Incidental Mutation 'R6825:Tcerg1'
ID |
534134 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tcerg1
|
Ensembl Gene |
ENSMUSG00000024498 |
Gene Name |
transcription elongation regulator 1 (CA150) |
Synonyms |
ca150, p144, Fbp28, 2900090C16Rik, Taf2s, 2410022J09Rik |
MMRRC Submission |
044937-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6825 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
42644552-42708858 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 42681542 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 563
(D563G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134458
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025375]
[ENSMUST00000173642]
|
AlphaFold |
Q8CGF7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025375
AA Change: D563G
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000025375 Gene: ENSMUSG00000024498 AA Change: D563G
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
low complexity region
|
40 |
92 |
N/A |
INTRINSIC |
WW
|
132 |
164 |
8.27e-10 |
SMART |
low complexity region
|
178 |
257 |
N/A |
INTRINSIC |
low complexity region
|
260 |
347 |
N/A |
INTRINSIC |
low complexity region
|
350 |
373 |
N/A |
INTRINSIC |
WW
|
432 |
464 |
2.65e-8 |
SMART |
WW
|
531 |
563 |
1.2e-6 |
SMART |
low complexity region
|
611 |
623 |
N/A |
INTRINSIC |
coiled coil region
|
629 |
654 |
N/A |
INTRINSIC |
FF
|
661 |
714 |
2.67e-13 |
SMART |
FF
|
727 |
781 |
1.51e-12 |
SMART |
FF
|
794 |
848 |
4.29e-17 |
SMART |
FF
|
898 |
954 |
8.33e-15 |
SMART |
FF
|
956 |
1012 |
1.47e-15 |
SMART |
FF
|
1014 |
1079 |
1.3e-16 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000173642
AA Change: D563G
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000134458 Gene: ENSMUSG00000024498 AA Change: D563G
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
low complexity region
|
40 |
92 |
N/A |
INTRINSIC |
WW
|
132 |
164 |
8.27e-10 |
SMART |
low complexity region
|
178 |
257 |
N/A |
INTRINSIC |
low complexity region
|
260 |
347 |
N/A |
INTRINSIC |
low complexity region
|
350 |
373 |
N/A |
INTRINSIC |
WW
|
432 |
464 |
2.65e-8 |
SMART |
WW
|
531 |
563 |
1.2e-6 |
SMART |
low complexity region
|
611 |
623 |
N/A |
INTRINSIC |
coiled coil region
|
629 |
654 |
N/A |
INTRINSIC |
FF
|
661 |
714 |
2.67e-13 |
SMART |
FF
|
727 |
781 |
1.51e-12 |
SMART |
FF
|
794 |
848 |
4.29e-17 |
SMART |
FF
|
898 |
954 |
8.33e-15 |
SMART |
FF
|
956 |
1012 |
1.47e-15 |
SMART |
|
Meta Mutation Damage Score |
0.4882 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
Validation Efficiency |
100% (62/62) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that regulates transcriptional elongation and pre-mRNA splicing. The encoded protein interacts with the hyperphosphorylated C-terminal domain of RNA polymerase II via multiple FF domains, and with the pre-mRNA splicing factor SF1 via a WW domain. Alternative splicing results in multiple transcripts variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447C04Rik |
A |
T |
12: 72,954,654 (GRCm39) |
S206T |
probably benign |
Het |
Aasdh |
A |
T |
5: 77,036,696 (GRCm39) |
|
probably null |
Het |
Adam10 |
G |
T |
9: 70,668,884 (GRCm39) |
C400F |
probably damaging |
Het |
Ankle2 |
A |
T |
5: 110,398,635 (GRCm39) |
R561S |
probably null |
Het |
Arhgef5 |
C |
T |
6: 43,251,895 (GRCm39) |
T882I |
probably damaging |
Het |
Arpc1a |
A |
T |
5: 145,032,936 (GRCm39) |
K82* |
probably null |
Het |
Card11 |
C |
A |
5: 140,863,837 (GRCm39) |
R967L |
probably benign |
Het |
Ccdc82 |
G |
T |
9: 13,251,601 (GRCm39) |
|
probably benign |
Het |
Cebpz |
T |
C |
17: 79,227,392 (GRCm39) |
D1026G |
probably damaging |
Het |
Cit |
A |
T |
5: 116,119,833 (GRCm39) |
Q1321L |
probably damaging |
Het |
Clcn2 |
C |
A |
16: 20,528,408 (GRCm39) |
|
probably benign |
Het |
Csf3 |
G |
C |
11: 98,593,273 (GRCm39) |
G130A |
probably damaging |
Het |
Cul2 |
T |
A |
18: 3,434,946 (GRCm39) |
S737T |
probably damaging |
Het |
Cyp1a2 |
G |
A |
9: 57,584,543 (GRCm39) |
H504Y |
probably benign |
Het |
Cyp3a44 |
G |
A |
5: 145,716,396 (GRCm39) |
P398L |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,960,147 (GRCm39) |
I2206T |
probably damaging |
Het |
Efr3a |
G |
A |
15: 65,701,679 (GRCm39) |
V198I |
probably benign |
Het |
Epb41l5 |
A |
T |
1: 119,547,931 (GRCm39) |
D157E |
possibly damaging |
Het |
Ercc8 |
T |
C |
13: 108,295,343 (GRCm39) |
S6P |
probably damaging |
Het |
Faxc |
T |
C |
4: 21,931,672 (GRCm39) |
S37P |
probably benign |
Het |
Fbxl19 |
T |
A |
7: 127,349,187 (GRCm39) |
I119K |
probably damaging |
Het |
Frmd4b |
A |
G |
6: 97,302,437 (GRCm39) |
V195A |
possibly damaging |
Het |
Fut9 |
A |
T |
4: 25,619,925 (GRCm39) |
S296R |
probably benign |
Het |
Gas6 |
T |
C |
8: 13,533,674 (GRCm39) |
N112D |
probably benign |
Het |
H2-Q1 |
T |
C |
17: 35,540,028 (GRCm39) |
L99P |
probably damaging |
Het |
Helq |
A |
T |
5: 100,940,561 (GRCm39) |
I346N |
probably damaging |
Het |
Hepacam |
A |
G |
9: 37,278,976 (GRCm39) |
K2E |
possibly damaging |
Het |
Itgae |
T |
C |
11: 73,009,322 (GRCm39) |
M502T |
possibly damaging |
Het |
Kmt2a |
G |
A |
9: 44,729,704 (GRCm39) |
|
probably benign |
Het |
Lhx9 |
ACC |
ACCC |
1: 138,769,544 (GRCm39) |
|
probably null |
Het |
Macf1 |
A |
T |
4: 123,277,015 (GRCm39) |
|
probably null |
Het |
Mgat4a |
T |
A |
1: 37,503,515 (GRCm39) |
K220* |
probably null |
Het |
Or2t43 |
T |
C |
11: 58,457,476 (GRCm39) |
R232G |
possibly damaging |
Het |
Or4c104 |
T |
C |
2: 88,586,255 (GRCm39) |
I255V |
possibly damaging |
Het |
Or5b3 |
G |
A |
19: 13,388,514 (GRCm39) |
V194I |
probably benign |
Het |
Pex5 |
A |
T |
6: 124,391,340 (GRCm39) |
M18K |
probably damaging |
Het |
Phlda3 |
T |
C |
1: 135,694,562 (GRCm39) |
*126Q |
probably null |
Het |
Plxna1 |
G |
T |
6: 89,297,597 (GRCm39) |
D1862E |
probably benign |
Het |
Pold4 |
A |
T |
19: 4,282,164 (GRCm39) |
I7F |
possibly damaging |
Het |
Prkaa1 |
A |
T |
15: 5,173,432 (GRCm39) |
I19F |
possibly damaging |
Het |
Prl7d1 |
T |
G |
13: 27,894,125 (GRCm39) |
E148A |
probably benign |
Het |
Prr14l |
A |
T |
5: 32,985,892 (GRCm39) |
V1201E |
possibly damaging |
Het |
Rab3gap1 |
T |
C |
1: 127,858,158 (GRCm39) |
C510R |
probably damaging |
Het |
Rhbdf1 |
C |
T |
11: 32,159,970 (GRCm39) |
R802H |
probably damaging |
Het |
Rpl18a |
A |
C |
8: 71,348,836 (GRCm39) |
F47V |
probably damaging |
Het |
Sema5b |
C |
A |
16: 35,448,377 (GRCm39) |
|
probably null |
Het |
Sspo |
G |
A |
6: 48,442,459 (GRCm39) |
G1985R |
probably benign |
Het |
Tcaf2 |
C |
T |
6: 42,606,452 (GRCm39) |
A501T |
probably benign |
Het |
Tdh |
G |
A |
14: 63,733,281 (GRCm39) |
T155M |
probably damaging |
Het |
Tenm2 |
T |
C |
11: 35,937,711 (GRCm39) |
N1654S |
probably benign |
Het |
Tlr5 |
A |
T |
1: 182,800,609 (GRCm39) |
|
probably benign |
Het |
Tns1 |
G |
T |
1: 74,041,482 (GRCm39) |
C136* |
probably null |
Het |
Tomm5 |
A |
T |
4: 45,106,443 (GRCm39) |
|
probably null |
Het |
Trio |
A |
T |
15: 27,889,394 (GRCm39) |
F512I |
probably damaging |
Het |
Ttll5 |
A |
T |
12: 85,930,102 (GRCm39) |
|
probably null |
Het |
Upp1 |
T |
A |
11: 9,081,707 (GRCm39) |
H81Q |
probably benign |
Het |
Usp42 |
A |
G |
5: 143,713,562 (GRCm39) |
S71P |
probably damaging |
Het |
Vamp5 |
G |
A |
6: 72,357,424 (GRCm39) |
|
probably benign |
Het |
Zap70 |
A |
G |
1: 36,817,471 (GRCm39) |
Y238C |
probably damaging |
Het |
Zfp398 |
A |
G |
6: 47,843,265 (GRCm39) |
D307G |
probably damaging |
Het |
|
Other mutations in Tcerg1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00701:Tcerg1
|
APN |
18 |
42,669,407 (GRCm39) |
missense |
probably benign |
0.34 |
IGL00708:Tcerg1
|
APN |
18 |
42,704,190 (GRCm39) |
missense |
probably benign |
0.38 |
IGL00741:Tcerg1
|
APN |
18 |
42,701,518 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01314:Tcerg1
|
APN |
18 |
42,706,374 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01358:Tcerg1
|
APN |
18 |
42,657,342 (GRCm39) |
missense |
unknown |
|
IGL01832:Tcerg1
|
APN |
18 |
42,707,620 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01985:Tcerg1
|
APN |
18 |
42,663,721 (GRCm39) |
missense |
unknown |
|
IGL02937:Tcerg1
|
APN |
18 |
42,657,414 (GRCm39) |
missense |
unknown |
|
IGL02953:Tcerg1
|
APN |
18 |
42,681,535 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03082:Tcerg1
|
APN |
18 |
42,706,422 (GRCm39) |
missense |
probably damaging |
1.00 |
P0031:Tcerg1
|
UTSW |
18 |
42,706,367 (GRCm39) |
missense |
probably benign |
0.07 |
R0060:Tcerg1
|
UTSW |
18 |
42,657,073 (GRCm39) |
missense |
unknown |
|
R0138:Tcerg1
|
UTSW |
18 |
42,701,679 (GRCm39) |
splice site |
probably benign |
|
R0482:Tcerg1
|
UTSW |
18 |
42,697,305 (GRCm39) |
splice site |
probably benign |
|
R0502:Tcerg1
|
UTSW |
18 |
42,656,021 (GRCm39) |
missense |
unknown |
|
R0731:Tcerg1
|
UTSW |
18 |
42,704,905 (GRCm39) |
missense |
probably damaging |
0.99 |
R1117:Tcerg1
|
UTSW |
18 |
42,707,717 (GRCm39) |
missense |
probably damaging |
0.99 |
R1542:Tcerg1
|
UTSW |
18 |
42,686,495 (GRCm39) |
missense |
probably damaging |
0.99 |
R1571:Tcerg1
|
UTSW |
18 |
42,657,357 (GRCm39) |
missense |
unknown |
|
R1673:Tcerg1
|
UTSW |
18 |
42,685,646 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1678:Tcerg1
|
UTSW |
18 |
42,657,414 (GRCm39) |
missense |
unknown |
|
R1799:Tcerg1
|
UTSW |
18 |
42,694,012 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2094:Tcerg1
|
UTSW |
18 |
42,697,210 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2231:Tcerg1
|
UTSW |
18 |
42,657,309 (GRCm39) |
missense |
unknown |
|
R2989:Tcerg1
|
UTSW |
18 |
42,652,540 (GRCm39) |
missense |
unknown |
|
R3831:Tcerg1
|
UTSW |
18 |
42,701,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R4009:Tcerg1
|
UTSW |
18 |
42,697,201 (GRCm39) |
frame shift |
probably null |
|
R4034:Tcerg1
|
UTSW |
18 |
42,652,598 (GRCm39) |
missense |
unknown |
|
R4826:Tcerg1
|
UTSW |
18 |
42,668,180 (GRCm39) |
missense |
unknown |
|
R4858:Tcerg1
|
UTSW |
18 |
42,657,046 (GRCm39) |
missense |
unknown |
|
R5371:Tcerg1
|
UTSW |
18 |
42,652,600 (GRCm39) |
missense |
unknown |
|
R5865:Tcerg1
|
UTSW |
18 |
42,669,413 (GRCm39) |
missense |
probably damaging |
0.98 |
R6128:Tcerg1
|
UTSW |
18 |
42,644,563 (GRCm39) |
splice site |
probably null |
|
R6258:Tcerg1
|
UTSW |
18 |
42,686,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R6260:Tcerg1
|
UTSW |
18 |
42,686,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R6516:Tcerg1
|
UTSW |
18 |
42,663,957 (GRCm39) |
critical splice donor site |
probably null |
|
R7147:Tcerg1
|
UTSW |
18 |
42,683,128 (GRCm39) |
missense |
probably benign |
0.22 |
R7714:Tcerg1
|
UTSW |
18 |
42,694,000 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7739:Tcerg1
|
UTSW |
18 |
42,657,039 (GRCm39) |
missense |
unknown |
|
R7838:Tcerg1
|
UTSW |
18 |
42,670,002 (GRCm39) |
missense |
probably benign |
0.01 |
R8204:Tcerg1
|
UTSW |
18 |
42,707,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R8293:Tcerg1
|
UTSW |
18 |
42,694,020 (GRCm39) |
missense |
probably benign |
0.03 |
R8300:Tcerg1
|
UTSW |
18 |
42,683,137 (GRCm39) |
missense |
probably benign |
0.22 |
R8426:Tcerg1
|
UTSW |
18 |
42,681,466 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8514:Tcerg1
|
UTSW |
18 |
42,697,187 (GRCm39) |
missense |
probably damaging |
0.98 |
R8672:Tcerg1
|
UTSW |
18 |
42,686,559 (GRCm39) |
missense |
probably damaging |
1.00 |
R9367:Tcerg1
|
UTSW |
18 |
42,685,573 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9715:Tcerg1
|
UTSW |
18 |
42,706,413 (GRCm39) |
missense |
probably damaging |
0.99 |
R9718:Tcerg1
|
UTSW |
18 |
42,663,836 (GRCm39) |
missense |
unknown |
|
R9781:Tcerg1
|
UTSW |
18 |
42,701,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCATTTTAAACTCCATCCACAG -3'
(R):5'- TGTATCCAAACCAGAATAGCAGTC -3'
Sequencing Primer
(F):5'- TCCACAGATGAATTTGCATTTCTG -3'
(R):5'- GGGGTTAAATTCAGAGGATG -3'
|
Posted On |
2018-09-12 |