Incidental Mutation 'IGL00500:Ankrd34b'
ID278538
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd34b
Ensembl Gene ENSMUSG00000045034
Gene Nameankyrin repeat domain 34B
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL00500
Quality Score
Status
Chromosome13
Chromosomal Location92425896-92441658 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 92438787 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 176 (G176R)
Ref Sequence ENSEMBL: ENSMUSP00000126289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061594] [ENSMUST00000165225] [ENSMUST00000168871]
Predicted Effect probably benign
Transcript: ENSMUST00000061594
AA Change: G176R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000054330
Gene: ENSMUSG00000045034
AA Change: G176R

DomainStartEndE-ValueType
ANK 9 38 1.96e3 SMART
ANK 42 79 2.85e-5 SMART
ANK 83 113 1.9e-1 SMART
ANK 117 146 1.99e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165225
Predicted Effect probably benign
Transcript: ENSMUST00000168871
AA Change: G176R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000126289
Gene: ENSMUSG00000045034
AA Change: G176R

DomainStartEndE-ValueType
ANK 9 38 1.96e3 SMART
ANK 42 79 2.85e-5 SMART
ANK 83 113 1.9e-1 SMART
ANK 117 146 1.99e2 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 A G 7: 119,784,344 E576G probably damaging Het
Adnp A G 2: 168,183,323 V684A possibly damaging Het
Agl A G 3: 116,772,820 W965R probably damaging Het
AI467606 G A 7: 127,092,333 V27I probably benign Het
Atp2a1 C T 7: 126,447,216 W72* probably null Het
Atp6v1a T C 16: 44,111,583 Q114R probably benign Het
B4galt2 A T 4: 117,877,181 L257Q probably damaging Het
Chrna10 A T 7: 102,112,408 C325* probably null Het
Clip2 A G 5: 134,500,157 probably benign Het
Crocc2 C T 1: 93,217,044 Q1437* probably null Het
Csmd1 C T 8: 15,921,139 V3059M probably damaging Het
Cst10 C A 2: 149,405,581 S72R probably damaging Het
Dapk1 A G 13: 60,760,804 D1077G probably damaging Het
Dhx9 T C 1: 153,465,748 T585A probably damaging Het
Fam210a G A 18: 68,275,783 T152I possibly damaging Het
Fbn1 T A 2: 125,317,516 Q2214L probably damaging Het
Fpr1 T A 17: 17,877,001 Q242L probably benign Het
G2e3 A G 12: 51,353,798 probably null Het
Gcdh C T 8: 84,888,517 probably benign Het
Gm18856 T C 13: 13,965,734 probably benign Het
Itgb2 T A 10: 77,564,724 W724R probably damaging Het
Klhl2 T C 8: 64,749,086 T519A probably benign Het
Krtap12-1 G T 10: 77,720,980 C119F possibly damaging Het
Nrap T A 19: 56,372,909 K369N probably damaging Het
Nrg1 T A 8: 31,822,314 probably null Het
Plekhh3 T A 11: 101,165,693 probably null Het
Ppm1b A G 17: 85,003,284 S289G probably damaging Het
Prol1 A T 5: 88,328,691 *313C probably null Het
Rab40c T C 17: 25,885,085 E111G probably damaging Het
Skint11 T A 4: 114,194,709 C85S probably benign Het
Slc9a2 G A 1: 40,763,583 E598K possibly damaging Het
Slfn8 T A 11: 83,013,484 D360V possibly damaging Het
Sspo C A 6: 48,497,421 C4925* probably null Het
Vps8 A G 16: 21,442,334 T75A possibly damaging Het
Wfdc12 A T 2: 164,190,250 I40N probably damaging Het
Zfp608 T A 18: 54,988,333 T61S probably benign Het
Other mutations in Ankrd34b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02684:Ankrd34b APN 13 92438508 missense probably damaging 0.99
IGL02695:Ankrd34b APN 13 92439612 missense possibly damaging 0.91
IGL03302:Ankrd34b APN 13 92439643 missense possibly damaging 0.90
R0143:Ankrd34b UTSW 13 92439760 missense probably damaging 1.00
R1874:Ankrd34b UTSW 13 92439556 missense probably damaging 0.99
R2138:Ankrd34b UTSW 13 92439406 missense probably damaging 0.97
R2504:Ankrd34b UTSW 13 92439061 splice site probably null
R4782:Ankrd34b UTSW 13 92438305 missense probably damaging 0.98
R6123:Ankrd34b UTSW 13 92439076 missense probably damaging 1.00
R7159:Ankrd34b UTSW 13 92439462 missense probably benign 0.00
R7238:Ankrd34b UTSW 13 92438631 missense possibly damaging 0.77
R7367:Ankrd34b UTSW 13 92438287 missense probably benign 0.00
R8005:Ankrd34b UTSW 13 92438722 missense possibly damaging 0.61
R8297:Ankrd34b UTSW 13 92439589 missense probably damaging 1.00
Posted On2015-04-16