Incidental Mutation 'IGL02206:Ttc22'
| ID |
284465 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ttc22
|
| Ensembl Gene |
ENSMUSG00000034919 |
| Gene Name |
tetratricopeptide repeat domain 22 |
| Synonyms |
4732467L16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
IGL02206
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
106479646-106497393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106493186 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 278
(T278A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047922]
|
| AlphaFold |
Q8C159 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047922
AA Change: T278A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000035773
Gene: ENSMUSG00000034919
AA Change: T278A
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Validation Efficiency |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
T |
11: 84,151,573 (GRCm39) |
K824* |
probably null |
Het |
| Acot12 |
A |
G |
13: 91,908,106 (GRCm39) |
D96G |
probably damaging |
Het |
| Acvr2b |
C |
T |
9: 119,257,064 (GRCm39) |
Q98* |
probably null |
Het |
| Aldh8a1 |
T |
C |
10: 21,271,474 (GRCm39) |
V400A |
probably benign |
Het |
| Aox1 |
C |
A |
1: 58,104,499 (GRCm39) |
H559N |
probably benign |
Het |
| Arhgef18 |
T |
A |
8: 3,495,034 (GRCm39) |
I431N |
probably benign |
Het |
| Atad5 |
A |
G |
11: 79,985,009 (GRCm39) |
D32G |
probably damaging |
Het |
| Cgas |
T |
C |
9: 78,350,362 (GRCm39) |
|
probably null |
Het |
| Cmtm8 |
T |
C |
9: 114,672,967 (GRCm39) |
H10R |
probably benign |
Het |
| Cnn1 |
T |
G |
9: 22,015,674 (GRCm39) |
|
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Defb23 |
C |
A |
2: 152,306,455 (GRCm39) |
E20* |
probably null |
Het |
| Dennd2a |
A |
T |
6: 39,500,383 (GRCm39) |
S61T |
probably damaging |
Het |
| Fam13a |
A |
T |
6: 58,964,204 (GRCm39) |
I76K |
probably benign |
Het |
| Fgd5 |
A |
G |
6: 91,964,239 (GRCm39) |
|
probably benign |
Het |
| Flt4 |
A |
T |
11: 49,521,217 (GRCm39) |
R409W |
probably damaging |
Het |
| Gramd1b |
T |
C |
9: 40,211,328 (GRCm39) |
T652A |
probably benign |
Het |
| Grik1 |
C |
T |
16: 87,732,808 (GRCm39) |
G703D |
probably damaging |
Het |
| Impg2 |
A |
G |
16: 56,079,960 (GRCm39) |
E479G |
possibly damaging |
Het |
| Itpr1 |
A |
G |
6: 108,526,781 (GRCm39) |
N2743S |
probably damaging |
Het |
| Klc1 |
A |
G |
12: 111,744,550 (GRCm39) |
|
probably benign |
Het |
| Ndufa9 |
G |
A |
6: 126,821,366 (GRCm39) |
R75* |
probably null |
Het |
| Neurl4 |
A |
G |
11: 69,801,166 (GRCm39) |
N1181S |
probably damaging |
Het |
| Or5an9 |
T |
C |
19: 12,187,824 (GRCm39) |
I298T |
probably damaging |
Het |
| Phf1 |
A |
G |
17: 27,155,843 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,376,245 (GRCm39) |
I969T |
probably benign |
Het |
| Pprc1 |
G |
A |
19: 46,060,190 (GRCm39) |
R1538Q |
probably damaging |
Het |
| Rasd1 |
C |
T |
11: 59,854,778 (GRCm39) |
G234D |
possibly damaging |
Het |
| Rnf152 |
T |
C |
1: 105,212,549 (GRCm39) |
T3A |
probably benign |
Het |
| Rrh |
C |
T |
3: 129,605,346 (GRCm39) |
V115I |
probably benign |
Het |
| Rundc3a |
G |
T |
11: 102,290,460 (GRCm39) |
E217* |
probably null |
Het |
| Sae1 |
A |
T |
7: 16,064,581 (GRCm39) |
V306E |
possibly damaging |
Het |
| Serpinb7 |
T |
C |
1: 107,363,102 (GRCm39) |
S89P |
possibly damaging |
Het |
| Serpinb9h |
A |
G |
13: 33,588,182 (GRCm39) |
T256A |
probably damaging |
Het |
| Sgo2b |
T |
A |
8: 64,394,118 (GRCm39) |
T74S |
possibly damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,604,022 (GRCm39) |
D48G |
probably damaging |
Het |
| Stn1 |
T |
C |
19: 47,504,612 (GRCm39) |
M177V |
possibly damaging |
Het |
| Tgm1 |
T |
C |
14: 55,942,392 (GRCm39) |
E653G |
possibly damaging |
Het |
| Thsd4 |
T |
C |
9: 60,301,398 (GRCm39) |
K299R |
probably benign |
Het |
| Ubl4b |
G |
T |
3: 107,462,141 (GRCm39) |
Q40K |
possibly damaging |
Het |
| Zfp677 |
A |
G |
17: 21,613,499 (GRCm39) |
D31G |
probably damaging |
Het |
|
| Other mutations in Ttc22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
R6156:Ttc22
|
UTSW |
4 |
106,495,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation