Incidental Mutation 'R4969:Ttc28'
ID 384262
Institutional Source Beutler Lab
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 # R4969 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 111027669-111437646 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111424121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 1463 (K1463E)
Ref Sequence ENSEMBL: ENSMUSP00000136116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040111] [ENSMUST00000156290]
AlphaFold Q80XJ3
Predicted Effect probably damaging
Transcript: ENSMUST00000040111
AA Change: K1463E

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000136116
Gene: ENSMUSG00000033209
AA Change: K1463E

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: K1432E

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000137609
Gene: ENSMUSG00000033209
AA Change: K1432E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183861
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A G 7: 45,754,943 (GRCm39) I1525T probably benign Het
Agtpbp1 A G 13: 59,648,392 (GRCm39) V476A probably benign Het
Aipl1 A G 11: 71,922,256 (GRCm39) I151T probably benign Het
Apc C T 18: 34,445,971 (GRCm39) R938* probably null Het
Atp2a2 A G 5: 122,596,554 (GRCm39) F855S possibly damaging Het
Axdnd1 T C 1: 156,223,075 (GRCm39) T261A possibly damaging Het
Cbfa2t2 A G 2: 154,365,900 (GRCm39) D370G probably damaging Het
Cep350 T C 1: 155,736,025 (GRCm39) I2964V probably damaging Het
Clec16a T C 16: 10,386,375 (GRCm39) V158A probably damaging Het
Col6a5 G A 9: 105,741,806 (GRCm39) T2371I probably damaging Het
Cpne8 T C 15: 90,503,929 (GRCm39) T79A probably damaging Het
Cyp2b13 A G 7: 25,780,413 (GRCm39) R145G probably damaging Het
Disc1 G A 8: 125,851,289 (GRCm39) W391* probably null Het
Dnah8 G A 17: 30,941,988 (GRCm39) V1745I probably damaging Het
Dsp T C 13: 38,376,886 (GRCm39) V1557A probably benign Het
Egfem1 T A 3: 29,637,145 (GRCm39) Y194N probably damaging Het
Eif4a3 A G 11: 119,179,705 (GRCm39) Y361H probably damaging Het
Esd T A 14: 74,982,153 (GRCm39) S189R possibly damaging Het
Fancf A T 7: 51,511,196 (GRCm39) Y269* probably null Het
Fbln2 A T 6: 91,248,569 (GRCm39) H1078L possibly damaging Het
Fbxw13 A G 9: 109,010,592 (GRCm39) probably null Het
Fcgr2b A T 1: 170,790,941 (GRCm39) V284D probably benign Het
Fuz G A 7: 44,549,718 (GRCm39) G363R probably damaging Het
Gas7 A G 11: 67,574,234 (GRCm39) E403G probably damaging Het
Gnl1 A G 17: 36,291,581 (GRCm39) D49G possibly damaging Het
Gucy2g A G 19: 55,214,445 (GRCm39) V561A probably benign Het
H1f7 A T 15: 98,154,216 (GRCm39) V311E unknown Het
Hebp2 T C 10: 18,420,122 (GRCm39) T104A probably benign Het
Ighv1-19 T A 12: 114,672,377 (GRCm39) Q80L probably benign Het
Kctd19 T A 8: 106,122,959 (GRCm39) probably null Het
Kdm3b T C 18: 34,955,428 (GRCm39) L905P probably damaging Het
Klkb1 T C 8: 45,735,814 (GRCm39) D183G probably benign Het
Krt6b T C 15: 101,588,460 (GRCm39) R67G possibly damaging Het
Krt75 T C 15: 101,482,248 (GRCm39) I7V probably benign Het
Lpo A T 11: 87,697,751 (GRCm39) N685K probably benign Het
Mroh7 A T 4: 106,538,070 (GRCm39) I1202N probably benign Het
Muc4 T A 16: 32,754,572 (GRCm38) M1482K probably benign Het
Mylk T A 16: 34,791,810 (GRCm39) V1494E probably damaging Het
Neurl4 A G 11: 69,801,913 (GRCm39) D17G probably damaging Het
Nkx6-3 A G 8: 23,647,725 (GRCm39) Y228C probably damaging Het
Nprl2 G A 9: 107,420,273 (GRCm39) probably null Het
Nxf1 A G 19: 8,739,669 (GRCm39) probably null Het
Or4a39 A G 2: 89,236,770 (GRCm39) F218L probably benign Het
Or52u1 A T 7: 104,237,730 (GRCm39) N240Y probably damaging Het
Pde3b A G 7: 114,118,847 (GRCm39) E662G possibly damaging Het
Plekhm3 G A 1: 64,977,078 (GRCm39) R131C probably damaging Het
Plpp7 T C 2: 31,985,950 (GRCm39) S43P probably benign Het
Pramel5 A G 4: 143,998,187 (GRCm39) L352P probably damaging Het
Prepl T C 17: 85,395,902 (GRCm39) S27G probably benign Het
Ptprd A G 4: 76,051,542 (GRCm39) I227T probably damaging Het
Pttg1ip C T 10: 77,419,854 (GRCm39) Q6* probably null Het
Rgl1 C T 1: 152,424,813 (GRCm39) probably null Het
Riiad1 C A 3: 94,380,173 (GRCm39) G41* probably null Het
Rnf214 C T 9: 45,807,486 (GRCm39) R239H probably damaging Het
Rpap3 C T 15: 97,584,407 (GRCm39) V346I probably benign Het
Scaf4 G A 16: 90,048,831 (GRCm39) Q328* probably null Het
Sec23a A G 12: 59,051,274 (GRCm39) probably null Het
Slc5a8 T A 10: 88,740,774 (GRCm39) probably null Het
Slc9a8 A G 2: 167,288,449 (GRCm39) T183A probably benign Het
Sod3 A T 5: 52,525,736 (GRCm39) H145L probably damaging Het
Sp4 A G 12: 118,263,341 (GRCm39) V235A probably damaging Het
Spp1 A C 5: 104,588,153 (GRCm39) E185A possibly damaging Het
Susd1 A T 4: 59,351,679 (GRCm39) W461R probably benign Het
Svil A C 18: 5,095,516 (GRCm39) K1124Q probably damaging Het
Tdrd12 A T 7: 35,186,720 (GRCm39) probably null Het
Terb1 A T 8: 105,221,795 (GRCm39) N168K probably benign Het
Tnnt1 A G 7: 4,510,573 (GRCm39) L216P probably damaging Het
Twf2 T G 9: 106,089,098 (GRCm39) probably null Het
Urb1 C T 16: 90,602,299 (GRCm39) R90Q probably damaging Het
Wdr45b A T 11: 121,219,650 (GRCm39) C299* probably null Het
Wrap73 A G 4: 154,237,138 (GRCm39) S54G probably damaging Het
Zeb2 T C 2: 44,888,931 (GRCm39) K323R probably damaging Het
Zfp410 T C 12: 84,378,582 (GRCm39) I302T 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
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'- GTGCGGTACCTGTTAACACTTG -3'
(R):5'- TGAATTATGCCCTGGGTCTG -3'

Sequencing Primer
(F):5'- CCTGTTAACACTTGTACAGGGCAG -3'
(R):5'- TCTGGTTGCCAAGCCCAC -3'
Posted On 2016-04-27