Incidental Mutation 'R8520:Ints7'
| ID |
658575 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints7
|
| Ensembl Gene |
ENSMUSG00000037461 |
| Gene Name |
integrator complex subunit 7 |
| Synonyms |
5930412E23Rik |
| MMRRC Submission |
067947-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R8520 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
191307748-191355800 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 191314603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 63
(S63P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045450]
[ENSMUST00000193569]
[ENSMUST00000194785]
[ENSMUST00000194877]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045450
AA Change: S63P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036277
Gene: ENSMUSG00000037461
AA Change: S63P
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
76 |
530 |
1e-10 |
SMART |
|
low complexity region
|
937 |
960 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193569
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194785
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194877
|
| Meta Mutation Damage Score |
0.4006 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (51/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the integrator complex. The integrator complex associates with the C-terminal domain of RNA polymerase II and mediates 3'-end processing of the small nuclear RNAs U1 and U2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
A |
T |
13: 59,838,423 (GRCm39) |
F136L |
possibly damaging |
Het |
| A430033K04Rik |
T |
A |
5: 138,644,968 (GRCm39) |
N284K |
possibly damaging |
Het |
| Abcb1a |
T |
C |
5: 8,735,346 (GRCm39) |
I151T |
possibly damaging |
Het |
| Adam28 |
C |
T |
14: 68,879,532 (GRCm39) |
G172D |
probably damaging |
Het |
| Adcy6 |
A |
G |
15: 98,502,041 (GRCm39) |
V191A |
probably benign |
Het |
| Ankrd52 |
T |
C |
10: 128,225,359 (GRCm39) |
L911P |
probably damaging |
Het |
| C5ar1 |
A |
G |
7: 15,982,076 (GRCm39) |
S315P |
probably damaging |
Het |
| Cubn |
A |
G |
2: 13,313,331 (GRCm39) |
|
probably null |
Het |
| Dlec1 |
T |
C |
9: 118,941,277 (GRCm39) |
S276P |
probably benign |
Het |
| Dnah14 |
T |
A |
1: 181,481,203 (GRCm39) |
I1564N |
probably damaging |
Het |
| Dsg2 |
G |
A |
18: 20,712,508 (GRCm39) |
G171R |
probably damaging |
Het |
| Dusp13b |
C |
A |
14: 21,793,538 (GRCm39) |
G208* |
probably null |
Het |
| Ebf3 |
A |
C |
7: 136,802,853 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
A |
T |
18: 58,171,270 (GRCm39) |
|
probably null |
Het |
| Fbxo27 |
A |
G |
7: 28,392,767 (GRCm39) |
D16G |
probably benign |
Het |
| G6pc3 |
A |
G |
11: 102,083,934 (GRCm39) |
S187G |
probably benign |
Het |
| Gucy2d |
G |
A |
7: 98,121,513 (GRCm39) |
V995I |
probably null |
Het |
| Hmcn2 |
C |
A |
2: 31,244,726 (GRCm39) |
P728T |
probably damaging |
Het |
| Il1r2 |
T |
C |
1: 40,144,499 (GRCm39) |
L62P |
probably damaging |
Het |
| Lyset |
T |
A |
12: 102,710,431 (GRCm39) |
|
probably null |
Het |
| Mcf2l |
C |
A |
8: 12,930,089 (GRCm39) |
D36E |
probably benign |
Het |
| Mfsd13b |
T |
G |
7: 120,590,586 (GRCm39) |
I109S |
probably benign |
Het |
| Mier2 |
G |
A |
10: 79,378,263 (GRCm39) |
H385Y |
possibly damaging |
Het |
| Mydgf |
C |
A |
17: 56,490,734 (GRCm39) |
|
probably null |
Het |
| Nanog |
A |
T |
6: 122,690,475 (GRCm39) |
L268F |
possibly damaging |
Het |
| Or12j5 |
T |
A |
7: 140,084,315 (GRCm39) |
D19V |
probably benign |
Het |
| Or14a259 |
A |
T |
7: 86,013,471 (GRCm39) |
C25S |
probably benign |
Het |
| Otud4 |
T |
A |
8: 80,385,896 (GRCm39) |
N256K |
probably damaging |
Het |
| P2rx1 |
A |
T |
11: 72,899,779 (GRCm39) |
D128V |
probably benign |
Het |
| Pappa |
G |
A |
4: 65,254,001 (GRCm39) |
V1552I |
probably benign |
Het |
| Pax8 |
A |
T |
2: 24,333,034 (GRCm39) |
F103I |
probably damaging |
Het |
| Ptk2b |
T |
A |
14: 66,412,204 (GRCm39) |
S396C |
probably damaging |
Het |
| Rnf148 |
A |
G |
6: 23,654,169 (GRCm39) |
Y276H |
probably damaging |
Het |
| Sec11c |
A |
T |
18: 65,947,911 (GRCm39) |
I93L |
probably damaging |
Het |
| Serpinb2 |
T |
A |
1: 107,450,910 (GRCm39) |
N217K |
probably benign |
Het |
| Slc2a13 |
T |
A |
15: 91,457,105 (GRCm39) |
T66S |
probably damaging |
Het |
| Slc4a3 |
T |
C |
1: 75,526,506 (GRCm39) |
M9T |
probably benign |
Het |
| Sord |
G |
A |
2: 122,087,423 (GRCm39) |
V176I |
possibly damaging |
Het |
| Thbs4 |
G |
A |
13: 92,890,792 (GRCm39) |
Q892* |
probably null |
Het |
| Thsd7b |
T |
A |
1: 129,849,157 (GRCm39) |
D956E |
probably benign |
Het |
| Topbp1 |
T |
A |
9: 103,186,176 (GRCm39) |
|
probably null |
Het |
| Tst |
T |
C |
15: 78,289,453 (GRCm39) |
E194G |
probably damaging |
Het |
| Ttk |
T |
A |
9: 83,739,380 (GRCm39) |
S484T |
possibly damaging |
Het |
| U2surp |
A |
G |
9: 95,384,607 (GRCm39) |
S26P |
possibly damaging |
Het |
| Ugt2b37 |
C |
T |
5: 87,388,714 (GRCm39) |
A500T |
probably benign |
Het |
| Utrn |
A |
T |
10: 12,545,930 (GRCm39) |
Y1669* |
probably null |
Het |
| Vmn2r23 |
A |
T |
6: 123,718,615 (GRCm39) |
Q656L |
probably damaging |
Het |
| Wdr7 |
A |
G |
18: 64,120,231 (GRCm39) |
N1424S |
probably benign |
Het |
| Xkr9 |
A |
G |
1: 13,771,603 (GRCm39) |
D373G |
probably benign |
Het |
| Zfp984 |
T |
A |
4: 147,840,668 (GRCm39) |
Y61F |
probably benign |
Het |
|
| Other mutations in Ints7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00904:Ints7
|
APN |
1 |
191,328,276 (GRCm39) |
splice site |
probably null |
|
|
IGL01285:Ints7
|
APN |
1 |
191,347,890 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01289:Ints7
|
APN |
1 |
191,347,890 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01572:Ints7
|
APN |
1 |
191,347,905 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01665:Ints7
|
APN |
1 |
191,345,331 (GRCm39) |
splice site |
probably benign |
|
|
IGL02059:Ints7
|
APN |
1 |
191,347,872 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02684:Ints7
|
APN |
1 |
191,345,749 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02686:Ints7
|
APN |
1 |
191,318,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02812:Ints7
|
APN |
1 |
191,351,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03119:Ints7
|
APN |
1 |
191,342,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03162:Ints7
|
APN |
1 |
191,353,524 (GRCm39) |
utr 3 prime |
probably benign |
|
|
PIT4810001:Ints7
|
UTSW |
1 |
191,328,348 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0294:Ints7
|
UTSW |
1 |
191,344,003 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0479:Ints7
|
UTSW |
1 |
191,346,666 (GRCm39) |
splice site |
probably null |
|
|
R0698:Ints7
|
UTSW |
1 |
191,326,576 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1420:Ints7
|
UTSW |
1 |
191,345,169 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1680:Ints7
|
UTSW |
1 |
191,353,274 (GRCm39) |
splice site |
probably null |
|
|
R1781:Ints7
|
UTSW |
1 |
191,328,396 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2141:Ints7
|
UTSW |
1 |
191,336,972 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2291:Ints7
|
UTSW |
1 |
191,338,315 (GRCm39) |
splice site |
probably null |
|
|
R4718:Ints7
|
UTSW |
1 |
191,315,389 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4741:Ints7
|
UTSW |
1 |
191,351,747 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4797:Ints7
|
UTSW |
1 |
191,329,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4812:Ints7
|
UTSW |
1 |
191,326,542 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4826:Ints7
|
UTSW |
1 |
191,344,018 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4870:Ints7
|
UTSW |
1 |
191,328,443 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5169:Ints7
|
UTSW |
1 |
191,345,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5281:Ints7
|
UTSW |
1 |
191,347,883 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5694:Ints7
|
UTSW |
1 |
191,318,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5752:Ints7
|
UTSW |
1 |
191,308,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6048:Ints7
|
UTSW |
1 |
191,353,524 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6341:Ints7
|
UTSW |
1 |
191,345,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6419:Ints7
|
UTSW |
1 |
191,334,414 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7037:Ints7
|
UTSW |
1 |
191,351,717 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7163:Ints7
|
UTSW |
1 |
191,349,949 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7603:Ints7
|
UTSW |
1 |
191,328,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7801:Ints7
|
UTSW |
1 |
191,347,859 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7899:Ints7
|
UTSW |
1 |
191,353,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8034:Ints7
|
UTSW |
1 |
191,345,183 (GRCm39) |
frame shift |
probably null |
|
|
R8034:Ints7
|
UTSW |
1 |
191,345,180 (GRCm39) |
frame shift |
probably null |
|
|
R8231:Ints7
|
UTSW |
1 |
191,328,465 (GRCm39) |
nonsense |
probably null |
|
|
R8251:Ints7
|
UTSW |
1 |
191,353,545 (GRCm39) |
missense |
unknown |
|
|
R8966:Ints7
|
UTSW |
1 |
191,351,717 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9198:Ints7
|
UTSW |
1 |
191,351,872 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9382:Ints7
|
UTSW |
1 |
191,351,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ints7
|
UTSW |
1 |
191,342,570 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGTCCTCCTGTATAAGTTAG -3'
(R):5'- CCCTGAAGAAACAATTTCGCTC -3'
Sequencing Primer
(F):5'- CTCCTGTGCTTTTTCAATAGG -3'
(R):5'- TGAAGAAACAATTTCGCTCTGAACC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation