Incidental Mutation 'R8346:Ttc28'
ID 645223
Institutional Source Beutler Lab
Gene Symbol Ttc28
Ensembl Gene ENSMUSG00000033209
Gene Name tetratricopeptide repeat domain 28
Synonyms TPRBK, 2310015L07Rik
MMRRC Submission 067802-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8346 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 111027669-111437646 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 111381207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 1240 (D1240N)
Ref Sequence ENSEMBL: ENSMUSP00000136116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040111] [ENSMUST00000156290]
AlphaFold Q80XJ3
Predicted Effect probably benign
Transcript: ENSMUST00000040111
AA Change: D1240N

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000136116
Gene: ENSMUSG00000033209
AA Change: D1240N

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 probably benign
Transcript: ENSMUST00000156290
AA Change: D1209N

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000137609
Gene: ENSMUSG00000033209
AA Change: D1209N

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 0.1323 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik A G 14: 59,380,221 (GRCm39) S26P probably damaging Het
Aco1 T A 4: 40,177,876 (GRCm39) M299K probably damaging Het
Acox1 G T 11: 116,069,099 (GRCm39) T382N possibly damaging Het
Angpt2 G A 8: 18,791,135 (GRCm39) R54* probably null Het
App G T 16: 84,900,145 (GRCm39) R102S unknown Het
Chd1l T C 3: 97,469,959 (GRCm39) N856D probably benign Het
Col11a1 A G 3: 114,005,818 (GRCm39) D1650G unknown Het
Cx3cl1 T C 8: 95,507,168 (GRCm39) V391A probably damaging Het
Cyp11b2 T C 15: 74,723,617 (GRCm39) Y378C probably damaging Het
Cyp26b1 T C 6: 84,554,150 (GRCm39) S156G probably benign Het
Cyp3a11 C T 5: 145,795,612 (GRCm39) M446I probably damaging Het
D7Ertd443e G A 7: 133,950,485 (GRCm39) T396I possibly damaging Het
Dusp4 C A 8: 35,275,092 (GRCm39) N70K possibly damaging Het
Dync1h1 G A 12: 110,632,226 (GRCm39) A4499T probably benign Het
Eno2 T C 6: 124,740,758 (GRCm39) D266G possibly damaging Het
Eomes T C 9: 118,314,036 (GRCm39) S694P probably benign Het
Fmo4 A G 1: 162,621,792 (GRCm39) V473A probably benign Het
Fmo5 T A 3: 97,552,962 (GRCm39) N303K probably damaging Het
Garin1b G A 6: 29,334,030 (GRCm39) C296Y probably damaging Het
Gdf10 A G 14: 33,653,802 (GRCm39) E103G probably benign Het
Gjb6 T C 14: 57,362,259 (GRCm39) M1V probably null Het
Gm17067 A G 7: 42,358,073 (GRCm39) L143P probably damaging Het
Helz A G 11: 107,563,399 (GRCm39) D1613G unknown Het
Hmgn3 T C 9: 82,993,159 (GRCm39) K50E probably damaging Het
Hoxc11 G A 15: 102,863,186 (GRCm39) G76S possibly damaging Het
Ighv1-9 A T 12: 114,547,448 (GRCm39) M31K probably benign Het
Ighv2-2 A T 12: 113,552,189 (GRCm39) C16* probably null Het
Kidins220 T G 12: 25,086,533 (GRCm39) F989C probably damaging Het
Krtap28-13 A G 1: 83,039,086 (GRCm39) K124E unknown Het
Mast4 A G 13: 102,887,986 (GRCm39) V1141A probably damaging Het
Myb A T 10: 21,002,136 (GRCm39) M735K probably benign Het
Myo3a T A 2: 22,448,434 (GRCm39) probably null Het
Naa60 G A 16: 3,718,507 (GRCm39) G113D probably damaging Het
Nfatc1 T C 18: 80,725,382 (GRCm39) I461V probably benign Het
Nphp4 C A 4: 152,645,778 (GRCm39) A1262D probably damaging Het
Obscn A T 11: 58,976,007 (GRCm39) V2040E possibly damaging Het
Or1j4 A G 2: 36,740,351 (GRCm39) I98V probably benign Het
Or9a2 A G 6: 41,749,057 (GRCm39) Y59H probably damaging Het
Ormdl1 T A 1: 53,344,626 (GRCm39) F63I possibly damaging Het
Otulinl A G 15: 27,664,644 (GRCm39) Y76H probably damaging Het
Phc1 C T 6: 122,302,774 (GRCm39) V250M probably damaging Het
Pik3c2b G A 1: 133,017,984 (GRCm39) V949M probably damaging Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Prmt8 T A 6: 127,688,810 (GRCm39) M187L probably damaging Het
Ptpn3 T C 4: 57,225,547 (GRCm39) I513V probably damaging Het
Rad17 A C 13: 100,781,681 (GRCm39) S39A possibly damaging Het
Rbck1 T C 2: 152,160,700 (GRCm39) Y412C probably damaging Het
Rfc3 C A 5: 151,569,100 (GRCm39) M152I probably damaging Het
Scn11a C A 9: 119,608,047 (GRCm39) C1028F probably damaging Het
Sfmbt2 C A 2: 10,466,236 (GRCm39) P357Q probably damaging Het
Slc22a6 C G 19: 8,599,169 (GRCm39) R267G probably damaging Het
St3gal1 G A 15: 66,985,511 (GRCm39) R48C probably damaging Het
Stmnd1 A G 13: 46,452,936 (GRCm39) N204S probably benign Het
Tdrd1 T C 19: 56,830,699 (GRCm39) V244A probably benign Het
Vmn2r25 T C 6: 123,802,350 (GRCm39) T518A probably benign Het
Xdh T C 17: 74,220,938 (GRCm39) D597G probably damaging Het
Zfp457 G A 13: 67,441,862 (GRCm39) Q238* probably null Het
Zfp647 T C 15: 76,795,928 (GRCm39) D244G probably damaging Het
Zfp870 T A 17: 33,102,843 (GRCm39) E162V 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
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
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'- AATTCTGCCAGCGCTGACAC -3'
(R):5'- TCATCTGACACATGTGGCG -3'

Sequencing Primer
(F):5'- TGACACAGAGGCCGTGG -3'
(R):5'- CACATGTGGCGCCGCTC -3'
Posted On 2020-09-02