Incidental Mutation 'R0294:Ints7'
ID |
26263 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ints7
|
Ensembl Gene |
ENSMUSG00000037461 |
Gene Name |
integrator complex subunit 7 |
Synonyms |
5930412E23Rik |
MMRRC Submission |
038511-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.952)
|
Stock # |
R0294 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
191307748-191355800 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 191344003 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 548
(S548G)
|
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 |
possibly damaging
Transcript: ENSMUST00000045450
AA Change: S548G
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000036277 Gene: ENSMUSG00000037461 AA Change: S548G
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 |
probably benign
Transcript: ENSMUST00000194785
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194877
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 95.4%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930527J03Rik |
ACCC |
ACC |
1: 178,276,503 (GRCm38) |
|
noncoding transcript |
Het |
Aadat |
A |
G |
8: 60,987,642 (GRCm39) |
E319G |
possibly damaging |
Het |
Abca13 |
A |
G |
11: 9,219,122 (GRCm39) |
|
probably null |
Het |
Actl7b |
A |
T |
4: 56,740,848 (GRCm39) |
L170Q |
possibly damaging |
Het |
Adam29 |
C |
A |
8: 56,326,311 (GRCm39) |
V48L |
probably benign |
Het |
Aknad1 |
A |
G |
3: 108,682,508 (GRCm39) |
Y528C |
probably damaging |
Het |
Alas1 |
T |
A |
9: 106,118,455 (GRCm39) |
K222N |
probably damaging |
Het |
Aplf |
A |
G |
6: 87,623,227 (GRCm39) |
V284A |
probably benign |
Het |
Atp11a |
G |
A |
8: 12,877,524 (GRCm39) |
V317M |
probably benign |
Het |
Bub3 |
A |
G |
7: 131,169,953 (GRCm39) |
E206G |
possibly damaging |
Het |
Cblb |
T |
G |
16: 51,956,187 (GRCm39) |
F263L |
probably damaging |
Het |
Ces2h |
T |
A |
8: 105,743,236 (GRCm39) |
M157K |
probably benign |
Het |
Cfh |
A |
G |
1: 140,110,999 (GRCm39) |
F6L |
probably benign |
Het |
Chst1 |
G |
T |
2: 92,443,987 (GRCm39) |
R153L |
probably damaging |
Het |
Cimap2 |
T |
C |
4: 106,470,361 (GRCm39) |
D232G |
probably damaging |
Het |
Cntnap5a |
T |
A |
1: 115,843,046 (GRCm39) |
N121K |
probably benign |
Het |
Crybg1 |
A |
T |
10: 43,862,372 (GRCm39) |
S1467R |
probably damaging |
Het |
Cyp2d22 |
A |
G |
15: 82,258,646 (GRCm39) |
F72L |
possibly damaging |
Het |
Dmrt2 |
C |
T |
19: 25,655,435 (GRCm39) |
P345S |
probably damaging |
Het |
Dock8 |
T |
C |
19: 25,165,714 (GRCm39) |
I1866T |
probably damaging |
Het |
Egfem1 |
A |
G |
3: 29,744,270 (GRCm39) |
N503S |
probably damaging |
Het |
Ehbp1 |
T |
C |
11: 22,045,427 (GRCm39) |
D774G |
probably benign |
Het |
Foxp2 |
C |
A |
6: 15,376,773 (GRCm39) |
|
probably benign |
Het |
Gins3 |
T |
C |
8: 96,364,547 (GRCm39) |
V99A |
possibly damaging |
Het |
Grm1 |
A |
T |
10: 10,956,143 (GRCm39) |
I47N |
probably damaging |
Het |
H2aj |
C |
G |
6: 136,785,602 (GRCm39) |
R89G |
probably damaging |
Het |
Hsdl2 |
T |
A |
4: 59,601,408 (GRCm39) |
S127T |
probably benign |
Het |
Il5ra |
A |
T |
6: 106,689,362 (GRCm39) |
M410K |
probably benign |
Het |
Kcnt1 |
A |
G |
2: 25,778,122 (GRCm39) |
E80G |
probably damaging |
Het |
Lgr6 |
T |
A |
1: 135,032,799 (GRCm39) |
Q27L |
unknown |
Het |
Lgr6 |
A |
G |
1: 134,915,629 (GRCm39) |
V373A |
probably damaging |
Het |
Map3k14 |
T |
C |
11: 103,117,963 (GRCm39) |
I610V |
possibly damaging |
Het |
Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
Metap1d |
T |
A |
2: 71,352,889 (GRCm39) |
H239Q |
probably benign |
Het |
Mgst2 |
A |
G |
3: 51,589,251 (GRCm39) |
Y88C |
probably damaging |
Het |
Mroh4 |
T |
C |
15: 74,477,998 (GRCm39) |
N903D |
probably benign |
Het |
Nbeal2 |
T |
G |
9: 110,461,927 (GRCm39) |
D1476A |
probably damaging |
Het |
Nlgn1 |
C |
A |
3: 26,187,625 (GRCm39) |
A87S |
probably benign |
Het |
Nln |
C |
T |
13: 104,189,087 (GRCm39) |
G295S |
probably damaging |
Het |
Nnt |
T |
A |
13: 119,472,803 (GRCm39) |
Y719F |
probably benign |
Het |
Nnt |
T |
G |
13: 119,474,953 (GRCm39) |
I659L |
possibly damaging |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Or51b17 |
A |
T |
7: 103,542,137 (GRCm39) |
H268Q |
probably benign |
Het |
Or52s6 |
G |
A |
7: 103,092,291 (GRCm39) |
T13I |
possibly damaging |
Het |
Or5p78 |
A |
T |
7: 108,212,357 (GRCm39) |
Y281F |
probably damaging |
Het |
Or9g4 |
A |
G |
2: 85,505,060 (GRCm39) |
V145A |
probably damaging |
Het |
Otogl |
C |
T |
10: 107,613,089 (GRCm39) |
C2041Y |
probably damaging |
Het |
Patj |
G |
T |
4: 98,385,285 (GRCm39) |
D300Y |
probably damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,423,831 (GRCm39) |
E3124D |
probably benign |
Het |
Plbd2 |
A |
G |
5: 120,625,514 (GRCm39) |
|
probably null |
Het |
Pphln1 |
T |
C |
15: 93,318,171 (GRCm39) |
Y57H |
probably damaging |
Het |
Ppp1r16b |
C |
T |
2: 158,588,523 (GRCm39) |
T78M |
probably damaging |
Het |
Prss40 |
T |
G |
1: 34,595,162 (GRCm39) |
D224A |
possibly damaging |
Het |
Senp6 |
A |
G |
9: 80,021,007 (GRCm39) |
|
probably null |
Het |
Shank3 |
A |
G |
15: 89,416,301 (GRCm39) |
E666G |
probably damaging |
Het |
Slc13a1 |
T |
A |
6: 24,090,779 (GRCm39) |
I547F |
possibly damaging |
Het |
Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
Slc22a18 |
G |
A |
7: 143,046,578 (GRCm39) |
|
probably null |
Het |
Slc5a4b |
A |
G |
10: 75,917,161 (GRCm39) |
C292R |
probably damaging |
Het |
Spata31e5 |
T |
C |
1: 28,817,744 (GRCm39) |
Q96R |
probably benign |
Het |
Sphkap |
T |
A |
1: 83,255,966 (GRCm39) |
E594D |
possibly damaging |
Het |
Srpra |
T |
A |
9: 35,126,811 (GRCm39) |
M61K |
probably damaging |
Het |
Trmt10c |
A |
T |
16: 55,855,240 (GRCm39) |
Y132N |
possibly 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 |
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 |
|
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'- AGGAGCATAGACTGCAATGCTGAC -3'
(R):5'- GAGGCGATCCCTTTGTGGTAGAAC -3'
Sequencing Primer
(F):5'- AAGGTCCTGAGTGCCATTCAC -3'
(R):5'- CCCTTTGTGGTAGAACTTCAAAGAC -3'
|
Posted On |
2013-04-16 |