Incidental Mutation 'IGL02118:Ttc39b'
ID |
280476 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ttc39b
|
Ensembl Gene |
ENSMUSG00000038172 |
Gene Name |
tetratricopeptide repeat domain 39B |
Synonyms |
1810054D07Rik, 9130422G05Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.113)
|
Stock # |
IGL02118
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
83138537-83242488 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 83216186 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 19
(D19V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099887
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030205]
[ENSMUST00000048274]
[ENSMUST00000102823]
|
AlphaFold |
Q8BYY4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030205
AA Change: D19V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000030205 Gene: ENSMUSG00000038172 AA Change: D19V
Domain | Start | End | E-Value | Type |
Pfam:DUF3808
|
75 |
173 |
1.9e-27 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048274
AA Change: D19V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000040590 Gene: ENSMUSG00000038172 AA Change: D19V
Domain | Start | End | E-Value | Type |
Pfam:DUF3808
|
75 |
478 |
2.2e-147 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102823
AA Change: D19V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099887 Gene: ENSMUSG00000038172 AA Change: D19V
Domain | Start | End | E-Value | Type |
Pfam:DUF3808
|
75 |
533 |
3.6e-167 |
PFAM |
Pfam:TPR_8
|
329 |
360 |
4.5e-3 |
PFAM |
Pfam:TPR_6
|
563 |
594 |
6.9e-5 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox3 |
T |
C |
5: 35,758,865 (GRCm39) |
Y359H |
possibly damaging |
Het |
Actn2 |
A |
G |
13: 12,291,433 (GRCm39) |
|
probably benign |
Het |
Actr8 |
T |
C |
14: 29,704,728 (GRCm39) |
|
probably null |
Het |
Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
Aldob |
T |
A |
4: 49,538,790 (GRCm39) |
K243* |
probably null |
Het |
Arfgap1 |
T |
C |
2: 180,622,237 (GRCm39) |
F274S |
possibly damaging |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Cask |
T |
C |
X: 13,425,634 (GRCm39) |
I471V |
probably damaging |
Het |
Cdc42ep4 |
C |
T |
11: 113,619,942 (GRCm39) |
G150S |
probably benign |
Het |
Cpne1 |
T |
G |
2: 155,919,563 (GRCm39) |
D278A |
possibly damaging |
Het |
Gcn1 |
A |
G |
5: 115,748,938 (GRCm39) |
E1856G |
probably damaging |
Het |
Gm8362 |
A |
T |
14: 18,149,595 (GRCm39) |
V159E |
probably damaging |
Het |
Golga5 |
A |
G |
12: 102,462,011 (GRCm39) |
I700V |
possibly damaging |
Het |
Ifi206 |
T |
C |
1: 173,309,334 (GRCm39) |
T221A |
probably benign |
Het |
Ighv2-6-8 |
T |
C |
12: 113,760,037 (GRCm39) |
K24R |
possibly damaging |
Het |
Morc1 |
T |
C |
16: 48,407,467 (GRCm39) |
L661P |
probably benign |
Het |
Per2 |
G |
A |
1: 91,352,031 (GRCm39) |
T825I |
probably damaging |
Het |
Plscr1l1 |
A |
T |
9: 92,233,011 (GRCm39) |
K45* |
probably null |
Het |
Pramel20 |
A |
T |
4: 143,297,726 (GRCm39) |
T49S |
probably benign |
Het |
Prkar2b |
A |
G |
12: 32,025,963 (GRCm39) |
V19A |
probably damaging |
Het |
Psmb8 |
T |
A |
17: 34,420,198 (GRCm39) |
D263E |
probably damaging |
Het |
Pum2 |
T |
C |
12: 8,779,117 (GRCm39) |
I563T |
probably benign |
Het |
Retreg1 |
T |
G |
15: 25,966,709 (GRCm39) |
|
probably null |
Het |
Rfx7 |
A |
G |
9: 72,524,486 (GRCm39) |
T559A |
probably benign |
Het |
Rnf31 |
T |
G |
14: 55,836,569 (GRCm39) |
I801S |
probably damaging |
Het |
Rom1 |
G |
T |
19: 8,906,386 (GRCm39) |
T51N |
possibly damaging |
Het |
Sema6b |
G |
T |
17: 56,439,821 (GRCm39) |
P7T |
probably benign |
Het |
Stpg1 |
A |
G |
4: 135,235,375 (GRCm39) |
|
probably benign |
Het |
Sugct |
A |
T |
13: 17,627,105 (GRCm39) |
Y249* |
probably null |
Het |
Tbc1d21 |
C |
T |
9: 58,267,746 (GRCm39) |
V317M |
probably benign |
Het |
Tcea2 |
A |
G |
2: 181,327,628 (GRCm39) |
I125V |
probably benign |
Het |
Tti2 |
T |
A |
8: 31,645,537 (GRCm39) |
|
probably null |
Het |
Usp32 |
A |
T |
11: 84,923,003 (GRCm39) |
Y142* |
probably null |
Het |
Vill |
A |
G |
9: 118,889,466 (GRCm39) |
Y134C |
probably benign |
Het |
Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
Zfp398 |
A |
G |
6: 47,835,879 (GRCm39) |
D14G |
probably damaging |
Het |
Zfp598 |
T |
C |
17: 24,896,591 (GRCm39) |
Y223H |
probably damaging |
Het |
Znhit6 |
G |
T |
3: 145,283,859 (GRCm39) |
C43F |
probably damaging |
Het |
|
Other mutations in Ttc39b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00553:Ttc39b
|
APN |
4 |
83,162,276 (GRCm39) |
splice site |
probably benign |
|
IGL02860:Ttc39b
|
APN |
4 |
83,181,983 (GRCm39) |
missense |
probably benign |
0.14 |
IGL03008:Ttc39b
|
APN |
4 |
83,165,932 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03136:Ttc39b
|
APN |
4 |
83,155,517 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03310:Ttc39b
|
APN |
4 |
83,165,896 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03409:Ttc39b
|
APN |
4 |
83,179,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R0536:Ttc39b
|
UTSW |
4 |
83,145,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R0654:Ttc39b
|
UTSW |
4 |
83,159,938 (GRCm39) |
missense |
probably benign |
0.03 |
R1690:Ttc39b
|
UTSW |
4 |
83,145,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R1758:Ttc39b
|
UTSW |
4 |
83,155,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R1933:Ttc39b
|
UTSW |
4 |
83,150,957 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2221:Ttc39b
|
UTSW |
4 |
83,150,999 (GRCm39) |
missense |
probably benign |
0.00 |
R2223:Ttc39b
|
UTSW |
4 |
83,150,999 (GRCm39) |
missense |
probably benign |
0.00 |
R4182:Ttc39b
|
UTSW |
4 |
83,155,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R4746:Ttc39b
|
UTSW |
4 |
83,162,340 (GRCm39) |
missense |
probably benign |
0.01 |
R4984:Ttc39b
|
UTSW |
4 |
83,160,446 (GRCm39) |
missense |
probably benign |
0.05 |
R5328:Ttc39b
|
UTSW |
4 |
83,180,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R5360:Ttc39b
|
UTSW |
4 |
83,180,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R5429:Ttc39b
|
UTSW |
4 |
83,162,190 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5646:Ttc39b
|
UTSW |
4 |
83,162,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R6353:Ttc39b
|
UTSW |
4 |
83,148,730 (GRCm39) |
missense |
probably benign |
0.07 |
R6681:Ttc39b
|
UTSW |
4 |
83,158,285 (GRCm39) |
intron |
probably benign |
|
R6873:Ttc39b
|
UTSW |
4 |
83,164,513 (GRCm39) |
missense |
probably damaging |
1.00 |
R7274:Ttc39b
|
UTSW |
4 |
83,180,088 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7414:Ttc39b
|
UTSW |
4 |
83,160,459 (GRCm39) |
missense |
probably damaging |
0.99 |
R7536:Ttc39b
|
UTSW |
4 |
83,158,215 (GRCm39) |
nonsense |
probably null |
|
R8095:Ttc39b
|
UTSW |
4 |
83,164,557 (GRCm39) |
missense |
probably benign |
0.00 |
R8728:Ttc39b
|
UTSW |
4 |
83,171,247 (GRCm39) |
missense |
probably damaging |
0.99 |
R9123:Ttc39b
|
UTSW |
4 |
83,189,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R9194:Ttc39b
|
UTSW |
4 |
83,181,977 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9303:Ttc39b
|
UTSW |
4 |
83,151,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R9305:Ttc39b
|
UTSW |
4 |
83,151,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R9379:Ttc39b
|
UTSW |
4 |
83,189,376 (GRCm39) |
missense |
probably benign |
0.28 |
R9473:Ttc39b
|
UTSW |
4 |
83,181,977 (GRCm39) |
missense |
possibly damaging |
0.67 |
X0064:Ttc39b
|
UTSW |
4 |
83,179,176 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2015-04-16 |