Incidental Mutation 'IGL01317:Ttc21b'
ID 73908
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ttc21b
Ensembl Gene ENSMUSG00000034848
Gene Name tetratricopeptide repeat domain 21B
Synonyms Thm1, line 158, aln, 2410066K11Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01317
Quality Score
Status
Chromosome 2
Chromosomal Location 66014671-66086961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 66018700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1236 (M1236L)
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: M1236L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099779
Gene: ENSMUSG00000034848
AA Change: M1236L

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: M1236L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000131758
Gene: ENSMUSG00000034848
AA Change: M1236L

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: ENSMUST00000128859
Coding Region Coverage
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 25,362,597 (GRCm39) D609E probably damaging Het
Aldh3b1 T C 19: 3,968,104 (GRCm39) I352V probably benign Het
Apeh A T 9: 107,963,406 (GRCm39) S605R probably benign Het
Arhgap32 A G 9: 32,168,260 (GRCm39) K748E probably benign Het
Avpr1a T C 10: 122,285,472 (GRCm39) S255P probably benign Het
Cadps2 T A 6: 23,314,172 (GRCm39) D1124V possibly damaging Het
Cask C T X: 13,388,499 (GRCm39) E83K probably damaging Het
Cep170b A G 12: 112,704,078 (GRCm39) Y670C probably damaging Het
Chd3 A G 11: 69,244,037 (GRCm39) Y1343H probably damaging Het
Cit T A 5: 116,046,775 (GRCm39) V396D probably benign Het
Cldn18 T C 9: 99,578,135 (GRCm39) T203A probably benign Het
Dido1 A C 2: 180,313,550 (GRCm39) N907K probably benign Het
Dmbt1 T A 7: 130,642,921 (GRCm39) D246E probably damaging Het
Dph1 T C 11: 75,071,486 (GRCm39) H303R probably benign Het
Dspp T A 5: 104,321,914 (GRCm39) Y8N probably damaging Het
Efhc2 C T X: 17,071,198 (GRCm39) probably benign Het
Fam171a1 T A 2: 3,203,663 (GRCm39) V215E probably damaging Het
Fhip1a T C 3: 85,580,153 (GRCm39) D684G probably benign Het
Foxm1 T A 6: 128,344,316 (GRCm39) M22K probably damaging Het
Gdpd4 A C 7: 97,647,465 (GRCm39) M371L possibly damaging Het
Hdac9 T C 12: 34,479,488 (GRCm39) probably benign Het
Heatr1 T A 13: 12,413,908 (GRCm39) W162R probably damaging Het
Hydin A T 8: 111,053,078 (GRCm39) D250V probably damaging Het
Itga4 T A 2: 79,153,005 (GRCm39) C897* probably null Het
Itprid1 G T 6: 55,944,790 (GRCm39) A504S possibly damaging Het
Kcnd2 T C 6: 21,727,339 (GRCm39) *631Q probably null Het
Kcnn2 A G 18: 45,693,694 (GRCm39) probably null Het
Lama1 A T 17: 68,125,696 (GRCm39) E2951V probably damaging Het
Lyst A G 13: 13,845,455 (GRCm39) Q1944R probably benign Het
Mmp14 A G 14: 54,673,247 (GRCm39) T52A possibly damaging Het
Mrgpra1 A T 7: 46,985,372 (GRCm39) N102K probably benign Het
Mrpl28 G A 17: 26,344,489 (GRCm39) G205D probably damaging Het
Mtmr4 T C 11: 87,493,230 (GRCm39) probably benign Het
Oog2 A G 4: 143,921,837 (GRCm39) N249S probably benign Het
Or4f57 T A 2: 111,790,620 (GRCm39) H266L possibly damaging Het
Ppp6r2 T A 15: 89,170,131 (GRCm39) V882E possibly damaging Het
Qser1 A C 2: 104,617,324 (GRCm39) Y1073D probably damaging Het
Rbl2 C A 8: 91,826,685 (GRCm39) D480E probably damaging Het
Rfx7 G A 9: 72,525,818 (GRCm39) G1003S probably damaging Het
Rrh A C 3: 129,616,074 (GRCm39) F20V possibly damaging Het
Rwdd3 A G 3: 120,965,282 (GRCm39) I15T possibly damaging Het
Sestd1 A T 2: 77,022,889 (GRCm39) M493K possibly damaging Het
Slc17a8 T A 10: 89,456,666 (GRCm39) L32F probably benign Het
Slc29a4 A G 5: 142,691,285 (GRCm39) D55G probably benign Het
Tbc1d10a A T 11: 4,162,826 (GRCm39) Y223F probably benign Het
Tbx20 A G 9: 24,681,051 (GRCm39) V147A probably damaging Het
Tmem63c A T 12: 87,118,770 (GRCm39) probably benign Het
Tmtc2 C A 10: 105,249,646 (GRCm39) R29L probably damaging Het
Unc119 T A 11: 78,238,052 (GRCm39) C12S probably damaging Het
Vcan A G 13: 89,839,787 (GRCm39) M1919T probably benign Het
Zmat4 C A 8: 24,392,185 (GRCm39) T47K probably benign 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
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
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
Posted On 2013-10-07