Incidental Mutation 'IGL02074:Ankrd33b'
ID185937
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd33b
Ensembl Gene ENSMUSG00000022237
Gene Nameankyrin repeat domain 33B
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL02074
Quality Score
Status
Chromosome15
Chromosomal Location31291478-31367726 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 31297661 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 317 (V317F)
Ref Sequence ENSEMBL: ENSMUSP00000118984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044324] [ENSMUST00000110410] [ENSMUST00000123325] [ENSMUST00000156679]
Predicted Effect probably benign
Transcript: ENSMUST00000044324
SMART Domains Protein: ENSMUSP00000037918
Gene: ENSMUSG00000022237

DomainStartEndE-ValueType
Blast:ANK 81 109 2e-10 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000110410
AA Change: V308F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106040
Gene: ENSMUSG00000022237
AA Change: V308F

DomainStartEndE-ValueType
Blast:ANK 81 106 5e-6 BLAST
ANK 107 137 2.32e2 SMART
ANK 141 170 8.86e-2 SMART
ANK 176 205 1.59e-3 SMART
ANK 210 240 1.27e3 SMART
low complexity region 363 382 N/A INTRINSIC
low complexity region 388 410 N/A INTRINSIC
coiled coil region 440 470 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000123325
AA Change: V317F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118984
Gene: ENSMUSG00000022237
AA Change: V317F

DomainStartEndE-ValueType
Blast:ANK 81 109 5e-9 BLAST
ANK 116 146 6.51e0 SMART
ANK 150 179 8.86e-2 SMART
ANK 185 214 1.59e-3 SMART
ANK 219 249 1.27e3 SMART
low complexity region 372 391 N/A INTRINSIC
low complexity region 397 419 N/A INTRINSIC
coiled coil region 449 479 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156679
SMART Domains Protein: ENSMUSP00000117974
Gene: ENSMUSG00000022237

DomainStartEndE-ValueType
Blast:ANK 81 109 1e-9 BLAST
ANK 116 146 6.51e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227867
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,293,350 S974G probably benign Het
Abi2 T C 1: 60,447,307 V209A probably damaging Het
Arcn1 A G 9: 44,759,012 C106R probably benign Het
Arhgap35 T C 7: 16,563,055 H695R probably benign Het
Bag4 G T 8: 25,769,355 T272K possibly damaging Het
Cnot6 T C 11: 49,689,243 H74R probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dab1 C A 4: 104,727,854 A397D possibly damaging Het
Dhrs7b C A 11: 60,851,754 Q91K probably benign Het
Dixdc1 C T 9: 50,702,017 V212M probably benign Het
Eea1 A G 10: 96,037,487 E1137G probably damaging Het
Ercc8 T C 13: 108,158,784 probably benign Het
Fam163b C T 2: 27,113,558 C28Y probably damaging Het
Fgd6 A T 10: 94,127,435 I1132F probably damaging Het
Grin1 C T 2: 25,298,502 V432I possibly damaging Het
Herc1 A G 9: 66,450,983 S2449G probably benign Het
Herc2 T A 7: 56,087,444 probably benign Het
L1cam A G X: 73,863,013 W275R probably damaging Het
Lrrc6 T C 15: 66,489,490 N54S probably damaging Het
Magi1 A G 6: 93,745,598 V660A probably damaging Het
Mctp2 A T 7: 72,161,258 I656K probably damaging Het
Mtcl1 T C 17: 66,366,468 D633G possibly damaging Het
Nexmif A T X: 104,087,891 M140K probably damaging Het
Olfr543 G T 7: 102,477,472 H133N probably benign Het
Olfr853 A T 9: 19,537,852 I26N possibly damaging Het
Olfr930 A T 9: 38,930,683 T171S probably benign Het
R3hdm1 A G 1: 128,169,038 T146A possibly damaging Het
Rnf123 A T 9: 108,066,889 L508Q probably damaging Het
Scaf4 G T 16: 90,242,920 P812T unknown Het
Slc45a2 A G 15: 11,000,817 M1V probably null Het
Ttr T C 18: 20,666,523 V46A probably benign Het
Ubxn8 T C 8: 33,623,178 K216R possibly damaging Het
Vmn2r109 T C 17: 20,554,341 I251V probably benign Het
Xlr A T X: 53,796,134 probably benign Het
Zfp142 T G 1: 74,569,863 H1488P probably damaging Het
Other mutations in Ankrd33b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02031:Ankrd33b APN 15 31325183 missense probably damaging 1.00
IGL02120:Ankrd33b APN 15 31367056 missense possibly damaging 0.91
Opposition UTSW 15 31325085 critical splice donor site probably null
R0046:Ankrd33b UTSW 15 31367337 missense probably damaging 1.00
R0082:Ankrd33b UTSW 15 31297789 missense probably benign 0.00
R0357:Ankrd33b UTSW 15 31305126 missense probably benign 0.02
R0518:Ankrd33b UTSW 15 31367286 missense probably damaging 0.99
R0521:Ankrd33b UTSW 15 31367286 missense probably damaging 0.99
R1512:Ankrd33b UTSW 15 31367229 missense probably damaging 1.00
R1708:Ankrd33b UTSW 15 31305009 missense probably damaging 1.00
R1818:Ankrd33b UTSW 15 31367121 missense probably damaging 0.96
R2005:Ankrd33b UTSW 15 31297668 missense probably damaging 1.00
R4648:Ankrd33b UTSW 15 31325024 makesense probably null
R5391:Ankrd33b UTSW 15 31325206 missense probably damaging 0.99
R6292:Ankrd33b UTSW 15 31325085 critical splice donor site probably null
R6639:Ankrd33b UTSW 15 31297672 missense probably damaging 1.00
R7105:Ankrd33b UTSW 15 31305068 missense probably damaging 1.00
Posted On2014-05-07