Incidental Mutation 'R7856:Ttc34'
ID |
607229 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc34
|
Ensembl Gene |
ENSMUSG00000046637 |
Gene Name |
tetratricopeptide repeat domain 34 |
Synonyms |
B230396O12Rik |
MMRRC Submission |
045909-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
R7856 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
154921916-154951584 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 154945743 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 259
(V259A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051782
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050220]
[ENSMUST00000207854]
|
AlphaFold |
Q8C0Q3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050220
AA Change: V259A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000051782 Gene: ENSMUSG00000046637 AA Change: V259A
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 |
probably benign
Transcript: ENSMUST00000207854
AA Change: V768A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (36/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cacna1h |
T |
C |
17: 25,608,451 (GRCm39) |
T819A |
probably damaging |
Het |
Ccdc34 |
T |
A |
2: 109,874,572 (GRCm39) |
Y310* |
probably null |
Het |
Ccdc63 |
A |
G |
5: 122,268,006 (GRCm39) |
W8R |
probably benign |
Het |
Ces2g |
G |
A |
8: 105,693,014 (GRCm39) |
V351I |
not run |
Het |
Ces3b |
A |
G |
8: 105,819,894 (GRCm39) |
*572W |
probably null |
Het |
Dgka |
T |
C |
10: 128,572,533 (GRCm39) |
N40S |
probably benign |
Het |
Dnajc13 |
C |
A |
9: 104,044,684 (GRCm39) |
R1835L |
possibly damaging |
Het |
Dusp7 |
C |
A |
9: 106,246,067 (GRCm39) |
A24E |
unknown |
Het |
Ep400 |
T |
A |
5: 110,814,450 (GRCm39) |
T2931S |
probably damaging |
Het |
Gm4847 |
A |
T |
1: 166,462,395 (GRCm39) |
L365Q |
probably damaging |
Het |
Gtse1 |
C |
T |
15: 85,748,342 (GRCm39) |
T249M |
probably benign |
Het |
Hook3 |
T |
C |
8: 26,525,249 (GRCm39) |
D619G |
probably damaging |
Het |
Itsn1 |
T |
A |
16: 91,705,375 (GRCm39) |
|
probably null |
Het |
Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
Mx1 |
A |
G |
16: 97,256,735 (GRCm39) |
I148T |
probably damaging |
Het |
Or5m3 |
T |
A |
2: 85,838,640 (GRCm39) |
N173K |
probably damaging |
Het |
Or6c1b |
A |
G |
10: 129,272,885 (GRCm39) |
E68G |
probably damaging |
Het |
Orc3 |
T |
C |
4: 34,585,647 (GRCm39) |
I416V |
probably benign |
Het |
Plcxd3 |
A |
T |
15: 4,546,581 (GRCm39) |
Y195F |
probably damaging |
Het |
Ppp1r3a |
A |
T |
6: 14,718,025 (GRCm39) |
I963N |
probably benign |
Het |
Ppp1r7 |
A |
G |
1: 93,278,068 (GRCm39) |
D69G |
possibly damaging |
Het |
Rars1 |
A |
G |
11: 35,699,412 (GRCm39) |
V627A |
probably benign |
Het |
Sash1 |
A |
G |
10: 8,605,472 (GRCm39) |
S973P |
probably benign |
Het |
Slc22a28 |
T |
C |
19: 8,040,698 (GRCm39) |
T518A |
probably damaging |
Het |
Slc4a9 |
C |
T |
18: 36,661,751 (GRCm39) |
H92Y |
probably benign |
Het |
Son |
A |
G |
16: 91,456,146 (GRCm39) |
D1631G |
probably damaging |
Het |
Stat5a |
T |
C |
11: 100,774,728 (GRCm39) |
W746R |
unknown |
Het |
Thsd4 |
A |
T |
9: 59,910,144 (GRCm39) |
L508Q |
probably damaging |
Het |
Tlx1 |
C |
T |
19: 45,144,427 (GRCm39) |
Q292* |
probably null |
Het |
Xrn2 |
T |
G |
2: 146,910,393 (GRCm39) |
|
probably null |
Het |
Yif1b |
A |
G |
7: 28,944,045 (GRCm39) |
D137G |
possibly damaging |
Het |
Zfp850 |
A |
G |
7: 27,689,899 (GRCm39) |
I103T |
probably benign |
Het |
Zfp937 |
T |
C |
2: 150,081,467 (GRCm39) |
V499A |
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 |
R1205:Ttc34
|
UTSW |
4 |
154,946,671 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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'- TGGGTAGGCCATGGATAGTC -3'
(R):5'- ATGTGGCACAGAGACCCATG -3'
Sequencing Primer
(F):5'- GCCATGGATAGTCGGAGC -3'
(R):5'- AGAGACCCATGTCCCCTG -3'
|
Posted On |
2019-12-20 |