Incidental Mutation 'R6316:Tcte1'
ID |
510003 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tcte1
|
Ensembl Gene |
ENSMUSG00000023949 |
Gene Name |
t-complex-associated testis expressed 1 |
Synonyms |
D17Sil1, Tcte-1 |
MMRRC Submission |
044416-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6316 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
45834360-45853605 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 45845786 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 130
(H130R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109175
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113547]
|
AlphaFold |
A6H639 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000113547
AA Change: H130R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000109175 Gene: ENSMUSG00000023949 AA Change: H130R
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 98.0%
|
Validation Efficiency |
97% (38/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,353,118 (GRCm39) |
T775A |
probably benign |
Het |
Adam6a |
A |
T |
12: 113,509,196 (GRCm39) |
N523I |
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,647,187 (GRCm39) |
T3118A |
possibly damaging |
Het |
Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
Asxl3 |
A |
G |
18: 22,655,839 (GRCm39) |
Y1283C |
probably damaging |
Het |
Btbd2 |
T |
A |
10: 80,480,612 (GRCm39) |
I319F |
probably damaging |
Het |
Eno4 |
G |
A |
19: 58,948,723 (GRCm39) |
|
probably null |
Het |
Glis2 |
T |
A |
16: 4,431,700 (GRCm39) |
|
probably benign |
Het |
Grin2b |
A |
T |
6: 135,757,277 (GRCm39) |
C395S |
probably benign |
Het |
H1f8 |
T |
C |
6: 115,925,876 (GRCm39) |
|
probably null |
Het |
Kansl1l |
T |
A |
1: 66,774,744 (GRCm39) |
Y694F |
probably benign |
Het |
Kcnj1 |
A |
T |
9: 32,308,632 (GRCm39) |
E332V |
probably damaging |
Het |
Klhdc7a |
T |
C |
4: 139,694,113 (GRCm39) |
E278G |
probably benign |
Het |
Krt33a |
T |
C |
11: 99,905,027 (GRCm39) |
N160D |
probably damaging |
Het |
Ksr2 |
A |
G |
5: 117,823,567 (GRCm39) |
N448S |
probably damaging |
Het |
Lpar6 |
A |
G |
14: 73,476,774 (GRCm39) |
Y245C |
probably damaging |
Het |
Magel2 |
T |
C |
7: 62,028,467 (GRCm39) |
I457T |
possibly damaging |
Het |
Manf |
A |
G |
9: 106,766,385 (GRCm39) |
L132P |
probably damaging |
Het |
Moxd2 |
T |
C |
6: 40,860,481 (GRCm39) |
D321G |
probably damaging |
Het |
Mtmr12 |
T |
A |
15: 12,236,199 (GRCm39) |
C153S |
probably null |
Het |
Muc16 |
T |
C |
9: 18,553,115 (GRCm39) |
T4393A |
probably benign |
Het |
Notch3 |
T |
C |
17: 32,356,787 (GRCm39) |
|
probably null |
Het |
Or9e1 |
A |
G |
11: 58,732,768 (GRCm39) |
Y276C |
probably damaging |
Het |
Pirb |
T |
A |
7: 3,720,822 (GRCm39) |
K225N |
probably damaging |
Het |
Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
Rilpl2 |
A |
G |
5: 124,615,943 (GRCm39) |
V69A |
probably damaging |
Het |
Smdt1 |
T |
C |
15: 82,232,210 (GRCm39) |
V99A |
probably damaging |
Het |
Smpd1 |
T |
C |
7: 105,204,709 (GRCm39) |
V196A |
probably benign |
Het |
Supt20 |
TCAGCAGCAGCAGCAGCAGCAGCA |
TCAGCAGCAGCAGCAGCAGCAGCAGCA |
3: 54,635,069 (GRCm39) |
|
probably benign |
Het |
Tead1 |
C |
A |
7: 112,491,046 (GRCm39) |
Q296K |
probably damaging |
Het |
Thoc2l |
G |
C |
5: 104,667,595 (GRCm39) |
G706R |
probably damaging |
Het |
Tmem163 |
C |
T |
1: 127,479,102 (GRCm39) |
S139N |
probably benign |
Het |
Tor1aip2 |
G |
T |
1: 155,937,840 (GRCm39) |
D192Y |
probably damaging |
Het |
Trgv2 |
G |
A |
13: 19,520,912 (GRCm39) |
Q61* |
probably null |
Het |
Trib1 |
T |
C |
15: 59,521,264 (GRCm39) |
S85P |
probably benign |
Het |
Trrap |
T |
A |
5: 144,750,336 (GRCm39) |
N1581K |
probably benign |
Het |
Vmn1r181 |
G |
A |
7: 23,684,183 (GRCm39) |
R216Q |
probably benign |
Het |
Xrn2 |
A |
G |
2: 146,883,930 (GRCm39) |
Y563C |
probably 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 |
R4250:Tcte1
|
UTSW |
17 |
45,850,617 (GRCm39) |
missense |
probably benign |
0.04 |
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 |
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'- ATAAAGTTCCCGAGGCCAC -3'
(R):5'- ACTGGTCCACATGAATGCG -3'
Sequencing Primer
(F):5'- ACAGTCCAGGATGCTGAGTTGC -3'
(R):5'- AATGCGGCGCACGTAGTTC -3'
|
Posted On |
2018-04-02 |