Incidental Mutation 'R9019:Ttc39d'
ID 686636
Institutional Source Beutler Lab
Gene Symbol Ttc39d
Ensembl Gene ENSMUSG00000046196
Gene Name tetratricopeptide repeat domain 39D
Synonyms 4930560E09Rik
MMRRC Submission 068849-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R9019 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 80523343-80525365 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 80523349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 3 (R3W)
Ref Sequence ENSEMBL: ENSMUSP00000123158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053168] [ENSMUST00000134652]
AlphaFold Q0VF76
Predicted Effect probably benign
Transcript: ENSMUST00000053168
AA Change: R3W

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000053781
Gene: ENSMUSG00000046196
AA Change: R3W

DomainStartEndE-ValueType
Pfam:DUF3808 69 522 9.6e-149 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134652
AA Change: R3W

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000123158
Gene: ENSMUSG00000046196
AA Change: R3W

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 100% (48/48)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T A 11: 110,011,522 (GRCm39) T1174S Het
Aoc2 C T 11: 101,216,262 (GRCm39) P115L possibly damaging Het
Arhgef19 C T 4: 140,973,738 (GRCm39) P75L probably benign Het
Atad3a A G 4: 155,838,052 (GRCm39) V240A possibly damaging Het
AW551984 A T 9: 39,508,973 (GRCm39) L317* probably null Het
Bdkrb1 T C 12: 105,570,700 (GRCm39) S89P probably damaging Het
Bpifb4 T A 2: 153,790,607 (GRCm39) L166* probably null Het
Ccdc27 A G 4: 154,124,014 (GRCm39) V173A unknown Het
Ccl8 T C 11: 82,006,877 (GRCm39) V30A probably benign Het
Cdc16 C T 8: 13,831,501 (GRCm39) A578V probably benign Het
Cnksr1 T C 4: 133,959,365 (GRCm39) Y423C probably damaging Het
Cyp3a44 T C 5: 145,727,519 (GRCm39) D270G probably damaging Het
Ep300 A G 15: 81,532,730 (GRCm39) E1656G unknown Het
Eppk1 A G 15: 75,992,472 (GRCm39) F1470L probably benign Het
Fbxw16 T A 9: 109,270,135 (GRCm39) D202V probably damaging Het
Fndc3a G A 14: 72,811,840 (GRCm39) T330I probably benign Het
Gm36864 A T 7: 43,887,028 (GRCm39) Q307L probably benign Het
Gm37240 T C 3: 84,426,946 (GRCm39) E38G probably damaging Het
Gm6871 A T 7: 41,195,262 (GRCm39) C492S probably damaging Het
Gnaq T C 19: 16,355,638 (GRCm39) Y285H probably benign Het
Htt T A 5: 35,023,920 (GRCm39) F1723I probably damaging Het
Il21r G A 7: 125,231,472 (GRCm39) S300N probably damaging Het
Itm2b G A 14: 73,605,856 (GRCm39) probably benign Het
Kat6a T C 8: 23,425,754 (GRCm39) S1100P probably damaging Het
Kcnj2 T C 11: 110,963,415 (GRCm39) I269T probably damaging Het
Kmt2c G A 5: 25,488,208 (GRCm39) A4635V probably damaging Het
Kng2 A T 16: 22,847,546 (GRCm39) D38E probably damaging Het
Lgr5 A C 10: 115,314,454 (GRCm39) L161R probably damaging Het
Lrig2 A T 3: 104,368,914 (GRCm39) I923N probably benign Het
Mrgprh T C 17: 13,096,200 (GRCm39) S147P probably damaging Het
Mthfd1 C T 12: 76,350,754 (GRCm39) T712M probably benign Het
Nsmaf A T 4: 6,418,523 (GRCm39) S427R probably damaging Het
Or8g53 G T 9: 39,684,038 (GRCm39) D19E probably benign Het
Pdcd11 G T 19: 47,101,658 (GRCm39) G948C probably damaging Het
Pdzd2 A G 15: 12,375,612 (GRCm39) Y1508H probably damaging Het
Prmt5 G T 14: 54,753,564 (GRCm39) A105E probably benign Het
Prr23a3 T C 9: 98,747,213 (GRCm39) S56P probably damaging Het
Slc44a2 A G 9: 21,265,077 (GRCm39) E705G probably damaging Het
Sostdc1 A T 12: 36,364,431 (GRCm39) N47Y probably benign Het
Speg T C 1: 75,405,882 (GRCm39) Y3029H probably damaging Het
Srd5a1 G A 13: 69,748,413 (GRCm39) R129* probably null Het
Srrm4 A G 5: 116,605,586 (GRCm39) S224P unknown Het
Syne2 A G 12: 75,999,618 (GRCm39) E2337G possibly damaging Het
Tmem150c C A 5: 100,240,958 (GRCm39) V32L probably benign Het
Topaz1 T C 9: 122,619,192 (GRCm39) I1263T possibly damaging Het
Xylt1 T C 7: 117,250,038 (GRCm39) probably null Het
Zfp933 A T 4: 147,911,021 (GRCm39) C192S probably damaging Het
Zswim8 G A 14: 20,761,119 (GRCm39) G129D 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
R9453:Ttc39d UTSW 17 80,524,754 (GRCm39) missense probably damaging 1.00
R9480:Ttc39d UTSW 17 80,524,139 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCTAACGCTGCATCTCACAG -3'
(R):5'- TGGCGTCTGAGAACCTGTTATTTAG -3'

Sequencing Primer
(F):5'- GCATCTCACAGCTAGTCTTGCATTTG -3'
(R):5'- AATCCAGTTGTGCATTCTTCCAAGG -3'
Posted On 2021-11-19