Incidental Mutation 'IGL00571:Ttc33'
| ID |
5851 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ttc33
|
| Ensembl Gene |
ENSMUSG00000022151 |
| Gene Name |
tetratricopeptide repeat domain 33 |
| Synonyms |
2900001O04Rik, 2410099M07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
IGL00571
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
5215006-5247817 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5246809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 205
(D205G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022751]
[ENSMUST00000081640]
[ENSMUST00000118193]
[ENSMUST00000144653]
|
| AlphaFold |
Q9D6K7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022751
AA Change: D205G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022751
Gene: ENSMUSG00000022151
AA Change: D205G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
37 |
N/A |
INTRINSIC |
|
Pfam:TPR_11
|
57 |
124 |
2e-13 |
PFAM |
|
Pfam:TPR_2
|
61 |
92 |
1.4e-5 |
PFAM |
|
Pfam:TPR_1
|
127 |
160 |
8.7e-4 |
PFAM |
|
Pfam:TPR_2
|
127 |
160 |
6.7e-4 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081640
|
| SMART Domains |
Protein: ENSMUSP00000080345
Gene: ENSMUSG00000022151
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
37 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118193
AA Change: D205G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114033
Gene: ENSMUSG00000022151
AA Change: D205G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
37 |
N/A |
INTRINSIC |
|
Pfam:TPR_11
|
57 |
124 |
7.6e-13 |
PFAM |
|
Pfam:TPR_2
|
61 |
92 |
1.4e-5 |
PFAM |
|
Pfam:TPR_2
|
127 |
160 |
6.6e-4 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133966
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144653
|
| SMART Domains |
Protein: ENSMUSP00000122250
Gene: ENSMUSG00000022151
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
37 |
N/A |
INTRINSIC |
|
Pfam:TPR_9
|
55 |
103 |
3.2e-2 |
PFAM |
|
Pfam:TPR_11
|
57 |
124 |
1.5e-13 |
PFAM |
|
Pfam:TPR_2
|
60 |
92 |
1.3e-5 |
PFAM |
|
Pfam:TPR_9
|
101 |
163 |
1.4e-3 |
PFAM |
|
Pfam:TPR_1
|
127 |
160 |
7.9e-4 |
PFAM |
|
Pfam:TPR_2
|
127 |
160 |
6.3e-4 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abr |
T |
G |
11: 76,359,566 (GRCm39) |
S180R |
probably benign |
Het |
| Atrn |
G |
T |
2: 130,836,968 (GRCm39) |
R1144L |
probably damaging |
Het |
| Dsc1 |
G |
T |
18: 20,243,195 (GRCm39) |
S86Y |
probably damaging |
Het |
| Ets2 |
C |
A |
16: 95,513,185 (GRCm39) |
N120K |
probably benign |
Het |
| Fas |
A |
T |
19: 34,296,018 (GRCm39) |
T154S |
probably damaging |
Het |
| Fbxo41 |
T |
C |
6: 85,455,084 (GRCm39) |
|
probably null |
Het |
| Fzd8 |
A |
T |
18: 9,213,068 (GRCm39) |
Y50F |
unknown |
Het |
| Hmcn1 |
C |
T |
1: 150,514,750 (GRCm39) |
V3541I |
probably benign |
Het |
| Il6st |
G |
A |
13: 112,624,394 (GRCm39) |
V215M |
probably damaging |
Het |
| Kif13b |
G |
A |
14: 64,983,866 (GRCm39) |
V581M |
probably damaging |
Het |
| Liph |
A |
G |
16: 21,786,890 (GRCm39) |
F242S |
probably damaging |
Het |
| Nacc2 |
T |
C |
2: 25,979,702 (GRCm39) |
T245A |
probably benign |
Het |
| Nlrp1b |
C |
T |
11: 71,054,799 (GRCm39) |
D889N |
probably null |
Het |
| Parp4 |
T |
A |
14: 56,884,810 (GRCm39) |
S1296R |
unknown |
Het |
| Prr23a4 |
A |
C |
9: 98,785,739 (GRCm39) |
T135P |
possibly damaging |
Het |
| Sec24a |
G |
A |
11: 51,627,331 (GRCm39) |
Q194* |
probably null |
Het |
| Slco6c1 |
T |
C |
1: 97,015,676 (GRCm39) |
N372D |
probably benign |
Het |
| Sprr2a3 |
T |
A |
3: 92,196,074 (GRCm39) |
Y60* |
probably null |
Het |
| Tdrd6 |
T |
A |
17: 43,939,051 (GRCm39) |
I666F |
probably damaging |
Het |
| Tlr1 |
T |
C |
5: 65,083,777 (GRCm39) |
I267V |
probably benign |
Het |
| Tmtc2 |
A |
G |
10: 105,157,307 (GRCm39) |
I633T |
possibly damaging |
Het |
| Uspl1 |
A |
G |
5: 149,125,170 (GRCm39) |
K26E |
probably damaging |
Het |
| Zfp639 |
A |
G |
3: 32,574,068 (GRCm39) |
D231G |
probably damaging |
Het |
|
| Other mutations in Ttc33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03240:Ttc33
|
APN |
15 |
5,246,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1603:Ttc33
|
UTSW |
15 |
5,219,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1750:Ttc33
|
UTSW |
15 |
5,241,579 (GRCm39) |
nonsense |
probably null |
|
|
R2115:Ttc33
|
UTSW |
15 |
5,241,534 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2209:Ttc33
|
UTSW |
15 |
5,237,924 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6530:Ttc33
|
UTSW |
15 |
5,241,603 (GRCm39) |
splice site |
probably null |
|
|
R6971:Ttc33
|
UTSW |
15 |
5,241,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7120:Ttc33
|
UTSW |
15 |
5,241,488 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7264:Ttc33
|
UTSW |
15 |
5,246,718 (GRCm39) |
nonsense |
probably null |
|
|
R7821:Ttc33
|
UTSW |
15 |
5,241,506 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation