Incidental Mutation 'R9382:Ints7'
| ID |
710080 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints7
|
| Ensembl Gene |
ENSMUSG00000037461 |
| Gene Name |
integrator complex subunit 7 |
| Synonyms |
5930412E23Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R9382 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
191307748-191355800 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 191351793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 834
(V834A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045450]
[ENSMUST00000194785]
[ENSMUST00000194877]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045450
AA Change: V834A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036277
Gene: ENSMUSG00000037461
AA Change: V834A
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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 |
|---|
| Abca8b |
G |
A |
11: 109,870,711 (GRCm39) |
S147L |
probably benign |
Het |
| Abraxas1 |
A |
G |
5: 100,957,649 (GRCm39) |
V190A |
probably benign |
Het |
| Aoc1l2 |
A |
T |
6: 48,907,298 (GRCm39) |
K99N |
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,104,501 (GRCm39) |
H559Q |
possibly damaging |
Het |
| Arhgap31 |
C |
T |
16: 38,422,988 (GRCm39) |
G1026D |
probably benign |
Het |
| C1ra |
T |
C |
6: 124,490,819 (GRCm39) |
F71L |
probably benign |
Het |
| C530025M09Rik |
T |
C |
2: 149,672,640 (GRCm39) |
H165R |
unknown |
Het |
| Celf2 |
A |
T |
2: 6,726,404 (GRCm39) |
M43K |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,706,961 (GRCm39) |
V1148A |
possibly damaging |
Het |
| Cmya5 |
T |
G |
13: 93,229,884 (GRCm39) |
K1735Q |
probably benign |
Het |
| Cntln |
A |
C |
4: 84,968,318 (GRCm39) |
M846L |
probably benign |
Het |
| Cntn5 |
T |
C |
9: 9,673,817 (GRCm39) |
T762A |
probably benign |
Het |
| Col11a1 |
T |
A |
3: 113,899,046 (GRCm39) |
L525Q |
unknown |
Het |
| Col12a1 |
T |
C |
9: 79,589,364 (GRCm39) |
T1064A |
probably benign |
Het |
| Cyc1 |
T |
C |
15: 76,229,273 (GRCm39) |
V211A |
possibly damaging |
Het |
| Ddx56 |
A |
G |
11: 6,215,516 (GRCm39) |
S296P |
probably damaging |
Het |
| Deptor |
A |
T |
15: 54,975,798 (GRCm39) |
|
probably benign |
Het |
| Ezh1 |
C |
T |
11: 101,094,265 (GRCm39) |
R409H |
possibly damaging |
Het |
| Fam228b |
T |
A |
12: 4,798,147 (GRCm39) |
E190V |
probably damaging |
Het |
| Fkbp15 |
A |
T |
4: 62,237,210 (GRCm39) |
L635H |
probably damaging |
Het |
| Frem1 |
G |
A |
4: 82,901,622 (GRCm39) |
L969F |
possibly damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,858,433 (GRCm39) |
R232G |
probably benign |
Het |
| Gpr26 |
G |
A |
7: 131,568,963 (GRCm39) |
D103N |
probably damaging |
Het |
| Grid2ip |
T |
G |
5: 143,361,103 (GRCm39) |
|
probably null |
Het |
| Kcnh7 |
T |
A |
2: 62,667,612 (GRCm39) |
H309L |
probably benign |
Het |
| Mael |
T |
C |
1: 166,053,282 (GRCm39) |
E241G |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,122,277 (GRCm39) |
E584V |
|
Het |
| Nexn |
C |
T |
3: 151,959,401 (GRCm39) |
V23M |
probably damaging |
Het |
| Npas1 |
T |
C |
7: 16,190,231 (GRCm39) |
|
probably null |
Het |
| Or51f1 |
T |
C |
7: 102,506,014 (GRCm39) |
I158M |
probably benign |
Het |
| Pcdh17 |
T |
G |
14: 84,685,522 (GRCm39) |
V663G |
probably damaging |
Het |
| Pga5 |
C |
T |
19: 10,646,897 (GRCm39) |
G303S |
probably damaging |
Het |
| Poln |
T |
A |
5: 34,164,842 (GRCm39) |
K844N |
probably damaging |
Het |
| Prkar1b |
C |
T |
5: 139,036,442 (GRCm39) |
D227N |
probably damaging |
Het |
| Proc |
T |
A |
18: 32,256,336 (GRCm39) |
I444F |
probably damaging |
Het |
| Ptprn |
G |
T |
1: 75,229,135 (GRCm39) |
H791N |
probably benign |
Het |
| Ror1 |
T |
C |
4: 100,191,709 (GRCm39) |
S160P |
probably benign |
Het |
| Satb2 |
T |
A |
1: 56,870,797 (GRCm39) |
|
probably null |
Het |
| Slc43a3 |
C |
T |
2: 84,780,771 (GRCm39) |
A332V |
probably benign |
Het |
| Sp100 |
G |
A |
1: 85,627,336 (GRCm39) |
V410M |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,217,346 (GRCm39) |
T989A |
probably benign |
Het |
| Ssc5d |
T |
C |
7: 4,930,283 (GRCm39) |
|
probably null |
Het |
| Tll2 |
A |
G |
19: 41,116,997 (GRCm39) |
Y273H |
probably benign |
Het |
| Tub |
T |
C |
7: 108,626,211 (GRCm39) |
V295A |
possibly damaging |
Het |
| Unc13b |
T |
A |
4: 43,172,512 (GRCm39) |
D1113E |
unknown |
Het |
| Usp9y |
C |
A |
Y: 1,364,776 (GRCm39) |
M1012I |
probably benign |
Het |
| Vmn1r238 |
A |
G |
18: 3,122,676 (GRCm39) |
V246A |
probably damaging |
Het |
| Vmn2r88 |
T |
G |
14: 51,656,197 (GRCm39) |
V802G |
|
Het |
| Wnt7b |
T |
C |
15: 85,443,175 (GRCm39) |
Q76R |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,389,917 (GRCm39) |
R4852G |
unknown |
Het |
| Zfp618 |
A |
T |
4: 63,051,258 (GRCm39) |
T680S |
probably damaging |
Het |
| Zfp784 |
T |
A |
7: 5,041,338 (GRCm39) |
D25V |
unknown |
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 |
|
|
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 |
|
Z1177:Ints7
|
UTSW |
1 |
191,342,570 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGGAGGTCCTTCTGCAG -3'
(R):5'- CCACTAACTGGTTCAAGCAAAG -3'
Sequencing Primer
(F):5'- ACAGTTAGGCCGTGGGGAC -3'
(R):5'- TGGCCAGATTTACTCTGC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation