Incidental Mutation 'IGL00504:Tcerg1l'
| ID |
6248 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00504
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
137810703-137999459 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 137811533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 554
(R554G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160436]
|
| AlphaFold |
Q3B807 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160436
AA Change: R554G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124476
Gene: ENSMUSG00000091002
AA Change: R554G
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atpaf2 |
T |
C |
11: 60,296,629 (GRCm39) |
D168G |
probably damaging |
Het |
| Bcorl1 |
T |
G |
X: 47,494,919 (GRCm39) |
V1730G |
probably damaging |
Het |
| Cela3b |
A |
T |
4: 137,150,592 (GRCm39) |
V202E |
probably damaging |
Het |
| Col3a1 |
A |
G |
1: 45,386,295 (GRCm39) |
D145G |
probably damaging |
Het |
| Cpsf6 |
A |
T |
10: 117,202,034 (GRCm39) |
|
probably benign |
Het |
| Dock5 |
A |
G |
14: 68,024,338 (GRCm39) |
|
probably benign |
Het |
| Folh1 |
T |
G |
7: 86,383,351 (GRCm39) |
R465S |
probably damaging |
Het |
| Garem1 |
T |
A |
18: 21,281,714 (GRCm39) |
Q214L |
probably damaging |
Het |
| Ldb2 |
T |
A |
5: 44,699,026 (GRCm39) |
|
probably null |
Het |
| Lmln |
A |
G |
16: 32,903,435 (GRCm39) |
N283S |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,981,352 (GRCm39) |
N508S |
possibly damaging |
Het |
| Obsl1 |
C |
A |
1: 75,467,518 (GRCm39) |
G1419C |
probably benign |
Het |
| Pafah1b3 |
T |
A |
7: 24,995,614 (GRCm39) |
T115S |
probably benign |
Het |
| Pcdhb5 |
C |
A |
18: 37,455,162 (GRCm39) |
A514E |
probably damaging |
Het |
| Prl8a8 |
G |
T |
13: 27,693,593 (GRCm39) |
T144K |
probably damaging |
Het |
| Rasgrp1 |
T |
A |
2: 117,136,272 (GRCm39) |
K105* |
probably null |
Het |
| Rin1 |
T |
C |
19: 5,102,438 (GRCm39) |
S316P |
probably benign |
Het |
| Serpinb3b |
A |
T |
1: 107,085,411 (GRCm39) |
F110Y |
probably benign |
Het |
| Sh3bgrl2 |
C |
T |
9: 83,459,607 (GRCm39) |
P55L |
probably benign |
Het |
| Slc10a2 |
T |
A |
8: 5,141,668 (GRCm39) |
S239C |
probably damaging |
Het |
| Slc10a2 |
C |
A |
8: 5,141,667 (GRCm39) |
S239I |
probably benign |
Het |
| Slc6a15 |
T |
C |
10: 103,225,002 (GRCm39) |
V30A |
probably benign |
Het |
| Sncaip |
T |
G |
18: 53,018,035 (GRCm39) |
|
probably null |
Het |
| Tfap2b |
A |
G |
1: 19,284,250 (GRCm39) |
S35G |
possibly damaging |
Het |
| Tor1a |
A |
G |
2: 30,857,202 (GRCm39) |
I116T |
probably damaging |
Het |
| Tprg1l |
A |
G |
4: 154,242,890 (GRCm39) |
S188P |
probably damaging |
Het |
| Tut4 |
G |
A |
4: 108,407,925 (GRCm39) |
R1398H |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,839,394 (GRCm39) |
V2050E |
possibly damaging |
Het |
| Zfp280d |
T |
C |
9: 72,229,853 (GRCm39) |
C362R |
probably damaging |
Het |
|
| Other mutations in Tcerg1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R4106:Tcerg1l
|
UTSW |
7 |
137,861,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation