Incidental Mutation 'R1566:Ttc28'
ID 175257
Institutional Source Beutler Lab
Gene Symbol Ttc28
Ensembl Gene ENSMUSG00000033209
Gene Name tetratricopeptide repeat domain 28
Synonyms TPRBK, 2310015L07Rik
MMRRC Submission 039605-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1566 (G1)
Quality Score 113
Status Not validated
Chromosome 5
Chromosomal Location 111027669-111437646 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 111373543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 962 (S962N)
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: S993N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136116
Gene: ENSMUSG00000033209
AA Change: S993N

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: S962N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137609
Gene: ENSMUSG00000033209
AA Change: S962N

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
Meta Mutation Damage Score 0.0827 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T A 11: 109,679,632 (GRCm39) I247F probably benign Het
Afap1l1 T C 18: 61,888,714 (GRCm39) N119S probably benign Het
Ap2a1 T C 7: 44,552,904 (GRCm39) D721G probably benign Het
Ap3m2 C T 8: 23,293,967 (GRCm39) V28M probably damaging Het
Arhgef7 A G 8: 11,832,620 (GRCm39) T32A possibly damaging Het
Avl9 C T 6: 56,713,467 (GRCm39) R242* probably null Het
Bsn G A 9: 108,003,184 (GRCm39) T407I probably benign Het
Capn3 A T 2: 120,333,474 (GRCm39) R627S possibly damaging Het
Car13 G A 3: 14,715,758 (GRCm39) R92Q probably benign Het
Clcn1 T C 6: 42,268,374 (GRCm39) I149T possibly damaging Het
Col1a2 G T 6: 4,523,613 (GRCm39) G514V probably damaging Het
Ctsw C A 19: 5,515,445 (GRCm39) C347F probably damaging Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Eif1ad8 A T 12: 87,564,001 (GRCm39) H112L probably benign Het
Eml1 T A 12: 108,438,151 (GRCm39) V97D probably damaging Het
Epb41l1 A G 2: 156,363,879 (GRCm39) E796G probably benign Het
Gdnf A G 15: 7,863,895 (GRCm39) K102R probably benign Het
Gm1110 T C 9: 26,792,166 (GRCm39) E618G probably damaging Het
Gmnc T C 16: 26,782,689 (GRCm39) D22G probably damaging Het
Greb1 T C 12: 16,761,829 (GRCm39) D517G possibly damaging Het
Gsta1 A T 9: 78,149,741 (GRCm39) K185* probably null Het
Ift88 A G 14: 57,678,468 (GRCm39) D160G probably benign Het
Intu T A 3: 40,647,008 (GRCm39) I627N probably damaging Het
Itgav T A 2: 83,566,974 (GRCm39) F101L probably damaging Het
Kars1 C T 8: 112,724,290 (GRCm39) V475I probably benign Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Klra7 A G 6: 130,208,564 (GRCm39) V6A probably damaging Het
Krtap6-2 A G 16: 89,216,626 (GRCm39) S114P unknown Het
Ldlrad4 T C 18: 68,383,669 (GRCm39) S122P probably benign Het
Lig4 C A 8: 10,023,650 (GRCm39) L43F probably benign Het
Mfsd4a T C 1: 131,986,917 (GRCm39) D137G probably damaging Het
Mmel1 C T 4: 154,968,110 (GRCm39) R149C probably damaging Het
Morc2b T A 17: 33,355,948 (GRCm39) H608L probably benign Het
Mrgpra6 G A 7: 46,838,652 (GRCm39) T182I probably benign Het
Nat8l C A 5: 34,158,200 (GRCm39) N203K probably benign Het
Nin A T 12: 70,101,253 (GRCm39) V448E probably damaging Het
Or10a4 T G 7: 106,696,759 (GRCm39) F29C probably damaging Het
Or2m12 T A 16: 19,105,077 (GRCm39) M139L possibly damaging Het
Or5k15 T A 16: 58,709,903 (GRCm39) I227F probably damaging Het
Or8k21 G A 2: 86,145,129 (GRCm39) T167I probably benign Het
Pank4 T C 4: 155,064,978 (GRCm39) L759P probably damaging Het
Pcm1 T A 8: 41,743,810 (GRCm39) N1152K probably damaging Het
Pitpnm3 A T 11: 71,949,785 (GRCm39) probably null Het
Plekhg3 T C 12: 76,618,839 (GRCm39) M497T possibly damaging Het
Ppfia3 T C 7: 44,990,112 (GRCm39) D1138G probably damaging Het
Prl6a1 T A 13: 27,499,410 (GRCm39) S59R possibly damaging Het
Pth2r A G 1: 65,427,697 (GRCm39) S457G possibly damaging Het
Rbm25 T A 12: 83,721,828 (GRCm39) N671K probably damaging Het
Rbm26 T A 14: 105,397,980 (GRCm39) K47N unknown Het
Ryr1 T A 7: 28,791,600 (GRCm39) I1435F possibly damaging Het
Scin T A 12: 40,131,673 (GRCm39) H287L probably benign Het
Serpinb9e T C 13: 33,437,477 (GRCm39) L120P probably damaging Het
Slc34a1 A C 13: 55,559,844 (GRCm39) probably null Het
Slc39a10 A G 1: 46,875,245 (GRCm39) F19S possibly damaging Het
Sos1 A G 17: 80,761,345 (GRCm39) V117A probably damaging Het
Spta1 C A 1: 174,012,272 (GRCm39) N359K probably benign Het
Sspo G A 6: 48,443,804 (GRCm39) probably null Het
Stx5a T A 19: 8,719,675 (GRCm39) D13E probably damaging Het
Supt16 G A 14: 52,414,112 (GRCm39) A489V probably damaging Het
Tap1 T A 17: 34,408,520 (GRCm39) L253Q probably benign Het
Tmc6 A G 11: 117,660,262 (GRCm39) S659P probably damaging Het
Tnfsf14 T C 17: 57,500,876 (GRCm39) D65G probably benign Het
Ugt8a T C 3: 125,669,207 (GRCm39) Y299C probably damaging Het
Upk1a A G 7: 30,309,145 (GRCm39) V59A possibly damaging Het
Usp38 T C 8: 81,711,432 (GRCm39) T868A probably benign Het
Wdsub1 G A 2: 59,707,059 (GRCm39) H58Y probably damaging Het
Zc3h7b T C 15: 81,653,035 (GRCm39) S19P possibly damaging Het
Zfp385b A C 2: 77,246,257 (GRCm39) F257V probably benign Het
Zmym4 A C 4: 126,804,940 (GRCm39) I188S possibly damaging 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
IGL02432:Ttc28 APN 5 111,371,101 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GCACCTGCACAGAGTGATCTCATTG -3'
(R):5'- TGATAGACCACAGCCCTCTCGAAG -3'

Sequencing Primer
(F):5'- AGAGTGATCTCATTGCTTCTCTG -3'
(R):5'- ACTCGTAGGTGAGTCCCAG -3'
Posted On 2014-04-24