Incidental Mutation 'R1205:Ttc34'
| ID |
100394 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc34
|
| Ensembl Gene |
ENSMUSG00000046637 |
| Gene Name |
tetratricopeptide repeat domain 34 |
| Synonyms |
B230396O12Rik |
| MMRRC Submission |
039275-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R1205 (G1)
|
| Quality Score |
192 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
154921916-154951584 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 154946671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 857
(V857G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146409
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050220]
[ENSMUST00000207854]
|
| AlphaFold |
Q8C0Q3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050220
AA Change: V348G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000051782
Gene: ENSMUSG00000046637
AA Change: V348G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TPR
|
38 |
68 |
4e-6 |
BLAST |
|
low complexity region
|
69 |
85 |
N/A |
INTRINSIC |
|
TPR
|
166 |
199 |
2.66e0 |
SMART |
|
TPR
|
200 |
233 |
4.45e-2 |
SMART |
|
TPR
|
294 |
327 |
9e1 |
SMART |
|
Blast:TPR
|
328 |
361 |
2e-7 |
BLAST |
|
TPR
|
412 |
445 |
8.77e1 |
SMART |
|
TPR
|
452 |
485 |
1.78e-1 |
SMART |
|
Blast:TPR
|
500 |
533 |
9e-8 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137684
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138795
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151696
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207854
AA Change: V857G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
T |
A |
10: 14,310,083 (GRCm39) |
N774I |
probably damaging |
Het |
| Bpifc |
T |
A |
10: 85,817,168 (GRCm39) |
D230V |
probably damaging |
Het |
| Chrna2 |
C |
T |
14: 66,380,812 (GRCm39) |
A27V |
probably benign |
Het |
| Duox1 |
C |
T |
2: 122,158,406 (GRCm39) |
Q630* |
probably null |
Het |
| Dzip3 |
C |
T |
16: 48,772,044 (GRCm39) |
G542R |
probably damaging |
Het |
| Epha3 |
ATGAACTGCT |
AT |
16: 63,418,611 (GRCm39) |
|
probably null |
Het |
| Fnip1 |
G |
T |
11: 54,393,132 (GRCm39) |
V523L |
possibly damaging |
Het |
| Hc |
T |
A |
2: 34,893,536 (GRCm39) |
D1225V |
possibly damaging |
Het |
| Hnrnpu |
C |
T |
1: 178,159,734 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
C |
T |
5: 31,443,136 (GRCm39) |
V125I |
probably benign |
Het |
| Kcnip2 |
T |
A |
19: 45,783,422 (GRCm39) |
Q93L |
probably null |
Het |
| Kif27 |
A |
T |
13: 58,492,019 (GRCm39) |
H373Q |
probably benign |
Het |
| Kl |
T |
C |
5: 150,904,153 (GRCm39) |
S302P |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,854,787 (GRCm39) |
V2386I |
probably benign |
Het |
| Map4k4 |
G |
A |
1: 40,043,004 (GRCm39) |
A128T |
probably damaging |
Het |
| Marchf6 |
A |
C |
15: 31,469,819 (GRCm39) |
M717R |
probably benign |
Het |
| Morc2b |
A |
G |
17: 33,354,908 (GRCm39) |
Y955H |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,127,395 (GRCm39) |
S636P |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,112,996 (GRCm39) |
D4266V |
probably damaging |
Het |
| Nynrin |
G |
A |
14: 56,091,646 (GRCm39) |
|
probably benign |
Het |
| Or1j18 |
G |
A |
2: 36,624,767 (GRCm39) |
V145I |
probably benign |
Het |
| Or4c107 |
A |
T |
2: 88,788,932 (GRCm39) |
I41L |
probably benign |
Het |
| Or5b104 |
T |
C |
19: 13,072,899 (GRCm39) |
I38V |
probably benign |
Het |
| Pcdh9 |
A |
G |
14: 94,123,501 (GRCm39) |
S890P |
probably benign |
Het |
| Pcnx1 |
G |
T |
12: 82,003,017 (GRCm39) |
D1052Y |
probably damaging |
Het |
| Pibf1 |
G |
A |
14: 99,338,639 (GRCm39) |
E52K |
probably damaging |
Het |
| Siglec1 |
T |
G |
2: 130,922,384 (GRCm39) |
S564R |
possibly damaging |
Het |
| Sin3a |
T |
A |
9: 57,026,459 (GRCm39) |
V1125E |
probably damaging |
Het |
| Slco4c1 |
G |
T |
1: 96,795,613 (GRCm39) |
D148E |
probably damaging |
Het |
| Spag6l |
A |
T |
16: 16,605,171 (GRCm39) |
L127Q |
probably damaging |
Het |
| Syne4 |
C |
A |
7: 30,014,761 (GRCm39) |
T68N |
probably damaging |
Het |
| Tas2r134 |
A |
G |
2: 51,517,998 (GRCm39) |
Y159C |
probably benign |
Het |
| Tasor |
A |
T |
14: 27,183,275 (GRCm39) |
D578V |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,668,079 (GRCm39) |
L867S |
probably benign |
Het |
| Tmem132a |
C |
A |
19: 10,836,448 (GRCm39) |
R694L |
probably benign |
Het |
| Ttc28 |
C |
T |
5: 111,433,635 (GRCm39) |
P2192L |
probably benign |
Het |
| Ugt1a7c |
A |
T |
1: 88,023,678 (GRCm39) |
H279L |
probably benign |
Het |
| Vmn1r32 |
G |
A |
6: 66,530,539 (GRCm39) |
T79I |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,617,905 (GRCm39) |
V2960D |
probably damaging |
Het |
| Wee2 |
G |
T |
6: 40,420,875 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ttc34 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03000:Ttc34
|
APN |
4 |
154,949,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03034:Ttc34
|
APN |
4 |
154,945,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03139:Ttc34
|
APN |
4 |
154,945,727 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1775:Ttc34
|
UTSW |
4 |
154,946,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1935:Ttc34
|
UTSW |
4 |
154,950,139 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1936:Ttc34
|
UTSW |
4 |
154,950,139 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1937:Ttc34
|
UTSW |
4 |
154,950,139 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1939:Ttc34
|
UTSW |
4 |
154,950,139 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1940:Ttc34
|
UTSW |
4 |
154,950,139 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3701:Ttc34
|
UTSW |
4 |
154,949,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5181:Ttc34
|
UTSW |
4 |
154,946,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5845:Ttc34
|
UTSW |
4 |
154,949,929 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6603:Ttc34
|
UTSW |
4 |
154,923,762 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6930:Ttc34
|
UTSW |
4 |
154,923,543 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7209:Ttc34
|
UTSW |
4 |
154,923,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7548:Ttc34
|
UTSW |
4 |
154,940,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7640:Ttc34
|
UTSW |
4 |
154,945,841 (GRCm39) |
missense |
probably benign |
|
|
R7727:Ttc34
|
UTSW |
4 |
154,923,731 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7856:Ttc34
|
UTSW |
4 |
154,945,743 (GRCm39) |
missense |
probably benign |
|
|
R7893:Ttc34
|
UTSW |
4 |
154,945,757 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7894:Ttc34
|
UTSW |
4 |
154,943,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7982:Ttc34
|
UTSW |
4 |
154,945,875 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9462:Ttc34
|
UTSW |
4 |
154,942,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ttc34
|
UTSW |
4 |
154,949,854 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACTCCACCCAAGACAGAGTAG -3'
(R):5'- TGTACCAGGACAAGGTTCCTCAGC -3'
Sequencing Primer
(F):5'- GTCATCAGAGTAGCTCCCTG -3'
(R):5'- catcaagaagggaagggcag -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation