Incidental Mutation 'R2404:Ttc13'
ID 248866
Institutional Source Beutler Lab
Gene Symbol Ttc13
Ensembl Gene ENSMUSG00000037300
Gene Name tetratricopeptide repeat domain 13
Synonyms
MMRRC Submission 040370-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2404 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 125398071-125448722 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 125405736 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041614] [ENSMUST00000117624] [ENSMUST00000118134] [ENSMUST00000214828] [ENSMUST00000231984]
AlphaFold A0A1L1SSC7
Predicted Effect probably benign
Transcript: ENSMUST00000041614
SMART Domains Protein: ENSMUSP00000038484
Gene: ENSMUSG00000037300

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 benign
Transcript: ENSMUST00000117624
SMART Domains Protein: ENSMUSP00000114043
Gene: ENSMUSG00000037300

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 benign
Transcript: ENSMUST00000118134
SMART Domains Protein: ENSMUSP00000113383
Gene: ENSMUSG00000037300

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: ENSMUST00000128390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131633
Predicted Effect probably benign
Transcript: ENSMUST00000214828
Predicted Effect probably benign
Transcript: ENSMUST00000231984
Meta Mutation Damage Score 0.1317 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.2%
Validation Efficiency 98% (52/53)
Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 130,740,923 (GRCm39) T98A possibly damaging Het
Aifm2 A G 10: 61,563,974 (GRCm39) I161V probably benign Het
Arhgef26 T C 3: 62,336,336 (GRCm39) M625T possibly damaging Het
Atp9a T A 2: 168,517,283 (GRCm39) probably null Het
Avpr1a T C 10: 122,285,115 (GRCm39) F136L possibly damaging Het
Bcas3 T C 11: 85,245,715 (GRCm39) probably benign Het
Bnc1 A T 7: 81,618,463 (GRCm39) H867Q probably benign Het
Cdh12 C T 15: 21,537,720 (GRCm39) T407I probably damaging Het
Chd5 C T 4: 152,451,791 (GRCm39) T701M probably damaging Het
Dhx57 A G 17: 80,561,733 (GRCm39) V927A probably damaging Het
Dnah2 A G 11: 69,328,047 (GRCm39) F3353L probably damaging Het
Ect2 G A 3: 27,185,999 (GRCm39) P495S probably benign Het
Egfl7 G A 2: 26,479,162 (GRCm39) E25K possibly damaging Het
Gm5117 T C 8: 32,227,306 (GRCm39) noncoding transcript Het
Hbs1l A T 10: 21,171,946 (GRCm39) probably benign Het
Insrr C T 3: 87,709,974 (GRCm39) T309I possibly damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kif12 A C 4: 63,088,790 (GRCm39) L170R probably damaging Het
Krt90 A G 15: 101,463,105 (GRCm39) probably null Het
Mcu A G 10: 59,303,526 (GRCm39) S104P probably damaging Het
Mical3 G A 6: 120,936,789 (GRCm39) P374S probably benign Het
Ncam2 A T 16: 81,287,128 (GRCm39) probably benign Het
Or12e9 A G 2: 87,202,568 (GRCm39) I231V probably benign Het
Or2t47 A T 11: 58,442,546 (GRCm39) I173N probably damaging Het
Or2w1b T C 13: 21,300,012 (GRCm39) L50P probably damaging Het
Or5k17 G A 16: 58,745,998 (GRCm39) S312L probably benign Het
Otud7a A G 7: 63,346,899 (GRCm39) S158G probably benign Het
Phlpp1 C T 1: 106,100,569 (GRCm39) T279M probably benign Het
Pkhd1l1 T G 15: 44,414,216 (GRCm39) W2828G probably damaging Het
Pnma8a A T 7: 16,694,316 (GRCm39) N57I probably damaging Het
Ppp4r4 A G 12: 103,547,749 (GRCm39) probably null Het
Ptprq T C 10: 107,522,460 (GRCm39) Y531C probably damaging Het
Rai1 A G 11: 60,080,750 (GRCm39) T1605A probably benign Het
Satb2 T C 1: 56,987,267 (GRCm39) Y106C probably damaging Het
Sgms1 G A 19: 32,137,072 (GRCm39) R165* probably null Het
Slc19a3 T A 1: 83,000,756 (GRCm39) H87L probably benign Het
Slc4a7 G T 14: 14,733,733 (GRCm38) V54L probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Spen T C 4: 141,205,216 (GRCm39) N1137S unknown Het
Spice1 T C 16: 44,186,989 (GRCm39) I162T probably benign Het
Spmip1 G A 6: 29,473,390 (GRCm39) R173Q probably benign Het
Sqor A T 2: 122,649,943 (GRCm39) T396S probably benign Het
Tshz3 A T 7: 36,469,805 (GRCm39) Q598L probably damaging Het
Ubxn2a T C 12: 4,933,851 (GRCm39) T187A probably benign Het
Usp28 T C 9: 48,948,558 (GRCm39) probably null Het
Zc3h12a T C 4: 125,013,316 (GRCm39) Y516C probably damaging Het
Zfp616 A C 11: 73,975,682 (GRCm39) K650N probably damaging 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
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
R4855:Ttc13 UTSW 8 125,401,174 (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'- GCGCAACAGTCACATATGTG -3'
(R):5'- GAGCTGCTTGTCCTTAGGAG -3'

Sequencing Primer
(F):5'- GCAACAGTCACATATGTGCTTTGG -3'
(R):5'- CCTTAGGAGCAGTTATTTAAGACGTG -3'
Posted On 2014-11-11