Incidental Mutation 'R8231:Ints7'
ID |
637128 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ints7
|
Ensembl Gene |
ENSMUSG00000037461 |
Gene Name |
integrator complex subunit 7 |
Synonyms |
5930412E23Rik |
MMRRC Submission |
067663-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.952)
|
Stock # |
R8231 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
191307748-191355800 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 191328465 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 246
(L246*)
|
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 null
Transcript: ENSMUST00000045450
AA Change: L246*
|
SMART Domains |
Protein: ENSMUSP00000036277 Gene: ENSMUSG00000037461 AA Change: L246*
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
Validation Efficiency |
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
C |
T |
17: 85,000,213 (GRCm39) |
R258C |
probably damaging |
Het |
Acsf2 |
C |
G |
11: 94,452,188 (GRCm39) |
E451D |
probably benign |
Het |
Adam34 |
A |
T |
8: 44,104,659 (GRCm39) |
S329T |
probably benign |
Het |
Adamts16 |
A |
G |
13: 70,925,599 (GRCm39) |
I535T |
probably damaging |
Het |
Atp6v0d2 |
A |
G |
4: 19,881,451 (GRCm39) |
F214S |
probably damaging |
Het |
Btg4 |
A |
G |
9: 51,027,868 (GRCm39) |
T13A |
possibly damaging |
Het |
Ccdc121 |
T |
A |
5: 31,643,551 (GRCm39) |
C94S |
probably benign |
Het |
Cplane1 |
T |
C |
15: 8,248,511 (GRCm39) |
Y1687H |
probably benign |
Het |
Csmd1 |
A |
T |
8: 16,747,939 (GRCm39) |
S271T |
possibly damaging |
Het |
Cul9 |
T |
C |
17: 46,831,427 (GRCm39) |
T1596A |
probably damaging |
Het |
Cyp2a4 |
G |
A |
7: 26,012,362 (GRCm39) |
D382N |
probably benign |
Het |
Dbh |
C |
T |
2: 27,060,555 (GRCm39) |
R244C |
probably benign |
Het |
Dennd11 |
A |
T |
6: 40,395,546 (GRCm39) |
H187Q |
probably benign |
Het |
Dnajc2 |
T |
C |
5: 21,966,689 (GRCm39) |
K426R |
probably benign |
Het |
Dock4 |
T |
A |
12: 40,752,950 (GRCm39) |
M428K |
possibly damaging |
Het |
Duox2 |
A |
T |
2: 122,120,044 (GRCm39) |
M822K |
possibly damaging |
Het |
Golga5 |
T |
C |
12: 102,438,558 (GRCm39) |
V91A |
probably benign |
Het |
Gpatch2l |
T |
C |
12: 86,290,963 (GRCm39) |
S49P |
probably damaging |
Het |
Kntc1 |
A |
G |
5: 123,920,959 (GRCm39) |
T926A |
possibly damaging |
Het |
Kyat1 |
T |
C |
2: 30,081,978 (GRCm39) |
T54A |
probably benign |
Het |
Megf6 |
C |
G |
4: 154,336,975 (GRCm39) |
C359W |
probably damaging |
Het |
Mlh3 |
A |
G |
12: 85,307,572 (GRCm39) |
|
probably null |
Het |
Neb |
C |
A |
2: 52,125,491 (GRCm39) |
|
probably null |
Het |
Nyap2 |
A |
T |
1: 81,169,846 (GRCm39) |
Q201L |
probably benign |
Het |
Pibf1 |
T |
G |
14: 99,423,997 (GRCm39) |
H523Q |
probably benign |
Het |
Piezo1 |
A |
G |
8: 123,232,836 (GRCm39) |
S133P |
|
Het |
Pnma8b |
T |
C |
7: 16,680,515 (GRCm39) |
C500R |
probably benign |
Het |
Ptpra |
A |
G |
2: 130,379,523 (GRCm39) |
N359S |
probably damaging |
Het |
Rce1 |
A |
T |
19: 4,675,078 (GRCm39) |
I112N |
probably damaging |
Het |
Rmdn1 |
T |
C |
4: 19,586,853 (GRCm39) |
Y104H |
probably benign |
Het |
Snx22 |
A |
T |
9: 65,975,480 (GRCm39) |
D96E |
probably benign |
Het |
Sox5 |
G |
T |
6: 143,974,014 (GRCm39) |
Q245K |
probably damaging |
Het |
Stat6 |
A |
G |
10: 127,482,842 (GRCm39) |
D21G |
possibly damaging |
Het |
Tbc1d15 |
T |
C |
10: 115,065,045 (GRCm39) |
Y180C |
probably damaging |
Het |
Tdrd6 |
T |
C |
17: 43,933,026 (GRCm39) |
T2058A |
probably damaging |
Het |
Thbs4 |
A |
T |
13: 92,911,352 (GRCm39) |
V277E |
probably benign |
Het |
Tmem255b |
A |
G |
8: 13,504,225 (GRCm39) |
D139G |
probably damaging |
Het |
Ttc27 |
C |
A |
17: 75,024,959 (GRCm39) |
T18K |
probably benign |
Het |
Zfp131 |
A |
G |
13: 120,237,348 (GRCm39) |
F337L |
probably damaging |
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 |
|
R8251:Ints7
|
UTSW |
1 |
191,353,545 (GRCm39) |
missense |
unknown |
|
R8520:Ints7
|
UTSW |
1 |
191,314,603 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- ACTCAGGCTTAGCTACACCG -3'
(R):5'- TGTCCTCCAGAGCTCACAAG -3'
Sequencing Primer
(F):5'- TTAGCTACACCGGTGGACCTG -3'
(R):5'- TCACAAGTATGAGAGAGAGAGAGAC -3'
|
Posted On |
2020-07-13 |