Incidental Mutation 'R8514:Tcerg1'
| ID |
656057 |
| 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 |
067945-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8514 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
42644552-42708858 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 42697187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 759
(D759E)
|
| 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 damaging
Transcript: ENSMUST00000025375
AA Change: D759E
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000025375
Gene: ENSMUSG00000024498
AA Change: D759E
| 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 |
unknown
Transcript: ENSMUST00000173642
AA Change: D759E
|
| SMART Domains |
Protein: ENSMUSP00000134458
Gene: ENSMUSG00000024498
AA Change: D759E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
96% (49/51) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcam |
A |
G |
7: 19,492,466 (GRCm39) |
V543A |
probably damaging |
Het |
| Calhm6 |
G |
A |
10: 34,002,399 (GRCm39) |
T228I |
possibly damaging |
Het |
| Capn1 |
T |
C |
19: 6,047,854 (GRCm39) |
E403G |
probably damaging |
Het |
| Casp12 |
T |
C |
9: 5,352,735 (GRCm39) |
F186L |
probably damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,121,459 (GRCm39) |
Q13R |
unknown |
Het |
| Cip2a |
T |
C |
16: 48,817,810 (GRCm39) |
V60A |
possibly damaging |
Het |
| Ckap2l |
G |
T |
2: 129,127,788 (GRCm39) |
A130E |
possibly damaging |
Het |
| Creld1 |
C |
T |
6: 113,469,830 (GRCm39) |
R411C |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,896,199 (GRCm39) |
S167T |
probably benign |
Het |
| Emc10 |
G |
T |
7: 44,142,646 (GRCm39) |
Q99K |
probably damaging |
Het |
| Fryl |
T |
A |
5: 73,242,699 (GRCm39) |
I1287L |
probably benign |
Het |
| Gjc3 |
T |
A |
5: 137,955,772 (GRCm39) |
Y171F |
probably damaging |
Het |
| Glrp1 |
GTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTG |
1: 88,431,042 (GRCm39) |
|
probably benign |
Het |
| Golga4 |
T |
C |
9: 118,384,864 (GRCm39) |
V662A |
possibly damaging |
Het |
| Gpr33 |
A |
G |
12: 52,070,181 (GRCm39) |
V286A |
probably benign |
Het |
| Htr1d |
A |
G |
4: 136,170,650 (GRCm39) |
E293G |
probably damaging |
Het |
| Ints6 |
A |
G |
14: 62,933,166 (GRCm39) |
V847A |
possibly damaging |
Het |
| Iqsec3 |
A |
G |
6: 121,390,521 (GRCm39) |
C317R |
unknown |
Het |
| Mdn1 |
T |
A |
4: 32,739,857 (GRCm39) |
Y3704N |
probably damaging |
Het |
| Micall2 |
C |
A |
5: 139,701,977 (GRCm39) |
R422L |
probably damaging |
Het |
| Mndal |
T |
C |
1: 173,687,758 (GRCm39) |
D492G |
possibly damaging |
Het |
| Myom2 |
C |
T |
8: 15,175,153 (GRCm39) |
P1244L |
possibly damaging |
Het |
| Notch1 |
A |
G |
2: 26,362,181 (GRCm39) |
C1025R |
probably damaging |
Het |
| Nthl1 |
G |
A |
17: 24,853,089 (GRCm39) |
V98M |
probably damaging |
Het |
| Or12e10 |
A |
T |
2: 87,641,054 (GRCm39) |
I297F |
probably damaging |
Het |
| Or4a15 |
T |
C |
2: 89,193,573 (GRCm39) |
I67V |
probably benign |
Het |
| Pank3 |
A |
G |
11: 35,667,186 (GRCm39) |
D101G |
probably null |
Het |
| Phtf2 |
T |
C |
5: 21,007,030 (GRCm39) |
R178G |
possibly damaging |
Het |
| Pitrm1 |
T |
C |
13: 6,618,822 (GRCm39) |
|
probably null |
Het |
| Platr25 |
T |
C |
13: 62,848,586 (GRCm39) |
Y92C |
probably damaging |
Het |
| Plpp1 |
A |
T |
13: 112,971,462 (GRCm39) |
D43V |
probably damaging |
Het |
| Prg4 |
G |
A |
1: 150,330,396 (GRCm39) |
T759I |
unknown |
Het |
| Pros1 |
A |
G |
16: 62,730,472 (GRCm39) |
T321A |
probably benign |
Het |
| Rad50 |
G |
A |
11: 53,569,766 (GRCm39) |
Q882* |
probably null |
Het |
| Rasa3 |
A |
C |
8: 13,631,322 (GRCm39) |
F533V |
probably benign |
Het |
| Rgs18 |
T |
A |
1: 144,629,765 (GRCm39) |
I165F |
probably damaging |
Het |
| Rtl1 |
C |
T |
12: 109,560,307 (GRCm39) |
V511I |
possibly damaging |
Het |
| Sdc3 |
A |
G |
4: 130,546,072 (GRCm39) |
T144A |
unknown |
Het |
| Slc9a9 |
T |
C |
9: 94,818,418 (GRCm39) |
F271L |
probably benign |
Het |
| Snrpa1 |
G |
A |
7: 65,720,381 (GRCm39) |
G195R |
probably benign |
Het |
| Spata31e5 |
C |
T |
1: 28,817,586 (GRCm39) |
V149M |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,284,406 (GRCm39) |
L893P |
probably damaging |
Het |
| Tex101 |
T |
A |
7: 24,367,957 (GRCm39) |
Q167L |
possibly damaging |
Het |
| Tnrc6a |
C |
T |
7: 122,783,438 (GRCm39) |
R970* |
probably null |
Het |
| Trmt1l |
T |
C |
1: 151,329,742 (GRCm39) |
S562P |
probably damaging |
Het |
| Tut4 |
T |
A |
4: 108,414,554 (GRCm39) |
W44R |
possibly damaging |
Het |
| Ubn1 |
A |
G |
16: 4,891,263 (GRCm39) |
E546G |
probably damaging |
Het |
| Usp38 |
T |
A |
8: 81,712,346 (GRCm39) |
Q563L |
probably benign |
Het |
| Vmn1r1 |
C |
T |
1: 181,985,138 (GRCm39) |
V176I |
probably benign |
Het |
| Vmn2r1 |
A |
G |
3: 63,993,942 (GRCm39) |
K96R |
probably benign |
Het |
| Vmn2r62 |
A |
G |
7: 42,413,992 (GRCm39) |
V817A |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 101,999,219 (GRCm39) |
C3066S |
possibly damaging |
Het |
| Yeats4 |
T |
C |
10: 117,051,660 (GRCm39) |
E199G |
possibly 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 |
|
|
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 |
|
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'- GCTGGTAGCATACACTCACTAAC -3'
(R):5'- ACTGTGCACATCCAAGGAAC -3'
Sequencing Primer
(F):5'- AACCACATTTTCAGTCCGTCAC -3'
(R):5'- GGAACACACATGCAAGTGCTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation