Incidental Mutation 'R4641:Ttc38'
| ID |
351660 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc38
|
| Ensembl Gene |
ENSMUSG00000035944 |
| Gene Name |
tetratricopeptide repeat domain 38 |
| Synonyms |
|
| MMRRC Submission |
041903-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R4641 (G1)
|
| Quality Score |
218 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
85716545-85743023 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85728659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 204
(S204P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114504
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124011]
[ENSMUST00000146088]
|
| AlphaFold |
A3KMP2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124011
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133158
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146088
AA Change: S204P
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114504
Gene: ENSMUSG00000035944
AA Change: S204P
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ld8a_
|
105 |
272 |
1e-7 |
SMART |
|
low complexity region
|
342 |
354 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
A |
10: 79,841,615 (GRCm39) |
|
probably null |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Dsg3 |
T |
A |
18: 20,653,615 (GRCm39) |
F54I |
probably benign |
Het |
| Ehbp1 |
G |
A |
11: 22,045,892 (GRCm39) |
S619L |
probably benign |
Het |
| Eif1ad3 |
A |
G |
12: 87,843,446 (GRCm39) |
Y31C |
probably damaging |
Het |
| Eif1ad5 |
A |
G |
12: 87,946,852 (GRCm39) |
D98G |
probably benign |
Het |
| Erlec1 |
G |
A |
11: 30,898,442 (GRCm39) |
Q10* |
probably null |
Het |
| Fbxw14 |
A |
G |
9: 109,107,750 (GRCm39) |
|
probably null |
Het |
| Fhod1 |
C |
T |
8: 106,056,224 (GRCm39) |
R1163H |
probably damaging |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gm4846 |
G |
A |
1: 166,311,462 (GRCm39) |
P466S |
probably damaging |
Het |
| Ift122 |
A |
T |
6: 115,865,726 (GRCm39) |
K339* |
probably null |
Het |
| Il6st |
T |
C |
13: 112,625,064 (GRCm39) |
S227P |
probably damaging |
Het |
| Letmd1 |
A |
G |
15: 100,375,708 (GRCm39) |
Y198C |
probably damaging |
Het |
| Map3k4 |
A |
T |
17: 12,482,932 (GRCm39) |
L595Q |
probably damaging |
Het |
| Mdc1 |
C |
G |
17: 36,168,361 (GRCm39) |
R1656G |
probably benign |
Het |
| Megf11 |
C |
T |
9: 64,597,407 (GRCm39) |
S662L |
possibly damaging |
Het |
| Mrps25 |
T |
C |
6: 92,160,881 (GRCm39) |
E25G |
probably benign |
Het |
| Myh2 |
G |
T |
11: 67,085,520 (GRCm39) |
G1815C |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,393,867 (GRCm39) |
D2353G |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| P2rx5 |
A |
T |
11: 73,058,390 (GRCm39) |
H275L |
possibly damaging |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| Rnf123 |
T |
C |
9: 107,935,786 (GRCm39) |
D920G |
probably damaging |
Het |
| Slc44a2 |
A |
G |
9: 21,258,178 (GRCm39) |
Y474C |
probably damaging |
Het |
| Slc9a4 |
T |
A |
1: 40,646,285 (GRCm39) |
F439I |
probably damaging |
Het |
| Snap91 |
A |
G |
9: 86,761,528 (GRCm39) |
V26A |
probably damaging |
Het |
| Spata31d1c |
C |
A |
13: 65,182,862 (GRCm39) |
Q135K |
probably benign |
Het |
| Stard8 |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
X: 98,110,114 (GRCm39) |
|
probably benign |
Het |
| Tlk2 |
T |
C |
11: 105,166,809 (GRCm39) |
I669T |
probably benign |
Het |
| Tmem273 |
A |
G |
14: 32,528,839 (GRCm39) |
D68G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,617,155 (GRCm39) |
Y16403F |
probably damaging |
Het |
| Ttyh2 |
G |
T |
11: 114,592,609 (GRCm39) |
W213L |
probably damaging |
Het |
| Ugt2a2 |
A |
T |
5: 87,610,755 (GRCm39) |
D360E |
probably damaging |
Het |
| Vwa5b2 |
A |
T |
16: 20,423,393 (GRCm39) |
H1102L |
probably damaging |
Het |
| Zbtb41 |
A |
T |
1: 139,370,557 (GRCm39) |
T665S |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,807,828 (GRCm39) |
I1739V |
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 |
|
IGL03221:Ttc38
|
APN |
15 |
85,718,742 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCCTTAGCAATGTGCCGTG -3'
(R):5'- ATCTGTAAAGCCCACCGAGC -3'
Sequencing Primer
(F):5'- TGGTGGGCAAACACATCC -3'
(R):5'- CAAGCCTTGGGGGAAACTC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation