Incidental Mutation 'R5851:Ttc28'
ID 454662
Institutional Source Beutler Lab
Gene Symbol Ttc28
Ensembl Gene ENSMUSG00000033209
Gene Name tetratricopeptide repeat domain 28
Synonyms
MMRRC Submission 044067-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5851 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 110879803-111289780 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 111235469 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137609 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040111] [ENSMUST00000156290]
AlphaFold Q80XJ3
Predicted Effect probably benign
Transcript: ENSMUST00000040111
SMART Domains Protein: ENSMUSP00000136116
Gene: ENSMUSG00000033209

DomainStartEndE-ValueType
low complexity region 4 28 N/A INTRINSIC
TPR 52 85 2.84e1 SMART
TPR 86 119 5.03e-1 SMART
TPR 120 153 2.11e-3 SMART
TPR 268 301 8.51e0 SMART
TPR 339 372 1.78e-1 SMART
TPR 379 412 2.82e-4 SMART
TPR 419 452 9.98e-5 SMART
TPR 459 492 1.88e0 SMART
TPR 499 532 1.11e1 SMART
TPR 539 572 2.93e-2 SMART
TPR 579 612 1.21e-3 SMART
TPR 619 652 4.91e-4 SMART
TPR 659 692 7.56e-5 SMART
TPR 699 732 8.29e0 SMART
TPR 739 772 1.63e0 SMART
TPR 779 812 1.24e0 SMART
TPR 819 852 7.98e-4 SMART
TPR 859 892 8.74e0 SMART
TPR 902 935 5.43e-6 SMART
TPR 942 975 4.09e-1 SMART
TPR 982 1015 9.98e-5 SMART
TPR 1022 1055 7.12e-1 SMART
TPR 1062 1095 5.69e0 SMART
TPR 1102 1135 3.14e-2 SMART
TPR 1142 1175 2.84e1 SMART
low complexity region 1259 1277 N/A INTRINSIC
Pfam:CHAT 1415 1738 7.3e-77 PFAM
low complexity region 1972 1990 N/A INTRINSIC
low complexity region 2014 2031 N/A INTRINSIC
low complexity region 2033 2045 N/A INTRINSIC
low complexity region 2155 2171 N/A INTRINSIC
low complexity region 2283 2293 N/A INTRINSIC
low complexity region 2327 2352 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129017
Predicted Effect probably benign
Transcript: ENSMUST00000156290
SMART Domains Protein: ENSMUSP00000137609
Gene: ENSMUSG00000033209

DomainStartEndE-ValueType
low complexity region 4 28 N/A INTRINSIC
TPR 52 85 2.84e1 SMART
TPR 86 119 5.03e-1 SMART
TPR 120 153 2.11e-3 SMART
TPR 268 301 8.51e0 SMART
TPR 308 341 1.78e-1 SMART
TPR 348 381 2.82e-4 SMART
TPR 388 421 9.98e-5 SMART
TPR 428 461 1.88e0 SMART
TPR 468 501 1.11e1 SMART
TPR 508 541 2.93e-2 SMART
TPR 548 581 1.21e-3 SMART
TPR 588 621 4.91e-4 SMART
TPR 628 661 7.56e-5 SMART
TPR 668 701 8.29e0 SMART
TPR 708 741 1.63e0 SMART
TPR 748 781 1.24e0 SMART
TPR 788 821 7.98e-4 SMART
TPR 828 861 8.74e0 SMART
TPR 871 904 5.43e-6 SMART
TPR 911 944 4.09e-1 SMART
TPR 951 984 9.98e-5 SMART
TPR 991 1024 7.12e-1 SMART
TPR 1031 1064 5.69e0 SMART
TPR 1071 1104 3.14e-2 SMART
TPR 1111 1144 2.84e1 SMART
low complexity region 1228 1246 N/A INTRINSIC
Pfam:CHAT 1384 1707 1.1e-76 PFAM
low complexity region 1941 1959 N/A INTRINSIC
low complexity region 1983 2000 N/A INTRINSIC
low complexity region 2002 2014 N/A INTRINSIC
low complexity region 2124 2140 N/A INTRINSIC
low complexity region 2252 2262 N/A INTRINSIC
low complexity region 2296 2321 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930404N11Rik A T 10: 81,364,877 (GRCm38) probably null Het
Abca2 A G 2: 25,442,310 (GRCm38) N1452D possibly damaging Het
Abhd15 T C 11: 77,518,447 (GRCm38) L329P probably benign Het
Add3 T C 19: 53,236,774 (GRCm38) S442P probably damaging Het
Arhgef18 T C 8: 3,434,980 (GRCm38) F228L probably damaging Het
Bptf A T 11: 107,110,862 (GRCm38) Y475N probably damaging Het
C3 T C 17: 57,211,612 (GRCm38) N1257S probably null Het
Ccdc94 C T 17: 55,967,582 (GRCm38) S298F probably damaging Het
Cd163l1 C T 7: 140,228,027 (GRCm38) P704S possibly damaging Het
Cdkl1 A T 12: 69,756,564 (GRCm38) Y179* probably null Het
Ceacam1 T C 7: 25,474,600 (GRCm38) N210S possibly damaging Het
Celf3 T A 3: 94,479,126 (GRCm38) I7N probably damaging Het
Cmpk1 A G 4: 114,986,970 (GRCm38) V55A possibly damaging Het
Csrnp1 C T 9: 119,973,078 (GRCm38) G305D possibly damaging Het
Dnah3 A G 7: 120,039,362 (GRCm38) S1266P possibly damaging Het
Edc4 T C 8: 105,890,867 (GRCm38) L1077P probably damaging Het
Efcab1 T A 16: 14,920,436 (GRCm38) L155H probably damaging Het
Fam174a G A 1: 95,325,143 (GRCm38) G157S probably damaging Het
Fubp3 T A 2: 31,598,610 (GRCm38) D159E probably benign Het
Garem2 C T 5: 30,114,290 (GRCm38) T250M probably damaging Het
H2-Eb1 C T 17: 34,309,771 (GRCm38) P92L probably benign Het
Ifnl3 G T 7: 28,523,511 (GRCm38) C69F probably damaging Het
Itga2b C A 11: 102,457,601 (GRCm38) probably benign Het
Klhl33 A T 14: 50,892,878 (GRCm38) D386E probably damaging Het
Lin9 T A 1: 180,669,198 (GRCm38) L351I probably benign Het
Lor G A 3: 92,080,539 (GRCm38) A480V unknown Het
Msh3 G T 13: 92,215,522 (GRCm38) Q1041K probably benign Het
Myo1e G A 9: 70,383,804 (GRCm38) G959E probably benign Het
Nfat5 G T 8: 107,347,727 (GRCm38) V338L probably damaging Het
Nrf1 A G 6: 30,089,976 (GRCm38) H18R possibly damaging Het
Nup160 A G 2: 90,707,038 (GRCm38) D752G probably benign Het
Obscn A T 11: 58,994,700 (GRCm38) L2489* probably null Het
Olfr1184 A G 2: 88,486,860 (GRCm38) I43V possibly damaging Het
Olfr638 A G 7: 104,003,452 (GRCm38) E59G probably benign Het
Paip1 T C 13: 119,440,765 (GRCm38) S215P possibly damaging Het
Pate2 T A 9: 35,670,501 (GRCm38) Y26* probably null Het
Pcdhb10 A G 18: 37,412,758 (GRCm38) I296V probably benign Het
Pdzph1 T G 17: 58,973,746 (GRCm38) T514P probably benign Het
Pnlip G A 19: 58,673,792 (GRCm38) W123* probably null Het
Prmt2 C A 10: 76,236,740 (GRCm38) C9F possibly damaging Het
Rbl1 T A 2: 157,167,325 (GRCm38) K763N probably benign Het
Rfk C T 19: 17,395,198 (GRCm38) A28V probably damaging Het
Sdk1 G A 5: 141,962,669 (GRCm38) V590I probably benign Het
Sele A G 1: 164,049,574 (GRCm38) K140E probably benign Het
Skiv2l2 G A 13: 112,908,952 (GRCm38) R349W probably damaging Het
Sla G A 15: 66,783,723 (GRCm38) T189I probably damaging Het
Slc46a2 A G 4: 59,913,906 (GRCm38) V339A probably damaging Het
Slc5a9 A G 4: 111,885,600 (GRCm38) F432L probably benign Het
Slc6a19 A G 13: 73,691,740 (GRCm38) F141S possibly damaging Het
Tas2r123 T C 6: 132,847,308 (GRCm38) L56S probably damaging Het
Tmem245 T C 4: 56,916,770 (GRCm38) I53V probably benign Het
Tor2a A T 2: 32,761,607 (GRCm38) Q278L probably benign Het
Trav6-3 A G 14: 53,430,115 (GRCm38) M15V probably benign Het
Ubap2 G A 4: 41,206,268 (GRCm38) Q534* probably null Het
Zfp954 C A 7: 7,115,625 (GRCm38) E307* probably null Het
Zscan21 A G 5: 138,126,478 (GRCm38) K219E probably benign Het
Other mutations in Ttc28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Ttc28 APN 5 111,225,688 (GRCm38) missense probably damaging 1.00
IGL00963:Ttc28 APN 5 111,286,389 (GRCm38) nonsense probably null
IGL00969:Ttc28 APN 5 111,225,740 (GRCm38) missense probably benign 0.00
IGL01366:Ttc28 APN 5 111,085,171 (GRCm38) critical splice donor site probably null
IGL01528:Ttc28 APN 5 111,101,960 (GRCm38) splice site probably benign
IGL01558:Ttc28 APN 5 111,283,962 (GRCm38) missense probably damaging 0.99
IGL01973:Ttc28 APN 5 111,224,235 (GRCm38) missense possibly damaging 0.88
IGL02040:Ttc28 APN 5 110,892,936 (GRCm38) nonsense probably null
IGL02432:Ttc28 APN 5 111,223,235 (GRCm38) missense probably damaging 1.00
IGL02531:Ttc28 APN 5 111,225,850 (GRCm38) missense probably damaging 1.00
IGL02819:Ttc28 APN 5 111,266,583 (GRCm38) missense probably benign
IGL02830:Ttc28 APN 5 111,286,239 (GRCm38) missense probably benign 0.10
IGL02893:Ttc28 APN 5 111,285,385 (GRCm38) missense possibly damaging 0.87
IGL03387:Ttc28 APN 5 111,233,342 (GRCm38) missense probably benign 0.07
PIT4131001:Ttc28 UTSW 5 110,892,853 (GRCm38) missense probably benign 0.00
R0142:Ttc28 UTSW 5 111,277,457 (GRCm38) missense probably benign 0.40
R0166:Ttc28 UTSW 5 111,225,634 (GRCm38) missense probably benign 0.01
R0328:Ttc28 UTSW 5 111,284,067 (GRCm38) splice site probably benign
R0582:Ttc28 UTSW 5 111,183,296 (GRCm38) missense probably damaging 1.00
R0744:Ttc28 UTSW 5 111,231,081 (GRCm38) missense probably damaging 1.00
R0811:Ttc28 UTSW 5 111,235,500 (GRCm38) missense probably benign 0.24
R0812:Ttc28 UTSW 5 111,235,500 (GRCm38) missense probably benign 0.24
R0828:Ttc28 UTSW 5 111,223,446 (GRCm38) missense probably damaging 1.00
R0833:Ttc28 UTSW 5 111,231,081 (GRCm38) missense probably damaging 1.00
R1013:Ttc28 UTSW 5 111,276,965 (GRCm38) missense probably benign 0.01
R1168:Ttc28 UTSW 5 111,231,111 (GRCm38) missense probably damaging 1.00
R1194:Ttc28 UTSW 5 111,225,677 (GRCm38) missense probably damaging 1.00
R1195:Ttc28 UTSW 5 111,225,677 (GRCm38) missense probably damaging 1.00
R1195:Ttc28 UTSW 5 111,225,677 (GRCm38) missense probably damaging 1.00
R1195:Ttc28 UTSW 5 111,225,677 (GRCm38) missense probably damaging 1.00
R1196:Ttc28 UTSW 5 111,225,677 (GRCm38) missense probably damaging 1.00
R1205:Ttc28 UTSW 5 111,285,769 (GRCm38) missense probably benign 0.04
R1386:Ttc28 UTSW 5 111,225,677 (GRCm38) missense probably damaging 1.00
R1467:Ttc28 UTSW 5 111,285,388 (GRCm38) missense probably benign 0.00
R1467:Ttc28 UTSW 5 111,285,388 (GRCm38) missense probably benign 0.00
R1537:Ttc28 UTSW 5 111,285,318 (GRCm38) missense probably damaging 0.96
R1539:Ttc28 UTSW 5 111,100,811 (GRCm38) missense possibly damaging 0.77
R1558:Ttc28 UTSW 5 111,225,677 (GRCm38) missense probably damaging 1.00
R1560:Ttc28 UTSW 5 111,225,677 (GRCm38) missense probably damaging 1.00
R1561:Ttc28 UTSW 5 111,225,677 (GRCm38) missense probably damaging 1.00
R1566:Ttc28 UTSW 5 111,225,677 (GRCm38) missense probably damaging 1.00
R1768:Ttc28 UTSW 5 111,277,168 (GRCm38) missense possibly damaging 0.77
R1775:Ttc28 UTSW 5 111,276,811 (GRCm38) missense probably benign 0.00
R1909:Ttc28 UTSW 5 111,284,054 (GRCm38) critical splice donor site probably null
R1911:Ttc28 UTSW 5 111,280,750 (GRCm38) missense possibly damaging 0.93
R1970:Ttc28 UTSW 5 111,235,635 (GRCm38) missense probably benign 0.00
R1990:Ttc28 UTSW 5 111,276,322 (GRCm38) missense probably benign 0.37
R1992:Ttc28 UTSW 5 111,276,322 (GRCm38) missense probably benign 0.37
R2066:Ttc28 UTSW 5 111,225,933 (GRCm38) missense probably benign 0.01
R2112:Ttc28 UTSW 5 111,276,273 (GRCm38) missense probably damaging 0.99
R2158:Ttc28 UTSW 5 111,177,617 (GRCm38) intron probably benign
R2192:Ttc28 UTSW 5 111,223,496 (GRCm38) missense probably damaging 0.99
R2267:Ttc28 UTSW 5 111,226,003 (GRCm38) missense possibly damaging 0.75
R2384:Ttc28 UTSW 5 111,276,208 (GRCm38) missense possibly damaging 0.95
R2989:Ttc28 UTSW 5 111,224,015 (GRCm38) missense probably benign 0.29
R3881:Ttc28 UTSW 5 111,183,240 (GRCm38) missense probably damaging 1.00
R3919:Ttc28 UTSW 5 111,285,379 (GRCm38) missense possibly damaging 0.80
R4455:Ttc28 UTSW 5 111,224,058 (GRCm38) frame shift probably null
R4456:Ttc28 UTSW 5 111,224,058 (GRCm38) frame shift probably null
R4522:Ttc28 UTSW 5 111,280,172 (GRCm38) missense probably benign 0.01
R4548:Ttc28 UTSW 5 111,271,224 (GRCm38) missense possibly damaging 0.86
R4591:Ttc28 UTSW 5 111,223,281 (GRCm38) missense probably damaging 1.00
R4633:Ttc28 UTSW 5 111,224,001 (GRCm38) missense probably damaging 1.00
R4700:Ttc28 UTSW 5 111,277,043 (GRCm38) missense probably damaging 1.00
R4714:Ttc28 UTSW 5 111,285,229 (GRCm38) missense possibly damaging 0.65
R4790:Ttc28 UTSW 5 111,224,217 (GRCm38) missense possibly damaging 0.94
R4803:Ttc28 UTSW 5 111,277,463 (GRCm38) missense possibly damaging 0.90
R4840:Ttc28 UTSW 5 111,286,081 (GRCm38) missense probably damaging 1.00
R4969:Ttc28 UTSW 5 111,276,255 (GRCm38) missense probably damaging 0.96
R5019:Ttc28 UTSW 5 111,102,064 (GRCm38) missense possibly damaging 0.47
R5130:Ttc28 UTSW 5 110,892,856 (GRCm38) missense probably benign
R5150:Ttc28 UTSW 5 111,225,689 (GRCm38) missense probably damaging 1.00
R5214:Ttc28 UTSW 5 111,177,623 (GRCm38) intron probably benign
R5254:Ttc28 UTSW 5 111,271,238 (GRCm38) missense probably benign 0.01
R5518:Ttc28 UTSW 5 111,225,928 (GRCm38) missense probably benign 0.17
R5931:Ttc28 UTSW 5 111,085,109 (GRCm38) missense possibly damaging 0.81
R6011:Ttc28 UTSW 5 111,286,443 (GRCm38) missense probably benign
R6176:Ttc28 UTSW 5 111,223,985 (GRCm38) missense probably damaging 1.00
R6221:Ttc28 UTSW 5 111,271,248 (GRCm38) missense probably benign 0.00
R6398:Ttc28 UTSW 5 111,276,276 (GRCm38) missense probably damaging 1.00
R6717:Ttc28 UTSW 5 111,285,436 (GRCm38) missense probably benign
R6770:Ttc28 UTSW 5 111,286,140 (GRCm38) missense probably damaging 1.00
R6901:Ttc28 UTSW 5 111,277,025 (GRCm38) missense possibly damaging 0.88
R7038:Ttc28 UTSW 5 111,266,579 (GRCm38) missense probably benign 0.09
R7073:Ttc28 UTSW 5 111,223,416 (GRCm38) missense possibly damaging 0.96
R7101:Ttc28 UTSW 5 111,085,092 (GRCm38) missense probably damaging 1.00
R7135:Ttc28 UTSW 5 111,280,007 (GRCm38) missense probably damaging 1.00
R7350:Ttc28 UTSW 5 111,226,037 (GRCm38) missense probably damaging 0.97
R7454:Ttc28 UTSW 5 111,285,484 (GRCm38) missense probably benign 0.19
R7461:Ttc28 UTSW 5 111,224,129 (GRCm38) missense probably damaging 1.00
R7596:Ttc28 UTSW 5 111,280,124 (GRCm38) missense probably damaging 1.00
R7613:Ttc28 UTSW 5 111,224,129 (GRCm38) missense probably damaging 1.00
R7625:Ttc28 UTSW 5 111,285,219 (GRCm38) missense possibly damaging 0.65
R7648:Ttc28 UTSW 5 111,183,392 (GRCm38) missense possibly damaging 0.52
R7735:Ttc28 UTSW 5 111,266,678 (GRCm38) splice site probably null
R8030:Ttc28 UTSW 5 111,286,056 (GRCm38) missense possibly damaging 0.81
R8205:Ttc28 UTSW 5 111,225,730 (GRCm38) missense possibly damaging 0.95
R8246:Ttc28 UTSW 5 111,233,341 (GRCm38) missense probably benign 0.33
R8247:Ttc28 UTSW 5 111,233,341 (GRCm38) missense probably benign 0.33
R8269:Ttc28 UTSW 5 111,277,459 (GRCm38) missense probably benign 0.09
R8292:Ttc28 UTSW 5 111,223,257 (GRCm38) missense probably damaging 1.00
R8346:Ttc28 UTSW 5 111,233,341 (GRCm38) missense probably benign 0.33
R8356:Ttc28 UTSW 5 111,233,341 (GRCm38) missense probably benign 0.33
R8423:Ttc28 UTSW 5 111,233,341 (GRCm38) missense probably benign 0.33
R8424:Ttc28 UTSW 5 111,233,341 (GRCm38) missense probably benign 0.33
R8426:Ttc28 UTSW 5 111,233,341 (GRCm38) missense probably benign 0.33
R8441:Ttc28 UTSW 5 111,177,641 (GRCm38) nonsense probably null
R8494:Ttc28 UTSW 5 111,235,640 (GRCm38) missense probably damaging 0.96
R8508:Ttc28 UTSW 5 111,233,341 (GRCm38) missense probably benign 0.33
R8510:Ttc28 UTSW 5 111,233,341 (GRCm38) missense probably benign 0.33
R8729:Ttc28 UTSW 5 111,235,643 (GRCm38) critical splice donor site probably null
R8845:Ttc28 UTSW 5 111,224,175 (GRCm38) missense probably benign 0.11
R9003:Ttc28 UTSW 5 111,277,030 (GRCm38) missense probably benign 0.00
R9185:Ttc28 UTSW 5 111,223,476 (GRCm38) missense probably benign 0.03
R9187:Ttc28 UTSW 5 111,102,036 (GRCm38) missense probably damaging 1.00
R9245:Ttc28 UTSW 5 111,177,659 (GRCm38) missense unknown
R9251:Ttc28 UTSW 5 110,892,832 (GRCm38) missense possibly damaging 0.47
R9372:Ttc28 UTSW 5 111,183,207 (GRCm38) missense probably benign 0.25
R9466:Ttc28 UTSW 5 111,183,029 (GRCm38) missense probably damaging 0.99
R9563:Ttc28 UTSW 5 111,223,226 (GRCm38) missense probably benign 0.22
R9606:Ttc28 UTSW 5 111,285,274 (GRCm38) missense probably benign 0.00
R9691:Ttc28 UTSW 5 111,284,013 (GRCm38) missense probably benign 0.01
R9709:Ttc28 UTSW 5 111,285,771 (GRCm38) missense probably damaging 0.97
V8831:Ttc28 UTSW 5 111,100,712 (GRCm38) missense probably benign 0.11
Z1088:Ttc28 UTSW 5 111,286,315 (GRCm38) missense probably benign 0.00
Z1176:Ttc28 UTSW 5 111,266,566 (GRCm38) missense possibly damaging 0.59
Z1177:Ttc28 UTSW 5 111,285,739 (GRCm38) missense probably benign 0.10
Z1177:Ttc28 UTSW 5 111,278,586 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTTCTGCACGTGTCATCAG -3'
(R):5'- TGGTGATGAACTAGGCACAGC -3'

Sequencing Primer
(F):5'- ACGTGTCATCAGAAGCTTGC -3'
(R):5'- GCCTCTTACCTGGAGTAGTAAGAC -3'
Posted On 2017-02-10