Incidental Mutation 'IGL02805:Ankdd1b'
ID360365
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankdd1b
Ensembl Gene ENSMUSG00000047117
Gene Nameankyrin repeat and death domain containing 1B
Synonyms9330128J19Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL02805
Quality Score
Status
Chromosome13
Chromosomal Location96416134-96471198 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 96444302 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 163 (S163P)
Ref Sequence ENSEMBL: ENSMUSP00000061643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055607]
Predicted Effect probably benign
Transcript: ENSMUST00000055607
AA Change: S163P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000061643
Gene: ENSMUSG00000047117
AA Change: S163P

DomainStartEndE-ValueType
ANK 4 33 2.54e-2 SMART
ANK 37 66 6.36e-3 SMART
ANK 70 101 5.09e-2 SMART
ANK 105 137 1.07e0 SMART
ANK 138 167 1.27e-2 SMART
ANK 171 200 3.65e-3 SMART
ANK 204 233 2.99e1 SMART
ANK 237 266 4.07e-1 SMART
ANK 270 299 6.92e-4 SMART
ANK 303 335 1.76e2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181074
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181613
SMART Domains Protein: ENSMUSP00000137862
Gene: ENSMUSG00000047117

DomainStartEndE-ValueType
ANK 56 89 6.6e0 SMART
ANK 93 122 3.9e-5 SMART
ANK 126 157 3.3e-4 SMART
ANK 161 193 7e-3 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,223,133 probably benign Het
Ap5z1 G A 5: 142,470,283 probably benign Het
Asb14 A G 14: 26,901,187 N172S possibly damaging Het
Avil G A 10: 127,007,617 V139I possibly damaging Het
C130073F10Rik A T 4: 101,890,974 M1K probably null Het
Ccdc189 T C 7: 127,586,394 D121G possibly damaging Het
Ccdc33 T A 9: 58,098,591 I37F probably benign Het
Ccdc9 T C 7: 16,275,274 M550V probably benign Het
Cgn T A 3: 94,774,377 L469F probably damaging Het
Dnaaf3 C T 7: 4,523,705 G458R possibly damaging Het
Dscaml1 T A 9: 45,447,897 N151K probably damaging Het
Dsel A G 1: 111,862,316 V163A probably damaging Het
Dusp27 T C 1: 166,099,061 E994G probably damaging Het
Epg5 A G 18: 78,030,191 probably benign Het
Fanca A T 8: 123,289,494 I670N probably damaging Het
Fsip2 T C 2: 82,993,495 V6524A probably benign Het
Gm10985 T C 3: 53,845,093 probably null Het
Gm1818 C T 12: 48,555,735 noncoding transcript Het
Hars2 C T 18: 36,787,577 R158* probably null Het
Htr5b A G 1: 121,527,888 V101A probably damaging Het
Ipp A G 4: 116,529,688 I356V possibly damaging Het
Itga8 T A 2: 12,189,480 N703I possibly damaging Het
Olfr147 T A 9: 38,403,836 probably benign Het
Ppp6r3 T C 19: 3,492,428 N406D probably benign Het
Rbbp6 G A 7: 123,001,188 probably benign Het
Rgs7 T C 1: 175,149,696 Y114C probably damaging Het
Ripor1 A G 8: 105,617,571 T446A probably damaging Het
Rnf213 A G 11: 119,435,066 D1562G probably damaging Het
Scaf11 A T 15: 96,420,182 D500E possibly damaging Het
Spock1 A G 13: 57,907,577 I4T possibly damaging Het
Srebf2 C A 15: 82,169,844 N35K probably benign Het
Srgap3 G T 6: 112,727,263 H922N probably damaging Het
Stk32c A C 7: 139,121,846 H112Q probably damaging Het
Thumpd3 A G 6: 113,066,797 D391G probably damaging Het
Vmn2r38 T A 7: 9,075,547 H612L probably damaging Het
Vsig10l T G 7: 43,465,242 I289S probably damaging Het
Wwox G A 8: 114,712,013 G273E probably damaging Het
Zscan4d T G 7: 11,164,970 probably benign Het
Other mutations in Ankdd1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00841:Ankdd1b APN 13 96417830 unclassified probably benign
IGL00849:Ankdd1b APN 13 96420733 missense probably damaging 1.00
IGL02980:Ankdd1b UTSW 13 96435940 missense probably benign 0.01
R1454:Ankdd1b UTSW 13 96433405 splice site probably null
R1730:Ankdd1b UTSW 13 96460903 missense probably damaging 0.99
R1759:Ankdd1b UTSW 13 96419703 missense probably damaging 1.00
R4716:Ankdd1b UTSW 13 96454583 nonsense probably null
R4719:Ankdd1b UTSW 13 96417747 unclassified probably benign
R5262:Ankdd1b UTSW 13 96420773 missense probably damaging 1.00
R6329:Ankdd1b UTSW 13 96454880 missense possibly damaging 0.76
R6418:Ankdd1b UTSW 13 96460897 missense probably damaging 1.00
R6869:Ankdd1b UTSW 13 96444291 missense possibly damaging 0.77
R7126:Ankdd1b UTSW 13 96429862 missense possibly damaging 0.93
R7442:Ankdd1b UTSW 13 96424760 missense possibly damaging 0.77
R7840:Ankdd1b UTSW 13 96419798 critical splice acceptor site probably null
R7921:Ankdd1b UTSW 13 96424780 missense possibly damaging 0.86
R8328:Ankdd1b UTSW 13 96454866 missense possibly damaging 0.75
Posted On2015-12-18