Incidental Mutation 'R6417:Tcte1'
| ID |
518129 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcte1
|
| Ensembl Gene |
ENSMUSG00000023949 |
| Gene Name |
t-complex-associated testis expressed 1 |
| Synonyms |
D17Sil1, Tcte-1 |
| MMRRC Submission |
044559-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6417 (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 45846056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 220
(E220G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109175
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113547]
|
| AlphaFold |
A6H639 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113547
AA Change: E220G
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109175
Gene: ENSMUSG00000023949
AA Change: E220G
| 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 |
0.1023 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 92.8%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
G |
7: 119,996,351 (GRCm39) |
K1426E |
possibly damaging |
Het |
| Abra |
C |
T |
15: 41,729,452 (GRCm39) |
R316H |
probably benign |
Het |
| Adam7 |
T |
A |
14: 68,742,070 (GRCm39) |
T729S |
probably benign |
Het |
| Arhgef17 |
A |
G |
7: 100,579,269 (GRCm39) |
S560P |
probably damaging |
Het |
| Asb13 |
G |
A |
13: 3,693,574 (GRCm39) |
V111I |
probably damaging |
Het |
| Eif2ak2 |
A |
C |
17: 79,164,048 (GRCm39) |
L439R |
probably damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,696,549 (GRCm39) |
R2446C |
probably benign |
Het |
| Map3k10 |
A |
G |
7: 27,362,709 (GRCm39) |
F459S |
probably damaging |
Het |
| Med1 |
T |
C |
11: 98,048,054 (GRCm39) |
D914G |
probably damaging |
Het |
| Or4d10 |
T |
G |
19: 12,051,324 (GRCm39) |
K224T |
probably benign |
Het |
| Or5b24 |
A |
C |
19: 12,912,584 (GRCm39) |
T161P |
probably damaging |
Het |
| Or8b39 |
T |
A |
9: 37,996,890 (GRCm39) |
S253T |
probably benign |
Het |
| Or8b41 |
T |
G |
9: 38,054,611 (GRCm39) |
L55R |
probably damaging |
Het |
| Or8k38 |
A |
T |
2: 86,488,510 (GRCm39) |
C97* |
probably null |
Het |
| Pkd1l2 |
C |
T |
8: 117,740,638 (GRCm39) |
C2153Y |
probably damaging |
Het |
| Plk5 |
T |
C |
10: 80,199,906 (GRCm39) |
V471A |
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,103,542 (GRCm39) |
I1906T |
probably damaging |
Het |
| Slc16a12 |
T |
C |
19: 34,650,097 (GRCm39) |
|
probably null |
Het |
| Slc25a23 |
T |
C |
17: 57,359,780 (GRCm39) |
I324V |
probably damaging |
Het |
| Sord |
A |
T |
2: 122,094,602 (GRCm39) |
K330M |
possibly damaging |
Het |
| Srp54b |
T |
A |
12: 55,296,855 (GRCm39) |
F184L |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tfrc |
C |
T |
16: 32,449,057 (GRCm39) |
T732I |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,770,297 (GRCm39) |
T696A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,542,619 (GRCm39) |
Y33456H |
possibly damaging |
Het |
| Unc45a |
C |
G |
7: 79,989,400 (GRCm39) |
E23Q |
probably benign |
Het |
| Urb2 |
C |
T |
8: 124,773,938 (GRCm39) |
R1490W |
probably damaging |
Het |
| Wdr64 |
A |
T |
1: 175,553,956 (GRCm39) |
D162V |
probably damaging |
Het |
| Zfp959 |
G |
A |
17: 56,205,094 (GRCm39) |
G377D |
probably damaging |
Het |
| Zswim3 |
G |
A |
2: 164,662,653 (GRCm39) |
V378M |
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 |
|
R6316:Tcte1
|
UTSW |
17 |
45,845,786 (GRCm39) |
missense |
probably benign |
|
|
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'- AGAATTACTGGCACCGCTG -3'
(R):5'- CAAGCTTTGATGGTGGCTGC -3'
Sequencing Primer
(F):5'- CTGGAGAACCTGCTGAAGCTATTC -3'
(R):5'- TGCCAGAGAGTAGCAGTCTC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation