Incidental Mutation 'R9453:Ttc39d'
ID 714425
Institutional Source Beutler Lab
Gene Symbol Ttc39d
Ensembl Gene ENSMUSG00000046196
Gene Name tetratricopeptide repeat domain 39D
Synonyms 4930560E09Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R9453 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 80523343-80525365 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80524754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 471 (F471S)
Ref Sequence ENSEMBL: ENSMUSP00000123158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053168] [ENSMUST00000134652]
AlphaFold Q0VF76
Predicted Effect probably damaging
Transcript: ENSMUST00000053168
AA Change: F471S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053781
Gene: ENSMUSG00000046196
AA Change: F471S

DomainStartEndE-ValueType
Pfam:DUF3808 69 522 9.6e-149 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000134652
AA Change: F471S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123158
Gene: ENSMUSG00000046196
AA Change: F471S

DomainStartEndE-ValueType
Pfam:DUF3808 69 522 7.2e-150 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik G A 11: 58,771,054 (GRCm39) A179T probably benign Het
Abca6 A G 11: 110,138,090 (GRCm39) probably null Het
Agps A C 2: 75,662,585 (GRCm39) D10A probably damaging Het
Atad2b T A 12: 5,081,578 (GRCm39) D1162E probably benign Het
Atp13a4 T C 16: 29,239,659 (GRCm39) K851R unknown Het
Cdh15 A G 8: 123,586,029 (GRCm39) D136G probably damaging Het
Cdk5rap1 A T 2: 154,190,585 (GRCm39) Y459N probably damaging Het
Cep192 A T 18: 67,989,354 (GRCm39) K1834* probably null Het
Cfap221 C T 1: 119,853,361 (GRCm39) V778I probably benign Het
Chpf G A 1: 75,452,854 (GRCm39) T362I probably benign Het
Cyp4x1 T C 4: 114,991,069 (GRCm39) R36G probably damaging Het
D16Ertd472e T A 16: 78,342,052 (GRCm39) Q276L probably damaging Het
Dapk3 T C 10: 81,025,825 (GRCm39) Y39H probably damaging Het
Eefsec T C 6: 88,353,337 (GRCm39) T111A probably damaging Het
Ehbp1l1 G A 19: 5,758,371 (GRCm39) R1714C unknown Het
Flcn A G 11: 59,694,609 (GRCm39) V121A probably damaging Het
Gaa G T 11: 119,165,958 (GRCm39) D423Y probably damaging Het
Gaa A C 11: 119,165,959 (GRCm39) D423A probably benign Het
Garnl3 A G 2: 32,893,881 (GRCm39) I694T probably damaging Het
Gm5114 T A 7: 39,058,242 (GRCm39) Q459L probably damaging Het
H1f0 C T 15: 78,912,947 (GRCm39) P9L probably damaging Het
Hmmr A G 11: 40,612,655 (GRCm39) probably null Het
Klra5 C A 6: 129,883,686 (GRCm39) W147L possibly damaging Het
Lmnb1 G A 18: 56,873,114 (GRCm39) probably null Het
Lrp2 T C 2: 69,288,832 (GRCm39) Y3678C probably damaging Het
Map7 T C 10: 20,153,981 (GRCm39) V699A unknown Het
Mme G T 3: 63,272,306 (GRCm39) G635V possibly damaging Het
Mroh8 A T 2: 157,071,948 (GRCm39) I519N possibly damaging Het
Mrps11 T C 7: 78,442,390 (GRCm39) S157P probably damaging Het
Muc16 T C 9: 18,572,061 (GRCm39) T153A unknown Het
Nlrp1b A G 11: 71,072,913 (GRCm39) V310A probably damaging Het
Oas1f T C 5: 120,993,592 (GRCm39) V268A probably damaging Het
Or56a3b T A 7: 104,770,817 (GRCm39) I51N Het
Or6y1 A T 1: 174,276,233 (GRCm39) T15S probably benign Het
Padi4 A G 4: 140,479,950 (GRCm39) L401P probably benign Het
Pdzd7 A G 19: 45,016,056 (GRCm39) *1022Q probably null Het
Plcl2 C A 17: 50,915,391 (GRCm39) T800K probably damaging Het
Polr1has TCACCACCACCACCACCACCACCAC TCACCACCACCACCACCACCAC 17: 37,275,939 (GRCm39) probably benign Het
Ppp1r37 A T 7: 19,295,796 (GRCm39) F54I probably damaging Het
Prl7c1 T A 13: 27,957,870 (GRCm39) Y190F probably benign Het
Prpf8 A G 11: 75,397,212 (GRCm39) E2015G possibly damaging Het
Rpap3 A G 15: 97,579,641 (GRCm39) V457A Het
Samd13 A T 3: 146,368,510 (GRCm39) D27E Het
Sephs1 A T 2: 4,889,174 (GRCm39) probably benign Het
Slc22a20 T G 19: 6,023,024 (GRCm39) Q373P probably damaging Het
Sp100 A G 1: 85,629,179 (GRCm39) *483W probably null Het
Src A T 2: 157,307,852 (GRCm39) T254S probably damaging Het
St6galnac2 A T 11: 116,569,344 (GRCm39) M301K possibly damaging Het
Tnfsf13 A T 11: 69,576,010 (GRCm39) W26R probably damaging Het
Trbv28 T A 6: 41,248,687 (GRCm39) D72E probably benign Het
Trim75 T A 8: 65,436,561 (GRCm39) probably benign Het
Vav1 C T 17: 57,613,191 (GRCm39) P621L probably benign Het
Vezt A T 10: 93,832,856 (GRCm39) L185* probably null Het
Vmn2r42 T C 7: 8,187,295 (GRCm39) I826V probably benign Het
Vmn2r67 G A 7: 84,800,697 (GRCm39) T413M probably benign Het
Vnn1 G A 10: 23,776,723 (GRCm39) C358Y probably damaging Het
Wdr83os G C 8: 85,808,638 (GRCm39) W106C probably damaging Het
Wdr95 T C 5: 149,475,917 (GRCm39) S72P probably damaging Het
Zfp423 T A 8: 88,508,251 (GRCm39) T698S probably damaging Het
Zfp521 G A 18: 13,977,293 (GRCm39) T1040I probably damaging Het
Zfp563 T A 17: 33,308,565 (GRCm39) V9E Het
Zmym2 T A 14: 57,180,770 (GRCm39) V894E probably damaging Het
Other mutations in Ttc39d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Ttc39d APN 17 80,523,955 (GRCm39) missense probably damaging 0.99
IGL01065:Ttc39d APN 17 80,523,703 (GRCm39) missense probably damaging 0.96
IGL01834:Ttc39d APN 17 80,523,475 (GRCm39) missense probably benign
IGL02541:Ttc39d APN 17 80,523,875 (GRCm39) missense probably damaging 0.99
PIT4687001:Ttc39d UTSW 17 80,524,354 (GRCm39) missense probably damaging 1.00
R0042:Ttc39d UTSW 17 80,523,379 (GRCm39) missense probably benign 0.02
R0042:Ttc39d UTSW 17 80,523,379 (GRCm39) missense probably benign 0.02
R0124:Ttc39d UTSW 17 80,524,375 (GRCm39) missense probably damaging 1.00
R0523:Ttc39d UTSW 17 80,523,886 (GRCm39) missense possibly damaging 0.78
R0801:Ttc39d UTSW 17 80,523,644 (GRCm39) missense probably damaging 1.00
R1581:Ttc39d UTSW 17 80,523,913 (GRCm39) missense probably benign 0.02
R2071:Ttc39d UTSW 17 80,524,030 (GRCm39) missense probably damaging 1.00
R2271:Ttc39d UTSW 17 80,524,675 (GRCm39) missense probably damaging 1.00
R2272:Ttc39d UTSW 17 80,524,675 (GRCm39) missense probably damaging 1.00
R2520:Ttc39d UTSW 17 80,523,799 (GRCm39) missense probably benign 0.17
R2885:Ttc39d UTSW 17 80,524,144 (GRCm39) missense probably benign 0.00
R2939:Ttc39d UTSW 17 80,524,982 (GRCm39) missense probably damaging 1.00
R2940:Ttc39d UTSW 17 80,524,982 (GRCm39) missense probably damaging 1.00
R3081:Ttc39d UTSW 17 80,524,982 (GRCm39) missense probably damaging 1.00
R4669:Ttc39d UTSW 17 80,525,068 (GRCm39) missense probably benign 0.00
R4872:Ttc39d UTSW 17 80,524,527 (GRCm39) missense probably benign 0.00
R4951:Ttc39d UTSW 17 80,523,462 (GRCm39) missense probably benign 0.01
R6260:Ttc39d UTSW 17 80,524,076 (GRCm39) nonsense probably null
R7018:Ttc39d UTSW 17 80,523,610 (GRCm39) missense probably benign 0.06
R7042:Ttc39d UTSW 17 80,523,891 (GRCm39) missense probably benign 0.00
R7468:Ttc39d UTSW 17 80,523,579 (GRCm39) missense possibly damaging 0.96
R7761:Ttc39d UTSW 17 80,524,741 (GRCm39) missense probably damaging 0.98
R7825:Ttc39d UTSW 17 80,523,575 (GRCm39) missense probably damaging 0.99
R7955:Ttc39d UTSW 17 80,523,352 (GRCm39) missense probably benign
R8192:Ttc39d UTSW 17 80,524,007 (GRCm39) missense probably damaging 0.99
R8400:Ttc39d UTSW 17 80,523,434 (GRCm39) missense probably benign 0.15
R8682:Ttc39d UTSW 17 80,524,693 (GRCm39) missense probably benign 0.01
R9019:Ttc39d UTSW 17 80,523,349 (GRCm39) missense probably benign 0.03
R9480:Ttc39d UTSW 17 80,524,139 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGCTATCATACTGGCCTTGATTCC -3'
(R):5'- AAGTAGTGCTCAGCCTTCAGG -3'

Sequencing Primer
(F):5'- CTGACTGTGTGGACTCGGAAAAC -3'
(R):5'- TTCAGGTGCTTGCCCAAG -3'
Posted On 2022-06-15