Incidental Mutation 'R3701:Ttc34'
| ID |
258511 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc34
|
| Ensembl Gene |
ENSMUSG00000046637 |
| Gene Name |
tetratricopeptide repeat domain 34 |
| Synonyms |
B230396O12Rik |
| MMRRC Submission |
040694-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R3701 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
154921916-154951584 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 154949939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 964
(F964S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146409
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050220]
[ENSMUST00000079269]
[ENSMUST00000080559]
[ENSMUST00000163732]
[ENSMUST00000207854]
|
| AlphaFold |
Q8C0Q3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050220
AA Change: F455S
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000051782
Gene: ENSMUSG00000046637
AA Change: F455S
| 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: ENSMUST00000079269
|
| SMART Domains |
Protein: ENSMUSP00000078252
Gene: ENSMUSG00000058183
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13_N
|
99 |
498 |
1.7e-135 |
PFAM |
|
Pfam:Peptidase_M13
|
559 |
767 |
1.2e-68 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080559
|
| SMART Domains |
Protein: ENSMUSP00000079399
Gene: ENSMUSG00000058183
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13_N
|
76 |
512 |
4.8e-131 |
PFAM |
|
Pfam:Peptidase_M13
|
573 |
779 |
3.4e-71 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137684
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138795
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151696
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163732
|
| SMART Domains |
Protein: ENSMUSP00000131753
Gene: ENSMUSG00000058183
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M13_N
|
99 |
498 |
1.7e-135 |
PFAM |
|
Pfam:Peptidase_M13
|
559 |
765 |
3.3e-71 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207854
AA Change: F964S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.5257 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (37/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
A |
C |
15: 74,416,864 (GRCm39) |
K757T |
probably damaging |
Het |
| Akr1c19 |
C |
T |
13: 4,293,032 (GRCm39) |
R263C |
probably damaging |
Het |
| Asxl1 |
A |
G |
2: 153,241,264 (GRCm39) |
T605A |
probably benign |
Het |
| Cacna1i |
A |
T |
15: 80,265,272 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
A |
G |
17: 72,106,003 (GRCm39) |
D62G |
probably damaging |
Het |
| Cstf1 |
A |
G |
2: 172,222,312 (GRCm39) |
T357A |
probably benign |
Het |
| Cul5 |
T |
C |
9: 53,540,516 (GRCm39) |
K499E |
probably damaging |
Het |
| Cyld |
T |
A |
8: 89,456,179 (GRCm39) |
S407T |
probably benign |
Het |
| Dnph1 |
G |
A |
17: 46,809,637 (GRCm39) |
G101S |
possibly damaging |
Het |
| Entrep1 |
T |
C |
19: 23,956,831 (GRCm39) |
E354G |
probably benign |
Het |
| Esp38 |
A |
T |
17: 40,266,112 (GRCm39) |
R74* |
probably null |
Het |
| Fdxr |
A |
T |
11: 115,160,527 (GRCm39) |
L336Q |
probably damaging |
Het |
| Hivep1 |
T |
C |
13: 42,311,203 (GRCm39) |
S1148P |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Itgb1bp2 |
T |
C |
X: 100,495,293 (GRCm39) |
|
probably benign |
Het |
| Kcnj5 |
T |
C |
9: 32,229,124 (GRCm39) |
T25A |
possibly damaging |
Het |
| Lyn |
A |
G |
4: 3,742,455 (GRCm39) |
H28R |
probably benign |
Het |
| Nbeal1 |
C |
T |
1: 60,290,572 (GRCm39) |
|
probably benign |
Het |
| Nmur2 |
A |
G |
11: 55,931,603 (GRCm39) |
L36P |
probably damaging |
Het |
| Or14j3 |
G |
A |
17: 37,900,717 (GRCm39) |
Q176* |
probably null |
Het |
| Or6c5c |
A |
T |
10: 129,298,821 (GRCm39) |
Y92F |
probably damaging |
Het |
| Or9i14 |
T |
G |
19: 13,792,712 (GRCm39) |
I81L |
probably benign |
Het |
| Pdgfra |
T |
A |
5: 75,340,881 (GRCm39) |
Y613* |
probably null |
Het |
| Phka2 |
T |
C |
X: 159,316,045 (GRCm39) |
V230A |
possibly damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,145,666 (GRCm39) |
S186P |
probably damaging |
Het |
| Skic3 |
T |
C |
13: 76,261,798 (GRCm39) |
I171T |
probably benign |
Het |
| Snx14 |
T |
C |
9: 88,302,296 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,064,194 (GRCm39) |
V1208A |
probably benign |
Het |
| Tmf1 |
A |
G |
6: 97,149,292 (GRCm39) |
F485S |
possibly damaging |
Het |
| Tnfsf4 |
G |
A |
1: 161,244,778 (GRCm39) |
V156I |
possibly damaging |
Het |
| Trdn |
C |
A |
10: 33,210,980 (GRCm39) |
Q391K |
probably damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,249,818 (GRCm39) |
S818P |
probably damaging |
Het |
| Zbed5 |
G |
A |
5: 129,932,000 (GRCm39) |
D650N |
possibly damaging |
Het |
| Zfp446 |
G |
A |
7: 12,712,079 (GRCm39) |
|
probably benign |
Het |
| Zfp592 |
C |
T |
7: 80,687,159 (GRCm39) |
R821* |
probably null |
Het |
| Zfp647 |
G |
A |
15: 76,795,110 (GRCm39) |
R517W |
probably damaging |
Het |
| Zfp983 |
G |
C |
17: 21,880,455 (GRCm39) |
E128Q |
probably damaging |
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 |
|
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'- GCACTAAGCTACTGTTCTTTGGC -3'
(R):5'- GTCCACTAGGAGTCCATTCTGG -3'
Sequencing Primer
(F):5'- AAGCTACTGTTCTTTGGCCATCC -3'
(R):5'- AAGTGCTCCTCCTCTAGACAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation