Incidental Mutation 'R4746:Ttc39b'
ID 356715
Institutional Source Beutler Lab
Gene Symbol Ttc39b
Ensembl Gene ENSMUSG00000038172
Gene Name tetratricopeptide repeat domain 39B
Synonyms 1810054D07Rik, 9130422G05Rik
MMRRC Submission 041968-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R4746 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 83138537-83242488 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83162340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 308 (V308A)
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: V308A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000040590
Gene: ENSMUSG00000038172
AA Change: V308A

DomainStartEndE-ValueType
Pfam:DUF3808 75 478 2.2e-147 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102823
AA Change: V308A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000099887
Gene: ENSMUSG00000038172
AA Change: V308A

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 noncoding transcript
Transcript: ENSMUST00000146519
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik G A 2: 152,282,685 (GRCm39) S180N probably benign Het
Atp5f1a G T 18: 77,866,442 (GRCm39) G165V probably benign Het
Cbfa2t2 A C 2: 154,365,845 (GRCm39) M352L possibly damaging Het
Ccser2 A T 14: 36,631,082 (GRCm39) D98E probably damaging Het
Cfap20 A G 8: 96,148,684 (GRCm39) probably null Het
Chuk A T 19: 44,077,210 (GRCm39) C379S possibly damaging Het
Cic G A 7: 24,987,905 (GRCm39) G1531E probably damaging Het
Ckap4 A G 10: 84,369,384 (GRCm39) V116A possibly damaging Het
Cxcl13 A G 5: 96,107,756 (GRCm39) K71E probably damaging Het
Dmxl2 A T 9: 54,359,080 (GRCm39) I210N probably benign Het
Donson A C 16: 91,479,125 (GRCm39) V397G probably damaging Het
Dpy19l1 C A 9: 24,361,966 (GRCm39) V332L probably benign Het
Dsp T C 13: 38,379,080 (GRCm39) S1343P possibly damaging Het
Egflam A G 15: 7,254,120 (GRCm39) probably null Het
Eif2b4 A G 5: 31,344,997 (GRCm39) I550T probably damaging Het
Fbxo47 A T 11: 97,770,254 (GRCm39) V46D probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Folr1 T A 7: 101,513,184 (GRCm39) D37V probably damaging Het
Gm17333 AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA 16: 77,649,766 (GRCm39) noncoding transcript Het
Gnb1 C A 4: 155,627,531 (GRCm39) A104E probably damaging Het
Gnptg ATTGTTGATGATTT AT 17: 25,454,571 (GRCm39) probably benign Het
Htra4 A T 8: 25,523,713 (GRCm39) V284E probably damaging Het
Igkv3-3 A T 6: 70,664,308 (GRCm39) D50V probably benign Het
Irs3 A G 5: 137,642,209 (GRCm39) S410P probably benign Het
Kif26b C T 1: 178,701,546 (GRCm39) Q642* probably null Het
Klhl11 A T 11: 100,355,176 (GRCm39) M215K probably benign Het
Lamc3 A G 2: 31,795,626 (GRCm39) N337S possibly damaging Het
Lrrc55 G A 2: 85,026,514 (GRCm39) A170V probably damaging Het
Marchf3 A T 18: 56,909,144 (GRCm39) W214R probably damaging Het
Megf11 A C 9: 64,416,027 (GRCm39) T79P probably damaging Het
Mia3 A G 1: 183,126,663 (GRCm39) V26A possibly damaging Het
Myrf A G 19: 10,195,955 (GRCm39) F353S probably damaging Het
Obscn A G 11: 58,970,634 (GRCm39) probably null Het
Ocstamp T C 2: 165,238,208 (GRCm39) K352R probably benign Het
Or2t35 A T 14: 14,407,359 (GRCm38) I46F probably benign Het
Or8b12 G T 9: 37,657,453 (GRCm39) V8L probably benign Het
Osbpl3 T C 6: 50,305,654 (GRCm39) N434S probably damaging Het
Pign A C 1: 105,512,749 (GRCm39) L645V probably benign Het
Polr1has A T 17: 37,275,765 (GRCm39) I116L probably benign Het
Polr2a A G 11: 69,626,500 (GRCm39) S1540P probably benign Het
Ppp2r3c A T 12: 55,349,420 (GRCm39) probably null Het
Ptprf A G 4: 118,082,236 (GRCm39) V414A possibly damaging Het
Pyroxd2 G A 19: 42,740,839 (GRCm39) R22* probably null Het
Rab11fip2 G A 19: 59,925,542 (GRCm39) A225V probably damaging Het
Ranbp2 C T 10: 58,328,492 (GRCm39) A2836V probably damaging Het
Rimklb G A 6: 122,449,591 (GRCm39) R28* probably null Het
Scyl3 G A 1: 163,776,820 (GRCm39) R404Q probably damaging Het
Slc9a8 A T 2: 167,283,090 (GRCm39) K79* probably null Het
Sowaha A T 11: 53,370,163 (GRCm39) probably null Het
Tnk1 A G 11: 69,745,992 (GRCm39) V311A probably damaging Het
Tnrc6a T A 7: 122,789,220 (GRCm39) S1680T probably damaging Het
Tpp1 T C 7: 105,398,158 (GRCm39) Y335C probably damaging Het
Ttll3 A C 6: 113,384,353 (GRCm39) Q557P probably damaging Het
Ulk3 G A 9: 57,500,201 (GRCm39) A266T probably benign Het
Wfdc6b C A 2: 164,459,353 (GRCm39) C138* probably null 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
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'- TCGATTCGGGCATGATAGAAG -3'
(R):5'- TTGAGACTTGTCTGAGACAGCC -3'

Sequencing Primer
(F):5'- TTCGGGCATGATAGAAGAGTATG -3'
(R):5'- AAATTGTCTGCCCTGGAGC -3'
Posted On 2015-11-11