Incidental Mutation 'R3810:Ttc21b'
ID 275143
Institutional Source Beutler Lab
Gene Symbol Ttc21b
Ensembl Gene ENSMUSG00000034848
Gene Name tetratricopeptide repeat domain 21B
Synonyms Thm1, line 158, aln, 2410066K11Rik
MMRRC Submission 040880-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3810 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 66014671-66086961 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) C to T at 66082577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102718] [ENSMUST00000125446]
AlphaFold Q0HA38
Predicted Effect probably null
Transcript: ENSMUST00000102718
SMART Domains Protein: ENSMUSP00000099779
Gene: ENSMUSG00000034848

DomainStartEndE-ValueType
Blast:TPR 109 141 5e-12 BLAST
Blast:TPR 178 211 3e-12 BLAST
TPR 324 357 4.21e1 SMART
low complexity region 379 390 N/A INTRINSIC
TPR 492 525 8.51e0 SMART
TPR 526 559 5.92e1 SMART
TPR 563 596 7.69e1 SMART
TPR 721 754 3.07e-5 SMART
TPR 755 788 9.45e0 SMART
TPR 790 821 9.24e1 SMART
TPR 830 863 3.05e0 SMART
TPR 883 916 1.55e-1 SMART
TPR 917 950 8.74e0 SMART
TPR 951 984 6.75e1 SMART
Blast:TPR 1023 1054 5e-13 BLAST
Blast:TPR 1156 1189 1e-12 BLAST
TPR 1196 1229 9.7e0 SMART
TPR 1265 1298 1.02e1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000125446
SMART Domains Protein: ENSMUSP00000131758
Gene: ENSMUSG00000034848

DomainStartEndE-ValueType
Blast:TPR 108 141 3e-12 BLAST
Blast:TPR 178 211 3e-12 BLAST
TPR 324 357 4.21e1 SMART
low complexity region 379 390 N/A INTRINSIC
TPR 492 525 8.51e0 SMART
TPR 526 559 5.92e1 SMART
TPR 563 596 7.69e1 SMART
TPR 721 754 3.07e-5 SMART
TPR 755 788 9.45e0 SMART
TPR 790 821 9.24e1 SMART
TPR 830 863 3.05e0 SMART
TPR 883 916 1.55e-1 SMART
TPR 917 950 8.74e0 SMART
TPR 951 984 6.75e1 SMART
Blast:TPR 1023 1054 4e-13 BLAST
Blast:TPR 1156 1189 9e-13 BLAST
TPR 1196 1229 9.7e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131503
Meta Mutation Damage Score 0.9479 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 100% (40/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous mutation of this gene is embryonic lethal. Mutant embryos exhibit several deformities including polydactyly, microphthalmia, irregular shape of the long bones, rib fusion and truncation, neural tube defects, and abnormal brain structure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd6 T A 14: 8,045,603 (GRCm38) V173D probably benign Het
Agbl3 G T 6: 34,776,664 (GRCm39) S385I probably damaging Het
Ahcyl2 A G 6: 29,891,260 (GRCm39) I455V probably benign Het
Bpifb2 T A 2: 153,733,871 (GRCm39) D404E probably benign Het
Ctbp1 A G 5: 33,424,389 (GRCm39) probably benign Het
D130040H23Rik T A 8: 69,755,022 (GRCm39) C160S probably damaging Het
Dapk1 T C 13: 60,908,503 (GRCm39) W1039R probably damaging Het
Dock6 T C 9: 21,712,873 (GRCm39) K1995E probably damaging Het
Entpd3 A G 9: 120,391,068 (GRCm39) E440G probably benign Het
Gm20939 G A 17: 95,184,138 (GRCm39) R262K possibly damaging Het
Gm9637 A T 14: 19,402,398 (GRCm38) noncoding transcript Het
Gm9847 T C 12: 14,545,148 (GRCm39) noncoding transcript Het
H2-Q6 A G 17: 35,644,757 (GRCm39) E182G probably damaging Het
Has1 T C 17: 18,067,822 (GRCm39) Y356C probably damaging Het
Hivep2 A G 10: 14,006,101 (GRCm39) T900A probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Klhl35 A G 7: 99,119,448 (GRCm39) D311G probably benign Het
Metap2 A T 10: 93,706,026 (GRCm39) L252* probably null Het
Mrgpra9 T A 7: 46,885,527 (GRCm39) I47F probably damaging Het
Muc5b T C 7: 141,417,863 (GRCm39) L3603P possibly damaging Het
Neurl4 A G 11: 69,794,859 (GRCm39) H323R probably damaging Het
Oas1d A T 5: 121,053,049 (GRCm39) I35F probably damaging Het
Or4c124 G A 2: 89,156,098 (GRCm39) T142M probably benign Het
Or4c12b T A 2: 89,647,395 (GRCm39) S242T probably damaging Het
Or5w18 C T 2: 87,633,396 (GRCm39) S221F possibly damaging Het
Or5w19 T A 2: 87,698,745 (GRCm39) S137T probably damaging Het
Orc6 T A 8: 86,026,613 (GRCm39) S19R probably benign Het
Pcdh12 T C 18: 38,414,290 (GRCm39) E945G probably damaging Het
Plekha6 A G 1: 133,201,717 (GRCm39) M377V probably benign Het
Psmd1 T A 1: 86,060,437 (GRCm39) V828D probably damaging Het
Rbbp5 T C 1: 132,420,325 (GRCm39) V59A probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Tas2r130 A G 6: 131,607,792 (GRCm39) M1T probably null Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trgv2 T C 13: 19,521,011 (GRCm39) T28A possibly damaging Het
Trpc4ap T A 2: 155,485,355 (GRCm39) I448F probably damaging Het
Txndc5 T C 13: 38,707,381 (GRCm39) K99E probably benign Het
Uvrag A G 7: 98,628,919 (GRCm39) Y383H probably damaging Het
Vim T C 2: 13,583,563 (GRCm39) probably null Het
Other mutations in Ttc21b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Ttc21b APN 2 66,073,119 (GRCm39) missense probably benign 0.00
IGL00467:Ttc21b APN 2 66,018,708 (GRCm39) missense probably damaging 1.00
IGL00721:Ttc21b APN 2 66,057,122 (GRCm39) missense probably benign 0.06
IGL00837:Ttc21b APN 2 66,065,915 (GRCm39) critical splice donor site probably null
IGL01317:Ttc21b APN 2 66,018,700 (GRCm39) missense probably benign 0.00
IGL01485:Ttc21b APN 2 66,082,234 (GRCm39) splice site probably benign
IGL01739:Ttc21b APN 2 66,068,200 (GRCm39) missense probably benign
IGL02282:Ttc21b APN 2 66,022,081 (GRCm39) missense probably damaging 0.96
IGL02431:Ttc21b APN 2 66,082,229 (GRCm39) splice site probably benign
IGL02478:Ttc21b APN 2 66,018,624 (GRCm39) missense probably benign 0.05
IGL02487:Ttc21b APN 2 66,065,500 (GRCm39) missense probably benign 0.02
IGL03327:Ttc21b APN 2 66,068,192 (GRCm39) missense possibly damaging 0.92
IGL03346:Ttc21b APN 2 66,068,192 (GRCm39) missense possibly damaging 0.92
plus-sized UTSW 2 66,073,023 (GRCm39) missense probably damaging 1.00
puffer UTSW 2 66,057,244 (GRCm39) missense probably benign 0.12
PIT4696001:Ttc21b UTSW 2 66,061,563 (GRCm39) splice site probably null
R0049:Ttc21b UTSW 2 66,053,908 (GRCm39) missense probably damaging 1.00
R0049:Ttc21b UTSW 2 66,053,908 (GRCm39) missense probably damaging 1.00
R0373:Ttc21b UTSW 2 66,018,670 (GRCm39) missense probably damaging 0.99
R0440:Ttc21b UTSW 2 66,066,726 (GRCm39) missense probably benign 0.03
R0504:Ttc21b UTSW 2 66,053,142 (GRCm39) splice site probably benign
R0600:Ttc21b UTSW 2 66,069,914 (GRCm39) missense probably damaging 0.99
R0621:Ttc21b UTSW 2 66,056,355 (GRCm39) missense probably benign 0.07
R0633:Ttc21b UTSW 2 66,066,577 (GRCm39) missense probably benign
R0863:Ttc21b UTSW 2 66,073,117 (GRCm39) missense probably benign
R1617:Ttc21b UTSW 2 66,056,379 (GRCm39) missense probably benign 0.22
R1837:Ttc21b UTSW 2 66,028,106 (GRCm39) missense probably benign 0.01
R1844:Ttc21b UTSW 2 66,053,921 (GRCm39) nonsense probably null
R2120:Ttc21b UTSW 2 66,057,098 (GRCm39) missense probably benign 0.12
R2205:Ttc21b UTSW 2 66,065,467 (GRCm39) missense possibly damaging 0.51
R2392:Ttc21b UTSW 2 66,037,794 (GRCm39) critical splice donor site probably null
R3689:Ttc21b UTSW 2 66,054,488 (GRCm39) missense probably benign 0.22
R3847:Ttc21b UTSW 2 66,073,023 (GRCm39) missense probably damaging 1.00
R3897:Ttc21b UTSW 2 66,065,413 (GRCm39) missense probably benign 0.01
R4561:Ttc21b UTSW 2 66,016,562 (GRCm39) missense probably damaging 1.00
R4671:Ttc21b UTSW 2 66,057,257 (GRCm39) missense possibly damaging 0.66
R5161:Ttc21b UTSW 2 66,059,367 (GRCm39) missense probably damaging 0.98
R5274:Ttc21b UTSW 2 66,066,627 (GRCm39) missense possibly damaging 0.89
R5594:Ttc21b UTSW 2 66,066,579 (GRCm39) missense probably benign 0.39
R6210:Ttc21b UTSW 2 66,066,698 (GRCm39) missense probably benign 0.00
R6305:Ttc21b UTSW 2 66,018,614 (GRCm39) missense probably damaging 0.99
R6456:Ttc21b UTSW 2 66,018,675 (GRCm39) missense probably damaging 0.97
R6482:Ttc21b UTSW 2 66,057,244 (GRCm39) missense probably benign 0.12
R6645:Ttc21b UTSW 2 66,066,721 (GRCm39) missense probably benign 0.01
R6800:Ttc21b UTSW 2 66,038,994 (GRCm39) splice site probably null
R6815:Ttc21b UTSW 2 66,057,134 (GRCm39) missense probably benign 0.00
R6959:Ttc21b UTSW 2 66,061,656 (GRCm39) missense probably benign 0.05
R7125:Ttc21b UTSW 2 66,066,670 (GRCm39) missense probably benign 0.00
R7265:Ttc21b UTSW 2 66,040,517 (GRCm39) missense possibly damaging 0.89
R7283:Ttc21b UTSW 2 66,039,062 (GRCm39) missense probably damaging 0.96
R7560:Ttc21b UTSW 2 66,047,548 (GRCm39) missense possibly damaging 0.69
R7561:Ttc21b UTSW 2 66,047,548 (GRCm39) missense possibly damaging 0.69
R7816:Ttc21b UTSW 2 66,077,705 (GRCm39) missense possibly damaging 0.82
R8172:Ttc21b UTSW 2 66,082,500 (GRCm39) missense probably benign 0.01
R8179:Ttc21b UTSW 2 66,031,824 (GRCm39) missense probably benign
R9047:Ttc21b UTSW 2 66,031,596 (GRCm39) missense
R9282:Ttc21b UTSW 2 66,056,349 (GRCm39) missense possibly damaging 0.65
R9336:Ttc21b UTSW 2 66,057,287 (GRCm39) missense probably benign
R9464:Ttc21b UTSW 2 66,053,866 (GRCm39) missense probably damaging 1.00
X0013:Ttc21b UTSW 2 66,056,294 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCTGGAAATCAAGATTGGGGTTTG -3'
(R):5'- CCTGAGAAAGCAAAGCACTG -3'

Sequencing Primer
(F):5'- CTTAGTCCAAAGCAAGGATTCAG -3'
(R):5'- AGCAAAGCACTGATTTGTCAG -3'
Posted On 2015-04-02