Incidental Mutation 'R5281:Ints7'
| ID |
402764 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints7
|
| Ensembl Gene |
ENSMUSG00000037461 |
| Gene Name |
integrator complex subunit 7 |
| Synonyms |
5930412E23Rik |
| MMRRC Submission |
042866-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R5281 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
191307748-191355800 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 191347883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 752
(Y752H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045450]
[ENSMUST00000194785]
[ENSMUST00000194877]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045450
AA Change: Y752H
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000036277
Gene: ENSMUSG00000037461
AA Change: Y752H
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
A |
G |
7: 82,178,142 (GRCm39) |
H535R |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,263,115 (GRCm39) |
E45G |
probably damaging |
Het |
| Ano10 |
A |
G |
9: 122,090,552 (GRCm39) |
S254P |
probably damaging |
Het |
| Arhgap21 |
T |
A |
2: 20,854,127 (GRCm39) |
E1745V |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,145,163 (GRCm39) |
L1302P |
probably damaging |
Het |
| Btn2a2 |
A |
G |
13: 23,663,002 (GRCm39) |
V316A |
probably damaging |
Het |
| C2cd4c |
G |
A |
10: 79,448,878 (GRCm39) |
P90S |
probably benign |
Het |
| Cant1 |
A |
T |
11: 118,299,696 (GRCm39) |
W255R |
probably damaging |
Het |
| Cenpe |
A |
C |
3: 134,935,911 (GRCm39) |
K449Q |
possibly damaging |
Het |
| Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
| Dmbt1 |
T |
C |
7: 130,684,349 (GRCm39) |
V615A |
probably damaging |
Het |
| Dnajc5b |
T |
C |
3: 19,664,724 (GRCm39) |
V174A |
probably benign |
Het |
| Dst |
C |
A |
1: 34,296,863 (GRCm39) |
H5751N |
probably benign |
Het |
| Eif2d |
A |
G |
1: 131,101,080 (GRCm39) |
E562G |
probably damaging |
Het |
| Epha10 |
A |
T |
4: 124,807,781 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
C |
T |
1: 77,351,504 (GRCm39) |
G917D |
probably benign |
Het |
| Fap |
C |
T |
2: 62,363,305 (GRCm39) |
|
probably null |
Het |
| Fsd2 |
T |
C |
7: 81,202,733 (GRCm39) |
E282G |
probably benign |
Het |
| Gls |
A |
T |
1: 52,230,316 (GRCm39) |
M136K |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gusb |
T |
C |
5: 130,027,367 (GRCm39) |
T313A |
probably benign |
Het |
| Krt17 |
G |
A |
11: 100,151,527 (GRCm39) |
Q89* |
probably null |
Het |
| Mfsd4b4 |
T |
C |
10: 39,768,467 (GRCm39) |
I209V |
probably benign |
Het |
| Nr0b2 |
A |
G |
4: 133,283,335 (GRCm39) |
I191V |
probably benign |
Het |
| Or51af1 |
T |
C |
7: 103,141,180 (GRCm39) |
I302V |
probably benign |
Het |
| Pcdhb21 |
T |
C |
18: 37,646,988 (GRCm39) |
M39T |
probably benign |
Het |
| Pds5b |
T |
G |
5: 150,670,073 (GRCm39) |
Y354D |
probably benign |
Het |
| She |
A |
G |
3: 89,756,888 (GRCm39) |
D314G |
probably benign |
Het |
| Shpk |
T |
C |
11: 73,105,946 (GRCm39) |
M266T |
probably benign |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slfn4 |
T |
G |
11: 83,078,025 (GRCm39) |
V271G |
probably damaging |
Het |
| Slitrk6 |
C |
T |
14: 110,987,805 (GRCm39) |
R634H |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,750,313 (GRCm39) |
F1555L |
probably benign |
Het |
| Vldlr |
A |
C |
19: 27,221,631 (GRCm39) |
E665D |
probably benign |
Het |
| Whrn |
T |
C |
4: 63,336,664 (GRCm39) |
T633A |
probably benign |
Het |
| Xylt2 |
A |
G |
11: 94,559,616 (GRCm39) |
V342A |
probably benign |
Het |
| Zfp800 |
A |
T |
6: 28,243,165 (GRCm39) |
V600E |
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 |
|
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'- TGGTGACAAATAGCCTTCATGTG -3'
(R):5'- TGCTGGGATTAAAGGAGTGC -3'
Sequencing Primer
(F):5'- GACAAATAGCCTTCATGTGAATAGC -3'
(R):5'- TTAAAGGAGTGCGCCACC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation