Incidental Mutation 'R9194:Ttc39b'
ID 697853
Institutional Source Beutler Lab
Gene Symbol Ttc39b
Ensembl Gene ENSMUSG00000038172
Gene Name tetratricopeptide repeat domain 39B
Synonyms 1810054D07Rik, 9130422G05Rik
MMRRC Submission 068953-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R9194 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 83138537-83242488 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83181977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 81 (F81L)
Ref Sequence ENSEMBL: ENSMUSP00000099887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030205] [ENSMUST00000048274] [ENSMUST00000102823] [ENSMUST00000148811] [ENSMUST00000150522]
AlphaFold Q8BYY4
Predicted Effect possibly damaging
Transcript: ENSMUST00000030205
AA Change: F81L

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030205
Gene: ENSMUSG00000038172
AA Change: F81L

DomainStartEndE-ValueType
Pfam:DUF3808 75 173 1.9e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000048274
AA Change: F81L

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000040590
Gene: ENSMUSG00000038172
AA Change: F81L

DomainStartEndE-ValueType
Pfam:DUF3808 75 478 2.2e-147 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000102823
AA Change: F81L

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099887
Gene: ENSMUSG00000038172
AA Change: F81L

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000148811
AA Change: F51L

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124490
Gene: ENSMUSG00000038172
AA Change: F51L

DomainStartEndE-ValueType
Pfam:DUF3808 45 143 9.1e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000150522
AA Change: F51L

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124955
Gene: ENSMUSG00000038172
AA Change: F51L

DomainStartEndE-ValueType
Pfam:DUF3808 45 179 1.6e-50 PFAM
Meta Mutation Damage Score 0.1081 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 94% (44/47)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,166,371 (GRCm39) M1K probably null Het
Adra1b A T 11: 43,726,263 (GRCm39) V218D probably damaging Het
Ank1 A G 8: 23,606,255 (GRCm39) S1216G possibly damaging Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cfap44 G T 16: 44,288,824 (GRCm39) D1525Y probably damaging Het
Chd8 A T 14: 52,439,650 (GRCm39) M2341K probably benign Het
Chst11 A G 10: 83,027,319 (GRCm39) T249A probably damaging Het
Cttnbp2 A G 6: 18,434,850 (GRCm39) V336A probably benign Het
Dennd3 T C 15: 73,419,153 (GRCm39) L648P probably benign Het
Dhx16 T C 17: 36,200,173 (GRCm39) V864A probably benign Het
Enpp3 G A 10: 24,675,092 (GRCm39) H362Y possibly damaging Het
Ess2 A T 16: 17,728,028 (GRCm39) D79E probably damaging Het
Fam83c T A 2: 155,671,299 (GRCm39) Y712F probably damaging Het
Helz C T 11: 107,561,113 (GRCm39) Q1392* probably null Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Iqch T C 9: 63,479,961 (GRCm39) H143R probably benign Het
Itgb5 A G 16: 33,720,881 (GRCm39) D315G probably damaging Het
Kcnmb2 A G 3: 32,236,174 (GRCm39) K141R probably benign Het
Lrrc37a G A 11: 103,391,676 (GRCm39) P1250S probably benign Het
Mcm5 T G 8: 75,836,962 (GRCm39) V110G probably damaging Het
Med27 G A 2: 29,361,312 (GRCm39) D163N probably damaging Het
Mms22l C A 4: 24,600,185 (GRCm39) Y1129* probably null Het
Mov10l1 G A 15: 88,931,023 (GRCm39) R1081H probably damaging Het
Mtpap C G 18: 4,380,833 (GRCm39) N170K probably benign Het
Mtpap C T 18: 4,380,834 (GRCm39) Q171* probably null Het
Myo6 T A 9: 80,153,836 (GRCm39) F271I unknown Het
Ndst4 C T 3: 125,518,385 (GRCm39) S354L probably benign Het
Nfatc1 C T 18: 80,751,258 (GRCm39) A26T probably benign Het
Or7d11 C A 9: 19,966,543 (GRCm39) C72F probably damaging Het
Piezo2 G C 18: 63,250,815 (GRCm39) T428S probably benign Het
Prkch A G 12: 73,768,616 (GRCm39) E462G probably damaging Het
Rbm20 A G 19: 53,823,131 (GRCm39) Y576C probably damaging Het
Riok3 TTTCATT TTT 18: 12,282,642 (GRCm39) probably null Het
Rpp40 C T 13: 36,080,898 (GRCm39) D302N probably benign Het
Sash1 A G 10: 8,615,969 (GRCm39) V631A probably damaging Het
Sstr2 A G 11: 113,515,203 (GRCm39) T41A probably benign Het
Thsd7b T A 1: 129,843,371 (GRCm39) V861E possibly damaging Het
Tomm70a A G 16: 56,973,070 (GRCm39) K603E possibly damaging Het
Tpd52l2 T A 2: 181,141,683 (GRCm39) M22K possibly damaging Het
Tpst1 T A 5: 130,130,860 (GRCm39) L110Q possibly damaging Het
Tram1l1 A G 3: 124,115,137 (GRCm39) Y99C possibly damaging Het
Ubr1 A G 2: 120,778,325 (GRCm39) Y238H probably damaging Het
Vmn1r202 G T 13: 22,686,316 (GRCm39) H34N possibly damaging Het
Vmn1r36 G A 6: 66,693,036 (GRCm39) Q280* probably null Het
Xpnpep1 A T 19: 53,000,289 (GRCm39) V187E possibly damaging Het
Zfp592 A G 7: 80,674,349 (GRCm39) I438V probably benign 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
R8095:Ttc39b UTSW 4 83,164,557 (GRCm39) missense probably benign 0.00
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
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'- AAGCTGATTGACCGGATGG -3'
(R):5'- TCAGAGCATTGGCCTTACAGAG -3'

Sequencing Primer
(F):5'- CGGATGGGTCCCATTCAAACTAG -3'
(R):5'- TGCCCCAGCATTGAGAAG -3'
Posted On 2022-02-07