Incidental Mutation 'IGL02432:Ttc28'
ID 293176
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc28
Ensembl Gene ENSMUSG00000033209
Gene Name tetratricopeptide repeat domain 28
Synonyms TPRBK, 2310015L07Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02432
Quality Score
Status
Chromosome 5
Chromosomal Location 111027669-111437646 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 111371101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 517 (A517T)
Ref Sequence ENSEMBL: ENSMUSP00000137609 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040111] [ENSMUST00000156290]
AlphaFold Q80XJ3
Predicted Effect probably damaging
Transcript: ENSMUST00000040111
AA Change: A548T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136116
Gene: ENSMUSG00000033209
AA Change: A548T

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: ENSMUST00000125470
Predicted Effect probably damaging
Transcript: ENSMUST00000156290
AA Change: A517T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137609
Gene: ENSMUSG00000033209
AA Change: A517T

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik G A 2: 151,314,481 (GRCm39) T399M probably benign Het
A830018L16Rik A T 1: 11,818,303 (GRCm39) N321I probably damaging Het
Aimp1 T C 3: 132,379,738 (GRCm39) T135A probably benign Het
Ascc3 T C 10: 50,576,589 (GRCm39) M848T probably damaging Het
Cry2 T C 2: 92,244,012 (GRCm39) D387G probably damaging Het
Daxx G A 17: 34,131,311 (GRCm39) D413N probably benign Het
Gbp6 A T 5: 105,422,228 (GRCm39) V492E probably benign Het
Itpr2 T A 6: 146,226,671 (GRCm39) M1358L probably benign Het
Med13l T A 5: 118,876,465 (GRCm39) D880E possibly damaging Het
Mmd2 A T 5: 142,561,094 (GRCm39) I47N probably damaging Het
Mroh2b G A 15: 4,943,668 (GRCm39) M401I probably benign Het
Nrip1 T C 16: 76,088,668 (GRCm39) K963R probably benign Het
Otop2 A G 11: 115,219,988 (GRCm39) H276R probably damaging Het
Pxn T A 5: 115,683,805 (GRCm39) D79E probably damaging Het
Rho G A 6: 115,909,146 (GRCm39) V61I probably damaging Het
Rtp1 A G 16: 23,250,154 (GRCm39) Y173C probably damaging Het
Slc6a17 T C 3: 107,400,493 (GRCm39) D212G possibly damaging Het
Stpg1 A G 4: 135,235,321 (GRCm39) E54G probably damaging Het
Tas2r119 A G 15: 32,177,853 (GRCm39) T140A probably benign Het
Traf3ip3 C T 1: 192,866,884 (GRCm39) C316Y probably damaging Het
Vmn1r30 T C 6: 58,412,655 (GRCm39) N59S probably benign Het
Vmn2r4 C T 3: 64,313,821 (GRCm39) V387M probably benign Het
Other mutations in Ttc28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Ttc28 APN 5 111,373,554 (GRCm39) missense probably damaging 1.00
IGL00963:Ttc28 APN 5 111,434,255 (GRCm39) nonsense probably null
IGL00969:Ttc28 APN 5 111,373,606 (GRCm39) missense probably benign 0.00
IGL01366:Ttc28 APN 5 111,233,037 (GRCm39) critical splice donor site probably null
IGL01528:Ttc28 APN 5 111,249,826 (GRCm39) splice site probably benign
IGL01558:Ttc28 APN 5 111,431,828 (GRCm39) missense probably damaging 0.99
IGL01973:Ttc28 APN 5 111,372,101 (GRCm39) missense possibly damaging 0.88
IGL02040:Ttc28 APN 5 111,040,802 (GRCm39) nonsense probably null
IGL02531:Ttc28 APN 5 111,373,716 (GRCm39) missense probably damaging 1.00
IGL02819:Ttc28 APN 5 111,414,449 (GRCm39) missense probably benign
IGL02830:Ttc28 APN 5 111,434,105 (GRCm39) missense probably benign 0.10
IGL02893:Ttc28 APN 5 111,433,251 (GRCm39) missense possibly damaging 0.87
IGL03387:Ttc28 APN 5 111,381,208 (GRCm39) missense probably benign 0.07
PIT4131001:Ttc28 UTSW 5 111,040,719 (GRCm39) missense probably benign 0.00
R0142:Ttc28 UTSW 5 111,425,323 (GRCm39) missense probably benign 0.40
R0166:Ttc28 UTSW 5 111,373,500 (GRCm39) missense probably benign 0.01
R0328:Ttc28 UTSW 5 111,431,933 (GRCm39) splice site probably benign
R0582:Ttc28 UTSW 5 111,331,162 (GRCm39) missense probably damaging 1.00
R0744:Ttc28 UTSW 5 111,378,947 (GRCm39) missense probably damaging 1.00
R0811:Ttc28 UTSW 5 111,383,366 (GRCm39) missense probably benign 0.24
R0812:Ttc28 UTSW 5 111,383,366 (GRCm39) missense probably benign 0.24
R0828:Ttc28 UTSW 5 111,371,312 (GRCm39) missense probably damaging 1.00
R0833:Ttc28 UTSW 5 111,378,947 (GRCm39) missense probably damaging 1.00
R1013:Ttc28 UTSW 5 111,424,831 (GRCm39) missense probably benign 0.01
R1168:Ttc28 UTSW 5 111,378,977 (GRCm39) missense probably damaging 1.00
R1194:Ttc28 UTSW 5 111,373,543 (GRCm39) missense probably damaging 1.00
R1195:Ttc28 UTSW 5 111,373,543 (GRCm39) missense probably damaging 1.00
R1195:Ttc28 UTSW 5 111,373,543 (GRCm39) missense probably damaging 1.00
R1195:Ttc28 UTSW 5 111,373,543 (GRCm39) missense probably damaging 1.00
R1196:Ttc28 UTSW 5 111,373,543 (GRCm39) missense probably damaging 1.00
R1205:Ttc28 UTSW 5 111,433,635 (GRCm39) missense probably benign 0.04
R1386:Ttc28 UTSW 5 111,373,543 (GRCm39) missense probably damaging 1.00
R1467:Ttc28 UTSW 5 111,433,254 (GRCm39) missense probably benign 0.00
R1467:Ttc28 UTSW 5 111,433,254 (GRCm39) missense probably benign 0.00
R1537:Ttc28 UTSW 5 111,433,184 (GRCm39) missense probably damaging 0.96
R1539:Ttc28 UTSW 5 111,248,677 (GRCm39) missense possibly damaging 0.77
R1558:Ttc28 UTSW 5 111,373,543 (GRCm39) missense probably damaging 1.00
R1560:Ttc28 UTSW 5 111,373,543 (GRCm39) missense probably damaging 1.00
R1561:Ttc28 UTSW 5 111,373,543 (GRCm39) missense probably damaging 1.00
R1566:Ttc28 UTSW 5 111,373,543 (GRCm39) missense probably damaging 1.00
R1768:Ttc28 UTSW 5 111,425,034 (GRCm39) missense possibly damaging 0.77
R1775:Ttc28 UTSW 5 111,424,677 (GRCm39) missense probably benign 0.00
R1909:Ttc28 UTSW 5 111,431,920 (GRCm39) critical splice donor site probably null
R1911:Ttc28 UTSW 5 111,428,616 (GRCm39) missense possibly damaging 0.93
R1970:Ttc28 UTSW 5 111,383,501 (GRCm39) missense probably benign 0.00
R1990:Ttc28 UTSW 5 111,424,188 (GRCm39) missense probably benign 0.37
R1992:Ttc28 UTSW 5 111,424,188 (GRCm39) missense probably benign 0.37
R2066:Ttc28 UTSW 5 111,373,799 (GRCm39) missense probably benign 0.01
R2112:Ttc28 UTSW 5 111,424,139 (GRCm39) missense probably damaging 0.99
R2158:Ttc28 UTSW 5 111,325,483 (GRCm39) intron probably benign
R2192:Ttc28 UTSW 5 111,371,362 (GRCm39) missense probably damaging 0.99
R2267:Ttc28 UTSW 5 111,373,869 (GRCm39) missense possibly damaging 0.75
R2384:Ttc28 UTSW 5 111,424,074 (GRCm39) missense possibly damaging 0.95
R2989:Ttc28 UTSW 5 111,371,881 (GRCm39) missense probably benign 0.29
R3881:Ttc28 UTSW 5 111,331,106 (GRCm39) missense probably damaging 1.00
R3919:Ttc28 UTSW 5 111,433,245 (GRCm39) missense possibly damaging 0.80
R4455:Ttc28 UTSW 5 111,371,924 (GRCm39) frame shift probably null
R4456:Ttc28 UTSW 5 111,371,924 (GRCm39) frame shift probably null
R4522:Ttc28 UTSW 5 111,428,038 (GRCm39) missense probably benign 0.01
R4548:Ttc28 UTSW 5 111,419,090 (GRCm39) missense possibly damaging 0.86
R4591:Ttc28 UTSW 5 111,371,147 (GRCm39) missense probably damaging 1.00
R4633:Ttc28 UTSW 5 111,371,867 (GRCm39) missense probably damaging 1.00
R4700:Ttc28 UTSW 5 111,424,909 (GRCm39) missense probably damaging 1.00
R4714:Ttc28 UTSW 5 111,433,095 (GRCm39) missense possibly damaging 0.65
R4790:Ttc28 UTSW 5 111,372,083 (GRCm39) missense possibly damaging 0.94
R4803:Ttc28 UTSW 5 111,425,329 (GRCm39) missense possibly damaging 0.90
R4840:Ttc28 UTSW 5 111,433,947 (GRCm39) missense probably damaging 1.00
R4969:Ttc28 UTSW 5 111,424,121 (GRCm39) missense probably damaging 0.96
R5019:Ttc28 UTSW 5 111,249,930 (GRCm39) missense possibly damaging 0.47
R5130:Ttc28 UTSW 5 111,040,722 (GRCm39) missense probably benign
R5150:Ttc28 UTSW 5 111,373,555 (GRCm39) missense probably damaging 1.00
R5214:Ttc28 UTSW 5 111,325,489 (GRCm39) intron probably benign
R5254:Ttc28 UTSW 5 111,419,104 (GRCm39) missense probably benign 0.01
R5518:Ttc28 UTSW 5 111,373,794 (GRCm39) missense probably benign 0.17
R5851:Ttc28 UTSW 5 111,383,335 (GRCm39) splice site probably benign
R5931:Ttc28 UTSW 5 111,232,975 (GRCm39) missense possibly damaging 0.81
R6011:Ttc28 UTSW 5 111,434,309 (GRCm39) missense probably benign
R6176:Ttc28 UTSW 5 111,371,851 (GRCm39) missense probably damaging 1.00
R6221:Ttc28 UTSW 5 111,419,114 (GRCm39) missense probably benign 0.00
R6398:Ttc28 UTSW 5 111,424,142 (GRCm39) missense probably damaging 1.00
R6717:Ttc28 UTSW 5 111,433,302 (GRCm39) missense probably benign
R6770:Ttc28 UTSW 5 111,434,006 (GRCm39) missense probably damaging 1.00
R6901:Ttc28 UTSW 5 111,424,891 (GRCm39) missense possibly damaging 0.88
R7038:Ttc28 UTSW 5 111,414,445 (GRCm39) missense probably benign 0.09
R7073:Ttc28 UTSW 5 111,371,282 (GRCm39) missense possibly damaging 0.96
R7101:Ttc28 UTSW 5 111,232,958 (GRCm39) missense probably damaging 1.00
R7135:Ttc28 UTSW 5 111,427,873 (GRCm39) missense probably damaging 1.00
R7350:Ttc28 UTSW 5 111,373,903 (GRCm39) missense probably damaging 0.97
R7454:Ttc28 UTSW 5 111,433,350 (GRCm39) missense probably benign 0.19
R7461:Ttc28 UTSW 5 111,371,995 (GRCm39) missense probably damaging 1.00
R7596:Ttc28 UTSW 5 111,427,990 (GRCm39) missense probably damaging 1.00
R7613:Ttc28 UTSW 5 111,371,995 (GRCm39) missense probably damaging 1.00
R7625:Ttc28 UTSW 5 111,433,085 (GRCm39) missense possibly damaging 0.65
R7648:Ttc28 UTSW 5 111,331,258 (GRCm39) missense possibly damaging 0.52
R7735:Ttc28 UTSW 5 111,414,544 (GRCm39) splice site probably null
R8030:Ttc28 UTSW 5 111,433,922 (GRCm39) missense possibly damaging 0.81
R8205:Ttc28 UTSW 5 111,373,596 (GRCm39) missense possibly damaging 0.95
R8246:Ttc28 UTSW 5 111,381,207 (GRCm39) missense probably benign 0.33
R8247:Ttc28 UTSW 5 111,381,207 (GRCm39) missense probably benign 0.33
R8269:Ttc28 UTSW 5 111,425,325 (GRCm39) missense probably benign 0.09
R8292:Ttc28 UTSW 5 111,371,123 (GRCm39) missense probably damaging 1.00
R8346:Ttc28 UTSW 5 111,381,207 (GRCm39) missense probably benign 0.33
R8356:Ttc28 UTSW 5 111,381,207 (GRCm39) missense probably benign 0.33
R8423:Ttc28 UTSW 5 111,381,207 (GRCm39) missense probably benign 0.33
R8424:Ttc28 UTSW 5 111,381,207 (GRCm39) missense probably benign 0.33
R8426:Ttc28 UTSW 5 111,381,207 (GRCm39) missense probably benign 0.33
R8441:Ttc28 UTSW 5 111,325,507 (GRCm39) nonsense probably null
R8494:Ttc28 UTSW 5 111,383,506 (GRCm39) missense probably damaging 0.96
R8508:Ttc28 UTSW 5 111,381,207 (GRCm39) missense probably benign 0.33
R8510:Ttc28 UTSW 5 111,381,207 (GRCm39) missense probably benign 0.33
R8729:Ttc28 UTSW 5 111,383,509 (GRCm39) critical splice donor site probably null
R8845:Ttc28 UTSW 5 111,372,041 (GRCm39) missense probably benign 0.11
R9003:Ttc28 UTSW 5 111,424,896 (GRCm39) missense probably benign 0.00
R9185:Ttc28 UTSW 5 111,371,342 (GRCm39) missense probably benign 0.03
R9187:Ttc28 UTSW 5 111,249,902 (GRCm39) missense probably damaging 1.00
R9245:Ttc28 UTSW 5 111,325,525 (GRCm39) missense unknown
R9251:Ttc28 UTSW 5 111,040,698 (GRCm39) missense possibly damaging 0.47
R9372:Ttc28 UTSW 5 111,331,073 (GRCm39) missense probably benign 0.25
R9466:Ttc28 UTSW 5 111,330,895 (GRCm39) missense probably damaging 0.99
R9563:Ttc28 UTSW 5 111,371,092 (GRCm39) missense probably benign 0.22
R9606:Ttc28 UTSW 5 111,433,140 (GRCm39) missense probably benign 0.00
R9691:Ttc28 UTSW 5 111,431,879 (GRCm39) missense probably benign 0.01
R9709:Ttc28 UTSW 5 111,433,637 (GRCm39) missense probably damaging 0.97
V8831:Ttc28 UTSW 5 111,248,578 (GRCm39) missense probably benign 0.11
Z1088:Ttc28 UTSW 5 111,434,181 (GRCm39) missense probably benign 0.00
Z1176:Ttc28 UTSW 5 111,414,432 (GRCm39) missense possibly damaging 0.59
Z1177:Ttc28 UTSW 5 111,433,605 (GRCm39) missense probably benign 0.10
Z1177:Ttc28 UTSW 5 111,426,452 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16