Incidental Mutation 'R4855:Ttc13'
ID 373893
Institutional Source Beutler Lab
Gene Symbol Ttc13
Ensembl Gene ENSMUSG00000037300
Gene Name tetratricopeptide repeat domain 13
Synonyms
MMRRC Submission 042466-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4855 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 125398071-125448722 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 125401174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 730 (D730N)
Ref Sequence ENSEMBL: ENSMUSP00000149848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041614] [ENSMUST00000117624] [ENSMUST00000118134] [ENSMUST00000214828] [ENSMUST00000231984]
AlphaFold A0A1L1SSC7
Predicted Effect probably damaging
Transcript: ENSMUST00000041614
AA Change: D602N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038484
Gene: ENSMUSG00000037300
AA Change: D602N

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Pfam:TPR_11 153 204 3e-8 PFAM
Pfam:TPR_19 154 213 5.1e-8 PFAM
Pfam:TPR_1 173 206 6.1e-10 PFAM
Pfam:TPR_2 173 206 1.2e-7 PFAM
Pfam:TPR_8 173 206 5.2e-8 PFAM
Pfam:TPR_16 177 241 6.5e-11 PFAM
Pfam:TPR_9 179 249 3.5e-6 PFAM
Pfam:TPR_11 204 272 2.2e-8 PFAM
Pfam:TPR_1 207 240 3.3e-5 PFAM
Pfam:TPR_2 207 240 1.9e-5 PFAM
Blast:UTG 692 755 4e-13 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000117624
AA Change: D624N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114043
Gene: ENSMUSG00000037300
AA Change: D624N

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Blast:TPR 128 161 2e-13 BLAST
TPR 162 194 1.08e1 SMART
TPR 195 228 2.24e-7 SMART
TPR 229 262 3.67e-3 SMART
Blast:UTG 714 777 4e-13 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000118134
AA Change: D678N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113383
Gene: ENSMUSG00000037300
AA Change: D678N

DomainStartEndE-ValueType
signal peptide 1 34 N/A INTRINSIC
Blast:TPR 128 156 4e-10 BLAST
TPR 181 214 5.56e-3 SMART
TPR 215 248 1.17e-1 SMART
TPR 249 282 2.24e-7 SMART
TPR 283 316 3.67e-3 SMART
Blast:UTG 768 831 1e-13 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126674
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131633
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140350
Predicted Effect probably damaging
Transcript: ENSMUST00000214828
AA Change: D730N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000231984
AA Change: D601N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.3652 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 98% (93/95)
Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Adad1 G T 3: 37,139,260 (GRCm39) L443F probably damaging Het
Amph T A 13: 19,268,378 (GRCm39) M70K probably damaging Het
Ankra2 T A 13: 98,409,919 (GRCm39) L306H probably damaging Het
Arc A C 15: 74,543,592 (GRCm39) D210E probably benign Het
Arhgap10 A G 8: 78,159,367 (GRCm39) probably null Het
Atp8b5 T A 4: 43,344,449 (GRCm39) N445K probably benign Het
C1qc G T 4: 136,617,746 (GRCm39) Q117K probably benign Het
Cadps T A 14: 12,822,449 (GRCm38) E97V unknown Het
Capn13 GCA G 17: 73,658,501 (GRCm39) probably null Het
Cdk13 A T 13: 17,895,868 (GRCm39) W1014R probably damaging Het
Cltb C T 13: 54,746,908 (GRCm39) E23K probably damaging Het
Clvs2 A T 10: 33,498,642 (GRCm39) I96N probably damaging Het
Cwf19l1 A G 19: 44,103,006 (GRCm39) V403A probably damaging Het
Ddr2 A T 1: 169,816,066 (GRCm39) L547Q possibly damaging Het
Ebf1 A T 11: 44,863,735 (GRCm39) K354* probably null Het
Fat4 A G 3: 38,942,466 (GRCm39) Q453R probably benign Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gata6 A G 18: 11,054,497 (GRCm39) E142G possibly damaging Het
Gm14221 T C 2: 160,416,600 (GRCm39) noncoding transcript Het
Gm42791 C A 5: 148,896,247 (GRCm39) probably benign Het
Gm6370 G T 5: 146,430,621 (GRCm39) V269L probably benign Het
Gphn G A 12: 78,673,984 (GRCm39) V526M probably damaging Het
Gpt A T 15: 76,583,485 (GRCm39) E206V probably damaging Het
Grm3 G A 5: 9,620,047 (GRCm39) A399V probably damaging Het
Helq A T 5: 100,931,025 (GRCm39) V575E possibly damaging Het
Herc4 A G 10: 63,151,437 (GRCm39) probably null Het
Ifi207 A T 1: 173,557,381 (GRCm39) N452K probably damaging Het
Ikbke A G 1: 131,184,848 (GRCm39) probably null Het
Kbtbd2 A G 6: 56,756,687 (GRCm39) F350L probably benign Het
Kmt2c A G 5: 25,519,555 (GRCm39) V2185A probably benign Het
Lgi2 T C 5: 52,695,849 (GRCm39) Q362R probably damaging Het
Lrit1 G A 14: 36,783,773 (GRCm39) G367E possibly damaging Het
Lrp1 G A 10: 127,446,311 (GRCm39) H78Y probably benign Het
Matk A G 10: 81,098,720 (GRCm39) probably benign Het
Med21 G A 6: 146,549,690 (GRCm39) G24S probably damaging Het
Met G T 6: 17,558,796 (GRCm39) L1141F probably damaging Het
Mroh3 A T 1: 136,128,677 (GRCm39) probably null Het
Mrpl15 T C 1: 4,844,683 (GRCm39) I203V probably benign Het
Naip1 T C 13: 100,559,728 (GRCm39) probably null Het
Ndufa9 A C 6: 126,804,505 (GRCm39) Y298* probably null Het
Neb T C 2: 52,188,906 (GRCm39) E808G probably damaging Het
Nol4l C T 2: 153,253,726 (GRCm39) G616S probably benign Het
Oprm1 T A 10: 6,788,468 (GRCm39) C408S probably benign Het
Or2ag18 T C 7: 106,405,463 (GRCm39) M69V probably benign Het
Or4f14 A G 2: 111,742,444 (GRCm39) V277A probably benign Het
Or4k42 T G 2: 111,320,293 (GRCm39) D70A probably damaging Het
Or52e7 T A 7: 104,684,858 (GRCm39) I151N probably damaging Het
Or5ak20 T C 2: 85,183,793 (GRCm39) N159S possibly damaging Het
Paqr3 A G 5: 97,256,053 (GRCm39) I107T possibly damaging Het
Pex5l G A 3: 33,196,989 (GRCm39) probably benign Het
Phf8-ps C T 17: 33,285,713 (GRCm39) S363N probably benign Het
Pik3ap1 T C 19: 41,316,284 (GRCm39) D326G probably benign Het
Plaa G T 4: 94,474,645 (GRCm39) D252E probably damaging Het
Plxna2 G A 1: 194,480,040 (GRCm39) V1404I probably benign Het
Ppargc1a G A 5: 51,631,564 (GRCm39) A355V possibly damaging Het
Primpol A G 8: 47,039,726 (GRCm39) S350P probably benign Het
Prlr T C 15: 10,328,883 (GRCm39) S453P probably benign Het
Psmd5 T C 2: 34,742,564 (GRCm39) probably benign Het
Robo2 A T 16: 73,768,079 (GRCm39) V571E probably damaging Het
Sbspon A T 1: 15,929,264 (GRCm39) S176T possibly damaging Het
Scyl2 G A 10: 89,476,325 (GRCm39) probably benign Het
Sema3e T A 5: 14,280,144 (GRCm39) V341E probably damaging Het
Serpinb3b A T 1: 107,082,270 (GRCm39) F331L possibly damaging Het
Setd2 A G 9: 110,401,022 (GRCm39) H1736R probably benign Het
Sidt2 A T 9: 45,863,327 (GRCm39) D180E probably benign Het
Skint9 A T 4: 112,248,208 (GRCm39) Y179N probably benign Het
Slc27a5 T C 7: 12,722,560 (GRCm39) N638S probably benign Het
Slc6a4 T A 11: 76,904,135 (GRCm39) W197R probably damaging Het
Spag17 A T 3: 99,970,649 (GRCm39) M1278L probably benign Het
Sptbn1 T A 11: 30,092,353 (GRCm39) I471F probably damaging Het
Tasor2 A T 13: 3,616,680 (GRCm39) probably null Het
Teddm1a A G 1: 153,768,382 (GRCm39) Q282R probably benign Het
Tex35 A G 1: 156,927,295 (GRCm39) L160P probably damaging Het
Tfap2c T C 2: 172,393,438 (GRCm39) Y118H probably damaging Het
Tpp1 T C 7: 105,395,930 (GRCm39) Q533R probably benign Het
Ufc1 A G 1: 171,122,375 (GRCm39) probably benign Het
Vcpip1 A G 1: 9,817,589 (GRCm39) W265R probably damaging Het
Wdr11 C G 7: 129,202,158 (GRCm39) probably null Het
Xirp2 A G 2: 67,341,408 (GRCm39) I1216M possibly damaging Het
Zswim2 A G 2: 83,747,187 (GRCm39) probably null Het
Other mutations in Ttc13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00899:Ttc13 APN 8 125,415,586 (GRCm39) splice site probably benign
IGL01086:Ttc13 APN 8 125,402,085 (GRCm39) missense probably damaging 0.98
IGL01411:Ttc13 APN 8 125,410,024 (GRCm39) missense probably damaging 1.00
IGL01511:Ttc13 APN 8 125,403,110 (GRCm39) missense probably damaging 1.00
IGL01610:Ttc13 APN 8 125,403,083 (GRCm39) missense probably damaging 1.00
IGL01626:Ttc13 APN 8 125,400,477 (GRCm39) splice site probably benign
IGL01967:Ttc13 APN 8 125,439,386 (GRCm39) missense probably damaging 0.99
IGL01995:Ttc13 APN 8 125,415,621 (GRCm39) missense probably damaging 1.00
IGL02456:Ttc13 APN 8 125,417,100 (GRCm39) critical splice acceptor site probably null
IGL02816:Ttc13 APN 8 125,439,415 (GRCm39) missense possibly damaging 0.89
3-1:Ttc13 UTSW 8 125,405,748 (GRCm39) missense possibly damaging 0.81
LCD18:Ttc13 UTSW 8 125,402,605 (GRCm39) intron probably benign
R0126:Ttc13 UTSW 8 125,410,030 (GRCm39) missense probably damaging 0.99
R0391:Ttc13 UTSW 8 125,401,140 (GRCm39) missense probably damaging 1.00
R0602:Ttc13 UTSW 8 125,401,105 (GRCm39) missense probably damaging 0.99
R0629:Ttc13 UTSW 8 125,401,105 (GRCm39) missense probably damaging 0.99
R0638:Ttc13 UTSW 8 125,401,105 (GRCm39) missense probably damaging 0.99
R0714:Ttc13 UTSW 8 125,401,105 (GRCm39) missense probably damaging 0.99
R1981:Ttc13 UTSW 8 125,440,926 (GRCm39) critical splice donor site probably null
R2051:Ttc13 UTSW 8 125,398,950 (GRCm39) splice site probably null
R2324:Ttc13 UTSW 8 125,405,796 (GRCm39) missense probably damaging 1.00
R2404:Ttc13 UTSW 8 125,405,736 (GRCm39) splice site probably benign
R2571:Ttc13 UTSW 8 125,410,538 (GRCm39) missense probably damaging 1.00
R3110:Ttc13 UTSW 8 125,410,573 (GRCm39) missense possibly damaging 0.90
R3112:Ttc13 UTSW 8 125,410,573 (GRCm39) missense possibly damaging 0.90
R4560:Ttc13 UTSW 8 125,402,016 (GRCm39) missense probably damaging 1.00
R4562:Ttc13 UTSW 8 125,402,016 (GRCm39) missense probably damaging 1.00
R4563:Ttc13 UTSW 8 125,402,016 (GRCm39) missense probably damaging 1.00
R4565:Ttc13 UTSW 8 125,408,826 (GRCm39) missense probably damaging 1.00
R4998:Ttc13 UTSW 8 125,406,795 (GRCm39) missense probably damaging 1.00
R5137:Ttc13 UTSW 8 125,421,674 (GRCm39) nonsense probably null
R5397:Ttc13 UTSW 8 125,402,002 (GRCm39) missense possibly damaging 0.94
R5619:Ttc13 UTSW 8 125,406,683 (GRCm39) intron probably benign
R5966:Ttc13 UTSW 8 125,408,959 (GRCm39) intron probably benign
R6092:Ttc13 UTSW 8 125,405,772 (GRCm39) missense probably benign 0.36
R6321:Ttc13 UTSW 8 125,409,930 (GRCm39) missense probably damaging 1.00
R6439:Ttc13 UTSW 8 125,400,221 (GRCm39) missense probably benign 0.02
R6737:Ttc13 UTSW 8 125,408,900 (GRCm39) critical splice acceptor site probably null
R6804:Ttc13 UTSW 8 125,426,426 (GRCm39) missense probably damaging 1.00
R6967:Ttc13 UTSW 8 125,415,357 (GRCm39) missense probably benign 0.17
R7542:Ttc13 UTSW 8 125,401,842 (GRCm39) splice site probably null
R7905:Ttc13 UTSW 8 125,415,335 (GRCm39) missense probably benign 0.09
R8769:Ttc13 UTSW 8 125,405,816 (GRCm39) missense possibly damaging 0.71
R8792:Ttc13 UTSW 8 125,401,099 (GRCm39) critical splice donor site probably null
R8916:Ttc13 UTSW 8 125,409,976 (GRCm39) missense probably damaging 0.96
R8953:Ttc13 UTSW 8 125,402,088 (GRCm39) missense probably damaging 1.00
R9149:Ttc13 UTSW 8 125,410,039 (GRCm39) missense probably benign 0.01
R9151:Ttc13 UTSW 8 125,402,021 (GRCm39) missense probably benign 0.03
R9221:Ttc13 UTSW 8 125,400,290 (GRCm39) missense probably benign 0.20
R9251:Ttc13 UTSW 8 125,401,992 (GRCm39) missense probably benign 0.17
R9502:Ttc13 UTSW 8 125,410,010 (GRCm39) missense possibly damaging 0.93
R9600:Ttc13 UTSW 8 125,415,284 (GRCm39) missense probably benign 0.32
X0027:Ttc13 UTSW 8 125,400,328 (GRCm39) missense probably benign
Z1176:Ttc13 UTSW 8 125,421,581 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GAAGAAACAATGGGAACTTCTTGTG -3'
(R):5'- AAGAGGTTTGTCCAGGTCGG -3'

Sequencing Primer
(F):5'- ACAATGGGAACTTCTTGTGATTTG -3'
(R):5'- CACCTTGAAGGGATTTAGCGTCAC -3'
Posted On 2016-03-01