Incidental Mutation 'R0801:Ttc39d'
ID |
76300 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc39d
|
Ensembl Gene |
ENSMUSG00000046196 |
Gene Name |
tetratricopeptide repeat domain 39D |
Synonyms |
4930560E09Rik |
MMRRC Submission |
038981-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.178)
|
Stock # |
R0801 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
80523343-80525365 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 80523644 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 101
(Y101C)
|
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: Y101C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000053781 Gene: ENSMUSG00000046196 AA Change: Y101C
Domain | Start | End | E-Value | Type |
Pfam:DUF3808
|
69 |
522 |
9.6e-149 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000134652
AA Change: Y101C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123158 Gene: ENSMUSG00000046196 AA Change: Y101C
Domain | Start | End | E-Value | Type |
Pfam:DUF3808
|
69 |
522 |
7.2e-150 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.2%
- 10x: 97.6%
- 20x: 94.7%
|
Validation Efficiency |
98% (48/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9030612E09Rik |
A |
G |
10: 43,050,987 (GRCm39) |
K94E |
possibly damaging |
Het |
Aldh16a1 |
A |
T |
7: 44,796,900 (GRCm39) |
C228S |
probably benign |
Het |
Arnt |
G |
T |
3: 95,401,157 (GRCm39) |
R702L |
possibly damaging |
Het |
Ccdc174 |
A |
G |
6: 91,872,313 (GRCm39) |
E314G |
possibly damaging |
Het |
Ccdc81 |
T |
C |
7: 89,536,866 (GRCm39) |
|
probably null |
Het |
Ccdc92 |
T |
C |
5: 124,913,335 (GRCm39) |
T65A |
probably benign |
Het |
Cenpm |
A |
T |
15: 82,118,667 (GRCm39) |
I149N |
probably benign |
Het |
Cfap44 |
C |
T |
16: 44,242,849 (GRCm39) |
S751L |
probably benign |
Het |
Cntrl |
A |
G |
2: 35,065,107 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
A |
G |
6: 4,531,316 (GRCm39) |
T762A |
unknown |
Het |
Crebbp |
T |
C |
16: 3,906,140 (GRCm39) |
K1621E |
probably damaging |
Het |
Cux1 |
T |
A |
5: 136,355,783 (GRCm39) |
I374L |
probably damaging |
Het |
Dgkq |
A |
T |
5: 108,808,586 (GRCm39) |
|
probably null |
Het |
Dis3l |
T |
C |
9: 64,226,436 (GRCm39) |
I365V |
probably benign |
Het |
Dock2 |
T |
C |
11: 34,599,620 (GRCm39) |
R320G |
probably damaging |
Het |
Dst |
A |
G |
1: 34,209,470 (GRCm39) |
N853S |
probably damaging |
Het |
Egf |
T |
C |
3: 129,496,234 (GRCm39) |
|
probably benign |
Het |
Eif2ak2 |
T |
A |
17: 79,173,778 (GRCm39) |
R267* |
probably null |
Het |
Ern2 |
A |
G |
7: 121,780,085 (GRCm39) |
|
probably benign |
Het |
Ero1b |
A |
G |
13: 12,596,568 (GRCm39) |
S123G |
probably benign |
Het |
Fam13a |
G |
T |
6: 58,960,997 (GRCm39) |
N118K |
probably benign |
Het |
Gcn1 |
T |
A |
5: 115,729,065 (GRCm39) |
M792K |
probably benign |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Irf3 |
C |
T |
7: 44,650,058 (GRCm39) |
|
probably benign |
Het |
Map2k5 |
T |
A |
9: 63,265,261 (GRCm39) |
|
probably benign |
Het |
Mcf2l |
T |
A |
8: 13,064,020 (GRCm39) |
|
probably benign |
Het |
Mdga2 |
A |
T |
12: 66,533,507 (GRCm39) |
I878K |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,668,895 (GRCm39) |
S318P |
probably benign |
Het |
Or13a19 |
G |
A |
7: 139,902,831 (GRCm39) |
C73Y |
probably damaging |
Het |
Or5aq1b |
G |
A |
2: 86,902,407 (GRCm39) |
Q24* |
probably null |
Het |
Pklr |
G |
A |
3: 89,052,829 (GRCm39) |
W527* |
probably null |
Het |
Pnpla5 |
T |
C |
15: 83,998,121 (GRCm39) |
M374V |
probably benign |
Het |
Ptprn |
G |
T |
1: 75,228,909 (GRCm39) |
H835Q |
probably damaging |
Het |
R3hdm4 |
A |
G |
10: 79,749,191 (GRCm39) |
|
probably benign |
Het |
Rgs8 |
T |
A |
1: 153,546,557 (GRCm39) |
C19S |
probably damaging |
Het |
Smarca4 |
C |
A |
9: 21,553,850 (GRCm39) |
Q575K |
possibly damaging |
Het |
Srgap1 |
A |
T |
10: 121,643,780 (GRCm39) |
F612L |
probably damaging |
Het |
Svil |
A |
G |
18: 5,099,443 (GRCm39) |
R1256G |
probably benign |
Het |
Tox4 |
T |
C |
14: 52,517,335 (GRCm39) |
S22P |
probably benign |
Het |
Usb1 |
T |
C |
8: 96,060,168 (GRCm39) |
|
probably null |
Het |
Vps13a |
T |
C |
19: 16,664,020 (GRCm39) |
|
probably benign |
Het |
Vps26a |
G |
A |
10: 62,294,857 (GRCm39) |
|
probably benign |
Het |
Zfp638 |
T |
A |
6: 83,949,220 (GRCm39) |
|
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 |
PIT4687001:Ttc39d
|
UTSW |
17 |
80,524,354 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- CACGAGGACAATGACGAGTACCTG -3'
(R):5'- CCGCTTTTGAGGAAACTCAGCAAAC -3'
Sequencing Primer
(F):5'- TGACGAGTACCTGTTAAGTACC -3'
(R):5'- ACTCAGCAAACTGTCGTCCTG -3'
|
Posted On |
2013-10-16 |