Incidental Mutation 'PIT4687001:Ttc39d'
ID |
556209 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc39d
|
Ensembl Gene |
ENSMUSG00000046196 |
Gene Name |
tetratricopeptide repeat domain 39D |
Synonyms |
4930560E09Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.178)
|
Stock # |
PIT4687001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
80523343-80525365 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 80524354 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 338
(A338T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123158
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053168]
[ENSMUST00000134652]
|
AlphaFold |
Q0VF76 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053168
AA Change: A338T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000053781 Gene: ENSMUSG00000046196 AA Change: A338T
Domain | Start | End | E-Value | Type |
Pfam:DUF3808
|
69 |
522 |
9.6e-149 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000134652
AA Change: A338T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123158 Gene: ENSMUSG00000046196 AA Change: A338T
Domain | Start | End | E-Value | Type |
Pfam:DUF3808
|
69 |
522 |
7.2e-150 |
PFAM |
|
Coding Region Coverage |
- 1x: 93.4%
- 3x: 90.8%
- 10x: 84.7%
- 20x: 71.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh1 |
T |
G |
3: 137,995,596 (GRCm39) |
V333G |
probably damaging |
Het |
Aggf1 |
A |
G |
13: 95,501,383 (GRCm39) |
L333P |
probably damaging |
Het |
Ankmy1 |
A |
G |
1: 92,812,803 (GRCm39) |
V502A |
probably benign |
Het |
Atm |
A |
G |
9: 53,398,112 (GRCm39) |
|
probably null |
Het |
Ccdc180 |
A |
G |
4: 45,949,526 (GRCm39) |
T1594A |
probably damaging |
Het |
Cep290 |
T |
A |
10: 100,373,453 (GRCm39) |
D1244E |
probably benign |
Het |
Ctnna3 |
A |
G |
10: 64,670,385 (GRCm39) |
D638G |
probably damaging |
Het |
Ctsr |
T |
C |
13: 61,308,346 (GRCm39) |
H266R |
possibly damaging |
Het |
D630045J12Rik |
C |
T |
6: 38,172,036 (GRCm39) |
E711K |
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,383,723 (GRCm39) |
S2982P |
probably damaging |
Het |
Dsg1a |
G |
T |
18: 20,464,755 (GRCm39) |
A417S |
probably benign |
Het |
Gdpd1 |
T |
C |
11: 86,950,366 (GRCm39) |
D69G |
probably damaging |
Het |
Gp2 |
C |
T |
7: 119,050,801 (GRCm39) |
R310H |
possibly damaging |
Het |
Ifna2 |
G |
A |
4: 88,601,542 (GRCm39) |
H159Y |
possibly damaging |
Het |
Kptn |
T |
C |
7: 15,859,751 (GRCm39) |
V325A |
probably damaging |
Het |
Marchf7 |
A |
G |
2: 60,062,622 (GRCm39) |
E143G |
probably damaging |
Het |
Mcm4 |
A |
G |
16: 15,454,577 (GRCm39) |
L47P |
probably benign |
Het |
Mcm8 |
T |
C |
2: 132,659,097 (GRCm39) |
F27S |
possibly damaging |
Het |
Nod2 |
T |
A |
8: 89,408,274 (GRCm39) |
V967E |
probably damaging |
Het |
Nrxn2 |
G |
A |
19: 6,531,338 (GRCm39) |
R659Q |
probably benign |
Het |
Or10al4 |
T |
G |
17: 38,037,082 (GRCm39) |
C56G |
probably benign |
Het |
Or4x12-ps1 |
A |
G |
2: 89,916,733 (GRCm39) |
V24A |
probably benign |
Het |
Parp10 |
C |
T |
15: 76,125,122 (GRCm39) |
R545Q |
probably benign |
Het |
Ppp2r3d |
T |
C |
9: 101,021,579 (GRCm39) |
E332G |
probably benign |
Het |
Pramel27 |
C |
T |
4: 143,573,103 (GRCm39) |
|
probably benign |
Het |
Ptpdc1 |
A |
G |
13: 48,739,766 (GRCm39) |
V555A |
probably benign |
Het |
Qsox2 |
G |
A |
2: 26,112,300 (GRCm39) |
L81F |
possibly damaging |
Het |
Sbsn |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
7: 30,452,391 (GRCm39) |
|
probably benign |
Het |
Spata31 |
A |
G |
13: 65,069,151 (GRCm39) |
D433G |
probably benign |
Het |
Stpg2 |
T |
C |
3: 138,921,026 (GRCm39) |
I77T |
possibly damaging |
Het |
Sugp2 |
T |
C |
8: 70,710,162 (GRCm39) |
S928P |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,308,390 (GRCm39) |
S722P |
possibly damaging |
Het |
Szt2 |
A |
T |
4: 118,255,398 (GRCm39) |
S229T |
possibly damaging |
Het |
Tm9sf3 |
A |
G |
19: 41,206,630 (GRCm39) |
L505P |
probably damaging |
Het |
Ubash3b |
A |
G |
9: 40,934,814 (GRCm39) |
F489L |
probably damaging |
Het |
Xpo7 |
A |
T |
14: 70,904,589 (GRCm39) |
Y1015N |
probably benign |
Het |
Zbtb14 |
C |
A |
17: 69,695,302 (GRCm39) |
Y333* |
probably null |
Het |
Zp2 |
T |
C |
7: 119,741,102 (GRCm39) |
T141A |
probably benign |
Het |
|
Other mutations in Ttc39d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00835:Ttc39d
|
APN |
17 |
80,523,955 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01065:Ttc39d
|
APN |
17 |
80,523,703 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01834:Ttc39d
|
APN |
17 |
80,523,475 (GRCm39) |
missense |
probably benign |
|
IGL02541:Ttc39d
|
APN |
17 |
80,523,875 (GRCm39) |
missense |
probably damaging |
0.99 |
R0042:Ttc39d
|
UTSW |
17 |
80,523,379 (GRCm39) |
missense |
probably benign |
0.02 |
R0042:Ttc39d
|
UTSW |
17 |
80,523,379 (GRCm39) |
missense |
probably benign |
0.02 |
R0124:Ttc39d
|
UTSW |
17 |
80,524,375 (GRCm39) |
missense |
probably damaging |
1.00 |
R0523:Ttc39d
|
UTSW |
17 |
80,523,886 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0801:Ttc39d
|
UTSW |
17 |
80,523,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R1581:Ttc39d
|
UTSW |
17 |
80,523,913 (GRCm39) |
missense |
probably benign |
0.02 |
R2071:Ttc39d
|
UTSW |
17 |
80,524,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R2271:Ttc39d
|
UTSW |
17 |
80,524,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R2272:Ttc39d
|
UTSW |
17 |
80,524,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R2520:Ttc39d
|
UTSW |
17 |
80,523,799 (GRCm39) |
missense |
probably benign |
0.17 |
R2885:Ttc39d
|
UTSW |
17 |
80,524,144 (GRCm39) |
missense |
probably benign |
0.00 |
R2939:Ttc39d
|
UTSW |
17 |
80,524,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R2940:Ttc39d
|
UTSW |
17 |
80,524,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R3081:Ttc39d
|
UTSW |
17 |
80,524,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R4669:Ttc39d
|
UTSW |
17 |
80,525,068 (GRCm39) |
missense |
probably benign |
0.00 |
R4872:Ttc39d
|
UTSW |
17 |
80,524,527 (GRCm39) |
missense |
probably benign |
0.00 |
R4951:Ttc39d
|
UTSW |
17 |
80,523,462 (GRCm39) |
missense |
probably benign |
0.01 |
R6260:Ttc39d
|
UTSW |
17 |
80,524,076 (GRCm39) |
nonsense |
probably null |
|
R7018:Ttc39d
|
UTSW |
17 |
80,523,610 (GRCm39) |
missense |
probably benign |
0.06 |
R7042:Ttc39d
|
UTSW |
17 |
80,523,891 (GRCm39) |
missense |
probably benign |
0.00 |
R7468:Ttc39d
|
UTSW |
17 |
80,523,579 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7761:Ttc39d
|
UTSW |
17 |
80,524,741 (GRCm39) |
missense |
probably damaging |
0.98 |
R7825:Ttc39d
|
UTSW |
17 |
80,523,575 (GRCm39) |
missense |
probably damaging |
0.99 |
R7955:Ttc39d
|
UTSW |
17 |
80,523,352 (GRCm39) |
missense |
probably benign |
|
R8192:Ttc39d
|
UTSW |
17 |
80,524,007 (GRCm39) |
missense |
probably damaging |
0.99 |
R8400:Ttc39d
|
UTSW |
17 |
80,523,434 (GRCm39) |
missense |
probably benign |
0.15 |
R8682:Ttc39d
|
UTSW |
17 |
80,524,693 (GRCm39) |
missense |
probably benign |
0.01 |
R9019:Ttc39d
|
UTSW |
17 |
80,523,349 (GRCm39) |
missense |
probably benign |
0.03 |
R9453:Ttc39d
|
UTSW |
17 |
80,524,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R9480:Ttc39d
|
UTSW |
17 |
80,524,139 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCATCTGAACCGCATATAAAC -3'
(R):5'- AGGCCAGTATGATAGCCTTGC -3'
Sequencing Primer
(F):5'- ACCGCATATAAACAACATCTTAAGTG -3'
(R):5'- AGCCTTGCTGTATATATAGATGGCC -3'
|
Posted On |
2019-06-07 |