Incidental Mutation 'R4241:Tcerg1l'
| ID |
371167 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcerg1l
|
| Ensembl Gene |
ENSMUSG00000091002 |
| Gene Name |
transcription elongation regulator 1-like |
| Synonyms |
5730476P14Rik |
| MMRRC Submission |
041058-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4241 (G1)
|
| Quality Score |
28 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
137810703-137999459 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 137999361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 8
(Q8K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160436]
|
| AlphaFold |
Q3B807 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000160436
AA Change: Q8K
|
| SMART Domains |
Protein: ENSMUSP00000124476
Gene: ENSMUSG00000091002
AA Change: Q8K
| 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: ENSMUST00000162222
|
| Meta Mutation Damage Score |
0.0740 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (49/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
A |
T |
3: 116,548,497 (GRCm39) |
|
probably benign |
Het |
| Ap5b1 |
C |
T |
19: 5,618,825 (GRCm39) |
L82F |
possibly damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,500,912 (GRCm39) |
S1113P |
probably damaging |
Het |
| Atoh1 |
A |
C |
6: 64,706,758 (GRCm39) |
N151T |
probably damaging |
Het |
| Bcas3 |
T |
A |
11: 85,361,652 (GRCm39) |
S25R |
probably damaging |
Het |
| Blcap |
T |
A |
2: 157,402,343 (GRCm39) |
|
probably benign |
Het |
| Btbd6 |
C |
T |
12: 112,940,416 (GRCm39) |
A13V |
probably benign |
Het |
| Ccdc83 |
A |
C |
7: 89,896,346 (GRCm39) |
N74K |
probably damaging |
Het |
| Cdh9 |
A |
G |
15: 16,849,165 (GRCm39) |
|
probably null |
Het |
| Chd1 |
C |
T |
17: 15,990,289 (GRCm39) |
R1614* |
probably null |
Het |
| Col16a1 |
G |
T |
4: 129,992,843 (GRCm39) |
Q1567H |
probably damaging |
Het |
| Coq6 |
A |
T |
12: 84,420,563 (GRCm39) |
|
probably benign |
Het |
| Cpd |
T |
C |
11: 76,737,611 (GRCm39) |
D61G |
probably benign |
Het |
| Csnk1e |
A |
G |
15: 79,309,095 (GRCm39) |
F277S |
probably damaging |
Het |
| Cyp2d41-ps |
T |
A |
15: 82,663,787 (GRCm39) |
|
noncoding transcript |
Het |
| Dbt |
T |
C |
3: 116,326,945 (GRCm39) |
I98T |
probably damaging |
Het |
| Eif3e |
G |
A |
15: 43,126,086 (GRCm39) |
T287I |
probably damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,853,760 (GRCm39) |
S1575G |
probably damaging |
Het |
| Gm7135 |
A |
G |
1: 97,281,678 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr176 |
A |
T |
2: 118,110,091 (GRCm39) |
S389R |
probably benign |
Het |
| Hax1 |
A |
G |
3: 89,902,997 (GRCm39) |
S257P |
probably damaging |
Het |
| Herc1 |
CTGAGGACTCTTTG |
CTG |
9: 66,355,630 (GRCm39) |
|
probably null |
Het |
| Ighv1-53 |
C |
T |
12: 115,122,442 (GRCm39) |
C5Y |
probably benign |
Het |
| Klhl13 |
T |
A |
X: 23,181,414 (GRCm39) |
D2V |
probably damaging |
Het |
| Kynu |
A |
T |
2: 43,571,422 (GRCm39) |
H446L |
probably benign |
Het |
| Lingo1 |
A |
G |
9: 56,527,386 (GRCm39) |
F401S |
probably damaging |
Het |
| Lmbrd1 |
C |
T |
1: 24,732,049 (GRCm39) |
Q89* |
probably null |
Het |
| Mov10 |
T |
A |
3: 104,704,592 (GRCm39) |
Q773L |
probably benign |
Het |
| Or52e19 |
G |
T |
7: 102,959,868 (GRCm39) |
*313Y |
probably null |
Het |
| Or7c70 |
T |
A |
10: 78,683,739 (GRCm39) |
R3S |
probably benign |
Het |
| Pde6c |
G |
A |
19: 38,151,293 (GRCm39) |
G608S |
probably damaging |
Het |
| Peli3 |
T |
C |
19: 4,982,426 (GRCm39) |
H413R |
probably damaging |
Het |
| Pkdrej |
C |
T |
15: 85,702,345 (GRCm39) |
R1197Q |
probably damaging |
Het |
| Rcan2 |
T |
A |
17: 44,264,370 (GRCm39) |
V10D |
probably benign |
Het |
| Slc10a5 |
A |
G |
3: 10,400,520 (GRCm39) |
S47P |
probably damaging |
Het |
| Sprr3 |
A |
G |
3: 92,364,214 (GRCm39) |
V210A |
possibly damaging |
Het |
| Ubfd1 |
T |
C |
7: 121,670,977 (GRCm39) |
V265A |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,764,867 (GRCm39) |
D529G |
possibly damaging |
Het |
| Vmn1r180 |
A |
T |
7: 23,652,298 (GRCm39) |
I154F |
probably damaging |
Het |
| Vmn1r237 |
A |
G |
17: 21,534,925 (GRCm39) |
H216R |
possibly damaging |
Het |
| Whrn |
C |
T |
4: 63,351,210 (GRCm39) |
|
probably benign |
Het |
| Zfr |
T |
G |
15: 12,149,745 (GRCm39) |
D388E |
probably damaging |
Het |
| Zic5 |
T |
C |
14: 122,702,075 (GRCm39) |
I219V |
probably benign |
Het |
| Zmat5 |
A |
G |
11: 4,678,614 (GRCm39) |
N53D |
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 |
|
|
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 |
|
|
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'- ATAGGAAGGGACCCGCAATACC -3'
(R):5'- GAGCAATTGGCCACCAGTAG -3'
Sequencing Primer
(F):5'- TTACCTGTCCGTGGAGCAG -3'
(R):5'- AAATCAGCCGGCTGGGTTG -3'
|
| Posted On |
2016-02-29 |
Incidental Mutation