 7: 109,460,902 T759K possibly damaging Het
Trpc4ap C A 2: 155,639,547 A530S probably damaging Het
Ttn A T 2: 76,811,755 D11625E probably damaging Het
Ube4b T C 4: 149,398,684 I42M possibly damaging Het
Ubxn10 A G 4: 138,721,273 S31P probably benign Het
Ubxn7 A G 16: 32,375,270 Y220C probably damaging Het
Vmn1r234 A G 17: 21,229,007 Y61C probably benign Het
Other mutations in B430306N03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01404:B430306N03Rik APN 17 48321073 missense probably damaging 1.00
IGL02221:B430306N03Rik APN 17 48324195 utr 3 prime probably benign
IGL03112:B430306N03Rik APN 17 48316806 missense probably benign 0.06
IGL03223:B430306N03Rik APN 17 48316868 missense probably damaging 1.00
1mM(1):B430306N03Rik UTSW 17 48322403 splice site probably benign
R1917:B430306N03Rik UTSW 17 48324148 missense probably benign 0.44
R2086:B430306N03Rik UTSW 17 48316782 missense probably damaging 1.00
R3052:B430306N03Rik UTSW 17 48316910 missense probably damaging 0.98
R3695:B430306N03Rik UTSW 17 48319166 missense possibly damaging 0.86
R6319:B430306N03Rik UTSW 17 48316743 missense probably damaging 1.00
R6453:B430306N03Rik UTSW 17 48316736 missense probably damaging 0.97
R6523:B430306N03Rik UTSW 17 48319165 missense possibly damaging 0.53
R7140:B430306N03Rik UTSW 17 48322455 nonsense probably null
R7905:B430306N03Rik UTSW 17 48316960 missense probably benign 0.10
R7973:B430306N03Rik UTSW 17 48316455 missense probably benign 0.09
Posted On2015-04-16