Incidental Mutation 'R8912:Ttc21a'
ID 678696
Institutional Source Beutler Lab
Gene Symbol Ttc21a
Ensembl Gene ENSMUSG00000032514
Gene Name tetratricopeptide repeat domain 21A
Synonyms Thm2, 4921538N17Rik
MMRRC Submission 068765-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # R8912 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 119766672-119796859 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 119770367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000035100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035099] [ENSMUST00000035100] [ENSMUST00000035100] [ENSMUST00000177637]
AlphaFold Q8C0S4
Predicted Effect probably benign
Transcript: ENSMUST00000035099
SMART Domains Protein: ENSMUSP00000035099
Gene: ENSMUSG00000032513

DomainStartEndE-ValueType
Pfam:GRASP55_65 2 99 2.6e-22 PFAM
Pfam:GRASP55_65 68 204 4e-60 PFAM
low complexity region 212 224 N/A INTRINSIC
low complexity region 329 361 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000035100
SMART Domains Protein: ENSMUSP00000035100
Gene: ENSMUSG00000032514

DomainStartEndE-ValueType
low complexity region 107 118 N/A INTRINSIC
Blast:TPR 214 247 6e-11 BLAST
TPR 326 359 4.55e1 SMART
TPR 494 527 1.97e1 SMART
Blast:TPR 528 561 1e-14 BLAST
TPR 565 598 2.63e1 SMART
Blast:TPR 617 649 6e-11 BLAST
TPR 721 754 1.33e0 SMART
TPR 755 788 4.84e-3 SMART
TPR 790 821 1.14e1 SMART
TPR 883 916 9.03e-3 SMART
low complexity region 921 935 N/A INTRINSIC
TPR 951 984 1.08e1 SMART
Blast:TPR 1022 1054 3e-12 BLAST
low complexity region 1117 1129 N/A INTRINSIC
TPR 1195 1228 2.22e-2 SMART
TPR 1264 1297 9.73e1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000035100
SMART Domains Protein: ENSMUSP00000035100
Gene: ENSMUSG00000032514

DomainStartEndE-ValueType
low complexity region 107 118 N/A INTRINSIC
Blast:TPR 214 247 6e-11 BLAST
TPR 326 359 4.55e1 SMART
TPR 494 527 1.97e1 SMART
Blast:TPR 528 561 1e-14 BLAST
TPR 565 598 2.63e1 SMART
Blast:TPR 617 649 6e-11 BLAST
TPR 721 754 1.33e0 SMART
TPR 755 788 4.84e-3 SMART
TPR 790 821 1.14e1 SMART
TPR 883 916 9.03e-3 SMART
low complexity region 921 935 N/A INTRINSIC
TPR 951 984 1.08e1 SMART
Blast:TPR 1022 1054 3e-12 BLAST
low complexity region 1117 1129 N/A INTRINSIC
TPR 1195 1228 2.22e-2 SMART
TPR 1264 1297 9.73e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177637
SMART Domains Protein: ENSMUSP00000136413
Gene: ENSMUSG00000052336

DomainStartEndE-ValueType
Pfam:7tm_1 49 294 3.5e-50 PFAM
Meta Mutation Damage Score 0.9491 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (68/69)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700069L16Rik C T 5: 113,861,767 (GRCm39) W34* probably null Het
Adck5 T C 15: 76,477,435 (GRCm39) S90P probably damaging Het
Adgra3 C A 5: 50,118,273 (GRCm39) A1092S possibly damaging Het
Arhgap33 A T 7: 30,232,467 (GRCm39) probably benign Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Atp6ap1l T A 13: 91,046,979 (GRCm39) probably null Het
Brd2 A T 17: 34,332,458 (GRCm39) probably benign Het
Cfap46 A T 7: 139,260,097 (GRCm39) probably benign Het
Ciao1 A G 2: 127,088,599 (GRCm39) V108A possibly damaging Het
Clba1 T C 12: 112,779,323 (GRCm39) V320A possibly damaging Het
Dnah3 T A 7: 119,689,869 (GRCm39) H22L probably benign Het
Dnajc6 A G 4: 101,468,513 (GRCm39) Y251C probably damaging Het
Dsg2 T A 18: 20,715,878 (GRCm39) N273K probably damaging Het
Egf A G 3: 129,531,164 (GRCm39) V137A possibly damaging Het
Ercc6 C T 14: 32,248,211 (GRCm39) P254L probably benign Het
Erh G T 12: 80,684,282 (GRCm39) A65E probably benign Het
Fbln2 A G 6: 91,240,420 (GRCm39) E789G possibly damaging Het
Fbxl13 T G 5: 21,727,184 (GRCm39) D571A probably damaging Het
Fbxw26 T A 9: 109,561,717 (GRCm39) E159V probably damaging Het
Fndc1 T C 17: 8,019,778 (GRCm39) I134V probably null Het
Fsip2 A G 2: 82,810,938 (GRCm39) D2419G probably benign Het
Gm3371 T C 14: 44,641,238 (GRCm39) K109E Het
Gm5414 A G 15: 101,536,620 (GRCm39) S2P possibly damaging Het
Igkv1-110 G T 6: 68,247,950 (GRCm39) D20Y probably damaging Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Ippk A G 13: 49,603,513 (GRCm39) D422G probably damaging Het
Irs2 A T 8: 11,056,655 (GRCm39) D592E probably damaging Het
Klra9 A G 6: 130,159,368 (GRCm39) I215T probably damaging Het
Lrrc8b T A 5: 105,629,424 (GRCm39) L590Q probably damaging Het
Myh10 A G 11: 68,680,929 (GRCm39) probably null Het
Neto1 A G 18: 86,479,173 (GRCm39) D159G probably damaging Het
Nr1d2 T C 14: 18,220,030 (GRCm38) K104E probably damaging Het
Nrcam T C 12: 44,645,366 (GRCm39) V1256A probably damaging Het
Nufip2 T C 11: 77,632,554 (GRCm39) V690A unknown Het
Or13e8 T A 4: 43,697,017 (GRCm39) D52V probably benign Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Or5h19 A G 16: 58,856,263 (GRCm39) V279A probably benign Het
Or9m1b C T 2: 87,836,661 (GRCm39) A145T possibly damaging Het
Patj A G 4: 98,385,565 (GRCm39) H444R Het
Pclo T C 5: 14,825,335 (GRCm39) L1356P Het
Pde4dip A G 3: 97,617,633 (GRCm39) S1732P probably damaging Het
Pi4ka A T 16: 17,207,230 (GRCm39) I25N Het
Pira13 A T 7: 3,825,818 (GRCm39) D350E unknown Het
Pou2f3 C A 9: 43,110,336 (GRCm39) V30L probably benign Het
Qrich2 GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG 11: 116,348,367 (GRCm39) probably benign Het
Reck T A 4: 43,938,802 (GRCm39) probably benign Het
Sdha A T 13: 74,475,323 (GRCm39) probably benign Het
Serinc1 A C 10: 57,400,075 (GRCm39) S191A probably benign Het
Sgo2a T C 1: 58,056,560 (GRCm39) S915P probably damaging Het
Sgsh T C 11: 119,243,486 (GRCm39) T79A probably damaging Het
Sik1 A G 17: 32,069,919 (GRCm39) V207A possibly damaging Het
Skap1 A T 11: 96,644,902 (GRCm39) I338F probably damaging Het
Skic3 T A 13: 76,305,361 (GRCm39) probably benign Het
Sowahc G T 10: 59,057,813 (GRCm39) probably benign Het
Spata31d1d T C 13: 59,875,136 (GRCm39) K800E possibly damaging Het
Spin1 T A 13: 51,298,433 (GRCm39) W151R probably damaging Het
Srfbp1 A G 18: 52,623,686 (GRCm39) T438A possibly damaging Het
Srrm2 A G 17: 24,038,575 (GRCm39) T1740A probably benign Het
Tacr1 A T 6: 82,534,014 (GRCm39) S347C probably damaging Het
Taf1b T C 12: 24,566,860 (GRCm39) S185P possibly damaging Het
Tanc2 C T 11: 105,758,153 (GRCm39) T638I probably benign Het
Tdrkh T C 3: 94,336,478 (GRCm39) Y472H probably damaging Het
Trav4-2 C G 14: 53,656,266 (GRCm39) Y89* probably null Het
Trpm1 G T 7: 63,918,628 (GRCm39) R1540L probably benign Het
Tti1 A G 2: 157,851,188 (GRCm39) V17A probably benign Het
Vamp8 A G 6: 72,365,276 (GRCm39) L44P probably benign Het
Vmn1r63 G T 7: 5,806,131 (GRCm39) S167Y probably damaging Het
Xrn2 T C 2: 146,891,913 (GRCm39) V710A probably benign Het
Zfp518a A C 19: 40,901,870 (GRCm39) K600Q possibly damaging Het
Zfyve28 T C 5: 34,374,655 (GRCm39) D453G probably benign Het
Other mutations in Ttc21a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00576:Ttc21a APN 9 119,794,885 (GRCm39) missense probably damaging 0.96
IGL01996:Ttc21a APN 9 119,787,182 (GRCm39) missense probably damaging 0.99
IGL02160:Ttc21a APN 9 119,785,989 (GRCm39) missense probably damaging 1.00
IGL02163:Ttc21a APN 9 119,779,901 (GRCm39) nonsense probably null
IGL02252:Ttc21a APN 9 119,785,994 (GRCm39) missense probably damaging 1.00
IGL02901:Ttc21a APN 9 119,787,347 (GRCm39) missense probably damaging 0.98
IGL03105:Ttc21a APN 9 119,771,642 (GRCm39) missense probably benign 0.01
IGL03155:Ttc21a APN 9 119,773,042 (GRCm39) critical splice donor site probably null
IGL03323:Ttc21a APN 9 119,769,602 (GRCm39) intron probably benign
R0054:Ttc21a UTSW 9 119,773,006 (GRCm39) missense probably damaging 1.00
R0398:Ttc21a UTSW 9 119,783,628 (GRCm39) missense probably damaging 1.00
R0452:Ttc21a UTSW 9 119,768,220 (GRCm39) intron probably benign
R0541:Ttc21a UTSW 9 119,785,892 (GRCm39) intron probably benign
R0545:Ttc21a UTSW 9 119,787,865 (GRCm39) missense probably damaging 0.99
R0605:Ttc21a UTSW 9 119,790,908 (GRCm39) missense possibly damaging 0.93
R1352:Ttc21a UTSW 9 119,783,718 (GRCm39) missense possibly damaging 0.49
R1417:Ttc21a UTSW 9 119,783,327 (GRCm39) missense probably damaging 0.99
R1471:Ttc21a UTSW 9 119,771,707 (GRCm39) missense probably damaging 1.00
R1479:Ttc21a UTSW 9 119,786,013 (GRCm39) missense probably benign 0.00
R1631:Ttc21a UTSW 9 119,783,228 (GRCm39) splice site probably null
R1905:Ttc21a UTSW 9 119,795,823 (GRCm39) missense possibly damaging 0.82
R2141:Ttc21a UTSW 9 119,793,361 (GRCm39) missense probably damaging 0.98
R2213:Ttc21a UTSW 9 119,769,527 (GRCm39) missense probably benign 0.01
R2265:Ttc21a UTSW 9 119,788,074 (GRCm39) missense possibly damaging 0.62
R2327:Ttc21a UTSW 9 119,795,189 (GRCm39) missense probably damaging 1.00
R2656:Ttc21a UTSW 9 119,770,331 (GRCm39) missense probably damaging 0.98
R3000:Ttc21a UTSW 9 119,781,320 (GRCm39) missense probably benign 0.02
R3792:Ttc21a UTSW 9 119,783,231 (GRCm39) missense probably damaging 1.00
R3938:Ttc21a UTSW 9 119,779,882 (GRCm39) intron probably benign
R4232:Ttc21a UTSW 9 119,771,684 (GRCm39) missense probably benign 0.00
R4492:Ttc21a UTSW 9 119,770,346 (GRCm39) missense probably benign 0.00
R4498:Ttc21a UTSW 9 119,787,885 (GRCm39) missense possibly damaging 0.82
R4655:Ttc21a UTSW 9 119,790,828 (GRCm39) missense possibly damaging 0.80
R4890:Ttc21a UTSW 9 119,788,103 (GRCm39) missense probably benign
R4960:Ttc21a UTSW 9 119,774,067 (GRCm39) missense possibly damaging 0.51
R4972:Ttc21a UTSW 9 119,774,027 (GRCm39) missense probably benign 0.00
R5015:Ttc21a UTSW 9 119,795,195 (GRCm39) missense probably damaging 0.98
R5092:Ttc21a UTSW 9 119,771,731 (GRCm39) missense probably benign 0.01
R5117:Ttc21a UTSW 9 119,795,631 (GRCm39) missense possibly damaging 0.64
R5123:Ttc21a UTSW 9 119,781,278 (GRCm39) missense probably benign 0.04
R5452:Ttc21a UTSW 9 119,780,037 (GRCm39) missense probably benign 0.00
R5733:Ttc21a UTSW 9 119,770,327 (GRCm39) missense probably benign
R5734:Ttc21a UTSW 9 119,795,732 (GRCm39) missense probably benign
R5869:Ttc21a UTSW 9 119,787,858 (GRCm39) missense probably benign 0.03
R6214:Ttc21a UTSW 9 119,795,838 (GRCm39) missense probably damaging 1.00
R6215:Ttc21a UTSW 9 119,795,838 (GRCm39) missense probably damaging 1.00
R6279:Ttc21a UTSW 9 119,790,905 (GRCm39) missense possibly damaging 0.78
R6284:Ttc21a UTSW 9 119,773,028 (GRCm39) missense probably damaging 1.00
R6300:Ttc21a UTSW 9 119,790,905 (GRCm39) missense possibly damaging 0.78
R6800:Ttc21a UTSW 9 119,770,268 (GRCm39) missense possibly damaging 0.61
R6833:Ttc21a UTSW 9 119,771,701 (GRCm39) missense probably benign 0.24
R7009:Ttc21a UTSW 9 119,787,139 (GRCm39) nonsense probably null
R7060:Ttc21a UTSW 9 119,795,742 (GRCm39) missense probably damaging 0.98
R7170:Ttc21a UTSW 9 119,774,607 (GRCm39) missense probably damaging 0.99
R7418:Ttc21a UTSW 9 119,788,117 (GRCm39) missense probably benign 0.01
R7438:Ttc21a UTSW 9 119,774,605 (GRCm39) missense probably damaging 1.00
R7595:Ttc21a UTSW 9 119,787,135 (GRCm39) missense probably benign 0.12
R7703:Ttc21a UTSW 9 119,788,095 (GRCm39) missense probably benign 0.14
R8076:Ttc21a UTSW 9 119,795,392 (GRCm39) missense probably benign 0.01
R8217:Ttc21a UTSW 9 119,783,694 (GRCm39) missense probably benign 0.00
R8471:Ttc21a UTSW 9 119,792,242 (GRCm39) splice site probably null
R8558:Ttc21a UTSW 9 119,787,835 (GRCm39) missense probably damaging 0.97
R8696:Ttc21a UTSW 9 119,772,977 (GRCm39) missense possibly damaging 0.80
R8739:Ttc21a UTSW 9 119,796,371 (GRCm39) missense probably benign 0.00
R8768:Ttc21a UTSW 9 119,770,286 (GRCm39) missense probably damaging 1.00
R9006:Ttc21a UTSW 9 119,792,130 (GRCm39) intron probably benign
R9214:Ttc21a UTSW 9 119,772,941 (GRCm39) missense probably benign 0.17
R9235:Ttc21a UTSW 9 119,774,559 (GRCm39) missense probably benign 0.03
R9521:Ttc21a UTSW 9 119,787,181 (GRCm39) missense probably damaging 0.98
R9643:Ttc21a UTSW 9 119,771,686 (GRCm39) missense probably benign
RF004:Ttc21a UTSW 9 119,795,838 (GRCm39) missense probably damaging 1.00
Z1177:Ttc21a UTSW 9 119,771,746 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGCATCAGAAGAGGACATCCG -3'
(R):5'- CATTTAGACCTGCCTGTGCC -3'

Sequencing Primer
(F):5'- TCCTCCTCGATGTAGACATAGAAG -3'
(R):5'- CTCACTGCCAGGCGTATG -3'
Posted On 2021-08-02