Incidental Mutation 'R5752:Ints7'
ID |
444824 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ints7
|
Ensembl Gene |
ENSMUSG00000037461 |
Gene Name |
integrator complex subunit 7 |
Synonyms |
5930412E23Rik |
MMRRC Submission |
043357-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.952)
|
Stock # |
R5752 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
191307748-191355800 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 191308005 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 12
(D12E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036277
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027933]
[ENSMUST00000045450]
[ENSMUST00000193569]
[ENSMUST00000193977]
[ENSMUST00000194785]
[ENSMUST00000194877]
[ENSMUST00000195650]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027933
|
SMART Domains |
Protein: ENSMUSP00000027933 Gene: ENSMUSG00000037474
Domain | Start | End | E-Value | Type |
Blast:WD40
|
30 |
80 |
1e-24 |
BLAST |
WD40
|
87 |
126 |
2.61e-3 |
SMART |
WD40
|
129 |
169 |
8.04e-4 |
SMART |
WD40
|
205 |
244 |
8.29e-1 |
SMART |
Blast:WD40
|
265 |
299 |
1e-11 |
BLAST |
WD40
|
304 |
345 |
1.29e-2 |
SMART |
WD40
|
349 |
389 |
1.07e-8 |
SMART |
low complexity region
|
427 |
454 |
N/A |
INTRINSIC |
low complexity region
|
476 |
495 |
N/A |
INTRINSIC |
low complexity region
|
505 |
521 |
N/A |
INTRINSIC |
low complexity region
|
630 |
645 |
N/A |
INTRINSIC |
low complexity region
|
674 |
690 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000045450
AA Change: D12E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000036277 Gene: ENSMUSG00000037461 AA Change: D12E
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: ENSMUST00000192014
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192681
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193569
AA Change: D12E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193961
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193977
|
SMART Domains |
Protein: ENSMUSP00000142111 Gene: ENSMUSG00000037474
Domain | Start | End | E-Value | Type |
Blast:WD40
|
30 |
80 |
1e-26 |
BLAST |
SCOP:d1e1aa_
|
65 |
108 |
6e-5 |
SMART |
Blast:WD40
|
87 |
113 |
6e-13 |
BLAST |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000194785
AA Change: D12E
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194877
AA Change: D12E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194064
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195765
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195650
|
SMART Domains |
Protein: ENSMUSP00000141218 Gene: ENSMUSG00000037474
Domain | Start | End | E-Value | Type |
Blast:WD40
|
30 |
80 |
2e-26 |
BLAST |
WD40
|
87 |
126 |
1.6e-5 |
SMART |
Blast:WD40
|
129 |
154 |
7e-10 |
BLAST |
|
Meta Mutation Damage Score |
0.0843 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
98% (58/59) |
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 |
A330017A19Rik |
C |
A |
17: 47,200,966 (GRCm39) |
|
probably benign |
Het |
Aldh1l2 |
C |
A |
10: 83,356,244 (GRCm39) |
G49C |
probably damaging |
Het |
Arhgap26 |
G |
A |
18: 39,419,725 (GRCm39) |
E11K |
probably damaging |
Het |
Asns |
C |
T |
6: 7,689,365 (GRCm39) |
G46S |
probably damaging |
Het |
Atrn |
G |
T |
2: 130,748,464 (GRCm39) |
|
probably benign |
Het |
Cep126 |
A |
C |
9: 8,120,746 (GRCm39) |
Y92* |
probably null |
Het |
Cfap69 |
T |
C |
5: 5,639,204 (GRCm39) |
T567A |
probably damaging |
Het |
Clgn |
T |
A |
8: 84,123,670 (GRCm39) |
Y61N |
probably damaging |
Het |
Col28a1 |
T |
G |
6: 8,015,025 (GRCm39) |
K793N |
possibly damaging |
Het |
Cxcl9 |
C |
A |
5: 92,471,715 (GRCm39) |
M108I |
probably benign |
Het |
Cyp4f37 |
A |
T |
17: 32,850,306 (GRCm39) |
I318F |
probably damaging |
Het |
Daam1 |
T |
C |
12: 71,993,320 (GRCm39) |
M363T |
unknown |
Het |
Dnajc13 |
A |
C |
9: 104,069,973 (GRCm39) |
|
probably null |
Het |
Entpd2 |
G |
A |
2: 25,289,781 (GRCm39) |
|
probably benign |
Het |
F3 |
T |
A |
3: 121,526,053 (GRCm39) |
N205K |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,180,063 (GRCm39) |
F1426Y |
possibly damaging |
Het |
Galnt6 |
A |
T |
15: 100,602,007 (GRCm39) |
F267I |
probably damaging |
Het |
Gm1322 |
G |
A |
2: 67,014,979 (GRCm39) |
|
noncoding transcript |
Het |
Hdgfl3 |
A |
C |
7: 81,549,451 (GRCm39) |
S143A |
possibly damaging |
Het |
Kank3 |
A |
G |
17: 34,037,037 (GRCm39) |
T114A |
probably benign |
Het |
Lrp1b |
A |
G |
2: 41,185,624 (GRCm39) |
Y1364H |
probably damaging |
Het |
Mef2b |
A |
G |
8: 70,618,267 (GRCm39) |
T116A |
possibly damaging |
Het |
Megf8 |
C |
T |
7: 25,054,539 (GRCm39) |
T1885I |
probably damaging |
Het |
Mrps11 |
A |
G |
7: 78,433,343 (GRCm39) |
K30E |
probably benign |
Het |
Naca |
T |
A |
10: 127,877,797 (GRCm39) |
|
probably benign |
Het |
Ncoa4-ps |
A |
G |
12: 119,226,349 (GRCm39) |
|
noncoding transcript |
Het |
Nhsl3 |
GGTG |
GGTGTG |
4: 129,117,773 (GRCm39) |
|
probably null |
Het |
Or2at1 |
T |
C |
7: 99,417,155 (GRCm39) |
I262T |
probably benign |
Het |
Paip2b |
C |
T |
6: 83,808,252 (GRCm39) |
|
probably null |
Het |
Plcb2 |
G |
T |
2: 118,541,532 (GRCm39) |
|
probably benign |
Het |
Plcd4 |
A |
G |
1: 74,587,131 (GRCm39) |
|
probably null |
Het |
Pnpla8 |
A |
G |
12: 44,329,670 (GRCm39) |
N74S |
probably benign |
Het |
Pot1b |
A |
T |
17: 55,994,834 (GRCm39) |
I276N |
probably damaging |
Het |
Qprt |
C |
T |
7: 126,708,416 (GRCm39) |
G5D |
probably benign |
Het |
Rab11fip1 |
T |
C |
8: 27,646,614 (GRCm39) |
N154S |
probably damaging |
Het |
Rin3 |
G |
A |
12: 102,279,378 (GRCm39) |
|
probably benign |
Het |
Sdf4 |
C |
T |
4: 156,080,761 (GRCm39) |
P37S |
probably damaging |
Het |
Selp |
A |
T |
1: 163,964,811 (GRCm39) |
D491V |
probably damaging |
Het |
Sh3gl3 |
A |
G |
7: 81,824,696 (GRCm39) |
|
probably benign |
Het |
Sp110 |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
Spata31d1e |
T |
C |
13: 59,891,016 (GRCm39) |
Y268C |
probably damaging |
Het |
Tas2r134 |
A |
G |
2: 51,517,880 (GRCm39) |
R120G |
probably damaging |
Het |
Tgfbr3 |
T |
C |
5: 107,287,673 (GRCm39) |
R509G |
probably benign |
Het |
Tle3 |
T |
A |
9: 61,314,753 (GRCm39) |
Y231N |
probably damaging |
Het |
Top6bl |
C |
A |
19: 4,676,048 (GRCm39) |
A695S |
probably benign |
Het |
Ttc41 |
C |
T |
10: 86,594,210 (GRCm39) |
T881I |
probably benign |
Het |
Ttll8 |
T |
C |
15: 88,816,931 (GRCm39) |
Y271C |
probably benign |
Het |
Ttn |
A |
T |
2: 76,778,328 (GRCm39) |
I1307K |
possibly damaging |
Het |
Ube2k |
A |
G |
5: 65,723,411 (GRCm39) |
D48G |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,828,069 (GRCm39) |
T3126A |
probably damaging |
Het |
Vps13d |
T |
C |
4: 144,875,540 (GRCm39) |
T1656A |
probably benign |
Het |
Zzz3 |
C |
A |
3: 152,157,759 (GRCm39) |
S777R |
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 |
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 |
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'- AACCCAAGGTTCACAGGCTC -3'
(R):5'- CTCCAACTGTGCAAGGCTAC -3'
Sequencing Primer
(F):5'- CCAGAGAGGAACTGGCGAACC -3'
(R):5'- ACTGTGCAAGGCTACTCCAG -3'
|
Posted On |
2016-11-21 |