Incidental Mutation 'IGL03221:Ttc38'
| ID |
413644 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ttc38
|
| Ensembl Gene |
ENSMUSG00000035944 |
| Gene Name |
tetratricopeptide repeat domain 38 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
IGL03221
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
85716545-85743023 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 85718742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 51
(S51T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114504
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124011]
[ENSMUST00000146088]
|
| AlphaFold |
A3KMP2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124011
AA Change: S51T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133158
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146088
AA Change: S51T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000114504
Gene: ENSMUSG00000035944
AA Change: S51T
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ld8a_
|
105 |
272 |
1e-7 |
SMART |
|
low complexity region
|
342 |
354 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2b2 |
C |
T |
6: 113,737,820 (GRCm39) |
|
probably benign |
Het |
| BC051665 |
T |
A |
13: 60,932,242 (GRCm39) |
K116* |
probably null |
Het |
| Birc6 |
A |
T |
17: 74,934,002 (GRCm39) |
T2538S |
probably benign |
Het |
| Btn2a2 |
A |
G |
13: 23,662,619 (GRCm39) |
S435P |
probably damaging |
Het |
| Efhb |
A |
G |
17: 53,706,014 (GRCm39) |
L841P |
probably damaging |
Het |
| Etv4 |
C |
T |
11: 101,664,988 (GRCm39) |
R155K |
probably damaging |
Het |
| Fnbp4 |
T |
A |
2: 90,608,062 (GRCm39) |
M928K |
possibly damaging |
Het |
| Grin2c |
A |
G |
11: 115,144,870 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
A |
T |
10: 119,822,299 (GRCm39) |
M342L |
probably benign |
Het |
| H60c |
T |
A |
10: 3,209,799 (GRCm39) |
K163* |
probably null |
Het |
| Hycc2 |
C |
A |
1: 58,579,345 (GRCm39) |
V231L |
probably benign |
Het |
| Lilrb4b |
A |
G |
10: 51,357,524 (GRCm39) |
|
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mast4 |
A |
G |
13: 102,890,764 (GRCm39) |
V838A |
possibly damaging |
Het |
| Mypn |
C |
A |
10: 62,966,902 (GRCm39) |
D925Y |
probably damaging |
Het |
| Nol6 |
T |
C |
4: 41,124,166 (GRCm39) |
D27G |
probably benign |
Het |
| Or4c105 |
T |
C |
2: 88,647,781 (GRCm39) |
S89P |
possibly damaging |
Het |
| Or5b97 |
G |
T |
19: 12,878,905 (GRCm39) |
P80T |
probably damaging |
Het |
| Or8b51 |
A |
T |
9: 38,569,661 (GRCm39) |
V9E |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,718,133 (GRCm39) |
|
probably null |
Het |
| Pik3c3 |
G |
T |
18: 30,435,984 (GRCm39) |
M394I |
probably benign |
Het |
| Rfx7 |
C |
T |
9: 72,526,088 (GRCm39) |
R1093C |
probably damaging |
Het |
| Scin |
A |
G |
12: 40,126,973 (GRCm39) |
V458A |
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,548,591 (GRCm39) |
V39A |
probably benign |
Het |
| Slc6a4 |
A |
G |
11: 76,917,931 (GRCm39) |
M558V |
probably benign |
Het |
| Smpx |
T |
C |
X: 156,503,994 (GRCm39) |
V65A |
probably damaging |
Het |
| Tmem200a |
A |
T |
10: 25,869,922 (GRCm39) |
F116I |
possibly damaging |
Het |
| Tnfrsf19 |
A |
T |
14: 61,262,227 (GRCm39) |
V12E |
probably benign |
Het |
| Trpc1 |
C |
T |
9: 95,588,953 (GRCm39) |
R757H |
probably damaging |
Het |
| Wee1 |
G |
A |
7: 109,726,024 (GRCm39) |
C378Y |
probably damaging |
Het |
|
| Other mutations in Ttc38 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00899:Ttc38
|
APN |
15 |
85,728,663 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01596:Ttc38
|
APN |
15 |
85,720,274 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
hairy
|
UTSW |
15 |
85,735,802 (GRCm39) |
splice site |
probably null |
|
|
Stubble
|
UTSW |
15 |
85,728,716 (GRCm39) |
nonsense |
probably null |
|
|
PIT4431001:Ttc38
|
UTSW |
15 |
85,720,328 (GRCm39) |
missense |
probably benign |
|
|
R0040:Ttc38
|
UTSW |
15 |
85,725,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0040:Ttc38
|
UTSW |
15 |
85,725,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0081:Ttc38
|
UTSW |
15 |
85,740,673 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0143:Ttc38
|
UTSW |
15 |
85,737,920 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0764:Ttc38
|
UTSW |
15 |
85,730,604 (GRCm39) |
splice site |
probably benign |
|
|
R1745:Ttc38
|
UTSW |
15 |
85,717,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1837:Ttc38
|
UTSW |
15 |
85,735,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2069:Ttc38
|
UTSW |
15 |
85,722,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2086:Ttc38
|
UTSW |
15 |
85,722,928 (GRCm39) |
missense |
probably benign |
|
|
R2151:Ttc38
|
UTSW |
15 |
85,735,802 (GRCm39) |
splice site |
probably null |
|
|
R2228:Ttc38
|
UTSW |
15 |
85,728,704 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4641:Ttc38
|
UTSW |
15 |
85,728,659 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4705:Ttc38
|
UTSW |
15 |
85,737,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4721:Ttc38
|
UTSW |
15 |
85,722,947 (GRCm39) |
missense |
probably benign |
|
|
R5037:Ttc38
|
UTSW |
15 |
85,728,741 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6208:Ttc38
|
UTSW |
15 |
85,725,698 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6454:Ttc38
|
UTSW |
15 |
85,723,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7326:Ttc38
|
UTSW |
15 |
85,737,062 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7809:Ttc38
|
UTSW |
15 |
85,722,939 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8195:Ttc38
|
UTSW |
15 |
85,728,716 (GRCm39) |
nonsense |
probably null |
|
|
R9042:Ttc38
|
UTSW |
15 |
85,720,310 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9631:Ttc38
|
UTSW |
15 |
85,728,659 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Posted On |
2016-08-02 |
Incidental Mutation