Incidental Mutation 'R6292:Ankrd33b'
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ID508517
Institutional Source Beutler Lab
Gene Symbol Ankrd33b
Ensembl Gene ENSMUSG00000022237
Gene Nameankyrin repeat domain 33B
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #R6292 (G1)
Quality Score225.009
Status Validated
Chromosome15
Chromosomal Location31291478-31367726 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 31325085 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044324] [ENSMUST00000076942] [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 benign
Transcript: ENSMUST00000076942
SMART Domains Protein: ENSMUSP00000076209
Gene: ENSMUSG00000022237

DomainStartEndE-ValueType
Blast:ANK 81 109 2e-10 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000110410
SMART Domains Protein: ENSMUSP00000106040
Gene: ENSMUSG00000022237

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 null
Transcript: ENSMUST00000123325
SMART Domains Protein: ENSMUSP00000118984
Gene: ENSMUSG00000022237

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: ENSMUST00000227391
Meta Mutation Damage Score 0.9595 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.5%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T A 5: 114,200,251 V709E probably damaging Het
Apaf1 T C 10: 90,991,563 T1202A possibly damaging Het
Apip G T 2: 103,092,467 C210F probably benign Het
Chd9 A T 8: 90,932,922 H170L probably benign Het
Clec16a T C 16: 10,560,151 probably null Het
Ep300 T A 15: 81,616,734 probably benign Het
Etl4 C T 2: 20,743,573 H39Y probably damaging Het
Gdap1l1 A T 2: 163,451,507 I218F probably damaging Het
Gm5141 A T 13: 62,774,438 C306S probably damaging Het
Gm9961 C T 16: 11,930,472 noncoding transcript Het
Gpr27 C T 6: 99,693,658 S327L possibly damaging Het
Hectd3 A C 4: 116,998,808 T435P probably damaging Het
Hs3st1 T A 5: 39,614,790 Q170L possibly damaging Het
Hykk T C 9: 54,920,826 probably null Het
Lilra5 T C 7: 4,238,339 S92P possibly damaging Het
Lrig1 A T 6: 94,616,445 N418K probably damaging Het
Miga1 A G 3: 152,317,719 F232L probably benign Het
Mkrn2 T A 6: 115,613,334 M217K probably damaging Het
Myh7b A T 2: 155,632,396 Q1677L probably damaging Het
N4bp1 T C 8: 86,853,239 E645G probably damaging Het
Nckap5 T C 1: 125,915,015 K1752E probably damaging Het
Nek1 A G 8: 61,054,736 probably null Het
Ntng1 T C 3: 110,143,886 probably benign Het
Nup133 A G 8: 123,917,437 V730A probably benign Het
Olfr314 T A 11: 58,786,237 M1K probably null Het
Olfr620 T A 7: 103,612,179 H58L probably damaging Het
Paqr6 C T 3: 88,367,898 P213S probably damaging Het
Pign A T 1: 105,585,077 V627D possibly damaging Het
Rasal1 T A 5: 120,659,620 V139E probably damaging Het
Scgb1b24 G T 7: 33,744,152 A79S possibly damaging Het
Slc25a28 T C 19: 43,664,592 D210G probably benign Het
Slc38a3 A T 9: 107,655,154 I393N possibly damaging Het
Slc41a2 T C 10: 83,254,926 N465D probably damaging Het
Slc5a5 G A 8: 70,891,178 T160I probably damaging Het
Smarca2 C T 19: 26,630,892 A117V probably damaging Het
Sorcs2 C T 5: 36,062,587 R371H probably damaging Het
Taf4 A G 2: 179,923,987 S872P probably damaging Het
Tdrd3 G T 14: 87,506,254 C540F probably benign Het
Thumpd1 A T 7: 119,720,674 L23Q probably benign Het
Top1 A T 2: 160,698,141 Y213F probably benign Het
Txndc5 T C 13: 38,528,184 probably null Het
Unc79 C A 12: 103,142,732 A2005D possibly damaging Het
Upb1 T C 10: 75,438,171 L344P probably damaging Het
Vmn1r72 T A 7: 11,669,652 S290C probably benign Het
Vmn2r103 A G 17: 19,793,604 I219M possibly damaging Het
Wapl A G 14: 34,729,195 T729A probably damaging Het
Washc5 C T 15: 59,355,934 R393H probably damaging Het
Other mutations in Ankrd33b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02031:Ankrd33b APN 15 31325183 missense probably damaging 1.00
IGL02074:Ankrd33b APN 15 31297661 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
R6639:Ankrd33b UTSW 15 31297672 missense probably damaging 1.00
R7105:Ankrd33b UTSW 15 31305068 missense probably damaging 1.00
R7742:Ankrd33b UTSW 15 31367392 start codon destroyed probably null 0.77
R8431:Ankrd33b UTSW 15 31305102 missense probably damaging 1.00
Z1177:Ankrd33b UTSW 15 31305133 critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- GCTAAGTGTGCTGTTCCAAG -3'
(R):5'- AAGACAGCTGTTCCCCTCAG -3'

Sequencing Primer
(F):5'- GCTGTTCCAAGAGCACACAGAG -3'
(R):5'- AGCTCACTGATAACGCTTGG -3'
Posted On2018-03-15