Incidental Mutation 'R4797:Ints7'
ID |
369107 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ints7
|
Ensembl Gene |
ENSMUSG00000037461 |
Gene Name |
integrator complex subunit 7 |
Synonyms |
5930412E23Rik |
MMRRC Submission |
042421-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.952)
|
Stock # |
R4797 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
191307748-191355800 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 191329045 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 268
(V268A)
|
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: V268A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036277 Gene: ENSMUSG00000037461 AA Change: V268A
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 |
noncoding transcript
Transcript: ENSMUST00000193961
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194205
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194785
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194877
|
Meta Mutation Damage Score |
0.2787 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
Validation Efficiency |
96% (69/72) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
C |
11: 110,008,945 (GRCm39) |
T1195A |
probably benign |
Het |
Apobr |
G |
A |
7: 126,186,756 (GRCm39) |
E756K |
probably benign |
Het |
Arpc3 |
A |
G |
5: 122,542,215 (GRCm39) |
E77G |
possibly damaging |
Het |
Atp2b2 |
A |
T |
6: 113,766,847 (GRCm39) |
M464K |
possibly damaging |
Het |
Atxn7l2 |
A |
G |
3: 108,111,866 (GRCm39) |
S379P |
probably damaging |
Het |
Ccdc91 |
A |
T |
6: 147,493,641 (GRCm39) |
E344D |
unknown |
Het |
Cdc42bpg |
G |
A |
19: 6,370,477 (GRCm39) |
R1190Q |
probably damaging |
Het |
Cdh17 |
C |
A |
4: 11,810,390 (GRCm39) |
Q694K |
probably benign |
Het |
Chordc1 |
G |
T |
9: 18,203,672 (GRCm39) |
|
probably benign |
Het |
Copg1 |
A |
G |
6: 87,880,450 (GRCm39) |
|
probably benign |
Het |
Dcbld1 |
T |
C |
10: 52,160,223 (GRCm39) |
V37A |
probably damaging |
Het |
Ddb2 |
A |
G |
2: 91,067,163 (GRCm39) |
|
probably benign |
Het |
Dok5 |
A |
T |
2: 170,672,042 (GRCm39) |
R115* |
probably null |
Het |
Drc7 |
T |
C |
8: 95,800,925 (GRCm39) |
I649T |
probably damaging |
Het |
Efr3a |
A |
G |
15: 65,729,437 (GRCm39) |
T713A |
probably damaging |
Het |
Epg5 |
G |
A |
18: 78,073,614 (GRCm39) |
D2494N |
probably benign |
Het |
Eps15 |
G |
A |
4: 109,223,727 (GRCm39) |
|
probably benign |
Het |
Glb1l3 |
T |
C |
9: 26,739,742 (GRCm39) |
D356G |
probably damaging |
Het |
Gm1818 |
A |
T |
12: 48,602,393 (GRCm39) |
|
noncoding transcript |
Het |
Gsta5 |
A |
T |
9: 78,211,679 (GRCm39) |
Y147F |
probably benign |
Het |
Hcrtr2 |
C |
A |
9: 76,161,816 (GRCm39) |
M191I |
probably damaging |
Het |
Heatr1 |
G |
A |
13: 12,426,929 (GRCm39) |
E685K |
probably benign |
Het |
Hsd3b2 |
A |
T |
3: 98,618,979 (GRCm39) |
L322Q |
probably damaging |
Het |
Hsd3b9 |
T |
A |
3: 98,363,747 (GRCm39) |
R62* |
probably null |
Het |
Htra4 |
T |
C |
8: 25,523,675 (GRCm39) |
T297A |
probably damaging |
Het |
Il22 |
C |
A |
10: 118,041,058 (GRCm39) |
R55S |
probably damaging |
Het |
Ints1 |
G |
A |
5: 139,757,631 (GRCm39) |
T324M |
possibly damaging |
Het |
Ints15 |
A |
G |
5: 143,297,504 (GRCm39) |
F181S |
probably benign |
Het |
Kctd20 |
G |
A |
17: 29,185,766 (GRCm39) |
V370I |
probably damaging |
Het |
Lama1 |
T |
A |
17: 68,023,770 (GRCm39) |
M55K |
probably benign |
Het |
Larp1 |
C |
A |
11: 57,938,806 (GRCm39) |
S494* |
probably null |
Het |
Ldb3 |
A |
T |
14: 34,277,470 (GRCm39) |
H262Q |
possibly damaging |
Het |
Lepr |
C |
A |
4: 101,637,244 (GRCm39) |
T711K |
possibly damaging |
Het |
Mon2 |
T |
C |
10: 122,852,422 (GRCm39) |
I984V |
probably benign |
Het |
Naip2 |
T |
A |
13: 100,298,243 (GRCm39) |
S598C |
probably damaging |
Het |
Oasl1 |
A |
G |
5: 115,066,217 (GRCm39) |
M112V |
probably benign |
Het |
Or2d2b |
A |
T |
7: 106,705,234 (GRCm39) |
M278K |
probably benign |
Het |
Or6c214 |
A |
T |
10: 129,590,390 (GRCm39) |
S310T |
probably benign |
Het |
Or7c19 |
G |
T |
8: 85,957,567 (GRCm39) |
A148S |
probably benign |
Het |
P2ry1 |
T |
A |
3: 60,910,881 (GRCm39) |
S7T |
probably benign |
Het |
Pidd1 |
G |
T |
7: 141,022,899 (GRCm39) |
R98S |
possibly damaging |
Het |
Pkd1l1 |
A |
C |
11: 8,911,340 (GRCm39) |
F312L |
unknown |
Het |
Pla2r1 |
A |
T |
2: 60,334,524 (GRCm39) |
M416K |
possibly damaging |
Het |
Pold1 |
T |
C |
7: 44,191,325 (GRCm39) |
E194G |
possibly damaging |
Het |
Poldip2 |
T |
A |
11: 78,404,813 (GRCm39) |
Y77N |
probably damaging |
Het |
Ppp2r3d |
G |
T |
9: 101,089,179 (GRCm39) |
N381K |
probably benign |
Het |
Prrc2a |
G |
A |
17: 35,369,018 (GRCm39) |
P2006L |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rsu1 |
A |
G |
2: 13,221,537 (GRCm39) |
|
probably benign |
Het |
Selenoi |
T |
A |
5: 30,457,740 (GRCm39) |
W90R |
probably damaging |
Het |
Spag17 |
T |
A |
3: 99,891,795 (GRCm39) |
D216E |
possibly damaging |
Het |
Spata31 |
C |
A |
13: 65,070,556 (GRCm39) |
Y901* |
probably null |
Het |
Ssrp1 |
T |
A |
2: 84,876,066 (GRCm39) |
Y607* |
probably null |
Het |
Stk10 |
T |
A |
11: 32,548,471 (GRCm39) |
N346K |
probably benign |
Het |
Surf1 |
G |
T |
2: 26,806,358 (GRCm39) |
|
probably benign |
Het |
Synj2 |
A |
T |
17: 6,084,163 (GRCm39) |
E283V |
probably damaging |
Het |
Tg |
G |
A |
15: 66,629,855 (GRCm39) |
|
probably null |
Het |
Traf1 |
A |
T |
2: 34,846,289 (GRCm39) |
D42E |
probably benign |
Het |
Ttn |
T |
C |
2: 76,571,209 (GRCm39) |
I26561M |
probably damaging |
Het |
Ubp1 |
T |
C |
9: 113,785,070 (GRCm39) |
Y128H |
probably damaging |
Het |
Vmn1r216 |
T |
A |
13: 23,283,506 (GRCm39) |
I63K |
probably benign |
Het |
Vmn1r49 |
T |
A |
6: 90,049,612 (GRCm39) |
H130L |
probably benign |
Het |
Vmn2r90 |
C |
T |
17: 17,932,567 (GRCm39) |
T158I |
probably damaging |
Het |
Vps13d |
T |
C |
4: 144,780,725 (GRCm39) |
S885G |
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 |
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 |
|
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'- AGCTGCTAGTGAGAGCTCTGAG -3'
(R):5'- ACAGGGATGTCACTCTGGTTTG -3'
Sequencing Primer
(F):5'- TCTGAGCTACAGGGAGTCCATTC -3'
(R):5'- ATGTCACTCTGGTTTGAGTTCATC -3'
|
Posted On |
2016-02-04 |