Incidental Mutation 'R6482:Ttc21b'
ID 517149
Institutional Source Beutler Lab
Gene Symbol Ttc21b
Ensembl Gene ENSMUSG00000034848
Gene Name tetratricopeptide repeat domain 21B
Synonyms Thm1, line 158, aln, 2410066K11Rik
MMRRC Submission 044614-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6482 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 66014671-66086961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66057244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 576 (M576T)
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: M576T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000099779
Gene: ENSMUSG00000034848
AA Change: M576T

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: M576T

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000131758
Gene: ENSMUSG00000034848
AA Change: M576T

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
Meta Mutation Damage Score 0.0849 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.6%
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
Acadvl T C 11: 69,902,388 (GRCm39) I415V probably benign Het
Akap8l A G 17: 32,564,370 (GRCm39) F6L possibly damaging Het
Ano3 T A 2: 110,527,400 (GRCm39) N603Y probably damaging Het
Casp8ap2 T C 4: 32,634,813 (GRCm39) S116P probably damaging Het
Ccdc110 A T 8: 46,395,825 (GRCm39) Q572L probably benign Het
Chit1 T C 1: 134,070,980 (GRCm39) S20P probably damaging Het
Col22a1 G A 15: 71,762,338 (GRCm39) P107L possibly damaging Het
Dpys T C 15: 39,705,369 (GRCm39) H248R probably damaging Het
Dsg2 A T 18: 20,734,371 (GRCm39) K783I possibly damaging Het
Efnb2 A T 8: 8,670,637 (GRCm39) V321E probably damaging Het
Eif1ad13 A G 12: 87,762,565 (GRCm39) Y95C probably damaging Het
Fbxo11 A T 17: 88,320,086 (GRCm39) Y209N probably benign Het
Gm35315 A T 5: 110,225,955 (GRCm39) C495S possibly damaging Het
Hrh1 A G 6: 114,457,724 (GRCm39) Q335R possibly damaging Het
Il12rb2 A G 6: 67,333,670 (GRCm39) L203P probably damaging Het
Itgav T C 2: 83,624,614 (GRCm39) S735P probably damaging Het
Klrg1 G T 6: 122,248,412 (GRCm39) C162* probably null Het
Mcc T C 18: 44,578,931 (GRCm39) S651G possibly damaging Het
Nkx2-2 T A 2: 147,027,896 (GRCm39) I15F probably damaging Het
Nppa G A 4: 148,085,328 (GRCm39) V13I probably benign Het
Obi1 A T 14: 104,717,253 (GRCm39) C373* probably null Het
Or8i2 G C 2: 86,852,869 (GRCm39) F6L probably benign Het
Pde2a A G 7: 101,150,244 (GRCm39) N228D probably benign Het
Pgpep1l C T 7: 67,888,815 (GRCm39) probably null Het
Plekhg3 A G 12: 76,622,778 (GRCm39) N673D probably benign Het
Plxna4 A G 6: 32,493,672 (GRCm39) S315P probably benign Het
Psg21 A T 7: 18,388,664 (GRCm39) probably null Het
Rnf111 T C 9: 70,336,889 (GRCm39) T925A probably damaging Het
Spag9 T C 11: 93,984,328 (GRCm39) F734L possibly damaging Het
Tarbp1 A G 8: 127,177,434 (GRCm39) V746A probably benign Het
Tmtc1 A G 6: 148,314,243 (GRCm39) F119L probably benign Het
Usp48 T A 4: 137,362,232 (GRCm39) V765E probably damaging Het
Vmn1r20 A G 6: 57,409,093 (GRCm39) S140G probably benign Het
Vwde A G 6: 13,205,843 (GRCm39) S235P probably damaging Het
Wapl A G 14: 34,414,649 (GRCm39) S504G probably benign Het
Wnt5b A T 6: 119,410,573 (GRCm39) L289Q possibly damaging Het
Zfp142 G A 1: 74,609,376 (GRCm39) probably null Het
Zfp385b ATCTTCTTCTTCT ATCTTCTTCTTCTTCT 2: 77,549,992 (GRCm39) probably benign Het
Zfp948 A G 17: 21,807,813 (GRCm39) H335R 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
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
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'- GGGAATTAGTACAAACGCACAC -3'
(R):5'- AAACATGCTTTGAGGATACGCTC -3'

Sequencing Primer
(F):5'- ACGCTCCAGTCTGAGTTAAC -3'
(R):5'- GCTTTGAGGATACGCTCACAAATG -3'
Posted On 2018-05-21