Incidental Mutation 'R8095:Ttc39b'
ID 630138
Institutional Source Beutler Lab
Gene Symbol Ttc39b
Ensembl Gene ENSMUSG00000038172
Gene Name tetratricopeptide repeat domain 39B
Synonyms 1810054D07Rik, 9130422G05Rik
MMRRC Submission 067527-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R8095 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 83138537-83242488 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 83164557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 252 (A252T)
Ref Sequence ENSEMBL: ENSMUSP00000099887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048274] [ENSMUST00000102823]
AlphaFold Q8BYY4
Predicted Effect probably benign
Transcript: ENSMUST00000048274
AA Change: A252T

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000040590
Gene: ENSMUSG00000038172
AA Change: A252T

DomainStartEndE-ValueType
Pfam:DUF3808 75 478 2.2e-147 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102823
AA Change: A252T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000099887
Gene: ENSMUSG00000038172
AA Change: A252T

DomainStartEndE-ValueType
Pfam:DUF3808 75 533 3.6e-167 PFAM
Pfam:TPR_8 329 360 4.5e-3 PFAM
Pfam:TPR_6 563 594 6.9e-5 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.1%
  • 20x: 97.6%
Validation Efficiency 100% (49/49)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,536,196 (GRCm39) I490M possibly damaging Het
Abcc9 T C 6: 142,590,048 (GRCm39) I817V probably benign Het
Atp11b T C 3: 35,888,565 (GRCm39) L945P probably damaging Het
Coa8 C A 12: 111,689,218 (GRCm39) A100D probably damaging Het
Crem T C 18: 3,295,106 (GRCm39) T108A probably benign Het
Cttnbp2 T A 6: 18,435,432 (GRCm39) K142M probably damaging Het
Cyp51 C T 5: 4,136,490 (GRCm39) E435K probably benign Het
Dnah14 G T 1: 181,633,597 (GRCm39) E11* probably null Het
Dpy19l1 T C 9: 24,396,160 (GRCm39) probably null Het
Dym A G 18: 75,247,872 (GRCm39) T259A possibly damaging Het
E030018B13Rik T G 7: 63,569,049 (GRCm39) H32Q unknown Het
Ehmt2 T G 17: 35,126,745 (GRCm39) H809Q probably damaging Het
Fabp6 G A 11: 43,489,543 (GRCm39) R33C probably damaging Het
Fam98a C A 17: 75,845,766 (GRCm39) D327Y probably damaging Het
Foxf1 C T 8: 121,813,551 (GRCm39) T357I probably benign Het
Foxh1 T A 15: 76,553,208 (GRCm39) R169* probably null Het
Hydin T C 8: 111,295,991 (GRCm39) F3568S probably damaging Het
Il22 T C 10: 118,041,028 (GRCm39) S45P possibly damaging Het
Isyna1 C A 8: 71,049,035 (GRCm39) Y371* probably null Het
Lingo3 T C 10: 80,671,255 (GRCm39) H225R probably benign Het
Lmo7 T A 14: 102,124,855 (GRCm39) V560E possibly damaging Het
Mab21l2 A G 3: 86,454,769 (GRCm39) V77A probably benign Het
Mapkbp1 A G 2: 119,848,131 (GRCm39) K595R probably benign Het
Mfsd2a A T 4: 122,845,064 (GRCm39) C216S probably damaging Het
Muc16 A T 9: 18,496,126 (GRCm39) Y6688* probably null Het
Or12j5 T C 7: 140,084,192 (GRCm39) Y60C probably damaging Het
Otud6b T C 4: 14,825,614 (GRCm39) D72G probably damaging Het
Pcdhgb6 A G 18: 37,875,924 (GRCm39) I211V probably benign Het
Ryr3 A G 2: 112,498,388 (GRCm39) probably null Het
Sardh T C 2: 27,132,730 (GRCm39) Y166C probably damaging Het
Scn1a T A 2: 66,132,809 (GRCm39) K171N possibly damaging Het
Scyl2 G T 10: 89,476,965 (GRCm39) T720K probably damaging Het
Slc9a8 T A 2: 167,310,891 (GRCm39) V384D probably damaging Het
Slco1a8 T A 6: 141,933,415 (GRCm39) I457F probably benign Het
Smg1 T C 7: 117,772,285 (GRCm39) Y1490C unknown Het
Snx16 A T 3: 10,503,244 (GRCm39) M1K probably null Het
Sqle A G 15: 59,193,276 (GRCm39) S218G probably benign Het
Strip1 A G 3: 107,525,455 (GRCm39) I527T possibly damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tnfsf13 A G 11: 69,575,983 (GRCm39) C35R probably damaging Het
Trf T C 9: 103,087,735 (GRCm39) Y673C probably damaging Het
Tubgcp6 A T 15: 89,006,977 (GRCm39) L15H probably benign Het
Uspl1 C T 5: 149,150,992 (GRCm39) Q731* probably null Het
Vmn1r193 T C 13: 22,403,231 (GRCm39) R254G possibly damaging Het
Vrtn C T 12: 84,696,809 (GRCm39) R520C probably damaging Het
Wipf1 G A 2: 73,267,879 (GRCm39) P173L possibly damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp644 A C 5: 106,766,280 (GRCm39) V1234G possibly damaging Het
Other mutations in Ttc39b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00553:Ttc39b APN 4 83,162,276 (GRCm39) splice site probably benign
IGL02118:Ttc39b APN 4 83,216,186 (GRCm39) missense probably damaging 1.00
IGL02860:Ttc39b APN 4 83,181,983 (GRCm39) missense probably benign 0.14
IGL03008:Ttc39b APN 4 83,165,932 (GRCm39) missense probably benign 0.00
IGL03136:Ttc39b APN 4 83,155,517 (GRCm39) missense probably damaging 0.97
IGL03310:Ttc39b APN 4 83,165,896 (GRCm39) missense probably benign 0.00
IGL03409:Ttc39b APN 4 83,179,193 (GRCm39) missense probably damaging 1.00
R0536:Ttc39b UTSW 4 83,145,435 (GRCm39) missense probably damaging 1.00
R0654:Ttc39b UTSW 4 83,159,938 (GRCm39) missense probably benign 0.03
R1690:Ttc39b UTSW 4 83,145,414 (GRCm39) missense probably damaging 1.00
R1758:Ttc39b UTSW 4 83,155,586 (GRCm39) missense probably damaging 1.00
R1933:Ttc39b UTSW 4 83,150,957 (GRCm39) missense possibly damaging 0.87
R2221:Ttc39b UTSW 4 83,150,999 (GRCm39) missense probably benign 0.00
R2223:Ttc39b UTSW 4 83,150,999 (GRCm39) missense probably benign 0.00
R4182:Ttc39b UTSW 4 83,155,538 (GRCm39) missense probably damaging 1.00
R4746:Ttc39b UTSW 4 83,162,340 (GRCm39) missense probably benign 0.01
R4984:Ttc39b UTSW 4 83,160,446 (GRCm39) missense probably benign 0.05
R5328:Ttc39b UTSW 4 83,180,178 (GRCm39) missense probably damaging 1.00
R5360:Ttc39b UTSW 4 83,180,084 (GRCm39) missense probably damaging 1.00
R5429:Ttc39b UTSW 4 83,162,190 (GRCm39) missense possibly damaging 0.50
R5646:Ttc39b UTSW 4 83,162,307 (GRCm39) missense probably damaging 1.00
R6353:Ttc39b UTSW 4 83,148,730 (GRCm39) missense probably benign 0.07
R6681:Ttc39b UTSW 4 83,158,285 (GRCm39) intron probably benign
R6873:Ttc39b UTSW 4 83,164,513 (GRCm39) missense probably damaging 1.00
R7274:Ttc39b UTSW 4 83,180,088 (GRCm39) missense possibly damaging 0.95
R7414:Ttc39b UTSW 4 83,160,459 (GRCm39) missense probably damaging 0.99
R7536:Ttc39b UTSW 4 83,158,215 (GRCm39) nonsense probably null
R8728:Ttc39b UTSW 4 83,171,247 (GRCm39) missense probably damaging 0.99
R9123:Ttc39b UTSW 4 83,189,444 (GRCm39) missense probably damaging 1.00
R9194:Ttc39b UTSW 4 83,181,977 (GRCm39) missense possibly damaging 0.67
R9303:Ttc39b UTSW 4 83,151,023 (GRCm39) missense probably damaging 1.00
R9305:Ttc39b UTSW 4 83,151,023 (GRCm39) missense probably damaging 1.00
R9379:Ttc39b UTSW 4 83,189,376 (GRCm39) missense probably benign 0.28
R9473:Ttc39b UTSW 4 83,181,977 (GRCm39) missense possibly damaging 0.67
X0064:Ttc39b UTSW 4 83,179,176 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- AGGAACACTTGCGCCTCATTTG -3'
(R):5'- AGACTTGATTTGGCTTCCAGG -3'

Sequencing Primer
(F):5'- GCGCCTCATTTGGGGAAG -3'
(R):5'- GCTTCCAGGGCTTTTGAACAG -3'
Posted On 2020-06-30