Incidental Mutation 'R0654:Ttc39b'
ID 62423
Institutional Source Beutler Lab
Gene Symbol Ttc39b
Ensembl Gene ENSMUSG00000038172
Gene Name tetratricopeptide repeat domain 39B
Synonyms 1810054D07Rik, 9130422G05Rik
MMRRC Submission 038839-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R0654 (G1)
Quality Score 100
Status Not validated
Chromosome 4
Chromosomal Location 83138537-83242488 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83159938 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 413 (M413L)
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: M413L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000040590
Gene: ENSMUSG00000038172
AA Change: M413L

DomainStartEndE-ValueType
Pfam:DUF3808 75 478 2.2e-147 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102823
AA Change: M413L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000099887
Gene: ENSMUSG00000038172
AA Change: M413L

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: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb13 A C 13: 3,692,092 (GRCm39) H24P probably damaging Het
Avpr1b T A 1: 131,527,480 (GRCm39) M1K probably null Het
Baz1a T C 12: 54,958,182 (GRCm39) E1023G probably benign Het
Bpifb5 A G 2: 154,070,820 (GRCm39) T204A probably benign Het
Cfap157 C T 2: 32,669,954 (GRCm39) V210M probably damaging Het
Clock A G 5: 76,374,976 (GRCm39) V731A possibly damaging Het
Cntn6 C T 6: 104,753,389 (GRCm39) T447I probably benign Het
Dchs1 A G 7: 105,421,556 (GRCm39) I288T probably damaging Het
Far2 T C 6: 148,076,639 (GRCm39) F494S possibly damaging Het
Fibin T A 2: 110,192,962 (GRCm39) D60V probably damaging Het
Fnd3c2 G A X: 105,290,760 (GRCm39) T302I possibly damaging Het
Foxp3 A G X: 7,457,639 (GRCm39) I281V probably benign Het
Fryl A G 5: 73,240,715 (GRCm39) I1295T probably benign Het
Gpr82 T C X: 13,531,829 (GRCm39) S126P probably benign Het
Gria4 T A 9: 4,464,372 (GRCm39) Q530L probably benign Het
Hivep1 A C 13: 42,313,232 (GRCm39) D1824A probably benign Het
Kif13a A G 13: 46,966,218 (GRCm39) V400A possibly damaging Het
Map3k21 C A 8: 126,668,759 (GRCm39) L782I probably benign Het
Nphs2 A C 1: 156,146,317 (GRCm39) T98P probably damaging Het
Pdss2 CGGAG CG 10: 43,097,927 (GRCm39) probably benign Het
Pkd2l1 A G 19: 44,146,070 (GRCm39) probably null Het
Rbm28 A T 6: 29,128,577 (GRCm39) S48R probably damaging Het
Rimkla C T 4: 119,335,177 (GRCm39) V69M probably damaging Het
Scg3 T A 9: 75,573,017 (GRCm39) I305F probably damaging Het
Slc22a1 T A 17: 12,881,679 (GRCm39) N310I probably damaging Het
Slc26a9 T C 1: 131,692,768 (GRCm39) V700A probably benign Het
Snx15 T C 19: 6,171,915 (GRCm39) I140V probably benign Het
Spryd3 C T 15: 102,036,969 (GRCm39) probably null Het
Srebf1 T C 11: 60,094,942 (GRCm39) T486A probably benign Het
Syne2 AGAGTGAG AGAGTGAGTGAG 12: 76,144,734 (GRCm39) probably null Het
Tbl1xr1 T A 3: 22,258,158 (GRCm39) probably null Het
Tmcc1 A T 6: 116,019,951 (GRCm39) H281Q probably benign Het
Vmn2r101 C A 17: 19,810,373 (GRCm39) H386Q probably benign Het
Zbtb47 T C 9: 121,592,327 (GRCm39) F251L 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
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
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'- CCATGCTGGCTCTCAGCCAAATTC -3'
(R):5'- TCCAGGCAGGATGTTGCTAGGATG -3'

Sequencing Primer
(F):5'- cagagatggctcagcgg -3'
(R):5'- AATTGCAGGTGCTGTCCTCTAAG -3'
Posted On 2013-07-30