Incidental Mutation 'R4250:Tcte1'
| ID |
321322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcte1
|
| Ensembl Gene |
ENSMUSG00000023949 |
| Gene Name |
t-complex-associated testis expressed 1 |
| Synonyms |
D17Sil1, Tcte-1 |
| MMRRC Submission |
041066-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4250 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
45834360-45853605 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45850617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 298
(I298V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109175
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113547]
[ENSMUST00000180252]
|
| AlphaFold |
A6H639 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113547
AA Change: I298V
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000109175
Gene: ENSMUSG00000023949
AA Change: I298V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
222 |
N/A |
INTRINSIC |
|
Blast:LRR
|
235 |
274 |
7e-14 |
BLAST |
|
LRR
|
304 |
331 |
5.02e-6 |
SMART |
|
LRR
|
332 |
358 |
1.28e-3 |
SMART |
|
LRR
|
359 |
386 |
5.81e-2 |
SMART |
|
LRR
|
387 |
414 |
2.05e-2 |
SMART |
|
LRR
|
415 |
442 |
1.13e-4 |
SMART |
|
Blast:LRR
|
443 |
470 |
3e-8 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180252
|
| SMART Domains |
Protein: ENSMUSP00000136337
Gene: ENSMUSG00000096847
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
27 |
N/A |
INTRINSIC |
|
Pfam:TMEM151
|
40 |
486 |
2e-213 |
PFAM |
|
low complexity region
|
511 |
518 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
556 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl2a1d |
C |
T |
9: 88,613,706 (GRCm39) |
V23I |
probably benign |
Het |
| Birc2 |
A |
T |
9: 7,818,936 (GRCm39) |
L552M |
probably benign |
Het |
| Chst3 |
A |
T |
10: 60,021,890 (GRCm39) |
L319Q |
probably damaging |
Het |
| Col19a1 |
T |
C |
1: 24,564,726 (GRCm39) |
T296A |
unknown |
Het |
| Colgalt2 |
A |
T |
1: 152,365,638 (GRCm39) |
I313L |
probably benign |
Het |
| Dclre1b |
A |
C |
3: 103,711,400 (GRCm39) |
|
probably null |
Het |
| Ezr |
A |
T |
17: 7,022,196 (GRCm39) |
I94N |
probably damaging |
Het |
| Fry |
T |
G |
5: 150,233,825 (GRCm39) |
I99S |
probably damaging |
Het |
| Hba-x |
T |
C |
11: 32,228,000 (GRCm39) |
Y155H |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,893,501 (GRCm39) |
V921D |
probably damaging |
Het |
| Hoxb5 |
T |
C |
11: 96,194,854 (GRCm39) |
S139P |
possibly damaging |
Het |
| Icam5 |
A |
G |
9: 20,949,035 (GRCm39) |
T796A |
probably damaging |
Het |
| Igkv8-26 |
G |
A |
6: 70,170,230 (GRCm39) |
V7I |
probably benign |
Het |
| Ikzf1 |
C |
T |
11: 11,704,166 (GRCm39) |
T194M |
probably damaging |
Het |
| Kif14 |
G |
T |
1: 136,401,126 (GRCm39) |
M492I |
possibly damaging |
Het |
| Lmtk3 |
G |
A |
7: 45,443,486 (GRCm39) |
C723Y |
possibly damaging |
Het |
| Or5b97 |
T |
C |
19: 12,878,368 (GRCm39) |
M259V |
probably benign |
Het |
| Padi2 |
A |
G |
4: 140,633,857 (GRCm39) |
Y38C |
probably damaging |
Het |
| Pilra |
A |
T |
5: 137,821,814 (GRCm39) |
S274T |
probably benign |
Het |
| Pkd1l1 |
C |
T |
11: 8,815,543 (GRCm39) |
R1456K |
possibly damaging |
Het |
| Rreb1 |
T |
C |
13: 38,077,869 (GRCm39) |
V27A |
possibly damaging |
Het |
| Rxfp1 |
A |
G |
3: 79,559,579 (GRCm39) |
V414A |
probably benign |
Het |
| Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
| Sirt1 |
T |
A |
10: 63,172,877 (GRCm39) |
|
probably null |
Het |
| Slc5a6 |
A |
G |
5: 31,195,062 (GRCm39) |
S512P |
probably benign |
Het |
| Snx8 |
A |
G |
5: 140,341,800 (GRCm39) |
L121P |
probably damaging |
Het |
| Sp7 |
T |
A |
15: 102,267,327 (GRCm39) |
T160S |
possibly damaging |
Het |
| Trmt9b |
C |
A |
8: 36,979,366 (GRCm39) |
T323K |
probably benign |
Het |
| Ttc4 |
G |
A |
4: 106,522,880 (GRCm39) |
T346I |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,544,056 (GRCm39) |
T32977A |
probably damaging |
Het |
| Yeats2 |
A |
G |
16: 19,975,685 (GRCm39) |
K114E |
possibly damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,342,020 (GRCm39) |
V133A |
possibly damaging |
Het |
|
| Other mutations in Tcte1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Tcte1
|
APN |
17 |
45,845,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00945:Tcte1
|
APN |
17 |
45,852,115 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01120:Tcte1
|
APN |
17 |
45,850,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01132:Tcte1
|
APN |
17 |
45,850,788 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01884:Tcte1
|
APN |
17 |
45,850,735 (GRCm39) |
splice site |
probably null |
|
|
IGL02418:Tcte1
|
APN |
17 |
45,852,128 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL02731:Tcte1
|
APN |
17 |
45,850,812 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03130:Tcte1
|
APN |
17 |
45,844,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0358:Tcte1
|
UTSW |
17 |
45,846,211 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1519:Tcte1
|
UTSW |
17 |
45,846,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2013:Tcte1
|
UTSW |
17 |
45,852,237 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2014:Tcte1
|
UTSW |
17 |
45,852,237 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3744:Tcte1
|
UTSW |
17 |
45,850,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4976:Tcte1
|
UTSW |
17 |
45,845,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5398:Tcte1
|
UTSW |
17 |
45,850,752 (GRCm39) |
nonsense |
probably null |
|
|
R6169:Tcte1
|
UTSW |
17 |
45,845,996 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6251:Tcte1
|
UTSW |
17 |
45,846,085 (GRCm39) |
missense |
probably benign |
|
|
R6279:Tcte1
|
UTSW |
17 |
45,844,215 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6300:Tcte1
|
UTSW |
17 |
45,844,215 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6316:Tcte1
|
UTSW |
17 |
45,845,786 (GRCm39) |
missense |
probably benign |
|
|
R6417:Tcte1
|
UTSW |
17 |
45,846,056 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6892:Tcte1
|
UTSW |
17 |
45,844,083 (GRCm39) |
missense |
probably benign |
|
|
R7047:Tcte1
|
UTSW |
17 |
45,844,294 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7645:Tcte1
|
UTSW |
17 |
45,845,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8125:Tcte1
|
UTSW |
17 |
45,850,618 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9710:Tcte1
|
UTSW |
17 |
45,850,798 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1176:Tcte1
|
UTSW |
17 |
45,845,997 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Tcte1
|
UTSW |
17 |
45,845,938 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCATCATCCAGTGAACCC -3'
(R):5'- TCGATACAGTTGAGGCGGAG -3'
Sequencing Primer
(F):5'- GTGAACCCACCTCCTACCTGAG -3'
(R):5'- TACAGTTGAGGCGGAGGTTGAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation