Incidental Mutation 'IGL01135:Tent5a'
ID 51984
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tent5a
Ensembl Gene ENSMUSG00000032265
Gene Name terminal nucleotidyltransferase 5A
Synonyms Fam46a, BAP014, D930050G01Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.341) question?
Stock # IGL01135
Quality Score
Status
Chromosome 9
Chromosomal Location 85202492-85209203 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85208652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 57 (V57A)
Ref Sequence ENSEMBL: ENSMUSP00000140869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034802] [ENSMUST00000187711]
AlphaFold D3Z5S8
Predicted Effect probably damaging
Transcript: ENSMUST00000034802
AA Change: V76A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034802
Gene: ENSMUSG00000032265
AA Change: V76A

DomainStartEndE-ValueType
low complexity region 43 55 N/A INTRINSIC
DUF1693 71 389 8.01e-244 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000187711
AA Change: V57A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140869
Gene: ENSMUSG00000032265
AA Change: V57A

DomainStartEndE-ValueType
low complexity region 24 36 N/A INTRINSIC
DUF1693 52 370 3.9e-248 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for an ENU-induced allele show partial lethality, high alkaline phosphatase (ALP) activity, short stature, and limb, long bone, rib, pelvis and skull anomalies, with absent trabeculae and reduced cortical thickness in long bones. Heterozygotes show high ALP activity but no other defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
5730507C01Rik G A 12: 18,583,375 (GRCm39) R145H possibly damaging Het
Acox3 T A 5: 35,746,096 (GRCm39) V93E probably benign Het
Ankar T C 1: 72,704,378 (GRCm39) N848S probably benign Het
Blzf1 A G 1: 164,131,499 (GRCm39) probably benign Het
Cc2d1a G T 8: 84,870,033 (GRCm39) H161N probably benign Het
Ceacam23 A T 7: 17,636,396 (GRCm39) noncoding transcript Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Ckmt1 A C 2: 121,191,631 (GRCm39) D267A probably damaging Het
Dtl G T 1: 191,280,442 (GRCm39) T364K probably damaging Het
Fat1 T A 8: 45,477,877 (GRCm39) F2308I probably damaging Het
Fbxo41 A T 6: 85,454,890 (GRCm39) S673T probably benign Het
Flnb G A 14: 7,909,736 (GRCm38) V1397I probably benign Het
Gdi2 A G 13: 3,598,855 (GRCm39) probably benign Het
Grik3 C T 4: 125,526,208 (GRCm39) T147I probably benign Het
Htr1a T C 13: 105,581,792 (GRCm39) V344A possibly damaging Het
Isg20l2 A T 3: 87,839,068 (GRCm39) D93V probably damaging Het
Kcnt2 T C 1: 140,282,293 (GRCm39) probably null Het
Mfsd4b3-ps A G 10: 39,824,068 (GRCm39) M64T probably benign Het
Nox3 T A 17: 3,746,527 (GRCm39) probably benign Het
Or2ag12 C T 7: 106,277,400 (GRCm39) A98T probably benign Het
Pikfyve T A 1: 65,290,794 (GRCm39) N1204K probably damaging Het
Pou4f3 C T 18: 42,529,031 (GRCm39) Q325* probably null Het
Rap1a T A 3: 105,639,351 (GRCm39) T103S probably benign Het
Rfc4 G A 16: 22,934,526 (GRCm39) R165C probably damaging Het
Smtnl1 A G 2: 84,649,231 (GRCm39) S8P probably benign Het
Syt17 C T 7: 117,981,270 (GRCm39) G351S possibly damaging Het
Tcf20 T A 15: 82,738,101 (GRCm39) M1117L probably benign Het
Tgfbr3 A T 5: 107,362,894 (GRCm39) H39Q probably damaging Het
Trdmt1 T C 2: 13,526,071 (GRCm39) probably null Het
Twf2 A G 9: 106,090,027 (GRCm39) I127V probably benign Het
Unc13c A G 9: 73,392,175 (GRCm39) V2059A probably damaging Het
Other mutations in Tent5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Tent5a APN 9 85,206,806 (GRCm39) missense possibly damaging 0.94
IGL01724:Tent5a APN 9 85,207,103 (GRCm39) missense probably damaging 0.99
IGL02798:Tent5a APN 9 85,206,937 (GRCm39) missense probably damaging 1.00
R0482:Tent5a UTSW 9 85,207,108 (GRCm39) missense probably damaging 1.00
R2697:Tent5a UTSW 9 85,206,793 (GRCm39) missense possibly damaging 0.48
R4458:Tent5a UTSW 9 85,208,527 (GRCm39) missense possibly damaging 0.75
R4494:Tent5a UTSW 9 85,207,100 (GRCm39) missense probably damaging 0.99
R5245:Tent5a UTSW 9 85,208,401 (GRCm39) missense possibly damaging 0.46
R6539:Tent5a UTSW 9 85,208,614 (GRCm39) missense possibly damaging 0.75
R6622:Tent5a UTSW 9 85,208,509 (GRCm39) missense probably damaging 0.99
R7253:Tent5a UTSW 9 85,208,770 (GRCm39) missense probably benign 0.01
R7317:Tent5a UTSW 9 85,206,670 (GRCm39) missense possibly damaging 0.81
R8554:Tent5a UTSW 9 85,208,784 (GRCm39) missense possibly damaging 0.85
R8770:Tent5a UTSW 9 85,208,803 (GRCm39) missense probably benign 0.01
R9231:Tent5a UTSW 9 85,208,388 (GRCm39) missense possibly damaging 0.82
R9357:Tent5a UTSW 9 85,208,672 (GRCm39) missense probably benign 0.15
R9604:Tent5a UTSW 9 85,206,677 (GRCm39) missense probably benign 0.16
R9708:Tent5a UTSW 9 85,207,267 (GRCm39) missense possibly damaging 0.88
Posted On 2013-06-21