Incidental Mutation 'IGL01802:Ttc39a'
ID155547
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc39a
Ensembl Gene ENSMUSG00000028555
Gene Nametetratricopeptide repeat domain 39A
Synonyms4922503N01Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01802
Quality Score
Status
Chromosome4
Chromosomal Location109406623-109444745 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 109433084 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 330 (Y330*)
Ref Sequence ENSEMBL: ENSMUSP00000102229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064129] [ENSMUST00000106618] [ENSMUST00000124209] [ENSMUST00000153315]
Predicted Effect probably null
Transcript: ENSMUST00000064129
AA Change: Y328*
SMART Domains Protein: ENSMUSP00000066334
Gene: ENSMUSG00000028555
AA Change: Y328*

DomainStartEndE-ValueType
TPR 278 311 7.69e1 SMART
TPR 468 501 6.57e1 SMART
TPR 509 542 1.42e0 SMART
Predicted Effect probably null
Transcript: ENSMUST00000106618
AA Change: Y330*
SMART Domains Protein: ENSMUSP00000102229
Gene: ENSMUSG00000028555
AA Change: Y330*

DomainStartEndE-ValueType
TPR 280 313 7.69e1 SMART
TPR 470 503 6.57e1 SMART
TPR 511 544 1.42e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124209
SMART Domains Protein: ENSMUSP00000118672
Gene: ENSMUSG00000028555

DomainStartEndE-ValueType
Pfam:DUF3808 1 137 6.6e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153315
SMART Domains Protein: ENSMUSP00000117621
Gene: ENSMUSG00000028555

DomainStartEndE-ValueType
Pfam:DUF3808 1 160 2.6e-53 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,292,438 M1434L probably benign Het
Acta2 T A 19: 34,243,436 I291F possibly damaging Het
Arhgap10 A G 8: 77,420,085 I230T probably damaging Het
Copb1 A C 7: 114,226,776 S658A probably benign Het
Crtc3 A T 7: 80,604,368 C244* probably null Het
Cyp4a14 G A 4: 115,494,937 R93* probably null Het
Dclk2 A G 3: 86,799,027 F586L probably damaging Het
Dmtn G T 14: 70,604,819 F358L probably damaging Het
Enam A T 5: 88,503,674 H1014L possibly damaging Het
Ercc6 A G 14: 32,562,574 T765A probably damaging Het
Gtf3c4 T C 2: 28,834,080 K547E probably damaging Het
Hdc G T 2: 126,603,894 A230D probably benign Het
Hipk3 A T 2: 104,471,853 probably benign Het
Kidins220 A G 12: 24,995,000 I264M probably damaging Het
Lrp1b C T 2: 41,511,482 V387I probably benign Het
Mmp8 T G 9: 7,567,440 F434V probably benign Het
Nr3c2 C A 8: 76,908,595 Y108* probably null Het
Olfr1475 T C 19: 13,479,365 M278V probably benign Het
Olfr729 T G 14: 50,148,716 S53R probably benign Het
Pnpt1 A T 11: 29,154,306 D560V probably damaging Het
Rbbp8nl T C 2: 180,279,695 S299G probably benign Het
Rnf165 A T 18: 77,462,914 L106Q probably damaging Het
Slc9a4 A T 1: 40,607,798 N484I probably damaging Het
Sncaip C T 18: 52,869,037 S210F probably damaging Het
Tiam1 G T 16: 89,898,372 Q66K possibly damaging Het
Ush2a T G 1: 188,436,957 D1098E probably damaging Het
Vmn2r103 A G 17: 19,799,208 E518G probably benign Het
Other mutations in Ttc39a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00870:Ttc39a APN 4 109442345 splice site probably benign
IGL01143:Ttc39a APN 4 109442813 critical splice donor site probably null
IGL01906:Ttc39a APN 4 109421394 missense probably benign 0.04
IGL02115:Ttc39a APN 4 109426294 splice site probably benign
IGL02415:Ttc39a APN 4 109431529 unclassified probably benign
IGL02658:Ttc39a APN 4 109422893 missense probably damaging 1.00
IGL02728:Ttc39a APN 4 109442723 missense probably damaging 1.00
IGL03281:Ttc39a APN 4 109433022 missense possibly damaging 0.84
R0030:Ttc39a UTSW 4 109422973 missense probably benign
R0103:Ttc39a UTSW 4 109421453 intron probably null
R0194:Ttc39a UTSW 4 109444179 missense probably benign
R0561:Ttc39a UTSW 4 109440602 missense probably damaging 1.00
R0603:Ttc39a UTSW 4 109426302 missense probably damaging 1.00
R2132:Ttc39a UTSW 4 109442706 missense probably damaging 1.00
R2203:Ttc39a UTSW 4 109431588 missense probably benign 0.19
R2473:Ttc39a UTSW 4 109442239 missense probably damaging 0.97
R4449:Ttc39a UTSW 4 109442303 missense possibly damaging 0.82
R4809:Ttc39a UTSW 4 109416021 nonsense probably null
R5266:Ttc39a UTSW 4 109422504 missense probably benign 0.04
R5590:Ttc39a UTSW 4 109432987 critical splice acceptor site probably null
R5911:Ttc39a UTSW 4 109422971 missense possibly damaging 0.79
R5930:Ttc39a UTSW 4 109430878 missense probably benign
R7058:Ttc39a UTSW 4 109431566 missense probably damaging 1.00
R7771:Ttc39a UTSW 4 109431450 missense probably damaging 1.00
R7791:Ttc39a UTSW 4 109426347 missense probably benign 0.00
R7849:Ttc39a UTSW 4 109422490 missense probably benign 0.00
R7932:Ttc39a UTSW 4 109422490 missense probably benign 0.00
X0013:Ttc39a UTSW 4 109433137 missense probably benign 0.02
Posted On2014-02-04