Incidental Mutation 'R3116:Ints5'
| ID |
264051 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints5
|
| Ensembl Gene |
ENSMUSG00000116347 |
| Gene Name |
integrator complex subunit 5 |
| Synonyms |
1110055N21Rik |
| MMRRC Submission |
040589-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.551)
|
| Stock # |
R3116 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
8870369-8875252 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8872136 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 32
(S32P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093968
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096246]
[ENSMUST00000096249]
[ENSMUST00000096251]
[ENSMUST00000185488]
[ENSMUST00000187504]
[ENSMUST00000191089]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096246
|
| SMART Domains |
Protein: ENSMUSP00000093965
Gene: ENSMUSG00000071650
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
169 |
N/A |
INTRINSIC |
|
Pfam:Gal_mutarotas_2
|
275 |
346 |
3.9e-24 |
PFAM |
|
Pfam:Glyco_hydro_31
|
387 |
832 |
8.7e-136 |
PFAM |
|
low complexity region
|
888 |
898 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096249
AA Change: S32P
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000093968
Gene: ENSMUSG00000071652
AA Change: S32P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
25 |
N/A |
INTRINSIC |
|
Pfam:INTS5_N
|
29 |
252 |
1e-82 |
PFAM |
|
low complexity region
|
254 |
267 |
N/A |
INTRINSIC |
|
Pfam:INTS5_C
|
289 |
998 |
2.2e-249 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096251
|
| SMART Domains |
Protein: ENSMUSP00000093970
Gene: ENSMUSG00000071653
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
112 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185488
|
| SMART Domains |
Protein: ENSMUSP00000140221
Gene: ENSMUSG00000071653
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
37 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186647
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187037
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187504
|
| SMART Domains |
Protein: ENSMUSP00000139692
Gene: ENSMUSG00000096740
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lbh
|
1 |
101 |
2.5e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188635
|
| Predicted Effect |
silent
Transcript: ENSMUST00000191089
|
| SMART Domains |
Protein: ENSMUSP00000140564
Gene: ENSMUSG00000116347
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
37 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190530
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Integrator complex is a complex that associates with the C-terminal domain of RNA polymerase II large subunit. This complex is brought to U1 and U2 small nuclear RNA genes, where it is involved in the transcription and processing of their transcripts. The protein encoded by this gene represents a subunit of the Integrator complex. [provided by RefSeq, Aug 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,946,610 (GRCm39) |
I37F |
possibly damaging |
Het |
| Aoc1l3 |
A |
G |
6: 48,964,331 (GRCm39) |
Y113C |
probably damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,521,953 (GRCm39) |
N357S |
probably benign |
Het |
| Csmd3 |
A |
G |
15: 47,520,995 (GRCm39) |
F2783S |
probably damaging |
Het |
| Desi2 |
T |
A |
1: 178,072,008 (GRCm39) |
M104K |
probably damaging |
Het |
| Disp1 |
C |
T |
1: 182,870,486 (GRCm39) |
V645I |
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,165,858 (GRCm39) |
H1914L |
probably benign |
Het |
| Fdft1 |
T |
C |
14: 63,415,147 (GRCm39) |
I28M |
probably benign |
Het |
| Ffar3 |
T |
C |
7: 30,555,231 (GRCm39) |
M30V |
probably benign |
Het |
| Grm3 |
A |
T |
5: 9,620,752 (GRCm39) |
F164Y |
probably damaging |
Het |
| Itgam |
T |
A |
7: 127,715,201 (GRCm39) |
S908R |
probably damaging |
Het |
| Kif20b |
C |
T |
19: 34,947,480 (GRCm39) |
P1565L |
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,940,121 (GRCm39) |
E1610G |
probably damaging |
Het |
| Krt24 |
T |
A |
11: 99,173,262 (GRCm39) |
T298S |
possibly damaging |
Het |
| Magoh |
T |
C |
4: 107,744,409 (GRCm39) |
V126A |
possibly damaging |
Het |
| Marchf6 |
G |
A |
15: 31,486,265 (GRCm39) |
S362F |
probably benign |
Het |
| Meak7 |
G |
A |
8: 120,495,056 (GRCm39) |
A234V |
probably benign |
Het |
| Mier3 |
T |
A |
13: 111,843,182 (GRCm39) |
I178N |
probably damaging |
Het |
| Moxd1 |
G |
T |
10: 24,177,429 (GRCm39) |
E582* |
probably null |
Het |
| Ncor2 |
A |
T |
5: 125,101,230 (GRCm39) |
L2195Q |
probably damaging |
Het |
| Neil1 |
A |
T |
9: 57,053,947 (GRCm39) |
D124E |
probably benign |
Het |
| Nhsl1 |
A |
T |
10: 18,400,916 (GRCm39) |
Q714L |
probably damaging |
Het |
| Nipbl |
T |
A |
15: 8,373,076 (GRCm39) |
M1057L |
probably benign |
Het |
| Npas3 |
G |
A |
12: 54,114,508 (GRCm39) |
|
probably null |
Het |
| Oas1h |
C |
T |
5: 120,999,679 (GRCm39) |
Q55* |
probably null |
Het |
| Or2a5 |
T |
C |
6: 42,873,784 (GRCm39) |
V133A |
probably benign |
Het |
| Or2ag2b |
T |
A |
7: 106,417,571 (GRCm39) |
F94I |
probably damaging |
Het |
| Or52h9 |
C |
A |
7: 104,202,295 (GRCm39) |
H56Q |
probably benign |
Het |
| Or5p61 |
T |
C |
7: 107,759,029 (GRCm39) |
E17G |
probably benign |
Het |
| Or7d9 |
A |
T |
9: 20,197,523 (GRCm39) |
H176L |
probably benign |
Het |
| Phactr2 |
C |
A |
10: 13,137,645 (GRCm39) |
E166* |
probably null |
Het |
| Prkdc |
C |
T |
16: 15,482,222 (GRCm39) |
L422F |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,499,971 (GRCm39) |
V1051A |
probably damaging |
Het |
| Pxdn |
T |
C |
12: 30,052,306 (GRCm39) |
S828P |
possibly damaging |
Het |
| Rad21 |
T |
A |
15: 51,828,397 (GRCm39) |
E557V |
probably null |
Het |
| Rtn3 |
T |
G |
19: 7,409,355 (GRCm39) |
N888H |
probably damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,838,101 (GRCm39) |
|
probably null |
Het |
| Slc7a11 |
T |
A |
3: 50,338,588 (GRCm39) |
M274L |
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,360,979 (GRCm39) |
N825S |
probably damaging |
Het |
| Tln2 |
T |
A |
9: 67,262,421 (GRCm39) |
D610V |
probably benign |
Het |
| Tmed11 |
C |
T |
5: 108,927,705 (GRCm39) |
V110M |
probably damaging |
Het |
| Tmem92 |
T |
C |
11: 94,673,254 (GRCm39) |
D3G |
possibly damaging |
Het |
| Trp53rkb |
C |
T |
2: 166,636,009 (GRCm39) |
|
probably benign |
Het |
| Wdr91 |
A |
G |
6: 34,882,522 (GRCm39) |
L209P |
probably damaging |
Het |
| Zfp511 |
T |
A |
7: 139,616,504 (GRCm39) |
D46E |
probably benign |
Het |
| Zfp804a |
C |
A |
2: 82,089,761 (GRCm39) |
Q1197K |
probably damaging |
Het |
|
| Other mutations in Ints5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01448:Ints5
|
APN |
19 |
8,872,851 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01915:Ints5
|
APN |
19 |
8,874,357 (GRCm39) |
missense |
probably benign |
|
|
IGL01993:Ints5
|
APN |
19 |
8,872,829 (GRCm39) |
missense |
probably benign |
|
|
IGL02264:Ints5
|
APN |
19 |
8,873,076 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02367:Ints5
|
APN |
19 |
8,872,959 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02955:Ints5
|
APN |
19 |
8,875,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4449:Ints5
|
UTSW |
19 |
8,874,594 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0348:Ints5
|
UTSW |
19 |
8,873,114 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0379:Ints5
|
UTSW |
19 |
8,874,497 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0617:Ints5
|
UTSW |
19 |
8,873,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Ints5
|
UTSW |
19 |
8,872,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2172:Ints5
|
UTSW |
19 |
8,873,646 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2370:Ints5
|
UTSW |
19 |
8,874,143 (GRCm39) |
missense |
probably benign |
|
|
R4395:Ints5
|
UTSW |
19 |
8,873,808 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5390:Ints5
|
UTSW |
19 |
8,873,931 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6868:Ints5
|
UTSW |
19 |
8,874,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7133:Ints5
|
UTSW |
19 |
8,872,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7685:Ints5
|
UTSW |
19 |
8,874,168 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7999:Ints5
|
UTSW |
19 |
8,874,407 (GRCm39) |
missense |
probably benign |
|
|
R8024:Ints5
|
UTSW |
19 |
8,873,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8296:Ints5
|
UTSW |
19 |
8,872,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8672:Ints5
|
UTSW |
19 |
8,873,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9027:Ints5
|
UTSW |
19 |
8,873,322 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9493:Ints5
|
UTSW |
19 |
8,872,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Ints5
|
UTSW |
19 |
8,873,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ints5
|
UTSW |
19 |
8,872,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Ints5
|
UTSW |
19 |
8,872,299 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGAAGGACAAATAGCATTTCTTG -3'
(R):5'- AGGACTTTCTTCTAGGGCAGC -3'
Sequencing Primer
(F):5'- GCATTTCTTGAATGACCAAGGTG -3'
(R):5'- ACTTTCTTCTAGGGCAGCTAGGTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation