Incidental Mutation 'IGL01718:Ttc22'
| ID |
105004 |
| 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 # |
IGL01718
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
106479646-106497393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 106495773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 376
(V376M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047922]
|
| AlphaFold |
Q8C159 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047922
AA Change: V376M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035773
Gene: ENSMUSG00000034919
AA Change: V376M
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a3 |
A |
G |
7: 66,049,953 (GRCm39) |
F422L |
possibly damaging |
Het |
| Ap2m1 |
T |
C |
16: 20,360,944 (GRCm39) |
|
probably benign |
Het |
| Asic1 |
A |
G |
15: 99,569,883 (GRCm39) |
Y68C |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,349,214 (GRCm39) |
D1002G |
possibly damaging |
Het |
| Cyp2c29 |
A |
T |
19: 39,318,704 (GRCm39) |
I434F |
possibly damaging |
Het |
| Diaph3 |
T |
A |
14: 86,893,774 (GRCm39) |
R78S |
unknown |
Het |
| Dnase1l2 |
T |
C |
17: 24,660,690 (GRCm39) |
D188G |
possibly damaging |
Het |
| Exosc9 |
T |
C |
3: 36,608,078 (GRCm39) |
|
probably benign |
Het |
| Fgf23 |
G |
A |
6: 127,057,436 (GRCm39) |
V251I |
probably benign |
Het |
| Fndc3c1 |
T |
C |
X: 105,489,534 (GRCm39) |
T296A |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,938,617 (GRCm39) |
E633G |
probably damaging |
Het |
| Gpr155 |
T |
C |
2: 73,212,576 (GRCm39) |
M16V |
probably benign |
Het |
| Jakmip3 |
T |
G |
7: 138,591,121 (GRCm39) |
S2A |
possibly damaging |
Het |
| Lrba |
T |
A |
3: 86,258,555 (GRCm39) |
N1347K |
probably damaging |
Het |
| Mars1 |
T |
C |
10: 127,141,707 (GRCm39) |
R266G |
possibly damaging |
Het |
| Mplkipl1 |
A |
G |
19: 61,164,199 (GRCm39) |
S79P |
probably damaging |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,675 (GRCm39) |
|
probably null |
Het |
| Or7g20 |
T |
A |
9: 18,946,584 (GRCm39) |
L55* |
probably null |
Het |
| Pdzk1ip1 |
T |
A |
4: 114,950,111 (GRCm39) |
|
probably benign |
Het |
| Ppid |
G |
T |
3: 79,500,986 (GRCm39) |
C52F |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,152,512 (GRCm39) |
I2318T |
possibly damaging |
Het |
| Rhpn2 |
G |
A |
7: 35,070,179 (GRCm39) |
D146N |
probably benign |
Het |
| Tspoap1 |
G |
T |
11: 87,671,081 (GRCm39) |
R1670L |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,560,746 (GRCm39) |
L29218F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,560,748 (GRCm39) |
L29218I |
probably damaging |
Het |
| Zfp609 |
G |
A |
9: 65,609,682 (GRCm39) |
Q1094* |
probably null |
Het |
| Zfp831 |
C |
T |
2: 174,485,631 (GRCm39) |
T102I |
possibly damaging |
Het |
| Zglp1 |
C |
T |
9: 20,974,675 (GRCm39) |
C171Y |
probably benign |
Het |
|
| Other mutations in Ttc22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation