Incidental Mutation 'R8348:Ints2'
| ID |
645378 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints2
|
| Ensembl Gene |
ENSMUSG00000018068 |
| Gene Name |
integrator complex subunit 2 |
| Synonyms |
2810417D08Rik |
| MMRRC Submission |
067732-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8348 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
86210681-86257575 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86255423 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 120
(T120A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018212]
[ENSMUST00000108039]
[ENSMUST00000132024]
[ENSMUST00000136469]
[ENSMUST00000139285]
|
| AlphaFold |
Q80UK8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018212
AA Change: T120A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000018212
Gene: ENSMUSG00000018068
AA Change: T120A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1131 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108039
AA Change: T120A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103674
Gene: ENSMUSG00000018068
AA Change: T120A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1132 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132024
AA Change: T120A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114859
Gene: ENSMUSG00000018068
AA Change: T120A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
140 |
1e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136469
|
| SMART Domains |
Protein: ENSMUSP00000116633
Gene: ENSMUSG00000018068
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
98 |
6.5e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139285
AA Change: T120A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119084
Gene: ENSMUSG00000018068
AA Change: T120A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
190 |
1.4e-69 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
T |
C |
4: 62,542,785 (GRCm38) |
|
probably null |
Het |
| Adamts6 |
T |
A |
13: 104,479,519 (GRCm38) |
C1030S |
probably damaging |
Het |
| Adamtsl3 |
C |
A |
7: 82,603,799 (GRCm38) |
T1527K |
possibly damaging |
Het |
| Akap9 |
G |
A |
5: 3,948,897 (GRCm38) |
|
probably null |
Het |
| Ankle2 |
C |
A |
5: 110,242,043 (GRCm38) |
P457T |
possibly damaging |
Het |
| Ankrd7 |
A |
G |
6: 18,868,008 (GRCm38) |
N91S |
probably damaging |
Het |
| Ascc3 |
C |
A |
10: 50,618,077 (GRCm38) |
Q203K |
probably benign |
Het |
| Baz2b |
A |
T |
2: 59,911,793 (GRCm38) |
D61E |
|
Het |
| Bmpr1a |
T |
A |
14: 34,414,802 (GRCm38) |
K477N |
probably benign |
Het |
| Cacna1d |
T |
C |
14: 30,102,407 (GRCm38) |
I1040V |
probably damaging |
Het |
| Castor2 |
T |
C |
5: 134,138,116 (GRCm38) |
F304L |
possibly damaging |
Het |
| Cdkn2a |
C |
A |
4: 89,282,054 (GRCm38) |
V20L |
possibly damaging |
Het |
| Chd5 |
A |
G |
4: 152,360,716 (GRCm38) |
S385G |
probably damaging |
Het |
| Cntrob |
A |
G |
11: 69,299,853 (GRCm38) |
F46L |
unknown |
Het |
| Cth |
T |
C |
3: 157,925,020 (GRCm38) |
D4G |
probably benign |
Het |
| Cyld |
C |
T |
8: 88,729,569 (GRCm38) |
H416Y |
probably damaging |
Het |
| Dennd6a |
C |
A |
14: 26,606,943 (GRCm38) |
H264Q |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 31,293,725 (GRCm38) |
Y1672C |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,673,840 (GRCm38) |
I800V |
probably benign |
Het |
| Esrp2 |
A |
G |
8: 106,132,221 (GRCm38) |
Y595H |
probably damaging |
Het |
| F12 |
T |
A |
13: 55,418,488 (GRCm38) |
Y497F |
probably benign |
Het |
| Fggy |
A |
G |
4: 95,844,190 (GRCm38) |
T473A |
probably benign |
Het |
| Garre1 |
A |
T |
7: 34,285,144 (GRCm38) |
L18Q |
probably damaging |
Het |
| Gm21103 |
C |
A |
14: 6,301,873 (GRCm38) |
R180L |
probably benign |
Het |
| Gstt2 |
C |
A |
10: 75,832,692 (GRCm38) |
R107L |
probably damaging |
Het |
| Hectd4 |
A |
T |
5: 121,220,256 (GRCm38) |
|
probably benign |
Het |
| Helb |
A |
G |
10: 120,102,886 (GRCm38) |
F561S |
probably damaging |
Het |
| Kdm5d |
G |
A |
Y: 914,056 (GRCm38) |
R331H |
probably benign |
Het |
| Krt6b |
A |
G |
15: 101,678,020 (GRCm38) |
Y345H |
probably damaging |
Het |
| Limch1 |
A |
G |
5: 67,002,482 (GRCm38) |
K418E |
probably damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,620,900 (GRCm38) |
T81S |
unknown |
Het |
| Med17 |
C |
T |
9: 15,262,439 (GRCm38) |
|
probably null |
Het |
| Met |
A |
T |
6: 17,571,800 (GRCm38) |
I1373F |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,300,386 (GRCm38) |
Q543L |
possibly damaging |
Het |
| Nat9 |
T |
C |
11: 115,185,076 (GRCm38) |
T40A |
probably damaging |
Het |
| Ogdh |
A |
G |
11: 6,342,619 (GRCm38) |
N455S |
probably damaging |
Het |
| Or52k2 |
C |
A |
7: 102,605,000 (GRCm38) |
F215L |
probably benign |
Het |
| Pde4a |
T |
C |
9: 21,206,238 (GRCm38) |
F599L |
probably benign |
Het |
| Pga5 |
T |
C |
19: 10,671,809 (GRCm38) |
Y249C |
probably damaging |
Het |
| Plekha8 |
A |
T |
6: 54,630,554 (GRCm38) |
K382M |
probably damaging |
Het |
| Plekhd1 |
A |
T |
12: 80,706,375 (GRCm38) |
E119V |
probably damaging |
Het |
| Pnp |
A |
T |
14: 50,947,899 (GRCm38) |
H20L |
probably benign |
Het |
| Polq |
A |
T |
16: 37,017,197 (GRCm38) |
|
probably null |
Het |
| Psma3 |
T |
G |
12: 70,988,476 (GRCm38) |
I177R |
probably damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,240,784 (GRCm38) |
|
probably null |
Het |
| Ptprt |
A |
T |
2: 161,558,886 (GRCm38) |
L1077Q |
probably damaging |
Het |
| Rbm47 |
A |
T |
5: 66,027,230 (GRCm38) |
M10K |
possibly damaging |
Het |
| Rere |
A |
G |
4: 150,619,196 (GRCm38) |
D186G |
probably damaging |
Het |
| Rpl24 |
T |
C |
16: 55,967,090 (GRCm38) |
S38P |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,940,061 (GRCm38) |
F79L |
possibly damaging |
Het |
| Sorl1 |
T |
A |
9: 41,991,745 (GRCm38) |
D1551V |
probably benign |
Het |
| Sos1 |
C |
A |
17: 80,434,119 (GRCm38) |
M412I |
probably benign |
Het |
| Spast |
G |
A |
17: 74,359,298 (GRCm38) |
V209I |
probably benign |
Het |
| Spindoc |
G |
T |
19: 7,358,404 (GRCm38) |
Q340K |
possibly damaging |
Het |
| Tlr6 |
T |
C |
5: 64,953,842 (GRCm38) |
Y574C |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 123,192,123 (GRCm38) |
N1748S |
possibly damaging |
Het |
| Trbv13-2 |
A |
T |
6: 41,121,540 (GRCm38) |
K16N |
probably benign |
Het |
| Triobp |
C |
T |
15: 78,994,126 (GRCm38) |
H1750Y |
possibly damaging |
Het |
| Ubc |
C |
T |
5: 125,388,031 (GRCm38) |
M77I |
probably damaging |
Het |
| Usp24 |
A |
G |
4: 106,368,736 (GRCm38) |
D659G |
possibly damaging |
Het |
| Vmn2r88 |
T |
A |
14: 51,418,796 (GRCm38) |
C821S |
probably damaging |
Het |
| Whamm |
T |
A |
7: 81,574,547 (GRCm38) |
V197D |
probably damaging |
Het |
| Zfp777 |
A |
G |
6: 48,029,167 (GRCm38) |
F431S |
probably damaging |
Het |
|
| Other mutations in Ints2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00807:Ints2
|
APN |
11 |
86,233,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02490:Ints2
|
APN |
11 |
86,233,183 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02612:Ints2
|
APN |
11 |
86,215,578 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03396:Ints2
|
APN |
11 |
86,213,062 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0015:Ints2
|
UTSW |
11 |
86,249,287 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0015:Ints2
|
UTSW |
11 |
86,249,287 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0355:Ints2
|
UTSW |
11 |
86,234,749 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0389:Ints2
|
UTSW |
11 |
86,248,851 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0631:Ints2
|
UTSW |
11 |
86,233,196 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0944:Ints2
|
UTSW |
11 |
86,244,463 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R1268:Ints2
|
UTSW |
11 |
86,233,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1269:Ints2
|
UTSW |
11 |
86,233,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1270:Ints2
|
UTSW |
11 |
86,233,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1396:Ints2
|
UTSW |
11 |
86,249,248 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1474:Ints2
|
UTSW |
11 |
86,226,781 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1503:Ints2
|
UTSW |
11 |
86,226,781 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1840:Ints2
|
UTSW |
11 |
86,233,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1987:Ints2
|
UTSW |
11 |
86,217,800 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1990:Ints2
|
UTSW |
11 |
86,248,934 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R1991:Ints2
|
UTSW |
11 |
86,248,934 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R3694:Ints2
|
UTSW |
11 |
86,243,001 (GRCm38) |
missense |
probably benign |
0.41 |
|
R4056:Ints2
|
UTSW |
11 |
86,242,952 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4057:Ints2
|
UTSW |
11 |
86,242,952 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4569:Ints2
|
UTSW |
11 |
86,256,198 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4585:Ints2
|
UTSW |
11 |
86,249,275 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4586:Ints2
|
UTSW |
11 |
86,249,275 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4806:Ints2
|
UTSW |
11 |
86,256,209 (GRCm38) |
missense |
probably benign |
0.10 |
|
R4929:Ints2
|
UTSW |
11 |
86,212,653 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R5031:Ints2
|
UTSW |
11 |
86,256,200 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5064:Ints2
|
UTSW |
11 |
86,249,274 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5270:Ints2
|
UTSW |
11 |
86,215,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5621:Ints2
|
UTSW |
11 |
86,242,947 (GRCm38) |
missense |
probably benign |
0.32 |
|
R5875:Ints2
|
UTSW |
11 |
86,238,312 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5908:Ints2
|
UTSW |
11 |
86,215,545 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5914:Ints2
|
UTSW |
11 |
86,222,174 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5941:Ints2
|
UTSW |
11 |
86,250,972 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5975:Ints2
|
UTSW |
11 |
86,226,748 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R6003:Ints2
|
UTSW |
11 |
86,238,468 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6091:Ints2
|
UTSW |
11 |
86,236,603 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6209:Ints2
|
UTSW |
11 |
86,225,058 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6567:Ints2
|
UTSW |
11 |
86,226,661 (GRCm38) |
missense |
probably benign |
0.42 |
|
R6764:Ints2
|
UTSW |
11 |
86,212,779 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7033:Ints2
|
UTSW |
11 |
86,233,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7132:Ints2
|
UTSW |
11 |
86,217,754 (GRCm38) |
missense |
probably benign |
0.26 |
|
R7337:Ints2
|
UTSW |
11 |
86,217,842 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7410:Ints2
|
UTSW |
11 |
86,233,226 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7483:Ints2
|
UTSW |
11 |
86,215,618 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7503:Ints2
|
UTSW |
11 |
86,232,055 (GRCm38) |
missense |
probably benign |
|
|
R7804:Ints2
|
UTSW |
11 |
86,212,663 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7845:Ints2
|
UTSW |
11 |
86,238,263 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7875:Ints2
|
UTSW |
11 |
86,213,062 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7918:Ints2
|
UTSW |
11 |
86,222,217 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7922:Ints2
|
UTSW |
11 |
86,244,627 (GRCm38) |
missense |
probably benign |
0.29 |
|
R8058:Ints2
|
UTSW |
11 |
86,255,353 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8134:Ints2
|
UTSW |
11 |
86,212,660 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8189:Ints2
|
UTSW |
11 |
86,215,570 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8295:Ints2
|
UTSW |
11 |
86,225,088 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8448:Ints2
|
UTSW |
11 |
86,255,423 (GRCm38) |
missense |
probably benign |
|
|
R8784:Ints2
|
UTSW |
11 |
86,225,115 (GRCm38) |
nonsense |
probably null |
|
|
R8784:Ints2
|
UTSW |
11 |
86,222,137 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8942:Ints2
|
UTSW |
11 |
86,212,894 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9037:Ints2
|
UTSW |
11 |
86,215,704 (GRCm38) |
missense |
probably benign |
|
|
R9154:Ints2
|
UTSW |
11 |
86,234,698 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9397:Ints2
|
UTSW |
11 |
86,244,485 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9412:Ints2
|
UTSW |
11 |
86,226,763 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9472:Ints2
|
UTSW |
11 |
86,242,998 (GRCm38) |
missense |
|
|
|
R9476:Ints2
|
UTSW |
11 |
86,244,509 (GRCm38) |
missense |
probably benign |
|
|
R9510:Ints2
|
UTSW |
11 |
86,244,509 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAACATGTAACCTGCCTGCC -3'
(R):5'- ACAGTGTTTCGGAGGAATGG -3'
Sequencing Primer
(F):5'- GTAAGTACACTGTAGCTGTCCTCAG -3'
(R):5'- TGGAAACCATTTACAATGAGTGG -3'
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| Posted On |
2020-09-02 |
Incidental Mutation