Incidental Mutation 'R3148:Tcerg1l'
| ID |
264327 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcerg1l
|
| Ensembl Gene |
ENSMUSG00000091002 |
| Gene Name |
transcription elongation regulator 1-like |
| Synonyms |
5730476P14Rik |
| MMRRC Submission |
040600-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3148 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
137810703-137999459 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 137861596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 378
(Q378K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160436]
|
| AlphaFold |
Q3B807 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160436
AA Change: Q378K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124476
Gene: ENSMUSG00000091002
AA Change: Q378K
| 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: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933436I01Rik |
T |
C |
X: 66,964,984 (GRCm39) |
D12G |
probably benign |
Het |
| Adamts18 |
C |
A |
8: 114,465,490 (GRCm39) |
V701L |
probably damaging |
Het |
| Alg2 |
A |
T |
4: 47,472,259 (GRCm39) |
V183D |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,726,724 (GRCm39) |
I857V |
probably benign |
Het |
| Asb15 |
G |
T |
6: 24,566,258 (GRCm39) |
A404S |
probably damaging |
Het |
| Baalc |
A |
T |
15: 38,812,568 (GRCm39) |
E106V |
possibly damaging |
Het |
| Catsperd |
G |
T |
17: 56,971,039 (GRCm39) |
C701F |
possibly damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,866,497 (GRCm39) |
I769N |
probably damaging |
Het |
| Cntnap4 |
A |
G |
8: 113,484,071 (GRCm39) |
T375A |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,790,473 (GRCm39) |
T974A |
unknown |
Het |
| Ehbp1 |
T |
C |
11: 22,050,465 (GRCm39) |
Y502C |
probably damaging |
Het |
| Kcnj11 |
C |
T |
7: 45,748,544 (GRCm39) |
V260I |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Marf1 |
A |
G |
16: 13,943,843 (GRCm39) |
V1380A |
possibly damaging |
Het |
| Or4k36 |
T |
C |
2: 111,146,633 (GRCm39) |
F270L |
possibly damaging |
Het |
| Otog |
T |
C |
7: 45,939,593 (GRCm39) |
L2124P |
probably damaging |
Het |
| Pam |
T |
A |
1: 97,823,403 (GRCm39) |
N256I |
possibly damaging |
Het |
| Pcbp1 |
C |
T |
6: 86,502,471 (GRCm39) |
E143K |
probably damaging |
Het |
| Pramel21 |
A |
T |
4: 143,344,047 (GRCm39) |
D449V |
probably benign |
Het |
| Prrx1 |
T |
C |
1: 163,085,417 (GRCm39) |
D171G |
probably benign |
Het |
| Rasal2 |
A |
T |
1: 157,071,334 (GRCm39) |
|
probably benign |
Het |
| Serpinb5 |
T |
A |
1: 106,809,555 (GRCm39) |
H320Q |
probably damaging |
Het |
| Snx4 |
A |
C |
16: 33,108,094 (GRCm39) |
D296A |
probably benign |
Het |
| Sorcs2 |
T |
C |
5: 36,193,132 (GRCm39) |
Q778R |
probably benign |
Het |
| Spata16 |
T |
C |
3: 26,932,861 (GRCm39) |
|
probably null |
Het |
| Trpm1 |
T |
C |
7: 63,884,760 (GRCm39) |
Y814H |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTGCAGTCCTGAACACG -3'
(R):5'- CCCTAGAATGTCTTCACAGTCCAG -3'
Sequencing Primer
(F):5'- TGCAGTCCTGAACACGACTCC -3'
(R):5'- TCTTCACAGTCCAGAAGGGCATG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation