Incidental Mutation 'R0561:Ttc39a'
ID 45864
Institutional Source Beutler Lab
Gene Symbol Ttc39a
Ensembl Gene ENSMUSG00000028555
Gene Name tetratricopeptide repeat domain 39A
Synonyms 4922503N01Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0561 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 109263820-109301942 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 109297799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 408 (Y408F)
Ref Sequence ENSEMBL: ENSMUSP00000066334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064129] [ENSMUST00000106618]
AlphaFold A2ACP1
Predicted Effect probably damaging
Transcript: ENSMUST00000064129
AA Change: Y408F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066334
Gene: ENSMUSG00000028555
AA Change: Y408F

DomainStartEndE-ValueType
TPR 278 311 7.69e1 SMART
TPR 468 501 6.57e1 SMART
TPR 509 542 1.42e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106618
AA Change: Y410F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102229
Gene: ENSMUSG00000028555
AA Change: Y410F

DomainStartEndE-ValueType
TPR 280 313 7.69e1 SMART
TPR 470 503 6.57e1 SMART
TPR 511 544 1.42e0 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 A G 12: 88,335,204 (GRCm39) D30G possibly damaging Het
Apc A T 18: 34,446,356 (GRCm39) H1050L possibly damaging Het
Armc2 A G 10: 41,869,188 (GRCm39) V166A probably benign Het
Atp6v1b1 A T 6: 83,730,793 (GRCm39) I173F probably damaging Het
Bpifb4 A G 2: 153,786,742 (GRCm39) D298G probably damaging Het
C4b T A 17: 34,953,391 (GRCm39) S1031C probably damaging Het
Calcr A G 6: 3,692,630 (GRCm39) I408T probably damaging Het
Catsperg1 T C 7: 28,881,737 (GRCm39) N1009S probably damaging Het
Ces2a T C 8: 105,464,165 (GRCm39) S266P probably benign Het
Chrna1 A G 2: 73,396,596 (GRCm39) V433A possibly damaging Het
Ctnnb1 G A 9: 120,780,788 (GRCm39) V291M probably damaging Het
Dcbld1 T C 10: 52,138,032 (GRCm39) Y99H probably benign Het
Ddx60 A T 8: 62,470,828 (GRCm39) H1440L possibly damaging Het
Dsg1c A T 18: 20,407,832 (GRCm39) I393L probably benign Het
Eif5 G T 12: 111,506,950 (GRCm39) R128L probably benign Het
Ercc3 A G 18: 32,378,592 (GRCm39) D191G possibly damaging Het
Gp1ba A T 11: 70,530,416 (GRCm39) probably benign Het
Krt24 C T 11: 99,175,439 (GRCm39) E199K probably damaging Het
Lrif1 G T 3: 106,639,481 (GRCm39) A164S probably damaging Het
Map2 A G 1: 66,464,656 (GRCm39) D1682G probably damaging Het
Megf8 C T 7: 25,028,257 (GRCm39) P274S probably benign Het
Mslnl C T 17: 25,962,177 (GRCm39) Q192* probably null Het
Nfkb2 T C 19: 46,298,301 (GRCm39) V535A possibly damaging Het
Or10q1 A T 19: 13,726,662 (GRCm39) Y64F probably damaging Het
Or4a66 A G 2: 88,530,914 (GRCm39) I253T possibly damaging Het
Or4c11 T A 2: 88,695,024 (GRCm39) V25E possibly damaging Het
Or7a37 T A 10: 78,805,729 (GRCm39) L82* probably null Het
Or8b37 G T 9: 37,959,123 (GRCm39) V202L probably benign Het
Or8g22 C T 9: 38,958,669 (GRCm39) M15I probably damaging Het
Pag1 T A 3: 9,764,481 (GRCm39) Y224F probably damaging Het
Pbrm1 A C 14: 30,757,948 (GRCm39) I193L probably benign Het
Phrf1 T C 7: 140,834,876 (GRCm39) V17A probably benign Het
Plekhg2 T G 7: 28,069,908 (GRCm39) T42P probably benign Het
Pmp22 T A 11: 63,025,250 (GRCm39) W28R probably damaging Het
Ppp1r13b A T 12: 111,832,880 (GRCm39) H82Q probably damaging Het
Rgs8 T C 1: 153,541,668 (GRCm39) probably null Het
Rtl1 A G 12: 109,560,363 (GRCm39) V492A probably damaging Het
Slc22a27 A G 19: 7,857,527 (GRCm39) probably null Het
Slx4ip A G 2: 136,908,090 (GRCm39) E79G probably null Het
Syde1 C T 10: 78,425,210 (GRCm39) R267H probably damaging Het
Tas2r114 A G 6: 131,666,758 (GRCm39) I90T probably benign Het
Tjp3 C T 10: 81,109,674 (GRCm39) G843D probably benign Het
Tln1 A T 4: 43,550,304 (GRCm39) M453K possibly damaging Het
Usp39 T G 6: 72,313,368 (GRCm39) Q274P probably damaging Het
Uvrag C T 7: 98,537,768 (GRCm39) V476I probably damaging Het
Vcan T A 13: 89,860,372 (GRCm39) T332S probably damaging Het
Vcan T A 13: 89,879,583 (GRCm39) H22L possibly damaging Het
Wls A G 3: 159,578,705 (GRCm39) D89G probably benign Het
Zfhx2 A T 14: 55,303,346 (GRCm39) V1546E probably benign Het
Zfp457 T A 13: 67,442,134 (GRCm39) H147L probably damaging Het
Other mutations in Ttc39a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00870:Ttc39a APN 4 109,299,542 (GRCm39) splice site probably benign
IGL01143:Ttc39a APN 4 109,300,010 (GRCm39) critical splice donor site probably null
IGL01802:Ttc39a APN 4 109,290,281 (GRCm39) nonsense probably null
IGL01906:Ttc39a APN 4 109,278,591 (GRCm39) missense probably benign 0.04
IGL02115:Ttc39a APN 4 109,283,491 (GRCm39) splice site probably benign
IGL02415:Ttc39a APN 4 109,288,726 (GRCm39) unclassified probably benign
IGL02658:Ttc39a APN 4 109,280,090 (GRCm39) missense probably damaging 1.00
IGL02728:Ttc39a APN 4 109,299,920 (GRCm39) missense probably damaging 1.00
IGL03281:Ttc39a APN 4 109,290,219 (GRCm39) missense possibly damaging 0.84
R0030:Ttc39a UTSW 4 109,280,170 (GRCm39) missense probably benign
R0103:Ttc39a UTSW 4 109,278,650 (GRCm39) splice site probably null
R0194:Ttc39a UTSW 4 109,301,376 (GRCm39) missense probably benign
R0603:Ttc39a UTSW 4 109,283,499 (GRCm39) missense probably damaging 1.00
R2132:Ttc39a UTSW 4 109,299,903 (GRCm39) missense probably damaging 1.00
R2203:Ttc39a UTSW 4 109,288,785 (GRCm39) missense probably benign 0.19
R2473:Ttc39a UTSW 4 109,299,436 (GRCm39) missense probably damaging 0.97
R4449:Ttc39a UTSW 4 109,299,500 (GRCm39) missense possibly damaging 0.82
R4809:Ttc39a UTSW 4 109,273,218 (GRCm39) nonsense probably null
R5266:Ttc39a UTSW 4 109,279,701 (GRCm39) missense probably benign 0.04
R5590:Ttc39a UTSW 4 109,290,184 (GRCm39) critical splice acceptor site probably null
R5911:Ttc39a UTSW 4 109,280,168 (GRCm39) missense possibly damaging 0.79
R5930:Ttc39a UTSW 4 109,288,075 (GRCm39) missense probably benign
R7058:Ttc39a UTSW 4 109,288,763 (GRCm39) missense probably damaging 1.00
R7771:Ttc39a UTSW 4 109,288,647 (GRCm39) missense probably damaging 1.00
R7791:Ttc39a UTSW 4 109,283,544 (GRCm39) missense probably benign 0.00
R7849:Ttc39a UTSW 4 109,279,687 (GRCm39) missense probably benign 0.00
R8687:Ttc39a UTSW 4 109,288,776 (GRCm39) missense probably damaging 0.97
R8723:Ttc39a UTSW 4 109,300,700 (GRCm39) splice site probably benign
R9037:Ttc39a UTSW 4 109,299,981 (GRCm39) missense probably damaging 1.00
R9626:Ttc39a UTSW 4 109,278,570 (GRCm39) missense possibly damaging 0.83
X0013:Ttc39a UTSW 4 109,290,334 (GRCm39) missense probably benign 0.02
Z1177:Ttc39a UTSW 4 109,288,129 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGCTGGAGACCTGTTCTCTCTATG -3'
(R):5'- TGGAATTAGCTTAACAGTGGCCCTG -3'

Sequencing Primer
(F):5'- ATGCTCCTGCTCTTTTGTGG -3'
(R):5'- CAAGTTACTACCGACCTGTGTTAG -3'
Posted On 2013-06-11