Incidental Mutation 'IGL01978:9830107B12Rik'
ID181786
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 9830107B12Rik
Ensembl Gene ENSMUSG00000073386
Gene NameRIKEN cDNA 9830107B12 gene
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01978
Quality Score
Status
Chromosome17
Chromosomal Location48125605-48146307 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 48145993 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 6 (T6S)
Ref Sequence ENSEMBL: ENSMUSP00000070138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063481]
Predicted Effect probably damaging
Transcript: ENSMUST00000063481
AA Change: T6S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000070138
Gene: ENSMUSG00000073386
AA Change: T6S

DomainStartEndE-ValueType
low complexity region 8 17 N/A INTRINSIC
IG 26 122 3.65e-6 SMART
low complexity region 144 158 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A T 15: 8,219,382 N1805I probably damaging Het
Acot5 T C 12: 84,075,398 V252A possibly damaging Het
Bmper A T 9: 23,381,441 N349Y probably damaging Het
Brap A G 5: 121,678,847 probably benign Het
Col9a2 G A 4: 121,044,666 G139E unknown Het
Cyp2j8 A C 4: 96,504,009 probably null Het
Dcbld2 A G 16: 58,464,319 D612G probably benign Het
Dsc3 C T 18: 19,974,196 R456Q possibly damaging Het
Fat2 T C 11: 55,270,146 T3253A probably benign Het
Hoxc12 T A 15: 102,936,864 H4Q probably damaging Het
Il6st A G 13: 112,497,357 E445G possibly damaging Het
Ipo8 T C 6: 148,777,289 E937G probably benign Het
Kif5a A C 10: 127,245,739 D185E probably benign Het
Klhl38 T C 15: 58,315,089 D495G probably damaging Het
Klra5 A G 6: 129,911,430 V11A probably benign Het
Lrch1 G A 14: 74,786,342 T581M probably damaging Het
Mecom A G 3: 29,963,166 I450T probably damaging Het
Mrgprb2 C A 7: 48,552,564 V138L probably damaging Het
Muc15 G A 2: 110,731,596 A126T probably benign Het
Mybpc1 A T 10: 88,531,770 I522K probably damaging Het
Nectin1 G A 9: 43,792,147 R234H probably damaging Het
Olfr1450 T C 19: 12,954,042 F151S probably benign Het
Olfr190 A T 16: 59,074,267 I271K probably benign Het
Pdia6 T A 12: 17,274,422 H91Q possibly damaging Het
Pfkfb4 A T 9: 109,028,942 H445L probably damaging Het
Pkd1l1 T C 11: 8,961,336 T314A unknown Het
Rb1cc1 A G 1: 6,238,368 D159G probably damaging Het
Rhoh T A 5: 65,892,688 S100R probably benign Het
Rsbn1 T A 3: 103,961,500 D618E probably damaging Het
Slc25a47 T C 12: 108,851,190 V4A probably damaging Het
Svs3b T A 2: 164,256,621 M1L probably benign Het
Thsd7a T C 6: 12,331,006 N1379S probably benign Het
Tmed3 T C 9: 89,704,753 D58G probably benign Het
Trh G A 6: 92,242,615 A240V probably benign Het
Ubox5 A T 2: 130,600,452 V105E probably benign Het
Vmn2r67 A G 7: 85,151,441 probably null Het
Vps13c A G 9: 67,930,643 H1825R probably benign Het
Wasf1 C A 10: 40,936,201 P329T unknown Het
Wee2 T C 6: 40,455,153 F219L probably damaging Het
Zp3r T C 1: 130,598,941 D175G probably damaging Het
Other mutations in 9830107B12Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:9830107B12Rik APN 17 48145684 missense possibly damaging 0.74
IGL01457:9830107B12Rik APN 17 48128583 splice site probably benign
IGL01586:9830107B12Rik APN 17 48128515 missense unknown
IGL01792:9830107B12Rik APN 17 48145509 missense probably damaging 1.00
IGL02347:9830107B12Rik APN 17 48145664 nonsense probably null
R0044:9830107B12Rik UTSW 17 48146186 utr 5 prime probably benign
R4613:9830107B12Rik UTSW 17 48128557 missense probably benign 0.15
R5984:9830107B12Rik UTSW 17 48128555 missense probably benign 0.00
R7565:9830107B12Rik UTSW 17 48145579 missense possibly damaging 0.76
R8070:9830107B12Rik UTSW 17 48145510 missense probably damaging 1.00
Posted On2014-05-07