Incidental Mutation 'R5941:Ints2'
| ID |
460288 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints2
|
| Ensembl Gene |
ENSMUSG00000018068 |
| Gene Name |
integrator complex subunit 2 |
| Synonyms |
2810417D08Rik |
| MMRRC Submission |
044133-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5941 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
86101507-86148401 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 86141798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 216
(N216K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103674
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018212]
[ENSMUST00000108039]
[ENSMUST00000132024]
[ENSMUST00000139285]
|
| AlphaFold |
Q80UK8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018212
AA Change: N216K
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000018212
Gene: ENSMUSG00000018068
AA Change: N216K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1131 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108039
AA Change: N216K
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000103674
Gene: ENSMUSG00000018068
AA Change: N216K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1132 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132024
|
| SMART Domains |
Protein: ENSMUSP00000114859
Gene: ENSMUSG00000018068
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
140 |
1e-48 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134883
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139285
|
| SMART Domains |
Protein: ENSMUSP00000119084
Gene: ENSMUSG00000018068
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
190 |
1.4e-69 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143819
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.2%
|
| Validation Efficiency |
97% (95/98) |
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
T |
A |
7: 119,190,321 (GRCm39) |
D70E |
probably damaging |
Het |
| Adamts14 |
C |
T |
10: 61,057,674 (GRCm39) |
G561R |
probably damaging |
Het |
| Alpk3 |
A |
T |
7: 80,728,401 (GRCm39) |
K510N |
probably damaging |
Het |
| Ap3b1 |
A |
G |
13: 94,576,781 (GRCm39) |
N269D |
probably benign |
Het |
| Ap3b1 |
T |
C |
13: 94,619,773 (GRCm39) |
S144P |
probably damaging |
Het |
| Apba2 |
C |
A |
7: 64,395,464 (GRCm39) |
Q635K |
probably benign |
Het |
| Aspg |
C |
T |
12: 112,079,519 (GRCm39) |
T99I |
probably benign |
Het |
| Atp7b |
A |
G |
8: 22,487,512 (GRCm39) |
V1179A |
probably damaging |
Het |
| Bbs12 |
T |
C |
3: 37,374,197 (GRCm39) |
V215A |
probably damaging |
Het |
| Bcl2l11 |
C |
A |
2: 127,969,703 (GRCm39) |
|
probably benign |
Het |
| Bglap3 |
T |
G |
3: 88,283,653 (GRCm39) |
|
probably benign |
Het |
| Cchcr1 |
G |
A |
17: 35,835,890 (GRCm39) |
R284Q |
probably damaging |
Het |
| Cdh26 |
C |
T |
2: 178,123,443 (GRCm39) |
Q662* |
probably null |
Het |
| Cftr |
T |
A |
6: 18,313,645 (GRCm39) |
F1290I |
probably damaging |
Het |
| Clip3 |
G |
A |
7: 29,991,731 (GRCm39) |
E36K |
probably damaging |
Het |
| Cog2 |
A |
G |
8: 125,272,825 (GRCm39) |
I541V |
probably benign |
Het |
| Cpt1b |
A |
T |
15: 89,309,417 (GRCm39) |
W39R |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 15,982,471 (GRCm39) |
V2732A |
probably damaging |
Het |
| Dlec1 |
A |
G |
9: 118,955,380 (GRCm39) |
D688G |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,428,022 (GRCm39) |
E216G |
probably benign |
Het |
| Dnah7b |
C |
A |
1: 46,226,450 (GRCm39) |
L1294I |
probably damaging |
Het |
| Duox1 |
T |
A |
2: 122,174,637 (GRCm39) |
L1265Q |
probably damaging |
Het |
| Fam91a1 |
T |
A |
15: 58,303,166 (GRCm39) |
D358E |
probably benign |
Het |
| Fat3 |
A |
C |
9: 15,910,797 (GRCm39) |
I1735S |
probably benign |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Gabrr1 |
T |
A |
4: 33,162,676 (GRCm39) |
M414K |
probably benign |
Het |
| Gm21915 |
A |
C |
9: 40,581,995 (GRCm39) |
E29D |
possibly damaging |
Het |
| Gm9955 |
G |
A |
18: 24,842,320 (GRCm39) |
|
probably benign |
Het |
| Gpat2 |
C |
A |
2: 127,270,195 (GRCm39) |
D69E |
possibly damaging |
Het |
| Grin2b |
T |
G |
6: 135,713,371 (GRCm39) |
I837L |
probably damaging |
Het |
| Gucy2g |
T |
C |
19: 55,203,563 (GRCm39) |
D745G |
probably damaging |
Het |
| H2-Q1 |
A |
G |
17: 35,540,332 (GRCm39) |
Y139C |
probably damaging |
Het |
| Jmy |
G |
A |
13: 93,635,333 (GRCm39) |
P161L |
probably benign |
Het |
| Kctd11 |
G |
A |
11: 69,770,799 (GRCm39) |
R80W |
possibly damaging |
Het |
| Kif7 |
A |
G |
7: 79,360,880 (GRCm39) |
|
probably benign |
Het |
| Kifc1 |
C |
T |
17: 34,102,059 (GRCm39) |
|
probably benign |
Het |
| Lcor |
G |
A |
19: 41,574,839 (GRCm39) |
R1198Q |
probably damaging |
Het |
| Mir412 |
C |
A |
12: 109,709,733 (GRCm39) |
|
noncoding transcript |
Het |
| Mknk1 |
T |
A |
4: 115,733,834 (GRCm39) |
|
probably benign |
Het |
| Mmp16 |
A |
G |
4: 18,054,354 (GRCm39) |
|
probably benign |
Het |
| Mmp7 |
A |
G |
9: 7,697,646 (GRCm39) |
H227R |
probably damaging |
Het |
| Myh4 |
A |
C |
11: 67,150,126 (GRCm39) |
D1861A |
probably damaging |
Het |
| Nup205 |
T |
C |
6: 35,209,343 (GRCm39) |
L1550P |
probably damaging |
Het |
| Or10g1 |
C |
T |
14: 52,647,525 (GRCm39) |
G268D |
probably benign |
Het |
| Or2a56 |
G |
T |
6: 42,932,650 (GRCm39) |
A73S |
possibly damaging |
Het |
| Or4c113 |
T |
A |
2: 88,884,963 (GRCm39) |
H269L |
probably benign |
Het |
| Or4c58 |
T |
A |
2: 89,674,859 (GRCm39) |
I153F |
probably benign |
Het |
| Or51af1 |
A |
G |
7: 103,141,927 (GRCm39) |
S53P |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pafah1b2 |
A |
T |
9: 45,887,405 (GRCm39) |
C35* |
probably null |
Het |
| Pappa |
T |
A |
4: 65,232,830 (GRCm39) |
F1323Y |
possibly damaging |
Het |
| Phtf2 |
A |
T |
5: 20,979,071 (GRCm39) |
F519Y |
probably damaging |
Het |
| Pigk |
T |
C |
3: 152,472,150 (GRCm39) |
I354T |
possibly damaging |
Het |
| Plekha7 |
T |
C |
7: 115,724,040 (GRCm39) |
D1265G |
possibly damaging |
Het |
| Prss12 |
A |
G |
3: 123,299,150 (GRCm39) |
R641G |
probably benign |
Het |
| Prss28 |
A |
G |
17: 25,528,717 (GRCm39) |
Y53C |
probably damaging |
Het |
| Rabgap1 |
G |
T |
2: 37,451,908 (GRCm39) |
C936F |
possibly damaging |
Het |
| Rap1a |
T |
C |
3: 105,639,385 (GRCm39) |
I91M |
possibly damaging |
Het |
| Rap1gap2 |
A |
T |
11: 74,283,063 (GRCm39) |
M679K |
probably damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,692,473 (GRCm39) |
L352I |
probably damaging |
Het |
| Rhbdl3 |
G |
A |
11: 80,222,715 (GRCm39) |
V255M |
probably benign |
Het |
| Rhot1 |
T |
C |
11: 80,141,996 (GRCm39) |
|
probably benign |
Het |
| Rita1 |
A |
C |
5: 120,747,626 (GRCm39) |
V224G |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,702,788 (GRCm39) |
Y2900F |
probably damaging |
Het |
| Scaf11 |
A |
C |
15: 96,318,189 (GRCm39) |
H458Q |
probably damaging |
Het |
| Scamp4 |
T |
A |
10: 80,448,255 (GRCm39) |
S159T |
probably benign |
Het |
| Setd5 |
T |
A |
6: 113,105,451 (GRCm39) |
Y828N |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Sipa1l2 |
A |
G |
8: 126,200,275 (GRCm39) |
S684P |
probably damaging |
Het |
| Stard9 |
A |
T |
2: 120,544,039 (GRCm39) |
I4446F |
probably damaging |
Het |
| Sult1c2 |
T |
C |
17: 54,138,926 (GRCm39) |
D217G |
probably benign |
Het |
| Supt16 |
C |
A |
14: 52,419,653 (GRCm39) |
K148N |
probably benign |
Het |
| Syne3 |
G |
A |
12: 104,913,251 (GRCm39) |
S570L |
probably benign |
Het |
| Tcf3 |
G |
T |
10: 80,248,878 (GRCm39) |
D534E |
probably benign |
Het |
| Tmed6 |
G |
T |
8: 107,790,786 (GRCm39) |
T87K |
probably damaging |
Het |
| Trbv3 |
T |
C |
6: 41,025,335 (GRCm39) |
I3T |
probably benign |
Het |
| Trbv4 |
T |
A |
6: 41,036,563 (GRCm39) |
Y29* |
probably null |
Het |
| Ttl |
A |
G |
2: 128,917,904 (GRCm39) |
N122S |
probably benign |
Het |
| Txndc11 |
T |
C |
16: 10,892,935 (GRCm39) |
T932A |
probably benign |
Het |
| Ube2e2 |
G |
A |
14: 18,586,910 (GRCm38) |
A150V |
probably damaging |
Het |
| Ube2ql1 |
T |
C |
13: 69,887,459 (GRCm39) |
M1V |
probably null |
Het |
| Uqcrc1 |
A |
G |
9: 108,776,554 (GRCm39) |
|
probably benign |
Het |
| Utrn |
T |
C |
10: 12,362,227 (GRCm39) |
D2702G |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,840,810 (GRCm39) |
D618V |
probably damaging |
Het |
| Vdac3-ps1 |
A |
G |
13: 18,205,787 (GRCm39) |
|
noncoding transcript |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Zap70 |
G |
A |
1: 36,810,030 (GRCm39) |
V47M |
probably damaging |
Het |
| Zfp770 |
A |
G |
2: 114,028,027 (GRCm39) |
M14T |
possibly damaging |
Het |
| Zup1 |
C |
T |
10: 33,825,458 (GRCm39) |
G8D |
probably 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 |
|
R4569:Ints2
|
UTSW |
11 |
86,147,024 (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 |
|
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'- TAGCTTAGGCACTGGGTCCTAC -3'
(R):5'- TCTGGCTATGGAAAAGAGAACC -3'
Sequencing Primer
(F):5'- TACCCTTGCCCAGAAGGAG -3'
(R):5'- CCTGTAGGGGTCACGTCTCAATAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation