Incidental Mutation 'R8866:Ttc39c'
ID 675970
Institutional Source Beutler Lab
Gene Symbol Ttc39c
Ensembl Gene ENSMUSG00000024424
Gene Name tetratricopeptide repeat domain 39C
Synonyms 1700008N02Rik, 2810439F02Rik
MMRRC Submission 068742-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R8866 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 12732953-12871920 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12831003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 288 (S288C)
Ref Sequence ENSEMBL: ENSMUSP00000025294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025294] [ENSMUST00000169401]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025294
AA Change: S288C

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000025294
Gene: ENSMUSG00000024424
AA Change: S288C

DomainStartEndE-ValueType
Pfam:DUF3808 31 495 7.3e-140 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169401
AA Change: S230C

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133127
Gene: ENSMUSG00000024424
AA Change: S230C

DomainStartEndE-ValueType
Pfam:DUF3808 1 437 1.6e-134 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 C T 3: 59,914,511 (GRCm39) T38I probably benign Het
Arhgap1 G T 2: 91,499,744 (GRCm39) S293I probably benign Het
Arhgap45 C A 10: 79,853,750 (GRCm39) P88Q probably damaging Het
Atg9a A C 1: 75,161,867 (GRCm39) F560V probably damaging Het
Btaf1 T A 19: 36,935,901 (GRCm39) N230K probably benign Het
Ccne1 A C 7: 37,800,046 (GRCm39) H179Q probably benign Het
Dbr1 T A 9: 99,460,497 (GRCm39) L109* probably null Het
Dchs1 G T 7: 105,404,597 (GRCm39) N2648K probably benign Het
Ddx47 A G 6: 135,000,356 (GRCm39) K451E probably benign Het
Dlgap1 A T 17: 70,823,435 (GRCm39) H140L probably damaging Het
Dnah11 T A 12: 118,156,107 (GRCm39) H181L probably benign Het
Dync1h1 T C 12: 110,602,333 (GRCm39) C2074R probably damaging Het
Ell2 A T 13: 75,917,793 (GRCm39) Q574H probably damaging Het
Eloa A C 4: 135,737,538 (GRCm39) probably null Het
Epha7 A G 4: 28,821,614 (GRCm39) I260V probably benign Het
Fbp2 T C 13: 62,989,709 (GRCm39) K199R probably benign Het
Fetub A T 16: 22,758,321 (GRCm39) E368V possibly damaging Het
Fsip2 A G 2: 82,810,521 (GRCm39) Q2280R probably benign Het
Fstl4 A G 11: 52,963,233 (GRCm39) E205G possibly damaging Het
Gm5592 A T 7: 40,938,246 (GRCm39) R509S possibly damaging Het
Gpld1 A G 13: 25,170,890 (GRCm39) T794A probably benign Het
Gsk3b A G 16: 38,004,900 (GRCm39) Y157C probably damaging Het
Hgs A G 11: 120,360,464 (GRCm39) N54S probably benign Het
Hydin G A 8: 111,308,779 (GRCm39) V4022M possibly damaging Het
Kank1 T C 19: 25,388,702 (GRCm39) S792P possibly damaging Het
Kctd4 A G 14: 76,200,465 (GRCm39) I145M probably benign Het
Klra5 A T 6: 129,880,533 (GRCm39) W212R probably damaging Het
Lrp6 A T 6: 134,445,785 (GRCm39) N1009K probably benign Het
Lrrc10 T A 10: 116,881,858 (GRCm39) N177K probably damaging Het
Lrrc39 T A 3: 116,363,790 (GRCm39) I121N probably damaging Het
Mov10l1 A T 15: 88,896,169 (GRCm39) D671V probably benign Het
Ndel1 A G 11: 68,734,645 (GRCm39) probably null Het
Or10g3 A T 14: 52,610,196 (GRCm39) Y105N probably damaging Het
Or1e27-ps1 A G 11: 73,555,825 (GRCm39) Y130C probably damaging Het
Or1e32 A T 11: 73,705,237 (GRCm39) S224T probably damaging Het
Or51a43 A T 7: 103,718,119 (GRCm39) S40T probably damaging Het
Otop2 A G 11: 115,220,354 (GRCm39) D398G probably benign Het
Pkd1 T C 17: 24,792,051 (GRCm39) V1246A probably damaging Het
Polr3b T A 10: 84,531,555 (GRCm39) D810E probably benign Het
Ppl T A 16: 4,920,211 (GRCm39) T395S probably benign Het
Ptprm G A 17: 67,116,630 (GRCm39) A883V probably benign Het
Rapgef6 G A 11: 54,443,700 (GRCm39) probably null Het
Rbm12 A T 2: 155,938,693 (GRCm39) Y526* probably null Het
Rbm15b C T 9: 106,763,595 (GRCm39) R191Q probably benign Het
Rsf1 GCGGCGGCG GCGGCGGCGACGGCGGCG 7: 97,229,120 (GRCm39) probably benign Het
Rxylt1 A G 10: 121,924,953 (GRCm39) Y250H probably damaging Het
Serpinb6c A T 13: 34,083,309 (GRCm39) I35N probably damaging Het
Setd4 A G 16: 93,386,961 (GRCm39) F246L probably damaging Het
Shank2 A G 7: 143,964,986 (GRCm39) S865G probably benign Het
Skint6 T C 4: 112,711,650 (GRCm39) N956D probably benign Het
Slc30a3 C A 5: 31,245,325 (GRCm39) V332F possibly damaging Het
Smg1 A G 7: 117,806,122 (GRCm39) S240P unknown Het
Tank T A 2: 61,409,005 (GRCm39) S7R probably benign Het
Tecpr1 T C 5: 144,153,117 (GRCm39) E204G possibly damaging Het
Tmem74 A G 15: 43,730,231 (GRCm39) S271P probably damaging Het
Tor4a T C 2: 25,084,965 (GRCm39) M313V probably benign Het
Tpd52l2 A G 2: 181,154,861 (GRCm39) D192G probably damaging Het
Trim29 T C 9: 43,222,945 (GRCm39) V258A probably damaging Het
Ttn T C 2: 76,592,675 (GRCm39) E20819G probably damaging Het
Twnk C T 19: 45,000,272 (GRCm39) Q663* probably null Het
Ucn T A 5: 31,295,857 (GRCm39) Q3L probably benign Het
Unc80 G A 1: 66,629,388 (GRCm39) G1295E probably benign Het
Usp9y C T Y: 1,395,758 (GRCm39) R492H probably damaging Het
Vars1 T C 17: 35,234,620 (GRCm39) S1150P probably benign Het
Vwa5b1 T G 4: 138,327,628 (GRCm39) E316A probably damaging Het
Zc3h7b G A 15: 81,656,681 (GRCm39) R166Q probably benign Het
Zfp839 A G 12: 110,834,848 (GRCm39) E701G probably benign Het
Zfp931 A T 2: 177,710,178 (GRCm39) C69* probably null Het
Other mutations in Ttc39c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00976:Ttc39c APN 18 12,817,952 (GRCm39) splice site probably benign
IGL02323:Ttc39c APN 18 12,869,800 (GRCm39) missense probably null 0.79
R1628:Ttc39c UTSW 18 12,867,936 (GRCm39) splice site probably benign
R1771:Ttc39c UTSW 18 12,817,881 (GRCm39) splice site probably null
R2002:Ttc39c UTSW 18 12,830,935 (GRCm39) splice site probably null
R4162:Ttc39c UTSW 18 12,857,994 (GRCm39) critical splice acceptor site probably null
R4344:Ttc39c UTSW 18 12,861,667 (GRCm39) splice site probably null
R4484:Ttc39c UTSW 18 12,863,126 (GRCm39) missense possibly damaging 0.90
R4752:Ttc39c UTSW 18 12,861,782 (GRCm39) missense probably benign 0.05
R4872:Ttc39c UTSW 18 12,820,173 (GRCm39) intron probably benign
R4912:Ttc39c UTSW 18 12,867,951 (GRCm39) missense probably benign 0.00
R4946:Ttc39c UTSW 18 12,857,999 (GRCm39) nonsense probably null
R5036:Ttc39c UTSW 18 12,820,138 (GRCm39) critical splice donor site probably null
R5439:Ttc39c UTSW 18 12,828,428 (GRCm39) missense possibly damaging 0.88
R5726:Ttc39c UTSW 18 12,830,992 (GRCm39) missense probably damaging 1.00
R7213:Ttc39c UTSW 18 12,820,138 (GRCm39) critical splice donor site probably null
R7400:Ttc39c UTSW 18 12,776,856 (GRCm39) intron probably benign
R7413:Ttc39c UTSW 18 12,861,746 (GRCm39) missense possibly damaging 0.65
R7567:Ttc39c UTSW 18 12,822,936 (GRCm39) missense probably benign 0.01
R7979:Ttc39c UTSW 18 12,866,022 (GRCm39) missense probably benign
R8769:Ttc39c UTSW 18 12,828,545 (GRCm39) missense probably damaging 1.00
R8824:Ttc39c UTSW 18 12,820,003 (GRCm39) splice site probably benign
R8827:Ttc39c UTSW 18 12,828,436 (GRCm39) missense probably benign
R8855:Ttc39c UTSW 18 12,831,003 (GRCm39) missense probably benign 0.30
R8996:Ttc39c UTSW 18 12,820,136 (GRCm39) missense probably benign 0.00
R9349:Ttc39c UTSW 18 12,822,932 (GRCm39) nonsense probably null
R9356:Ttc39c UTSW 18 12,853,102 (GRCm39) critical splice donor site probably null
R9797:Ttc39c UTSW 18 12,828,542 (GRCm39) missense probably damaging 1.00
Z1088:Ttc39c UTSW 18 12,820,020 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- CATAAACATGGGGAAGCGCTC -3'
(R):5'- GCCAATGGTATTCTGGCACATAC -3'

Sequencing Primer
(F):5'- GGAAGCGCTCGGATTGTAC -3'
(R):5'- GGTATTCTGGCACATACAAAATGTCC -3'
Posted On 2021-07-15