Incidental Mutation 'IGL02282:Ttc21b'
ID 289892
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 # IGL02282
Quality Score
Status
Chromosome 2
Chromosomal Location 66014671-66086961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66022081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 1168 (I1168T)
Ref Sequence ENSEMBL: ENSMUSP00000131758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102718] [ENSMUST00000125446]
AlphaFold Q0HA38
Predicted Effect probably damaging
Transcript: ENSMUST00000102718
AA Change: I1168T

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099779
Gene: ENSMUSG00000034848
AA Change: I1168T

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 damaging
Transcript: ENSMUST00000125446
AA Change: I1168T

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131758
Gene: ENSMUSG00000034848
AA Change: I1168T

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,983,351 (GRCm39) D1545G probably damaging Het
Baiap3 A C 17: 25,468,351 (GRCm39) D234E probably benign Het
Bltp2 C T 11: 78,175,054 (GRCm39) P1730S probably benign Het
Cand1 T A 10: 119,046,614 (GRCm39) T959S probably benign Het
Ctdspl2 A G 2: 121,807,959 (GRCm39) probably benign Het
Cyp2a4 A C 7: 26,008,472 (GRCm39) M205L probably benign Het
Dlx5 G A 6: 6,881,762 (GRCm39) A42V probably damaging Het
Dnah7a A G 1: 53,682,669 (GRCm39) I267T possibly damaging Het
Dnajb6 A G 5: 29,957,416 (GRCm39) D66G probably damaging Het
Fgf8 T C 19: 45,725,529 (GRCm39) H201R possibly damaging Het
Gpc1 A G 1: 92,785,689 (GRCm39) K460E probably damaging Het
Gzme A T 14: 56,355,826 (GRCm39) L162Q probably damaging Het
Ik G A 18: 36,878,697 (GRCm39) G17D probably damaging Het
Il4 G A 11: 53,509,001 (GRCm39) T59M probably damaging Het
Kcnh3 G T 15: 99,125,924 (GRCm39) probably null Het
Mill1 G T 7: 17,997,129 (GRCm39) probably null Het
Npbwr1 A T 1: 5,987,184 (GRCm39) M110K possibly damaging Het
Opalin A T 19: 41,054,943 (GRCm39) S84T probably benign Het
Or10w1 T A 19: 13,632,622 (GRCm39) D276E probably damaging Het
Or7g30 A G 9: 19,352,914 (GRCm39) Y235C probably benign Het
Or8b35 A T 9: 37,904,318 (GRCm39) I177F probably damaging Het
Pcdhb11 T C 18: 37,556,881 (GRCm39) L737P probably damaging Het
Phip G A 9: 82,795,743 (GRCm39) S626L probably benign Het
Ppl T C 16: 4,919,322 (GRCm39) D435G probably damaging Het
Prss37 A G 6: 40,492,317 (GRCm39) V178A possibly damaging Het
Ptpn7 A G 1: 135,062,572 (GRCm39) I104V probably damaging Het
Ptprn A G 1: 75,229,800 (GRCm39) Y700H probably damaging Het
Rab11fip5 T A 6: 85,314,534 (GRCm39) T555S probably damaging Het
Rfwd3 A T 8: 112,020,614 (GRCm39) probably benign Het
Robo1 G A 16: 72,539,026 (GRCm39) R41H probably damaging Het
Rps3 A G 7: 99,128,479 (GRCm39) probably null Het
Ruvbl2 G A 7: 45,074,589 (GRCm39) T183I probably benign Het
Sema4c A T 1: 36,589,284 (GRCm39) probably null Het
Shoc1 A C 4: 59,111,114 (GRCm39) Y53D unknown Het
Taar8b T A 10: 23,967,453 (GRCm39) K247I possibly damaging Het
Tacr3 A T 3: 134,566,834 (GRCm39) I236F probably benign Het
Ttc9b A T 7: 27,355,336 (GRCm39) D202V probably damaging Het
Vmn2r26 T G 6: 124,038,584 (GRCm39) C720G probably damaging Het
Vmn2r37 A G 7: 9,209,761 (GRCm39) S584P probably benign Het
Wnk2 T A 13: 49,221,601 (GRCm39) D1208V probably damaging Het
Zfp988 T A 4: 147,416,125 (GRCm39) C186* probably null Het
Zp3 A G 5: 136,013,205 (GRCm39) N179S possibly damaging 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
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 2015-04-16