Incidental Mutation 'IGL03310:Ttc39b'
| ID |
416511 |
| 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: 0.094)
|
| Stock # |
IGL03310
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
83138537-83242488 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83165896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 230
(Y230F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099887
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048274]
[ENSMUST00000102823]
|
| AlphaFold |
Q8BYY4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048274
AA Change: Y230F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000040590
Gene: ENSMUSG00000038172
AA Change: Y230F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3808
|
75 |
478 |
2.2e-147 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102823
AA Change: Y230F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000099887
Gene: ENSMUSG00000038172
AA Change: Y230F
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146519
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam10 |
C |
T |
9: 70,685,371 (GRCm39) |
R749C |
probably damaging |
Het |
| Atp9a |
A |
G |
2: 168,481,879 (GRCm39) |
F872L |
probably damaging |
Het |
| Cacna1e |
A |
C |
1: 154,317,997 (GRCm39) |
Y1462D |
probably damaging |
Het |
| Ccna1 |
T |
C |
3: 54,958,041 (GRCm39) |
T7A |
probably benign |
Het |
| Ces1d |
A |
G |
8: 93,901,816 (GRCm39) |
|
probably benign |
Het |
| Cmtm8 |
A |
T |
9: 114,619,794 (GRCm39) |
V117D |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 96,462,308 (GRCm39) |
|
probably benign |
Het |
| Col24a1 |
A |
T |
3: 145,019,744 (GRCm39) |
|
probably benign |
Het |
| Crispld1 |
T |
C |
1: 17,815,701 (GRCm39) |
|
probably benign |
Het |
| Dnaja2 |
A |
T |
8: 86,275,534 (GRCm39) |
N140K |
probably benign |
Het |
| Fktn |
A |
T |
4: 53,720,120 (GRCm39) |
K6* |
probably null |
Het |
| Fryl |
C |
A |
5: 73,293,659 (GRCm39) |
|
probably benign |
Het |
| Gm5117 |
T |
A |
8: 32,228,836 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy2c |
A |
C |
6: 136,728,044 (GRCm39) |
S319R |
probably benign |
Het |
| Helz2 |
G |
A |
2: 180,873,597 (GRCm39) |
A2299V |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,019,411 (GRCm39) |
S2061P |
probably damaging |
Het |
| Irx4 |
A |
G |
13: 73,415,850 (GRCm39) |
N213S |
possibly damaging |
Het |
| Mark3 |
A |
G |
12: 111,614,104 (GRCm39) |
T649A |
probably benign |
Het |
| Nav3 |
C |
T |
10: 109,660,433 (GRCm39) |
|
probably null |
Het |
| Npr1 |
C |
T |
3: 90,363,298 (GRCm39) |
E861K |
probably benign |
Het |
| Or52a5 |
A |
C |
7: 103,426,634 (GRCm39) |
V306G |
probably benign |
Het |
| Or5a3 |
T |
C |
19: 12,400,291 (GRCm39) |
V206A |
probably benign |
Het |
| Pcdhb10 |
C |
T |
18: 37,545,374 (GRCm39) |
T150I |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,684,151 (GRCm39) |
C2009R |
possibly damaging |
Het |
| Trgv7 |
A |
G |
13: 19,362,664 (GRCm39) |
|
probably benign |
Het |
| Ttc16 |
T |
C |
2: 32,652,409 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,694,898 (GRCm39) |
I1678N |
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 |
|
|
IGL02118:Ttc39b
|
APN |
4 |
83,216,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation