Incidental Mutation 'R5920:Ttc12'
ID 461529
Institutional Source Beutler Lab
Gene Symbol Ttc12
Ensembl Gene ENSMUSG00000040219
Gene Name tetratricopeptide repeat domain 12
Synonyms E330017O07Rik
MMRRC Submission 044117-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R5920 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 49348263-49397525 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49364633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 381 (D381G)
Ref Sequence ENSEMBL: ENSMUSP00000056378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055096]
AlphaFold Q8BW49
Predicted Effect possibly damaging
Transcript: ENSMUST00000055096
AA Change: D381G

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000056378
Gene: ENSMUSG00000040219
AA Change: D381G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146666
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.4%
  • 20x: 92.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T C 8: 25,164,091 (GRCm39) K31E probably damaging Het
Ak9 T A 10: 41,296,672 (GRCm39) C1473S probably benign Het
Aox1 T C 1: 58,088,631 (GRCm39) L139S probably damaging Het
Arhgap45 T A 10: 79,864,965 (GRCm39) V849D possibly damaging Het
Atp13a1 G A 8: 70,252,746 (GRCm39) E689K probably benign Het
Calcr G A 6: 3,722,994 (GRCm39) R11W probably damaging Het
Casd1 T A 6: 4,641,853 (GRCm39) L710Q probably null Het
Cenpc1 T A 5: 86,168,769 (GRCm39) T743S probably benign Het
Cfap43 A G 19: 47,749,335 (GRCm39) V1185A possibly damaging Het
Chd2 A G 7: 73,187,060 (GRCm39) L33P probably damaging Het
Col24a1 G T 3: 145,133,985 (GRCm39) G889C probably damaging Het
Cracdl T A 1: 37,677,062 (GRCm39) K40M probably damaging Het
Dbh T C 2: 27,067,243 (GRCm39) probably benign Het
Dcdc2c T C 12: 28,585,536 (GRCm39) I154V possibly damaging Het
Eif2b5 G T 16: 20,317,694 (GRCm39) A11S unknown Het
Frmd4a T G 2: 4,337,927 (GRCm39) N44K probably benign Het
Fsip2 C T 2: 82,818,852 (GRCm39) Q4862* probably null Het
Hectd4 C T 5: 121,446,334 (GRCm39) T1513I possibly damaging Het
Hspg2 A T 4: 137,281,093 (GRCm39) D3355V probably damaging Het
Ift56 A G 6: 38,389,005 (GRCm39) Y430C probably damaging Het
Il16 G A 7: 83,301,552 (GRCm39) T190I probably benign Het
Immt T A 6: 71,840,180 (GRCm39) V319D probably benign Het
Kdm2b G C 5: 123,018,359 (GRCm39) S989W probably damaging Het
Kmt2e A G 5: 23,704,440 (GRCm39) E1211G possibly damaging Het
Ktn1 G T 14: 47,961,481 (GRCm39) G1061* probably null Het
Mast3 T C 8: 71,240,577 (GRCm39) I287V probably benign Het
Mrgpre T A 7: 143,335,465 (GRCm39) T13S probably benign Het
Myoc C T 1: 162,467,128 (GRCm39) A99V probably benign Het
Or10a49 C A 7: 108,467,895 (GRCm39) M155I probably benign Het
Otulinl T A 15: 27,664,442 (GRCm39) R109S possibly damaging Het
Per3 G A 4: 151,096,907 (GRCm39) P873S probably benign Het
Phykpl A C 11: 51,493,622 (GRCm39) E453A probably benign Het
Pkd2l2 A T 18: 34,563,826 (GRCm39) I514L probably benign Het
Plcl2 G T 17: 50,915,703 (GRCm39) R904L probably damaging Het
Ptpn1 A G 2: 167,813,668 (GRCm39) D137G probably benign Het
Rasal3 G A 17: 32,614,143 (GRCm39) P571S probably damaging Het
Sdha A G 13: 74,475,044 (GRCm39) probably null Het
Tbc1d31 C A 15: 57,805,954 (GRCm39) Q439K probably benign Het
Uaca T A 9: 60,776,885 (GRCm39) M424K probably benign Het
Usp33 G T 3: 152,080,320 (GRCm39) A484S probably damaging Het
Usp9y A G Y: 1,316,730 (GRCm39) S1940P probably damaging Het
Zfp532 G A 18: 65,777,421 (GRCm39) V893I probably benign 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
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
R9116:Ttc12 UTSW 9 49,364,757 (GRCm39) missense probably benign
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'- AGACCTTCCTGATAGGGTTCC -3'
(R):5'- CCGACAGAACTGGCTTAAATGC -3'

Sequencing Primer
(F):5'- GGTTCCCCTCAAAGGCTC -3'
(R):5'- TCGAGGCCACTAACACCTGTG -3'
Posted On 2017-02-28