Incidental Mutation 'R7955:Ttc39d'
ID |
649786 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc39d
|
Ensembl Gene |
ENSMUSG00000046196 |
Gene Name |
tetratricopeptide repeat domain 39D |
Synonyms |
4930560E09Rik |
MMRRC Submission |
045999-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.178)
|
Stock # |
R7955 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
80523343-80525365 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80523352 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 4
(F4L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123158
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053168]
[ENSMUST00000134652]
|
AlphaFold |
Q0VF76 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053168
AA Change: F4L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000053781 Gene: ENSMUSG00000046196 AA Change: F4L
Domain | Start | End | E-Value | Type |
Pfam:DUF3808
|
69 |
522 |
9.6e-149 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134652
AA Change: F4L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000123158 Gene: ENSMUSG00000046196 AA Change: F4L
Domain | Start | End | E-Value | Type |
Pfam:DUF3808
|
69 |
522 |
7.2e-150 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts10 |
T |
A |
17: 33,764,613 (GRCm39) |
V711D |
probably damaging |
Het |
Adgrg5 |
G |
A |
8: 95,664,325 (GRCm39) |
V312M |
|
Het |
Ankrd53 |
A |
G |
6: 83,744,845 (GRCm39) |
T352A |
probably benign |
Het |
Ano4 |
T |
A |
10: 88,831,088 (GRCm39) |
M512L |
probably null |
Het |
AW551984 |
A |
G |
9: 39,507,960 (GRCm39) |
F392S |
probably damaging |
Het |
Chrna7 |
T |
G |
7: 62,753,541 (GRCm39) |
K326T |
possibly damaging |
Het |
Cldnd2 |
G |
T |
7: 43,091,120 (GRCm39) |
L17F |
possibly damaging |
Het |
Clvs2 |
T |
C |
10: 33,471,808 (GRCm39) |
N166D |
possibly damaging |
Het |
Cox10 |
A |
T |
11: 63,884,750 (GRCm39) |
N218K |
probably benign |
Het |
Crygs |
C |
T |
16: 22,624,082 (GRCm39) |
R175H |
probably damaging |
Het |
Daxx |
T |
A |
17: 34,131,229 (GRCm39) |
Y385* |
probably null |
Het |
Dnmbp |
T |
C |
19: 43,890,762 (GRCm39) |
E335G |
probably benign |
Het |
Erich3 |
C |
T |
3: 154,444,951 (GRCm39) |
Q376* |
probably null |
Het |
Flot2 |
A |
G |
11: 77,949,769 (GRCm39) |
|
probably null |
Het |
Ganc |
A |
G |
2: 120,261,181 (GRCm39) |
T289A |
probably damaging |
Het |
Gm19668 |
G |
A |
10: 77,634,630 (GRCm39) |
T113I |
unknown |
Het |
Gpm6a |
A |
G |
8: 55,511,840 (GRCm39) |
N238S |
probably damaging |
Het |
Hps1 |
T |
C |
19: 42,759,221 (GRCm39) |
T124A |
probably damaging |
Het |
Larp4b |
T |
C |
13: 9,186,816 (GRCm39) |
V48A |
probably benign |
Het |
Magi2 |
A |
G |
5: 20,594,070 (GRCm39) |
H205R |
probably damaging |
Het |
Map2 |
T |
A |
1: 66,452,875 (GRCm39) |
S588R |
probably damaging |
Het |
Mocos |
A |
G |
18: 24,799,216 (GRCm39) |
D150G |
probably damaging |
Het |
Msl2 |
A |
G |
9: 100,979,354 (GRCm39) |
D576G |
possibly damaging |
Het |
Mybpc3 |
A |
G |
2: 90,956,401 (GRCm39) |
|
probably null |
Het |
Myo3b |
A |
T |
2: 69,925,623 (GRCm39) |
Y58F |
probably benign |
Het |
Ndst3 |
T |
G |
3: 123,400,586 (GRCm39) |
K440T |
probably benign |
Het |
Ndst4 |
T |
A |
3: 125,231,831 (GRCm39) |
Y133* |
probably null |
Het |
Nrcam |
G |
A |
12: 44,631,737 (GRCm39) |
V1097M |
probably benign |
Het |
Or6z1 |
A |
G |
7: 6,505,078 (GRCm39) |
I49T |
possibly damaging |
Het |
Rabep1 |
A |
G |
11: 70,808,267 (GRCm39) |
T408A |
probably damaging |
Het |
Rims1 |
A |
T |
1: 22,507,322 (GRCm39) |
D609E |
probably damaging |
Het |
Sh2d4a |
A |
G |
8: 68,781,907 (GRCm39) |
K172E |
probably benign |
Het |
Slc12a9 |
A |
C |
5: 137,323,808 (GRCm39) |
L369R |
probably damaging |
Het |
Slc30a1 |
T |
C |
1: 191,639,395 (GRCm39) |
C93R |
probably damaging |
Het |
Tex35 |
C |
T |
1: 156,927,742 (GRCm39) |
D143N |
probably damaging |
Het |
Tgm3 |
A |
T |
2: 129,880,400 (GRCm39) |
Y402F |
probably benign |
Het |
Tmem17 |
T |
A |
11: 22,468,490 (GRCm39) |
I143K |
possibly damaging |
Het |
Tmprss11f |
A |
C |
5: 86,692,682 (GRCm39) |
S81A |
probably benign |
Het |
Trp53bp1 |
G |
A |
2: 121,066,225 (GRCm39) |
P834S |
possibly damaging |
Het |
Trpm4 |
C |
A |
7: 44,968,683 (GRCm39) |
G417W |
probably damaging |
Het |
Trpm6 |
A |
T |
19: 18,831,654 (GRCm39) |
R1506S |
probably benign |
Het |
Tspan18 |
A |
G |
2: 93,040,305 (GRCm39) |
V150A |
possibly damaging |
Het |
Zdhhc4 |
A |
T |
5: 143,307,619 (GRCm39) |
L134H |
probably damaging |
Het |
Zfp407 |
A |
T |
18: 84,577,416 (GRCm39) |
S1232R |
probably benign |
Het |
Zswim2 |
A |
C |
2: 83,747,227 (GRCm39) |
F353V |
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 |
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 |
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'- CATCTTCTGGGTACATAGATCTCC -3'
(R):5'- AAGGCTCATTGTTGTTGCCAC -3'
Sequencing Primer
(F):5'- TAGAGAATGCCCTAACGCTG -3'
(R):5'- CAGGGATAATTTCATGGGCATCCTC -3'
|
Posted On |
2020-09-15 |