Incidental Mutation 'R4106:Tcerg1l'
ID |
321391 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tcerg1l
|
Ensembl Gene |
ENSMUSG00000091002 |
Gene Name |
transcription elongation regulator 1-like |
Synonyms |
5730476P14Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4106 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
137810703-137999459 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 137861673 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 352
(V352A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124476
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160436]
|
AlphaFold |
Q3B807 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160436
AA Change: V352A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124476 Gene: ENSMUSG00000091002 AA Change: V352A
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
44 |
N/A |
INTRINSIC |
low complexity region
|
52 |
97 |
N/A |
INTRINSIC |
WW
|
146 |
178 |
2.11e1 |
SMART |
low complexity region
|
235 |
249 |
N/A |
INTRINSIC |
WW
|
344 |
376 |
3.29e-4 |
SMART |
low complexity region
|
402 |
415 |
N/A |
INTRINSIC |
FF
|
454 |
507 |
4.57e-12 |
SMART |
FF
|
520 |
574 |
1.53e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161213
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162222
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
G |
T |
5: 121,769,527 (GRCm39) |
S643Y |
probably damaging |
Het |
Acox3 |
T |
C |
5: 35,758,896 (GRCm39) |
F369S |
probably damaging |
Het |
Cacna1a |
A |
G |
8: 85,310,324 (GRCm39) |
I1461V |
possibly damaging |
Het |
Cdc42bpb |
A |
C |
12: 111,261,579 (GRCm39) |
V107G |
probably benign |
Het |
Cdhr4 |
A |
G |
9: 107,873,459 (GRCm39) |
D397G |
probably damaging |
Het |
Chd1l |
T |
C |
3: 97,505,019 (GRCm39) |
T183A |
probably benign |
Het |
Cnbd2 |
T |
C |
2: 156,177,318 (GRCm39) |
V92A |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cyp2j7 |
T |
C |
4: 96,087,687 (GRCm39) |
T408A |
possibly damaging |
Het |
H2-T24 |
A |
G |
17: 36,328,370 (GRCm39) |
S38P |
possibly damaging |
Het |
Mapkapk3 |
A |
G |
9: 107,134,265 (GRCm39) |
V333A |
probably damaging |
Het |
Muc5ac |
T |
G |
7: 141,356,572 (GRCm39) |
V1053G |
possibly damaging |
Het |
Myh1 |
T |
C |
11: 67,102,403 (GRCm39) |
V898A |
probably benign |
Het |
Nnt |
T |
C |
13: 119,533,327 (GRCm39) |
I113V |
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or5d38 |
A |
T |
2: 87,954,817 (GRCm39) |
C171S |
possibly damaging |
Het |
Rpl10a |
T |
A |
17: 28,549,933 (GRCm39) |
Y205N |
probably benign |
Het |
Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
Scn3a |
A |
G |
2: 65,325,379 (GRCm39) |
I1046T |
probably benign |
Het |
Sertad4 |
AGAGGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGAGGA |
1: 192,529,050 (GRCm39) |
|
probably benign |
Het |
Sipa1l2 |
T |
C |
8: 126,219,047 (GRCm39) |
K97E |
probably damaging |
Het |
Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
Slc22a6 |
A |
G |
19: 8,595,874 (GRCm39) |
Q72R |
probably benign |
Het |
St8sia2 |
A |
C |
7: 73,610,509 (GRCm39) |
L258R |
probably damaging |
Het |
Tas1r2 |
G |
A |
4: 139,387,363 (GRCm39) |
R245H |
probably benign |
Het |
Tpo |
G |
A |
12: 30,142,585 (GRCm39) |
P713L |
probably damaging |
Het |
Tpp2 |
T |
C |
1: 44,040,617 (GRCm39) |
Y293H |
possibly damaging |
Het |
Ttn |
G |
C |
2: 76,581,215 (GRCm39) |
A23226G |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,608,809 (GRCm39) |
V15990I |
probably benign |
Het |
|
Other mutations in Tcerg1l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00504:Tcerg1l
|
APN |
7 |
137,811,533 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01402:Tcerg1l
|
APN |
7 |
137,861,568 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01510:Tcerg1l
|
APN |
7 |
137,996,034 (GRCm39) |
splice site |
probably benign |
|
IGL01638:Tcerg1l
|
APN |
7 |
137,881,805 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01710:Tcerg1l
|
APN |
7 |
137,996,789 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02547:Tcerg1l
|
APN |
7 |
137,850,100 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02887:Tcerg1l
|
APN |
7 |
137,831,619 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03105:Tcerg1l
|
APN |
7 |
137,850,173 (GRCm39) |
splice site |
probably benign |
|
IGL03348:Tcerg1l
|
APN |
7 |
137,815,100 (GRCm39) |
missense |
probably damaging |
0.97 |
R0378:Tcerg1l
|
UTSW |
7 |
137,878,384 (GRCm39) |
missense |
probably benign |
0.01 |
R1474:Tcerg1l
|
UTSW |
7 |
137,881,804 (GRCm39) |
missense |
probably damaging |
0.99 |
R1589:Tcerg1l
|
UTSW |
7 |
137,963,496 (GRCm39) |
missense |
probably damaging |
0.99 |
R1658:Tcerg1l
|
UTSW |
7 |
137,995,909 (GRCm39) |
missense |
probably damaging |
0.98 |
R1792:Tcerg1l
|
UTSW |
7 |
137,963,595 (GRCm39) |
missense |
probably benign |
0.07 |
R1807:Tcerg1l
|
UTSW |
7 |
137,996,826 (GRCm39) |
missense |
probably benign |
0.34 |
R2920:Tcerg1l
|
UTSW |
7 |
137,850,108 (GRCm39) |
missense |
probably damaging |
0.99 |
R3148:Tcerg1l
|
UTSW |
7 |
137,861,596 (GRCm39) |
missense |
probably benign |
|
R4180:Tcerg1l
|
UTSW |
7 |
137,878,405 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4241:Tcerg1l
|
UTSW |
7 |
137,999,361 (GRCm39) |
missense |
unknown |
|
R4898:Tcerg1l
|
UTSW |
7 |
137,819,786 (GRCm39) |
missense |
probably damaging |
0.99 |
R5652:Tcerg1l
|
UTSW |
7 |
137,881,775 (GRCm39) |
missense |
probably damaging |
0.97 |
R6646:Tcerg1l
|
UTSW |
7 |
137,996,912 (GRCm39) |
splice site |
probably null |
|
R6824:Tcerg1l
|
UTSW |
7 |
137,995,844 (GRCm39) |
critical splice donor site |
probably null |
|
R7414:Tcerg1l
|
UTSW |
7 |
137,819,786 (GRCm39) |
missense |
probably damaging |
0.97 |
R7490:Tcerg1l
|
UTSW |
7 |
137,861,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R8810:Tcerg1l
|
UTSW |
7 |
137,811,526 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8889:Tcerg1l
|
UTSW |
7 |
137,999,260 (GRCm39) |
nonsense |
probably null |
|
R8892:Tcerg1l
|
UTSW |
7 |
137,999,260 (GRCm39) |
nonsense |
probably null |
|
R9146:Tcerg1l
|
UTSW |
7 |
137,831,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R9374:Tcerg1l
|
UTSW |
7 |
137,995,998 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9392:Tcerg1l
|
UTSW |
7 |
137,815,164 (GRCm39) |
missense |
probably damaging |
0.98 |
R9402:Tcerg1l
|
UTSW |
7 |
137,811,551 (GRCm39) |
missense |
probably damaging |
0.99 |
R9428:Tcerg1l
|
UTSW |
7 |
137,811,490 (GRCm39) |
missense |
probably damaging |
0.99 |
R9551:Tcerg1l
|
UTSW |
7 |
137,995,998 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9552:Tcerg1l
|
UTSW |
7 |
137,995,998 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9572:Tcerg1l
|
UTSW |
7 |
137,881,787 (GRCm39) |
missense |
probably benign |
0.07 |
R9624:Tcerg1l
|
UTSW |
7 |
137,995,923 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Predicted Primers |
PCR Primer
(F):5'- TATTTCCCCTCGTGACCAGG -3'
(R):5'- CCTTGCTGGTAAAAGGGGAC -3'
Sequencing Primer
(F):5'- TTCCGGCAGCAACAGCAG -3'
(R):5'- CCTGCTAACCAAATAAGAGAGTGTG -3'
|
Posted On |
2015-06-12 |