Incidental Mutation 'R7918:Ints2'
| ID |
648197 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints2
|
| Ensembl Gene |
ENSMUSG00000018068 |
| Gene Name |
integrator complex subunit 2 |
| Synonyms |
2810417D08Rik |
| MMRRC Submission |
045966-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7918 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
86101507-86148401 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 86113043 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 825
(T825M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018212]
[ENSMUST00000108039]
|
| AlphaFold |
Q80UK8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018212
AA Change: T825M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018212
Gene: ENSMUSG00000018068
AA Change: T825M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1131 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108039
AA Change: T825M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103674
Gene: ENSMUSG00000018068
AA Change: T825M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1132 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134828
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330070K13Rik |
G |
A |
5: 130,413,269 (GRCm39) |
T30I |
unknown |
Het |
| Adam21 |
A |
G |
12: 81,607,378 (GRCm39) |
V128A |
possibly damaging |
Het |
| Adam26a |
T |
C |
8: 44,022,566 (GRCm39) |
Y308C |
probably damaging |
Het |
| Adam26b |
A |
G |
8: 43,974,138 (GRCm39) |
V288A |
probably benign |
Het |
| Ankrd29 |
A |
C |
18: 12,428,979 (GRCm39) |
L30R |
probably damaging |
Het |
| Bank1 |
A |
G |
3: 135,799,123 (GRCm39) |
I406T |
probably damaging |
Het |
| Cacna1g |
A |
G |
11: 94,334,856 (GRCm39) |
I817T |
probably benign |
Het |
| Catsperd |
T |
C |
17: 56,938,564 (GRCm39) |
F31L |
probably benign |
Het |
| Cep164 |
A |
G |
9: 45,690,986 (GRCm39) |
|
probably null |
Het |
| Clca4b |
T |
C |
3: 144,619,033 (GRCm39) |
Y702C |
probably damaging |
Het |
| Clstn1 |
A |
G |
4: 149,728,508 (GRCm39) |
I655V |
probably damaging |
Het |
| Dock1 |
A |
G |
7: 134,747,147 (GRCm39) |
E1486G |
probably damaging |
Het |
| Epha8 |
A |
G |
4: 136,661,877 (GRCm39) |
F573L |
probably benign |
Het |
| Exoc1 |
A |
G |
5: 76,691,840 (GRCm39) |
N323S |
probably benign |
Het |
| Exoc6b |
C |
T |
6: 85,046,332 (GRCm39) |
R19Q |
probably damaging |
Het |
| Gcsam |
T |
C |
16: 45,440,502 (GRCm39) |
*182R |
probably null |
Het |
| Ighv9-2 |
T |
C |
12: 114,072,911 (GRCm39) |
I21V |
probably benign |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Lad1 |
A |
G |
1: 135,757,454 (GRCm39) |
T398A |
probably benign |
Het |
| Lrfn2 |
T |
C |
17: 49,378,212 (GRCm39) |
V431A |
probably damaging |
Het |
| Mast2 |
T |
C |
4: 116,292,732 (GRCm39) |
I79M |
possibly damaging |
Het |
| Nup107 |
A |
G |
10: 117,617,905 (GRCm39) |
V171A |
probably benign |
Het |
| Or1e1c |
T |
C |
11: 73,265,923 (GRCm39) |
F119S |
probably damaging |
Het |
| Or8b101 |
T |
A |
9: 38,020,103 (GRCm39) |
Y35* |
probably null |
Het |
| Or8g37 |
C |
A |
9: 39,731,406 (GRCm39) |
T157K |
probably damaging |
Het |
| Pde4dip |
T |
A |
3: 97,622,539 (GRCm39) |
K1557* |
probably null |
Het |
| Plat |
C |
T |
8: 23,263,655 (GRCm39) |
P185S |
probably damaging |
Het |
| Plcg1 |
T |
G |
2: 160,595,585 (GRCm39) |
V511G |
probably damaging |
Het |
| Plxnb3 |
C |
T |
X: 72,811,251 (GRCm39) |
A1258V |
probably benign |
Het |
| Rnf223 |
T |
C |
4: 156,217,240 (GRCm39) |
V205A |
probably benign |
Het |
| Slc13a1 |
G |
C |
6: 24,118,065 (GRCm39) |
T224R |
probably benign |
Het |
| Slc39a10 |
T |
A |
1: 46,874,912 (GRCm39) |
H130L |
possibly damaging |
Het |
| Sucnr1 |
T |
A |
3: 59,993,790 (GRCm39) |
I106N |
probably damaging |
Het |
| Syde2 |
T |
C |
3: 145,708,170 (GRCm39) |
|
probably null |
Het |
| Syne1 |
T |
C |
10: 5,309,078 (GRCm39) |
I644V |
possibly damaging |
Het |
| Tbc1d8 |
A |
C |
1: 39,441,809 (GRCm39) |
F261C |
probably damaging |
Het |
| Tmem132e |
A |
G |
11: 82,336,116 (GRCm39) |
Y1066C |
probably damaging |
Het |
| Trip12 |
A |
C |
1: 84,722,784 (GRCm39) |
I1322S |
probably damaging |
Het |
| Tsnaxip1 |
A |
G |
8: 106,571,167 (GRCm39) |
I676V |
probably benign |
Het |
| Vmn1r231 |
A |
T |
17: 21,110,236 (GRCm39) |
Y226* |
probably null |
Het |
| Vmn2r63 |
G |
C |
7: 42,552,955 (GRCm39) |
A767G |
probably damaging |
Het |
| Wdr5b |
A |
G |
16: 35,862,192 (GRCm39) |
T104A |
probably damaging |
Het |
| Zbed5 |
T |
C |
5: 129,930,504 (GRCm39) |
V151A |
possibly damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,653,189 (GRCm39) |
F31S |
probably damaging |
Het |
| Zfp874b |
A |
T |
13: 67,622,279 (GRCm39) |
C340S |
possibly damaging |
Het |
| Zmym4 |
T |
A |
4: 126,804,797 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- GCTCAGTGGGTTAGAGCAC -3'
(R):5'- CCAGCCTGAAATACATGAGAGCC -3'
Sequencing Primer
(F):5'- TCTGAAGACAGCTACAGTGTAC -3'
(R):5'- CTTAGATGTCAGCTCTAACATAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation