Incidental Mutation 'R9116:Ttc12'
ID 692546
Institutional Source Beutler Lab
Gene Symbol Ttc12
Ensembl Gene ENSMUSG00000040219
Gene Name tetratricopeptide repeat domain 12
Synonyms E330017O07Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R9116 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 49348263-49397525 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49364757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 340 (M340V)
Ref Sequence ENSEMBL: ENSMUSP00000056378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055096]
AlphaFold Q8BW49
Predicted Effect probably benign
Transcript: ENSMUST00000055096
AA Change: M340V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000056378
Gene: ENSMUSG00000040219
AA Change: M340V

DomainStartEndE-ValueType
coiled coil region 1 29 N/A INTRINSIC
low complexity region 88 102 N/A INTRINSIC
TPR 105 138 9.39e-1 SMART
TPR 139 172 1.97e-3 SMART
TPR 173 206 1.09e-5 SMART
low complexity region 356 368 N/A INTRINSIC
low complexity region 602 613 N/A INTRINSIC
Blast:ARM 634 675 1e-7 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (76/76)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,838,973 (GRCm39) L689Q Het
Abcc2 G A 19: 43,793,391 (GRCm39) V348M probably benign Het
Abhd5 T C 9: 122,196,992 (GRCm39) S60P probably benign Het
Adamts10 C A 17: 33,756,330 (GRCm39) H324Q probably benign Het
Akap1 A G 11: 88,723,165 (GRCm39) L823P probably damaging Het
Aoc1 G A 6: 48,885,522 (GRCm39) V676I probably damaging Het
Arhgef12 T C 9: 42,893,241 (GRCm39) probably benign Het
Arl4d A C 11: 101,557,620 (GRCm39) S49R possibly damaging Het
Atr A G 9: 95,747,851 (GRCm39) I378V probably benign Het
Bicd1 G A 6: 149,385,674 (GRCm39) V136I probably benign Het
Brd1 A T 15: 88,585,374 (GRCm39) L820H possibly damaging Het
Cfap70 T C 14: 20,497,590 (GRCm39) T55A probably benign Het
Cog7 G T 7: 121,570,561 (GRCm39) N182K probably damaging Het
Col4a4 T A 1: 82,431,752 (GRCm39) T1511S unknown Het
Cr2 A T 1: 194,840,977 (GRCm39) Y438* probably null Het
Ctnnbl1 T A 2: 157,648,623 (GRCm39) V198E probably damaging Het
Fam117b C T 1: 60,018,456 (GRCm39) Q58* probably null Het
Fam171a2 A G 11: 102,330,519 (GRCm39) Y288H probably damaging Het
Fam186a A T 15: 99,840,472 (GRCm39) I1924K possibly damaging Het
Fancd2 A G 6: 113,532,180 (GRCm39) I498V probably benign Het
Fat3 T A 9: 15,909,421 (GRCm39) I2194F probably benign Het
Flg2 T C 3: 93,109,591 (GRCm39) S540P unknown Het
Gbp9 T C 5: 105,231,695 (GRCm39) Y297C Het
Gck T G 11: 5,854,377 (GRCm39) N283H possibly damaging Het
Gm13941 A T 2: 110,935,146 (GRCm39) L28Q unknown Het
Gpr155 A G 2: 73,204,109 (GRCm39) I235T possibly damaging Het
Junb A C 8: 85,704,052 (GRCm39) L336R probably damaging Het
Krt14 A T 11: 100,095,904 (GRCm39) M218K probably benign Het
Leprotl1 A G 8: 34,604,967 (GRCm39) V102A probably benign Het
Lrrc8d T C 5: 105,961,908 (GRCm39) F773L probably damaging Het
Mad2l1bp G A 17: 46,458,958 (GRCm39) R191C probably damaging Het
Man1c1 C T 4: 134,311,705 (GRCm39) V274M possibly damaging Het
Mtor C A 4: 148,637,198 (GRCm39) P2466T probably benign Het
Mycbpap C A 11: 94,398,032 (GRCm39) probably benign Het
Myef2l G A 3: 10,153,593 (GRCm39) V121M probably damaging Het
Myo18b T C 5: 112,975,862 (GRCm39) E1329G probably damaging Het
Nipbl A T 15: 8,380,340 (GRCm39) D817E probably benign Het
Nthl1 C T 17: 24,853,753 (GRCm39) Q133* probably null Het
Nup133 A G 8: 124,660,155 (GRCm39) M381T probably benign Het
Or13c7 T C 4: 43,854,602 (GRCm39) C98R probably damaging Het
Or2j3 T C 17: 38,615,654 (GRCm39) T233A probably benign Het
Or51t4 T C 7: 102,598,527 (GRCm39) I285T possibly damaging Het
Or7e175 T C 9: 20,048,633 (GRCm39) Y74H probably damaging Het
Or7g20 T C 9: 18,946,773 (GRCm39) M118T probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pmm1 C T 15: 81,839,896 (GRCm39) R143H probably damaging Het
Pmpcb A T 5: 21,961,608 (GRCm39) I422F probably damaging Het
Prpf8 T A 11: 75,380,589 (GRCm39) H97Q possibly damaging Het
Psat1 A G 19: 15,898,332 (GRCm39) L30P probably damaging Het
Rag1 T C 2: 101,472,820 (GRCm39) D774G probably damaging Het
Rag1 C T 2: 101,475,137 (GRCm39) A2T probably benign Het
Rccd1 G T 7: 79,970,728 (GRCm39) F17L probably damaging Het
Rhobtb1 T A 10: 69,106,579 (GRCm39) D443E probably damaging Het
Rnf13 A G 3: 57,709,866 (GRCm39) probably null Het
Ryr2 A G 13: 11,587,185 (GRCm39) S4699P possibly damaging Het
Scart1 A G 7: 139,808,277 (GRCm39) T754A probably benign Het
Sdc3 T C 4: 130,546,352 (GRCm39) V237A probably benign Het
Serinc5 T A 13: 92,797,514 (GRCm39) probably benign Het
Sertad4 A G 1: 192,528,973 (GRCm39) I281T probably benign Het
Shroom1 T C 11: 53,354,490 (GRCm39) S137P probably damaging Het
Slurp1 C T 15: 74,599,450 (GRCm39) G20D probably damaging Het
Sncb T A 13: 54,910,512 (GRCm39) N75Y probably damaging Het
Spag8 C T 4: 43,653,231 (GRCm39) G77S unknown Het
Spink14 A T 18: 44,164,059 (GRCm39) I76F probably damaging Het
Srfbp1 A T 18: 52,623,102 (GRCm39) E372D possibly damaging Het
Synpo A T 18: 60,735,599 (GRCm39) N782K probably damaging Het
Syt7 T C 19: 10,421,373 (GRCm39) M519T probably damaging Het
Tlr5 C T 1: 182,802,160 (GRCm39) P488L probably benign Het
Tmod3 A T 9: 75,412,202 (GRCm39) I315N probably damaging Het
Ttn T A 2: 76,710,959 (GRCm39) I8392F unknown Het
Ttn A G 2: 76,769,232 (GRCm39) V2822A unknown Het
Ube3b C T 5: 114,542,837 (GRCm39) probably benign Het
Ubr4 C A 4: 139,145,785 (GRCm39) N238K Het
Vmn2r12 T C 5: 109,233,885 (GRCm39) T776A probably damaging Het
Vps50 G A 6: 3,588,091 (GRCm39) probably benign Het
Vwa3a A G 7: 120,366,470 (GRCm39) D165G Het
Wdr17 T A 8: 55,114,605 (GRCm39) H644L probably damaging Het
Zfp628 T C 7: 4,924,202 (GRCm39) V808A probably benign Het
Zscan21 T A 5: 138,123,937 (GRCm39) D205E probably damaging Het
Other mutations in Ttc12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Ttc12 APN 9 49,382,506 (GRCm39) splice site probably null
IGL01300:Ttc12 APN 9 49,359,222 (GRCm39) splice site probably benign
IGL02100:Ttc12 APN 9 49,351,482 (GRCm39) missense probably damaging 1.00
IGL03106:Ttc12 APN 9 49,369,362 (GRCm39) missense possibly damaging 0.75
I2288:Ttc12 UTSW 9 49,381,558 (GRCm39) missense possibly damaging 0.62
R1238:Ttc12 UTSW 9 49,369,487 (GRCm39) splice site probably benign
R1712:Ttc12 UTSW 9 49,356,499 (GRCm39) missense probably benign
R1725:Ttc12 UTSW 9 49,369,415 (GRCm39) missense probably benign 0.08
R1824:Ttc12 UTSW 9 49,368,184 (GRCm39) missense probably damaging 1.00
R1916:Ttc12 UTSW 9 49,371,698 (GRCm39) missense probably damaging 1.00
R2226:Ttc12 UTSW 9 49,353,135 (GRCm39) critical splice donor site probably null
R4498:Ttc12 UTSW 9 49,383,705 (GRCm39) missense probably damaging 1.00
R5920:Ttc12 UTSW 9 49,364,633 (GRCm39) missense possibly damaging 0.48
R6020:Ttc12 UTSW 9 49,354,422 (GRCm39) missense probably damaging 0.96
R6687:Ttc12 UTSW 9 49,349,718 (GRCm39) missense probably benign 0.08
R6755:Ttc12 UTSW 9 49,364,646 (GRCm39) missense probably benign 0.00
R6975:Ttc12 UTSW 9 49,349,718 (GRCm39) missense probably benign 0.08
R7349:Ttc12 UTSW 9 49,359,267 (GRCm39) missense possibly damaging 0.94
R7357:Ttc12 UTSW 9 49,349,687 (GRCm39) missense probably benign 0.02
R7451:Ttc12 UTSW 9 49,383,179 (GRCm39) missense probably benign 0.00
R7725:Ttc12 UTSW 9 49,351,602 (GRCm39) missense probably benign 0.00
R7842:Ttc12 UTSW 9 49,349,724 (GRCm39) missense possibly damaging 0.80
R7943:Ttc12 UTSW 9 49,381,620 (GRCm39) missense possibly damaging 0.53
R8029:Ttc12 UTSW 9 49,381,551 (GRCm39) missense possibly damaging 0.83
R8862:Ttc12 UTSW 9 49,351,515 (GRCm39) missense probably benign 0.10
R8965:Ttc12 UTSW 9 49,349,718 (GRCm39) missense probably benign 0.08
R9342:Ttc12 UTSW 9 49,351,680 (GRCm39) missense probably benign 0.00
R9762:Ttc12 UTSW 9 49,368,166 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CAATCTGATGGCGACTAGACAC -3'
(R):5'- CCCGGAGTCCCATTCTTATG -3'

Sequencing Primer
(F):5'- GTCTATTTCATGATAACCCCAGGG -3'
(R):5'- CTTATGGGTAACATTATGCTGCC -3'
Posted On 2021-12-30