Incidental Mutation 'R9392:Tcerg1l'
| ID |
710627 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcerg1l
|
| Ensembl Gene |
ENSMUSG00000091002 |
| Gene Name |
transcription elongation regulator 1-like |
| Synonyms |
5730476P14Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9392 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
137810703-137999459 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 137815164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 505
(V505A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160436]
|
| AlphaFold |
Q3B807 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160436
AA Change: V505A
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124476
Gene: ENSMUSG00000091002
AA Change: V505A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (27/27) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd34c |
A |
G |
9: 89,611,787 (GRCm39) |
C185R |
possibly damaging |
Het |
| Apob |
T |
C |
12: 8,057,098 (GRCm39) |
V1860A |
probably benign |
Het |
| Bahcc1 |
C |
T |
11: 120,163,513 (GRCm39) |
R604* |
probably null |
Het |
| Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
| Cdhr4 |
A |
G |
9: 107,873,507 (GRCm39) |
D413G |
probably damaging |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
T |
A |
7: 105,421,869 (GRCm39) |
T184S |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 118,011,055 (GRCm39) |
Y2044* |
probably null |
Het |
| Dnah11 |
T |
C |
12: 118,141,290 (GRCm39) |
T489A |
probably benign |
Het |
| Dnah7b |
C |
T |
1: 46,162,898 (GRCm39) |
Q415* |
probably null |
Het |
| Eml5 |
T |
C |
12: 98,867,199 (GRCm39) |
Y30C |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,476,228 (GRCm39) |
Y1758C |
probably damaging |
Het |
| Fndc1 |
A |
T |
17: 7,991,957 (GRCm39) |
S580T |
unknown |
Het |
| Ift57 |
T |
C |
16: 49,584,174 (GRCm39) |
I394T |
possibly damaging |
Het |
| Itpr1 |
T |
A |
6: 108,390,837 (GRCm39) |
S1579T |
probably benign |
Het |
| Kcnj14 |
A |
T |
7: 45,467,159 (GRCm39) |
C396S |
probably benign |
Het |
| Lig3 |
G |
A |
11: 82,680,666 (GRCm39) |
C413Y |
probably benign |
Het |
| Or8b38 |
T |
C |
9: 37,973,195 (GRCm39) |
I193T |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,794,567 (GRCm39) |
T2315A |
|
Het |
| Rptn |
A |
T |
3: 93,305,721 (GRCm39) |
H1018L |
probably benign |
Het |
| Rsph4a |
G |
A |
10: 33,781,236 (GRCm39) |
V29I |
probably benign |
Het |
| Shroom1 |
C |
A |
11: 53,354,674 (GRCm39) |
P198Q |
possibly damaging |
Het |
| Sipa1l2 |
A |
G |
8: 126,194,960 (GRCm39) |
V926A |
probably benign |
Het |
| Swap70 |
T |
C |
7: 109,865,191 (GRCm39) |
|
probably null |
Het |
| Ubr5 |
A |
G |
15: 37,984,251 (GRCm39) |
S2299P |
|
Het |
| Vmn2r25 |
T |
C |
6: 123,816,937 (GRCm39) |
I215V |
probably benign |
Het |
| Vmn2r65 |
T |
A |
7: 84,589,718 (GRCm39) |
I733F |
possibly damaging |
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 |
|
|
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 |
|
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'- AAGTACCGGGTTCCCAAAGG -3'
(R):5'- CCAAGGCTGTGTTACTGAGAGG -3'
Sequencing Primer
(F):5'- GTTCCCAAAGGGTCTCCG -3'
(R):5'- AAGGCTGTGTTACTGAGAGGTCTTG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation