Incidental Mutation 'R6516:Tcerg1'
| ID |
520765 |
| 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 |
044643-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6516 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
42644552-42708858 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 42663957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025375
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025375]
[ENSMUST00000173642]
|
| AlphaFold |
Q8CGF7 |
| PDB Structure |
FBP28WW DOMAIN FROM MUS MUSCULUS [SOLUTION NMR]
FBP28WW2 domain in complex with the PPLIPPPP peptide [SOLUTION NMR]
FBP28WW2 domain in complex with PTPPPLPP peptide [SOLUTION NMR]
FBP28WW2 domain in complex with a PPPLIPPPP peptide [SOLUTION NMR]
Solution structure of the first WW domain from the mouse transcription elongation regulator 1, transcription factor CA150 [SOLUTION NMR]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000025375
|
| SMART Domains |
Protein: ENSMUSP00000025375
Gene: ENSMUSG00000024498
| 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 benign
Transcript: ENSMUST00000173642
|
| SMART Domains |
Protein: ENSMUSP00000134458
Gene: ENSMUSG00000024498
| 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 |
0.9499 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
| Validation Efficiency |
100% (63/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930558K02Rik |
A |
T |
1: 161,780,235 (GRCm39) |
V93E |
probably benign |
Het |
| Adam18 |
A |
G |
8: 25,164,703 (GRCm39) |
L4P |
probably damaging |
Het |
| Adcy8 |
A |
T |
15: 64,571,236 (GRCm39) |
Y1136N |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,613,119 (GRCm39) |
Y184C |
probably damaging |
Het |
| Ankrd6 |
G |
A |
4: 32,836,427 (GRCm39) |
R43W |
probably damaging |
Het |
| Ano8 |
G |
T |
8: 71,934,424 (GRCm39) |
|
probably null |
Het |
| Arhgap31 |
A |
G |
16: 38,429,766 (GRCm39) |
F370L |
possibly damaging |
Het |
| C7 |
A |
G |
15: 5,086,563 (GRCm39) |
V26A |
probably damaging |
Het |
| Cimap1a |
G |
A |
7: 140,428,718 (GRCm39) |
G128S |
probably damaging |
Het |
| Clec4a2 |
C |
A |
6: 123,116,365 (GRCm39) |
Q153K |
probably damaging |
Het |
| Cyp2c67 |
T |
A |
19: 39,605,873 (GRCm39) |
D341V |
probably damaging |
Het |
| Ddo |
T |
A |
10: 40,507,741 (GRCm39) |
V46E |
probably damaging |
Het |
| Deup1 |
A |
C |
9: 15,521,910 (GRCm39) |
M85R |
probably damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,323,960 (GRCm39) |
S1141R |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,356,212 (GRCm39) |
F2147L |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,518,178 (GRCm39) |
E1298G |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,781,898 (GRCm39) |
V701E |
possibly damaging |
Het |
| Dthd1 |
A |
T |
5: 62,996,607 (GRCm39) |
K447N |
probably benign |
Het |
| Eno2 |
G |
T |
6: 124,738,672 (GRCm39) |
|
probably null |
Het |
| Fastkd5 |
T |
A |
2: 130,456,221 (GRCm39) |
T790S |
possibly damaging |
Het |
| Fer1l4 |
C |
T |
2: 155,877,119 (GRCm39) |
V1139M |
probably damaging |
Het |
| Gpbp1 |
A |
T |
13: 111,589,636 (GRCm39) |
H111Q |
probably benign |
Het |
| Grk3 |
A |
T |
5: 113,109,415 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
C |
T |
17: 27,310,344 (GRCm39) |
A403V |
probably benign |
Het |
| Kcnc2 |
A |
G |
10: 112,297,905 (GRCm39) |
T610A |
probably benign |
Het |
| Kcnh1 |
T |
A |
1: 192,101,089 (GRCm39) |
D560E |
possibly damaging |
Het |
| Klc4 |
A |
T |
17: 46,953,181 (GRCm39) |
N116K |
probably damaging |
Het |
| Krba1 |
C |
T |
6: 48,390,206 (GRCm39) |
Q656* |
probably null |
Het |
| Mchr1 |
A |
G |
15: 81,122,069 (GRCm39) |
Y273C |
probably damaging |
Het |
| Myh15 |
T |
A |
16: 48,957,996 (GRCm39) |
C938S |
probably benign |
Het |
| Nutm1 |
T |
C |
2: 112,081,562 (GRCm39) |
E367G |
probably damaging |
Het |
| Or10a3n |
A |
T |
7: 108,492,972 (GRCm39) |
I214K |
probably damaging |
Het |
| Or4e2 |
A |
T |
14: 52,688,586 (GRCm39) |
T239S |
probably damaging |
Het |
| Or5w18 |
A |
T |
2: 87,633,114 (GRCm39) |
Y127F |
possibly damaging |
Het |
| Or8b48 |
A |
G |
9: 38,492,768 (GRCm39) |
N65S |
probably damaging |
Het |
| Pikfyve |
G |
T |
1: 65,304,940 (GRCm39) |
M1697I |
probably benign |
Het |
| Plcd1 |
A |
G |
9: 118,905,271 (GRCm39) |
S147P |
probably damaging |
Het |
| Plin3 |
G |
A |
17: 56,593,223 (GRCm39) |
P113L |
probably damaging |
Het |
| Pum3 |
C |
A |
19: 27,403,408 (GRCm39) |
S31I |
probably benign |
Het |
| Robo1 |
T |
C |
16: 72,821,241 (GRCm39) |
V1327A |
probably benign |
Het |
| Rpl15-ps6 |
A |
G |
15: 52,341,200 (GRCm39) |
|
noncoding transcript |
Het |
| Rpl34 |
G |
A |
3: 130,522,716 (GRCm39) |
P50L |
probably benign |
Het |
| Scnn1b |
T |
C |
7: 121,511,335 (GRCm39) |
S341P |
probably damaging |
Het |
| Sh3bp5 |
A |
T |
14: 31,097,629 (GRCm39) |
M362K |
possibly damaging |
Het |
| Slc24a5 |
A |
G |
2: 124,930,027 (GRCm39) |
T443A |
probably benign |
Het |
| Slc25a12 |
T |
C |
2: 71,154,427 (GRCm39) |
Y81C |
probably damaging |
Het |
| Slc43a3 |
A |
G |
2: 84,788,105 (GRCm39) |
T496A |
probably benign |
Het |
| Smap2 |
C |
T |
4: 120,840,303 (GRCm39) |
|
probably null |
Het |
| Sptbn5 |
T |
A |
2: 119,878,431 (GRCm39) |
|
probably benign |
Het |
| Taar5 |
A |
G |
10: 23,847,564 (GRCm39) |
S321G |
possibly damaging |
Het |
| Tbx21 |
T |
C |
11: 96,990,782 (GRCm39) |
I299V |
possibly damaging |
Het |
| Tenm3 |
G |
C |
8: 48,870,257 (GRCm39) |
Q179E |
probably benign |
Het |
| Tmem176a |
T |
G |
6: 48,821,002 (GRCm39) |
|
probably null |
Het |
| Tmem236 |
T |
C |
2: 14,200,791 (GRCm39) |
S119P |
probably benign |
Het |
| Tmprss11a |
C |
T |
5: 86,567,987 (GRCm39) |
V247M |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,901,071 (GRCm39) |
S1593P |
probably damaging |
Het |
| Ttc9b |
T |
A |
7: 27,355,412 (GRCm39) |
D227E |
probably benign |
Het |
| Usp33 |
A |
C |
3: 152,079,053 (GRCm39) |
Q435P |
probably benign |
Het |
| Vti1a |
C |
T |
19: 55,369,390 (GRCm39) |
A94V |
probably damaging |
Het |
| Wdr3 |
A |
G |
3: 100,052,992 (GRCm39) |
Y587H |
probably damaging |
Het |
| Wwc1 |
G |
A |
11: 35,758,129 (GRCm39) |
A739V |
probably benign |
Het |
| Zfp628 |
C |
G |
7: 4,923,201 (GRCm39) |
Y474* |
probably null |
Het |
| Zfp820 |
A |
T |
17: 22,038,354 (GRCm39) |
C325S |
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 |
|
R6825:Tcerg1
|
UTSW |
18 |
42,681,542 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- AGTTAGTGTTTCAGCTCCTGC -3'
(R):5'- AACCTGTGCTCGCTGTTATAG -3'
Sequencing Primer
(F):5'- GCTCCTACAGCCACACCTGTG -3'
(R):5'- CTCGCTGTTATAGCTTGTAATTT -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation