Incidental Mutation 'IGL02684:Ankrd34b'
ID303487
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 #IGL02684
Quality Score
Status
Chromosome13
Chromosomal Location92425896-92441658 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 92438508 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 83 (S83P)
Ref Sequence ENSEMBL: ENSMUSP00000126289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061594] [ENSMUST00000165225] [ENSMUST00000168871]
Predicted Effect probably damaging
Transcript: ENSMUST00000061594
AA Change: S83P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000054330
Gene: ENSMUSG00000045034
AA Change: S83P

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 damaging
Transcript: ENSMUST00000168871
AA Change: S83P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126289
Gene: ENSMUSG00000045034
AA Change: S83P

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik A T 14: 35,810,063 L185* probably null Het
Actrt3 A T 3: 30,599,691 D53E probably benign Het
Asap1 A G 15: 64,094,169 V1029A probably benign Het
Blk T C 14: 63,379,694 E288G probably benign Het
Cep192 T G 18: 67,834,563 V706G probably damaging Het
Chd2 T C 7: 73,475,349 K908E probably damaging Het
Dnm1l A T 16: 16,321,657 I391N possibly damaging Het
Fam84a T C 12: 14,150,645 D27G probably damaging Het
Fmn1 A G 2: 113,525,277 R688G unknown Het
Gdap2 A G 3: 100,171,020 D100G probably benign Het
Gm43638 T C 5: 87,462,910 I522V possibly damaging Het
Gm438 A G 4: 144,778,185 probably benign Het
Gsap A T 5: 21,242,803 probably null Het
Hoxd12 A G 2: 74,675,561 S159G probably benign Het
Ints7 A G 1: 191,613,637 probably null Het
Iqsec3 G A 6: 121,412,941 Q524* probably null Het
Klra10 T A 6: 130,281,882 H14L possibly damaging Het
Mettl15 T C 2: 109,131,580 E228G probably damaging Het
Olfr466 G A 13: 65,152,396 M57I probably damaging Het
Olfr624 T C 7: 103,670,384 M216V probably benign Het
Pabpc1l A G 2: 164,031,277 N156D probably benign Het
Pkhd1l1 G T 15: 44,516,209 probably null Het
Pm20d1 T A 1: 131,804,959 N345K probably benign Het
Rasgrp1 A G 2: 117,282,576 V785A probably benign Het
Sos2 A G 12: 69,596,666 L980S probably damaging Het
Stam2 A T 2: 52,719,935 H56Q probably damaging Het
Trpm6 T A 19: 18,802,207 probably benign Het
Trpm7 A T 2: 126,846,159 D249E probably damaging Het
Vmn1r203 A T 13: 22,524,369 T107S possibly damaging Het
Vmn2r55 A G 7: 12,670,960 L172P probably damaging Het
Vrtn A G 12: 84,650,149 R558G probably benign Het
Zfp977 A T 7: 42,583,015 D7E probably damaging Het
Other mutations in Ankrd34b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Ankrd34b APN 13 92438787 missense probably benign 0.00
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 unclassified 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
Posted On2015-04-16