Incidental Mutation 'R8251:Ints7'
| ID |
640221 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints7
|
| Ensembl Gene |
ENSMUSG00000037461 |
| Gene Name |
integrator complex subunit 7 |
| Synonyms |
5930412E23Rik |
| MMRRC Submission |
067677-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R8251 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
191307748-191355800 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 191353545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 957
(P957L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045450]
[ENSMUST00000194785]
[ENSMUST00000194877]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000045450
AA Change: P957L
|
| SMART Domains |
Protein: ENSMUSP00000036277
Gene: ENSMUSG00000037461
AA Change: P957L
| 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: ENSMUST00000194785
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194877
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (50/50) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
A |
T |
9: 103,968,906 (GRCm39) |
D463V |
possibly damaging |
Het |
| Adamtsl4 |
C |
T |
3: 95,591,884 (GRCm39) |
R68Q |
probably damaging |
Het |
| Ankrd12 |
A |
T |
17: 66,291,554 (GRCm39) |
M1293K |
possibly damaging |
Het |
| Arhgap21 |
T |
C |
2: 20,854,221 (GRCm39) |
T1724A |
probably benign |
Het |
| C1qtnf12 |
T |
C |
4: 156,050,916 (GRCm39) |
I295T |
probably damaging |
Het |
| Cacna1s |
G |
T |
1: 136,014,461 (GRCm39) |
G623W |
probably damaging |
Het |
| Cemip2 |
T |
C |
19: 21,784,765 (GRCm39) |
V416A |
possibly damaging |
Het |
| Cenpe |
T |
A |
3: 134,957,445 (GRCm39) |
|
probably null |
Het |
| Cep85l |
A |
T |
10: 53,157,450 (GRCm39) |
I751N |
probably damaging |
Het |
| Corin |
T |
A |
5: 72,514,269 (GRCm39) |
D468V |
probably damaging |
Het |
| Ctsr |
A |
G |
13: 61,310,592 (GRCm39) |
V51A |
probably damaging |
Het |
| Dnah14 |
A |
C |
1: 181,492,430 (GRCm39) |
E1630A |
probably damaging |
Het |
| Dsg4 |
C |
A |
18: 20,604,221 (GRCm39) |
A896E |
probably damaging |
Het |
| Ear2 |
T |
C |
14: 44,340,477 (GRCm39) |
L45P |
probably benign |
Het |
| Fshr |
T |
G |
17: 89,507,913 (GRCm39) |
D43A |
probably benign |
Het |
| Gata6 |
G |
A |
18: 11,054,670 (GRCm39) |
G200S |
probably benign |
Het |
| Gnaq |
T |
A |
19: 16,312,419 (GRCm39) |
M227K |
probably damaging |
Het |
| Ifit1bl1 |
T |
C |
19: 34,572,232 (GRCm39) |
Q75R |
possibly damaging |
Het |
| Impg2 |
A |
G |
16: 56,079,960 (GRCm39) |
E479G |
possibly damaging |
Het |
| Jmjd1c |
T |
C |
10: 67,075,068 (GRCm39) |
V73A |
noncoding transcript |
Het |
| Kansl1 |
A |
G |
11: 104,315,186 (GRCm39) |
I284T |
probably benign |
Het |
| Kcnj9 |
A |
G |
1: 172,154,089 (GRCm39) |
S12P |
probably benign |
Het |
| Krt16 |
A |
G |
11: 100,139,196 (GRCm39) |
|
probably null |
Het |
| Lrguk |
A |
T |
6: 34,093,374 (GRCm39) |
T632S |
probably benign |
Het |
| Man2b1 |
G |
A |
8: 85,821,758 (GRCm39) |
V687M |
probably damaging |
Het |
| Mroh5 |
T |
C |
15: 73,655,002 (GRCm39) |
E653G |
probably benign |
Het |
| Nabp1 |
A |
T |
1: 51,516,737 (GRCm39) |
S44T |
probably benign |
Het |
| Nt5dc3 |
C |
A |
10: 86,656,091 (GRCm39) |
H256Q |
probably damaging |
Het |
| Or1j15 |
A |
C |
2: 36,459,467 (GRCm39) |
N286H |
probably damaging |
Het |
| Or4a81 |
A |
T |
2: 89,619,567 (GRCm39) |
I43N |
probably damaging |
Het |
| Or5p50 |
A |
G |
7: 107,421,776 (GRCm39) |
I300T |
probably damaging |
Het |
| Pkd2 |
T |
C |
5: 104,646,353 (GRCm39) |
V720A |
probably benign |
Het |
| Pnpla6 |
T |
A |
8: 3,582,399 (GRCm39) |
N706K |
probably benign |
Het |
| Polr1b |
C |
A |
2: 128,965,086 (GRCm39) |
P724Q |
probably damaging |
Het |
| Rbpjl |
A |
G |
2: 164,255,854 (GRCm39) |
E366G |
probably damaging |
Het |
| Runx1t1 |
A |
G |
4: 13,846,947 (GRCm39) |
T244A |
possibly damaging |
Het |
| Slitrk3 |
C |
T |
3: 72,956,729 (GRCm39) |
R681H |
possibly damaging |
Het |
| Slu7 |
A |
G |
11: 43,330,128 (GRCm39) |
Y185C |
probably damaging |
Het |
| Snupn |
T |
A |
9: 56,888,137 (GRCm39) |
F231L |
probably damaging |
Het |
| Srpk2 |
G |
A |
5: 23,729,266 (GRCm39) |
P458S |
probably benign |
Het |
| St3gal5 |
T |
A |
6: 72,126,144 (GRCm39) |
F330I |
probably benign |
Het |
| Taf3 |
T |
C |
2: 9,922,962 (GRCm39) |
D878G |
possibly damaging |
Het |
| Tex44 |
A |
G |
1: 86,354,936 (GRCm39) |
N282D |
probably benign |
Het |
| Tmem126a |
T |
C |
7: 90,100,094 (GRCm39) |
I150V |
probably benign |
Het |
| Trbv21 |
A |
G |
6: 41,179,540 (GRCm39) |
|
probably benign |
Het |
| Vmn2r70 |
A |
T |
7: 85,215,186 (GRCm39) |
L116* |
probably null |
Het |
| Vps36 |
A |
G |
8: 22,682,932 (GRCm39) |
T16A |
probably benign |
Het |
| Wdr17 |
C |
A |
8: 55,110,267 (GRCm39) |
G837W |
probably damaging |
Het |
| Zfp397 |
T |
C |
18: 24,093,361 (GRCm39) |
V282A |
probably benign |
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 |
|
|
R8231:Ints7
|
UTSW |
1 |
191,328,465 (GRCm39) |
nonsense |
probably null |
|
|
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'- ACAGCATCACAGTGGAGTC -3'
(R):5'- GCTGAGAGCCAGGTTATTTCTTACAC -3'
Sequencing Primer
(F):5'- CATCACAGTGGAGTCATCGGTG -3'
(R):5'- CAACAAAAACAACTTCACCAGAATG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation