Incidental Mutation 'R6645:Ttc21b'
ID 526053
Institutional Source Beutler Lab
Gene Symbol Ttc21b
Ensembl Gene ENSMUSG00000034848
Gene Name tetratricopeptide repeat domain 21B
Synonyms Thm1, line 158, aln, 2410066K11Rik
MMRRC Submission 044766-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6645 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 66014671-66086961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66066721 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 311 (S311G)
Ref Sequence ENSEMBL: ENSMUSP00000131758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102718] [ENSMUST00000125446]
AlphaFold Q0HA38
Predicted Effect probably benign
Transcript: ENSMUST00000102718
AA Change: S311G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000099779
Gene: ENSMUSG00000034848
AA Change: S311G

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 benign
Transcript: ENSMUST00000125446
AA Change: S311G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000131758
Gene: ENSMUSG00000034848
AA Change: S311G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169968
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anp32e T A 3: 95,844,414 (GRCm39) F95I probably damaging Het
Arap1 A G 7: 101,057,318 (GRCm39) K628R possibly damaging Het
Arid4b A T 13: 14,294,737 (GRCm39) E6D probably damaging Het
Atxn10 G T 15: 85,260,904 (GRCm39) probably null Het
Ccdc170 A G 10: 4,510,974 (GRCm39) I678V possibly damaging Het
Ccdc18 T A 5: 108,286,796 (GRCm39) V110D probably benign Het
Cep85l C T 10: 53,177,768 (GRCm39) E322K probably benign Het
Cilp A T 9: 65,186,587 (GRCm39) Y894F possibly damaging Het
Ddx4 A G 13: 112,777,708 (GRCm39) S62P possibly damaging Het
Dph7 T C 2: 24,855,663 (GRCm39) V154A probably benign Het
Ephb6 T C 6: 41,594,206 (GRCm39) S579P probably benign Het
Fam53a G T 5: 33,758,128 (GRCm39) Q332K probably benign Het
Fancm A G 12: 65,152,874 (GRCm39) D1110G probably damaging Het
Fh1 A T 1: 175,442,442 (GRCm39) V136E possibly damaging Het
Greb1 G T 12: 16,748,580 (GRCm39) H1132Q probably benign Het
Jph1 A G 1: 17,161,985 (GRCm39) S226P probably damaging Het
Kbtbd8 C T 6: 95,103,730 (GRCm39) R460* probably null Het
Lama5 T A 2: 179,821,463 (GRCm39) N3059Y probably damaging Het
Lipc G A 9: 70,711,030 (GRCm39) T289I probably damaging Het
Lrrc2 T C 9: 110,799,175 (GRCm39) W241R probably damaging Het
Mfn2 T A 4: 147,979,069 (GRCm39) I88F probably damaging Het
Mms19 G C 19: 41,943,630 (GRCm39) N366K probably benign Het
Myo15a A G 11: 60,368,118 (GRCm39) T293A probably benign Het
Ndfip2 T A 14: 105,529,707 (GRCm39) Y179N probably damaging Het
Notch4 A G 17: 34,806,790 (GRCm39) D1909G probably benign Het
Obscn C T 11: 58,976,088 (GRCm39) S2013N probably damaging Het
Oca2 G T 7: 55,964,522 (GRCm39) A357S probably benign Het
Or8b43 T C 9: 38,360,219 (GRCm39) L17S probably damaging Het
Or8g35 T A 9: 39,381,562 (GRCm39) L153F probably benign Het
Pde7b C A 10: 20,486,312 (GRCm39) probably null Het
Ppef2 T C 5: 92,378,320 (GRCm39) N625S probably benign Het
Prom1 A T 5: 44,204,856 (GRCm39) L192Q probably damaging Het
Satb2 T C 1: 56,836,166 (GRCm39) I542V possibly damaging Het
Sgpp2 C T 1: 78,336,799 (GRCm39) T59M probably damaging Het
Skint6 T C 4: 112,749,235 (GRCm39) T782A possibly damaging Het
Slc13a4 G T 6: 35,245,774 (GRCm39) Q624K probably benign Het
Slc9a3 T A 13: 74,312,291 (GRCm39) H629Q probably damaging Het
Slitrk3 G T 3: 72,957,194 (GRCm39) A526E probably benign Het
Spata31e2 T A 1: 26,722,198 (GRCm39) D994V probably benign Het
Sptssa T C 12: 54,693,275 (GRCm39) Y53C probably damaging Het
Srsf10 T C 4: 135,590,874 (GRCm39) S159P possibly damaging Het
Tbce T C 13: 14,179,814 (GRCm39) T341A probably benign Het
Tdrd6 A G 17: 43,935,423 (GRCm39) L1875P probably benign Het
Tkt G A 14: 30,292,168 (GRCm39) G425R probably damaging Het
Tmprss7 T C 16: 45,511,326 (GRCm39) I17M possibly damaging Het
Ubr5 A G 15: 38,029,750 (GRCm39) Y492H probably damaging Het
Ush2a T C 1: 188,255,528 (GRCm39) I1535T probably damaging Het
Vmn2r17 A T 5: 109,576,247 (GRCm39) N373Y probably damaging Het
Vmn2r6 A T 3: 64,464,297 (GRCm39) V179E probably damaging Het
Vps13b A G 15: 35,910,451 (GRCm39) E3405G probably benign Het
Wac A T 18: 7,973,523 (GRCm39) Q212H probably damaging Het
Washc4 C T 10: 83,408,059 (GRCm39) R555* probably null Het
Zmat4 G A 8: 24,287,417 (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
R3810:Ttc21b UTSW 2 66,082,577 (GRCm39) critical splice acceptor site probably null
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
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'- CCATTCTCTGCTTGAGTGGG -3'
(R):5'- CCAGATGATAGAATGAATGCCTTTCC -3'

Sequencing Primer
(F):5'- CACCCAGGGAGGAAGTGTC -3'
(R):5'- AGAATGAATGCCTTTCCTTCTTAAG -3'
Posted On 2018-06-22