Incidental Mutation 'IGL00835:Ttc39d'
ID |
14635 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL00835
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
80523343-80525365 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 80523955 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Glycine
at position 205
(C205G)
|
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: C205G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000053781 Gene: ENSMUSG00000046196 AA Change: C205G
Domain | Start | End | E-Value | Type |
Pfam:DUF3808
|
69 |
522 |
9.6e-149 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000134652
AA Change: C205G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000123158 Gene: ENSMUSG00000046196 AA Change: C205G
Domain | Start | End | E-Value | Type |
Pfam:DUF3808
|
69 |
522 |
7.2e-150 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,341,892 (GRCm39) |
D1023G |
probably damaging |
Het |
Agbl3 |
A |
G |
6: 34,776,667 (GRCm39) |
D391G |
probably damaging |
Het |
Aggf1 |
C |
A |
13: 95,498,985 (GRCm39) |
V450F |
probably damaging |
Het |
Alms1 |
A |
G |
6: 85,599,116 (GRCm39) |
Y1314C |
probably damaging |
Het |
Arfgef3 |
A |
G |
10: 18,537,106 (GRCm39) |
F192L |
probably benign |
Het |
Arnt |
A |
G |
3: 95,397,651 (GRCm39) |
D541G |
probably damaging |
Het |
AU040320 |
A |
G |
4: 126,650,864 (GRCm39) |
|
probably null |
Het |
Cep290 |
A |
T |
10: 100,399,242 (GRCm39) |
R2255* |
probably null |
Het |
Creb3l4 |
T |
A |
3: 90,149,294 (GRCm39) |
H138L |
possibly damaging |
Het |
Crispld2 |
G |
A |
8: 120,737,387 (GRCm39) |
R46H |
probably damaging |
Het |
Crlf3 |
T |
C |
11: 79,938,501 (GRCm39) |
T379A |
probably benign |
Het |
Ctsb |
T |
A |
14: 63,373,099 (GRCm39) |
D85E |
probably damaging |
Het |
Etv2 |
A |
T |
7: 30,333,092 (GRCm39) |
D325E |
probably benign |
Het |
Fggy |
T |
A |
4: 95,725,865 (GRCm39) |
I335N |
possibly damaging |
Het |
Fkbp1b |
C |
T |
12: 4,883,726 (GRCm39) |
G90S |
probably damaging |
Het |
Glra3 |
A |
G |
8: 56,394,012 (GRCm39) |
|
probably benign |
Het |
Gpatch8 |
C |
A |
11: 102,369,375 (GRCm39) |
A1388S |
probably damaging |
Het |
Grin2b |
T |
A |
6: 135,710,568 (GRCm39) |
S993C |
probably damaging |
Het |
Gsg1 |
A |
T |
6: 135,221,090 (GRCm39) |
M103K |
possibly damaging |
Het |
Il12rb2 |
A |
T |
6: 67,337,551 (GRCm39) |
V110D |
probably damaging |
Het |
Kat8 |
A |
G |
7: 127,519,676 (GRCm39) |
D174G |
probably damaging |
Het |
Krt82 |
A |
T |
15: 101,451,813 (GRCm39) |
I334N |
probably damaging |
Het |
Lrrfip1 |
C |
T |
1: 91,043,140 (GRCm39) |
T515I |
possibly damaging |
Het |
Lrrtm2 |
T |
A |
18: 35,347,292 (GRCm39) |
L3F |
probably benign |
Het |
Man1c1 |
T |
A |
4: 134,291,843 (GRCm39) |
Q575L |
probably damaging |
Het |
Panx1 |
A |
G |
9: 14,919,140 (GRCm39) |
S240P |
probably damaging |
Het |
Phldb2 |
G |
A |
16: 45,571,819 (GRCm39) |
T1191I |
probably damaging |
Het |
Plb1 |
G |
A |
5: 32,521,516 (GRCm39) |
E1456K |
unknown |
Het |
Prtn3 |
A |
G |
10: 79,716,886 (GRCm39) |
T84A |
probably benign |
Het |
R3hdm1 |
T |
C |
1: 128,163,369 (GRCm39) |
|
probably benign |
Het |
Sirpa |
G |
A |
2: 129,451,103 (GRCm39) |
C121Y |
probably damaging |
Het |
Slc9a3 |
C |
A |
13: 74,308,421 (GRCm39) |
H475N |
probably benign |
Het |
Smgc |
A |
T |
15: 91,728,623 (GRCm39) |
D121V |
probably damaging |
Het |
Spata16 |
A |
T |
3: 26,978,411 (GRCm39) |
E459V |
probably damaging |
Het |
Sult2a4 |
T |
A |
7: 13,643,714 (GRCm39) |
E284D |
probably benign |
Het |
Tbc1d32 |
A |
G |
10: 55,965,942 (GRCm39) |
|
probably benign |
Het |
Thsd7a |
A |
C |
6: 12,554,933 (GRCm39) |
V317G |
probably damaging |
Het |
Trh |
T |
C |
6: 92,219,770 (GRCm39) |
E182G |
probably benign |
Het |
Tsc1 |
A |
G |
2: 28,562,478 (GRCm39) |
D368G |
possibly damaging |
Het |
Unc79 |
T |
G |
12: 103,108,149 (GRCm39) |
|
probably benign |
Het |
Vps13d |
A |
T |
4: 144,887,222 (GRCm39) |
D724E |
probably damaging |
Het |
Zc3h14 |
T |
A |
12: 98,713,783 (GRCm39) |
|
probably null |
Het |
Zfp507 |
G |
T |
7: 35,475,463 (GRCm39) |
H917N |
probably damaging |
Het |
|
Other mutations in Ttc39d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
|
Posted On |
2012-12-06 |