Incidental Mutation 'R7595:Ttc21a'
ID 587678
Institutional Source Beutler Lab
Gene Symbol Ttc21a
Ensembl Gene ENSMUSG00000032514
Gene Name tetratricopeptide repeat domain 21A
Synonyms Thm2, 4921538N17Rik
MMRRC Submission 045640-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # R7595 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 119766672-119796859 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119787135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 714 (L714P)
Ref Sequence ENSEMBL: ENSMUSP00000035100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035100] [ENSMUST00000177637]
AlphaFold Q8C0S4
Predicted Effect probably benign
Transcript: ENSMUST00000035100
AA Change: L714P

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000035100
Gene: ENSMUSG00000032514
AA Change: L714P

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 0.2837 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930516K23Rik T C 7: 103,708,470 (GRCm39) E113G probably damaging Het
Adamts16 A G 13: 70,878,234 (GRCm39) F1177S probably damaging Het
Alox12 T A 11: 70,133,230 (GRCm39) E658V probably damaging Het
Anxa6 C A 11: 54,875,911 (GRCm39) V591L probably benign Het
Atp6ap1l A T 13: 91,039,135 (GRCm39) S141T probably damaging Het
Bcar1 A C 8: 112,447,625 (GRCm39) N117K probably benign Het
Cdh22 A G 2: 164,954,383 (GRCm39) S713P probably benign Het
Cideb T C 14: 55,992,261 (GRCm39) D144G probably damaging Het
Coch T A 12: 51,645,016 (GRCm39) V190D probably damaging Het
Cyp4a12a C A 4: 115,189,089 (GRCm39) L473M probably damaging Het
Dennd1c A C 17: 57,378,633 (GRCm39) L331R probably damaging Het
Dthd1 A G 5: 62,976,058 (GRCm39) D244G probably benign Het
Dytn T C 1: 63,698,161 (GRCm39) E282G probably damaging Het
Eml4 A G 17: 83,763,513 (GRCm39) Q576R probably benign Het
Fa2h T A 8: 112,082,122 (GRCm39) I175F probably benign Het
Fv1 A G 4: 147,954,627 (GRCm39) T398A possibly damaging Het
Ggh C G 4: 20,049,833 (GRCm39) S88C probably damaging Het
Gm5592 A G 7: 40,935,867 (GRCm39) D123G probably damaging Het
Golph3l A G 3: 95,517,094 (GRCm39) T201A probably benign Het
Ikbip A G 10: 90,932,447 (GRCm39) S364G probably benign Het
Kcnc3 G A 7: 44,240,893 (GRCm39) R195H probably damaging Het
Kdm5b T A 1: 134,536,704 (GRCm39) D641E probably benign Het
Kif26a C T 12: 112,145,759 (GRCm39) P1757S probably benign Het
Klf14 T C 6: 30,935,475 (GRCm39) K53R probably benign Het
Klk1b4 A G 7: 43,860,132 (GRCm39) D82G probably benign Het
Ly75 A G 2: 60,124,171 (GRCm39) F1702S probably benign Het
Mfsd4b1 A T 10: 39,879,221 (GRCm39) Y225* probably null Het
Or8g20 A C 9: 39,395,611 (GRCm39) F313V probably benign Het
Pcsk4 T A 10: 80,157,935 (GRCm39) D601V possibly damaging Het
Pkhd1l1 T A 15: 44,358,917 (GRCm39) D375E probably damaging Het
Primpol A G 8: 47,063,650 (GRCm39) L2S probably benign Het
Ralgapb G A 2: 158,268,085 (GRCm39) V63I possibly damaging Het
Rptor T A 11: 119,634,779 (GRCm39) N198K possibly damaging Het
Samd5 T C 10: 9,504,738 (GRCm39) N172S probably benign Het
Sorbs1 A T 19: 40,303,097 (GRCm39) H542Q probably damaging Het
Spopfm1 A G 3: 94,173,985 (GRCm39) E327G probably benign Het
Spopfm3 A G 3: 94,105,724 (GRCm39) D14G probably benign Het
Srgn T A 10: 62,343,785 (GRCm39) probably benign Het
Taar6 C T 10: 23,860,968 (GRCm39) V193I probably benign Het
Tmem132a G A 19: 10,835,569 (GRCm39) A987V probably damaging Het
Trank1 T C 9: 111,195,059 (GRCm39) Y1028H probably damaging Het
Wdfy4 C T 14: 32,696,111 (GRCm39) probably null Het
Zswim9 T C 7: 12,994,998 (GRCm39) D386G probably benign Het
Zwilch A G 9: 64,056,546 (GRCm39) 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
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
R8912:Ttc21a UTSW 9 119,770,367 (GRCm39) critical splice donor site probably null
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'- CTGTTCATGGAGAAGGGCTG -3'
(R):5'- GAGGGTTCTTTCTATAGGCCTC -3'

Sequencing Primer
(F):5'- CATGGAGAAGGGCTGGAGGG -3'
(R):5'- TCGTCATACACCTCCAGGG -3'
Posted On 2019-10-24