Incidental Mutation 'R4569:Ints2'
ID |
342023 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ints2
|
Ensembl Gene |
ENSMUSG00000018068 |
Gene Name |
integrator complex subunit 2 |
Synonyms |
2810417D08Rik |
MMRRC Submission |
041793-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4569 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
86101507-86148401 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86147024 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 41
(C41R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018212]
[ENSMUST00000108039]
[ENSMUST00000132024]
[ENSMUST00000136469]
[ENSMUST00000139285]
|
AlphaFold |
Q80UK8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000018212
AA Change: C41R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000018212 Gene: ENSMUSG00000018068 AA Change: C41R
Domain | Start | End | E-Value | Type |
Pfam:INTS2
|
24 |
1131 |
N/A |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108039
AA Change: C41R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103674 Gene: ENSMUSG00000018068 AA Change: C41R
Domain | Start | End | E-Value | Type |
Pfam:INTS2
|
24 |
1132 |
N/A |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130614
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000132024
AA Change: C41R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114859 Gene: ENSMUSG00000018068 AA Change: C41R
Domain | Start | End | E-Value | Type |
Pfam:INTS2
|
24 |
140 |
1e-48 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134883
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000136469
AA Change: C41R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116633 Gene: ENSMUSG00000018068 AA Change: C41R
Domain | Start | End | E-Value | Type |
Pfam:INTS2
|
24 |
98 |
6.5e-31 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000139285
AA Change: C41R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119084 Gene: ENSMUSG00000018068 AA Change: C41R
Domain | Start | End | E-Value | Type |
Pfam:INTS2
|
24 |
190 |
1.4e-69 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141756
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143819
|
Meta Mutation Damage Score |
0.8333 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
99% (87/88) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INTS2 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
A |
G |
7: 41,275,262 (GRCm39) |
T322A |
probably benign |
Het |
Abhd13 |
C |
T |
8: 10,038,071 (GRCm39) |
P223S |
possibly damaging |
Het |
Adgra3 |
T |
A |
5: 50,117,905 (GRCm39) |
L1214F |
probably damaging |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Ankrd13a |
C |
A |
5: 114,927,373 (GRCm39) |
P120Q |
probably damaging |
Het |
Apbb1ip |
A |
G |
2: 22,739,556 (GRCm39) |
Y277C |
probably damaging |
Het |
Arfgap1 |
T |
C |
2: 180,618,166 (GRCm39) |
|
probably benign |
Het |
Arid2 |
T |
A |
15: 96,290,343 (GRCm39) |
V1746D |
probably damaging |
Het |
C1qtnf7 |
T |
A |
5: 43,766,549 (GRCm39) |
N49K |
possibly damaging |
Het |
Cacnb2 |
A |
T |
2: 14,990,811 (GRCm39) |
D587V |
possibly damaging |
Het |
Ccar2 |
A |
T |
14: 70,389,359 (GRCm39) |
|
probably null |
Het |
Cdk2ap2 |
T |
C |
19: 4,147,879 (GRCm39) |
F49L |
possibly damaging |
Het |
Cdon |
A |
T |
9: 35,388,265 (GRCm39) |
I747F |
probably damaging |
Het |
Cyp19a1 |
G |
A |
9: 54,100,607 (GRCm39) |
P27S |
probably benign |
Het |
Cyp4v3 |
T |
A |
8: 45,760,029 (GRCm39) |
R508W |
probably damaging |
Het |
Dclk1 |
T |
C |
3: 55,154,831 (GRCm39) |
L87P |
probably damaging |
Het |
Ddx41 |
G |
A |
13: 55,683,834 (GRCm39) |
R66C |
possibly damaging |
Het |
Dmxl1 |
T |
C |
18: 49,985,427 (GRCm39) |
Y225H |
probably damaging |
Het |
Dnah7a |
G |
A |
1: 53,450,818 (GRCm39) |
P3871S |
probably benign |
Het |
Dnhd1 |
A |
G |
7: 105,306,373 (GRCm39) |
|
probably null |
Het |
Dph1 |
A |
T |
11: 75,069,721 (GRCm39) |
|
probably benign |
Het |
Egln2 |
A |
G |
7: 26,859,008 (GRCm39) |
I382T |
probably damaging |
Het |
Enpp3 |
A |
G |
10: 24,652,780 (GRCm39) |
Y726H |
probably damaging |
Het |
Fbxo32 |
A |
G |
15: 58,044,873 (GRCm39) |
F353L |
probably damaging |
Het |
Fchsd2 |
G |
A |
7: 100,926,809 (GRCm39) |
G657D |
possibly damaging |
Het |
Fer1l4 |
T |
A |
2: 155,878,559 (GRCm39) |
E44V |
possibly damaging |
Het |
Gjb2 |
C |
T |
14: 57,337,762 (GRCm39) |
V149I |
probably benign |
Het |
Glipr1l1 |
A |
G |
10: 111,898,317 (GRCm39) |
M141V |
probably benign |
Het |
Gnaq |
T |
C |
19: 16,312,370 (GRCm39) |
S211P |
probably damaging |
Het |
Gnl1 |
A |
G |
17: 36,299,142 (GRCm39) |
R527G |
probably benign |
Het |
Gns |
A |
G |
10: 121,217,083 (GRCm39) |
Q286R |
probably benign |
Het |
Gon4l |
T |
C |
3: 88,817,397 (GRCm39) |
|
probably benign |
Het |
Gpr107 |
T |
C |
2: 31,097,677 (GRCm39) |
|
probably benign |
Het |
Gprasp1 |
C |
T |
X: 134,703,592 (GRCm39) |
R1262C |
probably damaging |
Het |
Gtf2ird1 |
A |
T |
5: 134,439,857 (GRCm39) |
D124E |
probably damaging |
Het |
Hbp1 |
T |
A |
12: 32,000,231 (GRCm39) |
|
probably benign |
Het |
Hrnr |
C |
T |
3: 93,230,875 (GRCm39) |
T371I |
unknown |
Het |
Jhy |
A |
G |
9: 40,822,389 (GRCm39) |
I583T |
probably benign |
Het |
Jph4 |
G |
T |
14: 55,352,503 (GRCm39) |
R77S |
probably damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Klhl12 |
A |
T |
1: 134,413,507 (GRCm39) |
I331F |
probably benign |
Het |
Map4k4 |
G |
A |
1: 40,039,698 (GRCm39) |
R30Q |
probably damaging |
Het |
Mgst1 |
C |
A |
6: 138,133,213 (GRCm39) |
T176K |
probably damaging |
Het |
Negr1 |
C |
A |
3: 156,914,013 (GRCm39) |
|
probably benign |
Het |
Nrg1 |
C |
T |
8: 32,407,802 (GRCm39) |
V144I |
probably benign |
Het |
Ntmt2 |
T |
A |
1: 163,530,586 (GRCm39) |
*284C |
probably null |
Het |
Or1ad8 |
T |
C |
11: 50,898,381 (GRCm39) |
I194T |
possibly damaging |
Het |
Otog |
A |
G |
7: 45,959,571 (GRCm39) |
D720G |
probably damaging |
Het |
Pex11b |
A |
T |
3: 96,551,330 (GRCm39) |
|
probably benign |
Het |
Phtf2 |
T |
C |
5: 20,994,593 (GRCm39) |
|
probably benign |
Het |
Ppip5k1 |
C |
T |
2: 121,174,044 (GRCm39) |
R359Q |
possibly damaging |
Het |
Prickle2 |
T |
C |
6: 92,399,323 (GRCm39) |
I185V |
probably benign |
Het |
Prrc2a |
G |
A |
17: 35,377,473 (GRCm39) |
P562S |
unknown |
Het |
Rdx |
A |
G |
9: 51,980,141 (GRCm39) |
I245V |
probably benign |
Het |
Rem2 |
T |
C |
14: 54,715,116 (GRCm39) |
S98P |
probably damaging |
Het |
Rhob |
T |
G |
12: 8,549,373 (GRCm39) |
D87A |
probably damaging |
Het |
Ros1 |
T |
A |
10: 52,040,090 (GRCm39) |
E300D |
probably damaging |
Het |
Sbf2 |
A |
G |
7: 109,948,060 (GRCm39) |
|
probably null |
Het |
Sipa1l3 |
G |
T |
7: 29,025,287 (GRCm39) |
P619Q |
probably damaging |
Het |
Snupn |
A |
G |
9: 56,885,346 (GRCm39) |
E217G |
probably benign |
Het |
Ston2 |
T |
A |
12: 91,606,496 (GRCm39) |
*896C |
probably null |
Het |
Stradb |
C |
T |
1: 59,019,117 (GRCm39) |
R13* |
probably null |
Het |
Tbx21 |
G |
A |
11: 97,005,581 (GRCm39) |
A128V |
probably benign |
Het |
Tep1 |
A |
T |
14: 51,062,197 (GRCm39) |
C2552S |
probably benign |
Het |
Tgif1 |
A |
T |
17: 71,151,912 (GRCm39) |
V233E |
possibly damaging |
Het |
Trim31 |
A |
T |
17: 37,209,633 (GRCm39) |
I130L |
probably benign |
Het |
Trrap |
C |
T |
5: 144,728,928 (GRCm39) |
T614I |
probably benign |
Het |
Ttn |
C |
A |
2: 76,766,758 (GRCm39) |
V3107F |
probably damaging |
Het |
Txnrd2 |
T |
G |
16: 18,274,956 (GRCm39) |
D322E |
probably benign |
Het |
Unc45b |
T |
A |
11: 82,827,315 (GRCm39) |
|
probably null |
Het |
Usp43 |
C |
T |
11: 67,789,788 (GRCm39) |
C252Y |
probably damaging |
Het |
Usp43 |
A |
T |
11: 67,766,178 (GRCm39) |
L744* |
probably null |
Het |
Vmn2r71 |
A |
C |
7: 85,273,402 (GRCm39) |
K739Q |
possibly damaging |
Het |
Vps16 |
C |
T |
2: 130,284,124 (GRCm39) |
T653M |
probably benign |
Het |
Wdr83os |
T |
A |
8: 85,808,495 (GRCm39) |
S82R |
probably damaging |
Het |
Xpo6 |
T |
A |
7: 125,727,427 (GRCm39) |
L526F |
probably damaging |
Het |
Zfhx4 |
G |
A |
3: 5,466,894 (GRCm39) |
V2351I |
probably benign |
Het |
Zfp558 |
A |
T |
9: 18,367,799 (GRCm39) |
C330S |
possibly damaging |
Het |
|
Other mutations in Ints2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00807:Ints2
|
APN |
11 |
86,123,961 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02490:Ints2
|
APN |
11 |
86,124,009 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02612:Ints2
|
APN |
11 |
86,106,404 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03396:Ints2
|
APN |
11 |
86,103,888 (GRCm39) |
missense |
probably damaging |
0.99 |
R0015:Ints2
|
UTSW |
11 |
86,140,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R0015:Ints2
|
UTSW |
11 |
86,140,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R0355:Ints2
|
UTSW |
11 |
86,125,575 (GRCm39) |
missense |
probably benign |
0.00 |
R0389:Ints2
|
UTSW |
11 |
86,139,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R0631:Ints2
|
UTSW |
11 |
86,124,022 (GRCm39) |
missense |
probably benign |
0.02 |
R0944:Ints2
|
UTSW |
11 |
86,135,289 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1268:Ints2
|
UTSW |
11 |
86,123,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R1269:Ints2
|
UTSW |
11 |
86,123,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R1270:Ints2
|
UTSW |
11 |
86,123,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R1396:Ints2
|
UTSW |
11 |
86,140,074 (GRCm39) |
missense |
probably damaging |
0.98 |
R1474:Ints2
|
UTSW |
11 |
86,117,607 (GRCm39) |
missense |
probably damaging |
0.97 |
R1503:Ints2
|
UTSW |
11 |
86,117,607 (GRCm39) |
missense |
probably damaging |
0.97 |
R1840:Ints2
|
UTSW |
11 |
86,123,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R1987:Ints2
|
UTSW |
11 |
86,108,626 (GRCm39) |
missense |
probably benign |
0.03 |
R1990:Ints2
|
UTSW |
11 |
86,139,760 (GRCm39) |
missense |
possibly damaging |
0.58 |
R1991:Ints2
|
UTSW |
11 |
86,139,760 (GRCm39) |
missense |
possibly damaging |
0.58 |
R3694:Ints2
|
UTSW |
11 |
86,133,827 (GRCm39) |
missense |
probably benign |
0.41 |
R4056:Ints2
|
UTSW |
11 |
86,133,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R4057:Ints2
|
UTSW |
11 |
86,133,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R4585:Ints2
|
UTSW |
11 |
86,140,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R4586:Ints2
|
UTSW |
11 |
86,140,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R4806:Ints2
|
UTSW |
11 |
86,147,035 (GRCm39) |
missense |
probably benign |
0.10 |
R4929:Ints2
|
UTSW |
11 |
86,103,479 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5031:Ints2
|
UTSW |
11 |
86,147,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R5064:Ints2
|
UTSW |
11 |
86,140,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R5270:Ints2
|
UTSW |
11 |
86,106,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R5621:Ints2
|
UTSW |
11 |
86,133,773 (GRCm39) |
missense |
probably benign |
0.32 |
R5875:Ints2
|
UTSW |
11 |
86,129,138 (GRCm39) |
missense |
probably benign |
0.04 |
R5908:Ints2
|
UTSW |
11 |
86,106,371 (GRCm39) |
critical splice donor site |
probably null |
|
R5914:Ints2
|
UTSW |
11 |
86,113,000 (GRCm39) |
missense |
probably benign |
0.03 |
R5941:Ints2
|
UTSW |
11 |
86,141,798 (GRCm39) |
missense |
probably benign |
0.01 |
R5975:Ints2
|
UTSW |
11 |
86,117,574 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6003:Ints2
|
UTSW |
11 |
86,129,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R6091:Ints2
|
UTSW |
11 |
86,127,429 (GRCm39) |
missense |
probably damaging |
0.96 |
R6209:Ints2
|
UTSW |
11 |
86,115,884 (GRCm39) |
missense |
probably damaging |
1.00 |
R6567:Ints2
|
UTSW |
11 |
86,117,487 (GRCm39) |
missense |
probably benign |
0.42 |
R6764:Ints2
|
UTSW |
11 |
86,103,605 (GRCm39) |
missense |
probably benign |
0.00 |
R7033:Ints2
|
UTSW |
11 |
86,123,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R7132:Ints2
|
UTSW |
11 |
86,108,580 (GRCm39) |
missense |
probably benign |
0.26 |
R7337:Ints2
|
UTSW |
11 |
86,108,668 (GRCm39) |
missense |
probably benign |
0.00 |
R7410:Ints2
|
UTSW |
11 |
86,124,052 (GRCm39) |
missense |
probably benign |
0.02 |
R7483:Ints2
|
UTSW |
11 |
86,106,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R7503:Ints2
|
UTSW |
11 |
86,122,881 (GRCm39) |
missense |
probably benign |
|
R7804:Ints2
|
UTSW |
11 |
86,103,489 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7845:Ints2
|
UTSW |
11 |
86,129,089 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7875:Ints2
|
UTSW |
11 |
86,103,888 (GRCm39) |
missense |
probably damaging |
0.99 |
R7918:Ints2
|
UTSW |
11 |
86,113,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R7922:Ints2
|
UTSW |
11 |
86,135,453 (GRCm39) |
missense |
probably benign |
0.29 |
R8058:Ints2
|
UTSW |
11 |
86,146,179 (GRCm39) |
missense |
probably benign |
0.05 |
R8134:Ints2
|
UTSW |
11 |
86,103,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R8189:Ints2
|
UTSW |
11 |
86,106,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R8295:Ints2
|
UTSW |
11 |
86,115,914 (GRCm39) |
missense |
probably damaging |
0.97 |
R8348:Ints2
|
UTSW |
11 |
86,146,249 (GRCm39) |
missense |
probably benign |
|
R8448:Ints2
|
UTSW |
11 |
86,146,249 (GRCm39) |
missense |
probably benign |
|
R8784:Ints2
|
UTSW |
11 |
86,115,941 (GRCm39) |
nonsense |
probably null |
|
R8784:Ints2
|
UTSW |
11 |
86,112,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R8942:Ints2
|
UTSW |
11 |
86,103,720 (GRCm39) |
missense |
probably benign |
0.00 |
R9037:Ints2
|
UTSW |
11 |
86,106,530 (GRCm39) |
missense |
probably benign |
|
R9154:Ints2
|
UTSW |
11 |
86,125,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R9397:Ints2
|
UTSW |
11 |
86,135,311 (GRCm39) |
missense |
probably benign |
0.01 |
R9412:Ints2
|
UTSW |
11 |
86,117,589 (GRCm39) |
missense |
probably damaging |
0.99 |
R9472:Ints2
|
UTSW |
11 |
86,133,824 (GRCm39) |
missense |
|
|
R9476:Ints2
|
UTSW |
11 |
86,135,335 (GRCm39) |
missense |
probably benign |
|
R9510:Ints2
|
UTSW |
11 |
86,135,335 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTGAACTTTACCTAAGCTGCTG -3'
(R):5'- TGCCAATGCAAGGACCTAC -3'
Sequencing Primer
(F):5'- ACCTAAGCTGCTGTTCTTTGCTG -3'
(R):5'- TCATATATGTGGGAAGTAGATACCG -3'
|
Posted On |
2015-09-24 |