Incidental Mutation 'IGL01400:Apol11b'
ID278339
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apol11b
Ensembl Gene ENSMUSG00000091694
Gene Nameapolipoprotein L 11b
SynonymsA330102K04Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL01400
Quality Score
Status
Chromosome15
Chromosomal Location77633946-77643286 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 77638019 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 26 (T26M)
Ref Sequence ENSEMBL: ENSMUSP00000137890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166623] [ENSMUST00000180949] [ENSMUST00000181154] [ENSMUST00000181467]
Predicted Effect probably damaging
Transcript: ENSMUST00000166623
AA Change: T26M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129476
Gene: ENSMUSG00000091694
AA Change: T26M

DomainStartEndE-ValueType
Pfam:ApoL 30 311 8.6e-78 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000180949
AA Change: T26M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137890
Gene: ENSMUSG00000091694
AA Change: T26M

DomainStartEndE-ValueType
Pfam:ApoL 29 323 5.1e-76 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000181154
AA Change: T26M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137798
Gene: ENSMUSG00000091694
AA Change: T26M

DomainStartEndE-ValueType
Pfam:ApoL 29 76 5.4e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181467
SMART Domains Protein: ENSMUSP00000138009
Gene: ENSMUSG00000091694

DomainStartEndE-ValueType
Pfam:ApoL 1 144 2.3e-15 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A T 5: 99,243,101 I133N probably damaging Het
Abl2 T G 1: 156,635,184 C510G probably damaging Het
Ambp T C 4: 63,152,722 Y40C probably damaging Het
Arfgef3 G A 10: 18,652,706 A311V probably damaging Het
Cass4 A G 2: 172,427,300 D434G probably damaging Het
Cep250 A C 2: 155,998,291 T2390P possibly damaging Het
Cpm C A 10: 117,659,775 N56K probably benign Het
Cspp1 T C 1: 10,085,931 L455P probably damaging Het
Dcx T C X: 143,931,154 K51E possibly damaging Het
Ehd3 T C 17: 73,828,094 F322L probably benign Het
Ell A G 8: 70,578,913 D87G probably damaging Het
Epor C T 9: 21,959,439 probably null Het
Exosc10 T G 4: 148,565,271 M386R probably damaging Het
Gm1966 T A 7: 106,602,035 E667D probably benign Het
Gpr152 T C 19: 4,143,627 I389T probably benign Het
Kmo T A 1: 175,655,095 D328E possibly damaging Het
Llgl1 A G 11: 60,706,490 H255R probably damaging Het
Lrch3 T A 16: 32,979,541 H416Q probably damaging Het
Malrd1 G A 2: 16,101,957 probably null Het
Mdm1 T G 10: 118,157,251 H320Q probably damaging Het
Nol4 T A 18: 22,823,498 H209L probably damaging Het
Olfr482 A T 7: 108,094,839 C244S probably damaging Het
Pcdhac2 T C 18: 37,146,286 V773A possibly damaging Het
Pde3a A G 6: 141,459,228 N393S probably benign Het
Pik3r5 A G 11: 68,494,547 K700R probably benign Het
Prob1 G A 18: 35,653,333 R623C possibly damaging Het
Slc14a2 T C 18: 78,192,213 N112D probably damaging Het
Snapc3 C T 4: 83,450,177 P304S probably damaging Het
Spin2c T A X: 153,833,625 W145R probably damaging Het
Tmem131l T C 3: 83,922,122 E1075G probably damaging Het
Trip12 C T 1: 84,751,978 R995Q probably damaging Het
Trpm6 T A 19: 18,825,794 L867* probably null Het
Vmn1r87 T G 7: 13,132,303 H19P probably damaging Het
Vps16 A G 2: 130,438,353 E139G possibly damaging Het
Other mutations in Apol11b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01294:Apol11b APN 15 77638019 missense probably damaging 0.99
IGL01295:Apol11b APN 15 77638019 missense probably damaging 0.99
IGL01398:Apol11b APN 15 77638019 missense probably damaging 0.99
IGL01399:Apol11b APN 15 77638019 missense probably damaging 0.99
IGL01402:Apol11b APN 15 77638019 missense probably damaging 0.99
R1815:Apol11b UTSW 15 77635572 missense probably damaging 1.00
R2327:Apol11b UTSW 15 77637953 missense probably damaging 0.97
R3917:Apol11b UTSW 15 77635304 missense probably benign 0.03
R4424:Apol11b UTSW 15 77637933 critical splice donor site probably null
R4766:Apol11b UTSW 15 77634933 missense probably benign 0.00
R4804:Apol11b UTSW 15 77635266 missense probably damaging 1.00
R5440:Apol11b UTSW 15 77635593 nonsense probably null
R5600:Apol11b UTSW 15 77635088 missense probably damaging 0.97
R5866:Apol11b UTSW 15 77640547 missense probably null 0.97
R5997:Apol11b UTSW 15 77635497 missense probably benign 0.01
R6213:Apol11b UTSW 15 77638000 missense possibly damaging 0.82
R6249:Apol11b UTSW 15 77635337 missense probably benign 0.00
R6364:Apol11b UTSW 15 77638058 missense possibly damaging 0.46
R6984:Apol11b UTSW 15 77635346 missense probably benign 0.01
R8064:Apol11b UTSW 15 77635217 missense not run
Z1088:Apol11b UTSW 15 77638007 missense probably benign 0.17
Z1176:Apol11b UTSW 15 77638007 missense probably benign 0.17
Z1177:Apol11b UTSW 15 77638007 missense probably benign 0.17
Posted On2015-04-16