Incidental Mutation 'R6156:Ttc22'
ID 489569
Institutional Source Beutler Lab
Gene Symbol Ttc22
Ensembl Gene ENSMUSG00000034919
Gene Name tetratricopeptide repeat domain 22
Synonyms 4732467L16Rik
MMRRC Submission 044303-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R6156 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 106479646-106497393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106495780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 378 (K378R)
Ref Sequence ENSEMBL: ENSMUSP00000035773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047922]
AlphaFold Q8C159
Predicted Effect probably benign
Transcript: ENSMUST00000047922
AA Change: K378R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000035773
Gene: ENSMUSG00000034919
AA Change: K378R

DomainStartEndE-ValueType
low complexity region 9 19 N/A INTRINSIC
low complexity region 46 59 N/A INTRINSIC
TPR 66 99 2.3e1 SMART
Pfam:TPR_8 100 128 2.5e-3 PFAM
TPR 295 328 2.99e1 SMART
TPR 432 465 6.19e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136505
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 97% (68/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with seven tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,689,488 (GRCm39) probably null Het
Ank2 T C 3: 126,737,886 (GRCm39) D2579G probably damaging Het
Atp6v1b1 G C 6: 83,735,115 (GRCm39) G423R probably damaging Het
B4galnt3 T C 6: 120,191,801 (GRCm39) N644S probably benign Het
Bhmt1b C A 18: 87,775,231 (GRCm39) Y251* probably null Het
Capsl T G 15: 9,465,920 (GRCm39) M132R probably damaging Het
Cep120 A G 18: 53,836,295 (GRCm39) Y797H probably benign Het
Cimip4 T C 15: 78,263,013 (GRCm39) T214A probably damaging Het
Clec2e T A 6: 129,072,061 (GRCm39) D106V possibly damaging Het
Col6a2 C T 10: 76,440,004 (GRCm39) V634I possibly damaging Het
Dis3 T C 14: 99,336,215 (GRCm39) E97G probably benign Het
Dlec1 T C 9: 118,939,281 (GRCm39) probably null Het
Dock2 C A 11: 34,197,789 (GRCm39) V1484F possibly damaging Het
Ephb2 T A 4: 136,388,816 (GRCm39) M593L probably benign Het
Fcgrt T C 7: 44,751,484 (GRCm39) T125A probably benign Het
Gabbr1 T C 17: 37,359,319 (GRCm39) I98T probably benign Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gfod1 T C 13: 43,354,514 (GRCm39) S154G possibly damaging Het
Ggt5 C T 10: 75,445,160 (GRCm39) T389I probably damaging Het
Got2 A G 8: 96,598,896 (GRCm39) F169L probably benign Het
Gse1 A G 8: 121,215,866 (GRCm39) K5E possibly damaging Het
Hyal5 T C 6: 24,891,437 (GRCm39) I417T possibly damaging Het
Igkv4-91 G T 6: 68,745,607 (GRCm39) T97K probably damaging Het
Il4i1 T C 7: 44,489,608 (GRCm39) Y458H possibly damaging Het
Impg1 A T 9: 80,230,106 (GRCm39) C740S probably damaging Het
Itgb1 C G 8: 129,458,535 (GRCm39) T788R possibly damaging Het
Lman2l A G 1: 36,477,907 (GRCm39) V143A probably damaging Het
Ltbp4 G T 7: 27,029,587 (GRCm39) T136K unknown Het
Macf1 A G 4: 123,366,073 (GRCm39) I1331T probably benign Het
Mmp11 G A 10: 75,762,325 (GRCm39) A336V probably damaging Het
Myh2 A T 11: 67,071,879 (GRCm39) I536F probably damaging Het
Myh4 A G 11: 67,141,618 (GRCm39) M826V probably benign Het
Naca T C 10: 127,875,160 (GRCm39) probably benign Het
Nr4a2 A G 2: 57,002,364 (GRCm39) Y30H probably damaging Het
Or12j4 A G 7: 140,046,758 (GRCm39) T215A probably benign Het
Or1e35 A T 11: 73,797,447 (GRCm39) Y290* probably null Het
Or2n1d T A 17: 38,646,064 (GRCm39) N5K probably damaging Het
Or4a67 T A 2: 88,597,934 (GRCm39) I242L probably benign Het
Or4f14d A T 2: 111,960,445 (GRCm39) L237Q probably damaging Het
Or4k42 A T 2: 111,320,095 (GRCm39) M136K probably damaging Het
Or4z4 A G 19: 12,076,484 (GRCm39) V173A possibly damaging Het
Or8g22 T A 9: 38,958,671 (GRCm39) M15L possibly damaging Het
Paqr3 A C 5: 97,256,128 (GRCm39) L82R probably damaging Het
Pex6 C T 17: 47,031,567 (GRCm39) P456S probably benign Het
Pih1d2 A T 9: 50,532,452 (GRCm39) K186I possibly damaging Het
Plekhh3 A G 11: 101,061,013 (GRCm39) probably benign Het
Ptpn23 C A 9: 110,216,849 (GRCm39) probably benign Het
Rcor3 T A 1: 191,812,142 (GRCm39) probably benign Het
Rgs11 T A 17: 26,429,439 (GRCm39) Y403* probably null Het
Scn10a T C 9: 119,464,649 (GRCm39) N984D probably benign Het
Snx14 C T 9: 88,289,392 (GRCm39) A287T possibly damaging Het
Stx3 T C 19: 11,780,874 (GRCm39) D33G probably damaging Het
Tacc2 A G 7: 130,227,494 (GRCm39) K1393R probably damaging Het
Tas2r129 T C 6: 132,928,455 (GRCm39) S131P probably benign Het
Tbx15 G T 3: 99,220,431 (GRCm39) probably null Het
Thada A G 17: 84,700,795 (GRCm39) V1237A probably damaging Het
Tnc A G 4: 63,888,589 (GRCm39) Y1735H probably damaging Het
Tubg2 A G 11: 101,051,635 (GRCm39) K287E possibly damaging Het
Ugt3a1 T C 15: 9,310,762 (GRCm39) I348T possibly damaging Het
Unc79 A G 12: 103,027,717 (GRCm39) N436S probably damaging Het
Unc80 A T 1: 66,651,409 (GRCm39) I1585F probably benign Het
Vmn2r104 T C 17: 20,261,909 (GRCm39) Y407C probably damaging Het
Vmn2r108 T A 17: 20,692,447 (GRCm39) L136F probably benign Het
Vmn2r38 A G 7: 9,097,611 (GRCm39) S161P probably damaging Het
Vmn2r90 T C 17: 17,953,606 (GRCm39) I590T probably benign Het
Washc5 T C 15: 59,217,248 (GRCm39) E323G probably damaging Het
Wdhd1 C T 14: 47,505,653 (GRCm39) G273D probably damaging Het
Xpo6 G T 7: 125,708,016 (GRCm39) Q851K probably damaging Het
Zfp386 T C 12: 116,023,526 (GRCm39) S380P probably damaging Het
Zfp536 A G 7: 37,173,281 (GRCm39) C274R unknown Het
Zfp64 A G 2: 168,768,088 (GRCm39) I508T probably benign Het
Other mutations in Ttc22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01718:Ttc22 APN 4 106,495,773 (GRCm39) missense probably damaging 1.00
IGL01749:Ttc22 APN 4 106,495,800 (GRCm39) missense probably benign 0.04
IGL02189:Ttc22 APN 4 106,496,354 (GRCm39) missense probably benign 0.21
IGL02206:Ttc22 APN 4 106,493,186 (GRCm39) missense probably damaging 1.00
IGL02219:Ttc22 APN 4 106,495,687 (GRCm39) missense probably damaging 0.97
IGL02348:Ttc22 APN 4 106,480,135 (GRCm39) missense probably damaging 1.00
IGL02754:Ttc22 APN 4 106,495,669 (GRCm39) missense probably benign 0.22
IGL02982:Ttc22 APN 4 106,495,783 (GRCm39) missense probably damaging 0.97
R0044:Ttc22 UTSW 4 106,494,003 (GRCm39) missense probably benign
R0607:Ttc22 UTSW 4 106,496,510 (GRCm39) missense possibly damaging 0.72
R0611:Ttc22 UTSW 4 106,491,381 (GRCm39) missense probably damaging 1.00
R1148:Ttc22 UTSW 4 106,480,228 (GRCm39) missense probably damaging 1.00
R1148:Ttc22 UTSW 4 106,480,228 (GRCm39) missense probably damaging 1.00
R1466:Ttc22 UTSW 4 106,479,977 (GRCm39) missense probably damaging 1.00
R1466:Ttc22 UTSW 4 106,479,977 (GRCm39) missense probably damaging 1.00
R1584:Ttc22 UTSW 4 106,479,977 (GRCm39) missense probably damaging 1.00
R1654:Ttc22 UTSW 4 106,491,408 (GRCm39) missense probably damaging 1.00
R1776:Ttc22 UTSW 4 106,496,237 (GRCm39) missense possibly damaging 0.64
R1864:Ttc22 UTSW 4 106,494,003 (GRCm39) missense probably benign
R1886:Ttc22 UTSW 4 106,494,063 (GRCm39) critical splice donor site probably null
R2136:Ttc22 UTSW 4 106,479,869 (GRCm39) missense possibly damaging 0.49
R2156:Ttc22 UTSW 4 106,496,237 (GRCm39) missense probably benign 0.43
R2267:Ttc22 UTSW 4 106,496,282 (GRCm39) missense possibly damaging 0.60
R2698:Ttc22 UTSW 4 106,496,435 (GRCm39) missense probably benign
R3162:Ttc22 UTSW 4 106,480,276 (GRCm39) missense probably damaging 0.97
R3162:Ttc22 UTSW 4 106,480,276 (GRCm39) missense probably damaging 0.97
R3754:Ttc22 UTSW 4 106,496,278 (GRCm39) missense probably damaging 0.99
R5399:Ttc22 UTSW 4 106,493,954 (GRCm39) missense probably damaging 1.00
R5839:Ttc22 UTSW 4 106,495,717 (GRCm39) missense probably damaging 0.99
R6678:Ttc22 UTSW 4 106,480,242 (GRCm39) missense probably benign 0.17
R6912:Ttc22 UTSW 4 106,495,800 (GRCm39) missense probably benign 0.04
R7094:Ttc22 UTSW 4 106,493,104 (GRCm39) nonsense probably null
R8166:Ttc22 UTSW 4 106,491,673 (GRCm39) missense probably damaging 0.99
R8253:Ttc22 UTSW 4 106,495,717 (GRCm39) missense probably damaging 0.99
R8334:Ttc22 UTSW 4 106,496,115 (GRCm39) splice site probably null
Z1177:Ttc22 UTSW 4 106,479,720 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TGCTGAGAAGCAATCTGGC -3'
(R):5'- TCATGGGCTGACTGCTAAGAG -3'

Sequencing Primer
(F):5'- AGCAATCTGGCTTTTTCATTGG -3'
(R):5'- GCTGACTGCTAAGAGGGGTG -3'
Posted On 2017-10-10