Incidental Mutation 'R5694:Ints7'
ID |
443800 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ints7
|
Ensembl Gene |
ENSMUSG00000037461 |
Gene Name |
integrator complex subunit 7 |
Synonyms |
5930412E23Rik |
MMRRC Submission |
043325-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.952)
|
Stock # |
R5694 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
191307748-191355800 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 191318730 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 156
(E156K)
|
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: E156K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036277 Gene: ENSMUSG00000037461 AA Change: E156K
Domain | Start | End | E-Value | Type |
SCOP:d1gw5a_
|
76 |
530 |
1e-10 |
SMART |
low complexity region
|
937 |
960 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192681
|
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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
A |
T |
6: 142,546,673 (GRCm39) |
I1353N |
probably damaging |
Het |
Actr1a |
C |
A |
19: 46,384,157 (GRCm39) |
|
probably benign |
Het |
Adamts14 |
A |
T |
10: 61,065,431 (GRCm39) |
M356K |
probably benign |
Het |
Adamtsl2 |
A |
G |
2: 26,971,736 (GRCm39) |
H7R |
probably benign |
Het |
Angptl2 |
T |
C |
2: 33,118,628 (GRCm39) |
V134A |
probably damaging |
Het |
Armc8 |
A |
G |
9: 99,378,202 (GRCm39) |
|
probably null |
Het |
Astn2 |
T |
C |
4: 65,868,375 (GRCm39) |
D488G |
probably damaging |
Het |
Cat |
A |
T |
2: 103,303,339 (GRCm39) |
V146E |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 50,027,324 (GRCm39) |
V2144A |
probably damaging |
Het |
Efcab5 |
T |
G |
11: 77,079,701 (GRCm39) |
D15A |
probably benign |
Het |
Epha10 |
C |
T |
4: 124,796,446 (GRCm39) |
A385V |
unknown |
Het |
Erg |
C |
A |
16: 95,161,890 (GRCm39) |
E388D |
probably benign |
Het |
Fbxo10 |
T |
A |
4: 45,035,970 (GRCm39) |
I931F |
probably damaging |
Het |
Frem1 |
A |
G |
4: 82,912,353 (GRCm39) |
L673P |
probably damaging |
Het |
Gm4922 |
A |
C |
10: 18,660,035 (GRCm39) |
I229S |
possibly damaging |
Het |
Gnptab |
T |
A |
10: 88,250,348 (GRCm39) |
D153E |
probably benign |
Het |
Htr7 |
T |
C |
19: 36,034,521 (GRCm39) |
M45V |
probably benign |
Het |
Hycc1 |
C |
A |
5: 24,196,794 (GRCm39) |
L31F |
probably damaging |
Het |
Igkv4-51 |
C |
T |
6: 69,658,911 (GRCm39) |
V5M |
probably damaging |
Het |
Map3k21 |
A |
G |
8: 126,671,507 (GRCm39) |
T932A |
probably benign |
Het |
Mapk1 |
T |
G |
16: 16,836,333 (GRCm39) |
D160E |
probably benign |
Het |
Mast4 |
A |
T |
13: 102,910,701 (GRCm39) |
Y479* |
probably null |
Het |
Meig1 |
T |
A |
2: 3,412,999 (GRCm39) |
K7N |
probably damaging |
Het |
Mthfd1l |
T |
A |
10: 3,985,239 (GRCm39) |
D548E |
possibly damaging |
Het |
Myo16 |
A |
G |
8: 10,619,606 (GRCm39) |
R1386G |
probably benign |
Het |
Nphs2 |
T |
C |
1: 156,153,607 (GRCm39) |
S353P |
probably benign |
Het |
Or12j4 |
T |
C |
7: 140,046,644 (GRCm39) |
F177L |
probably benign |
Het |
Or8b1 |
T |
A |
9: 38,399,532 (GRCm39) |
I69K |
probably damaging |
Het |
Pcdha9 |
G |
T |
18: 37,131,425 (GRCm39) |
V165L |
probably benign |
Het |
Pde3a |
T |
A |
6: 141,196,228 (GRCm39) |
S305T |
possibly damaging |
Het |
Phf14 |
C |
A |
6: 11,990,124 (GRCm39) |
L718I |
possibly damaging |
Het |
Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
Rab44 |
T |
A |
17: 29,364,940 (GRCm39) |
M645K |
unknown |
Het |
Rab44 |
T |
C |
17: 29,359,474 (GRCm39) |
L554P |
probably damaging |
Het |
Rnf222 |
A |
G |
11: 68,783,723 (GRCm39) |
T97A |
probably benign |
Het |
Rnpepl1 |
T |
C |
1: 92,846,663 (GRCm39) |
S522P |
probably benign |
Het |
Serinc5 |
A |
G |
13: 92,825,302 (GRCm39) |
I244V |
probably benign |
Het |
Serpinb10 |
A |
T |
1: 107,463,187 (GRCm39) |
|
probably null |
Het |
Siglech |
T |
A |
7: 55,418,404 (GRCm39) |
F124Y |
probably damaging |
Het |
Smarcc2 |
A |
T |
10: 128,319,996 (GRCm39) |
I790L |
probably benign |
Het |
Sos2 |
C |
A |
12: 69,637,689 (GRCm39) |
R1007S |
probably damaging |
Het |
Stk4 |
C |
T |
2: 163,942,484 (GRCm39) |
T372M |
possibly damaging |
Het |
Tbc1d10c |
A |
T |
19: 4,234,963 (GRCm39) |
L366H |
probably damaging |
Het |
Tor4a |
T |
C |
2: 25,084,932 (GRCm39) |
T324A |
probably benign |
Het |
Trim12a |
C |
A |
7: 103,956,450 (GRCm39) |
C30F |
probably damaging |
Het |
Ttll3 |
G |
A |
6: 113,376,669 (GRCm39) |
V350M |
probably damaging |
Het |
Uggt1 |
A |
T |
1: 36,218,737 (GRCm39) |
D63E |
probably damaging |
Het |
Unc5b |
G |
A |
10: 60,609,526 (GRCm39) |
T590I |
probably benign |
Het |
Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
Wls |
A |
C |
3: 159,545,624 (GRCm39) |
I16L |
probably benign |
Het |
Zfp101 |
T |
C |
17: 33,599,919 (GRCm39) |
I612M |
probably benign |
Het |
Zfp677 |
C |
A |
17: 21,618,021 (GRCm39) |
D359E |
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 |
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'- TGGGTTGATAATCTAGCTTACCTTCC -3'
(R):5'- GTCCTTGTCTTTTGGGAATCAAC -3'
Sequencing Primer
(F):5'- GATAATCTAGCTTACCTTCCTTTTCC -3'
(R):5'- CCTTGTCTTTTGGGAATCAACATTTG -3'
|
Posted On |
2016-11-09 |