Incidental Mutation 'R4586:Ints2'
| ID |
344130 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints2
|
| Ensembl Gene |
ENSMUSG00000018068 |
| Gene Name |
integrator complex subunit 2 |
| Synonyms |
2810417D08Rik |
| MMRRC Submission |
041807-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4586 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
86101507-86148401 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 86140101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 244
(R244S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103674
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018212]
[ENSMUST00000108039]
[ENSMUST00000139285]
|
| AlphaFold |
Q80UK8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018212
AA Change: R244S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018212
Gene: ENSMUSG00000018068
AA Change: R244S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1131 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108039
AA Change: R244S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103674
Gene: ENSMUSG00000018068
AA Change: R244S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1132 |
N/A |
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 |
0.1452 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (96/96) |
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
T |
C |
5: 4,026,151 (GRCm39) |
S1269P |
probably benign |
Het |
| Aqr |
T |
C |
2: 113,943,058 (GRCm39) |
T1172A |
probably benign |
Het |
| Art2a |
A |
T |
7: 101,203,956 (GRCm39) |
L194* |
probably null |
Het |
| Atrn |
T |
C |
2: 130,823,962 (GRCm39) |
F967S |
probably damaging |
Het |
| Btnl1 |
A |
G |
17: 34,601,436 (GRCm39) |
D323G |
probably damaging |
Het |
| Cadps |
C |
A |
14: 12,505,808 (GRCm38) |
C754F |
probably damaging |
Het |
| Catspere2 |
A |
G |
1: 177,950,351 (GRCm39) |
D734G |
possibly damaging |
Het |
| Ccdc7b |
A |
G |
8: 129,837,401 (GRCm39) |
T131A |
probably benign |
Het |
| Cfap298 |
A |
T |
16: 90,724,314 (GRCm39) |
V136D |
probably damaging |
Het |
| Cic |
A |
T |
7: 24,972,203 (GRCm39) |
I645L |
probably benign |
Het |
| Clca3a1 |
C |
A |
3: 144,722,619 (GRCm39) |
C251F |
probably damaging |
Het |
| Cldn16 |
A |
T |
16: 26,296,308 (GRCm39) |
T95S |
probably benign |
Het |
| Cntnap4 |
C |
T |
8: 113,537,342 (GRCm39) |
H738Y |
probably benign |
Het |
| Col8a2 |
A |
T |
4: 126,204,812 (GRCm39) |
|
probably benign |
Het |
| Corin |
A |
T |
5: 72,487,042 (GRCm39) |
V706D |
probably damaging |
Het |
| Cuzd1 |
G |
A |
7: 130,916,529 (GRCm39) |
P310L |
probably damaging |
Het |
| Cyp4a12a |
T |
C |
4: 115,184,509 (GRCm39) |
F295L |
probably benign |
Het |
| Cyp4a12b |
T |
G |
4: 115,289,703 (GRCm39) |
M190R |
probably damaging |
Het |
| Dagla |
A |
G |
19: 10,248,373 (GRCm39) |
Y96H |
probably damaging |
Het |
| Dapp1 |
T |
C |
3: 137,644,932 (GRCm39) |
Q148R |
probably benign |
Het |
| Dcaf17 |
T |
A |
2: 70,918,924 (GRCm39) |
S499R |
probably benign |
Het |
| Ddx27 |
T |
A |
2: 166,861,904 (GRCm39) |
D135E |
probably benign |
Het |
| Defb3 |
A |
T |
8: 19,345,172 (GRCm39) |
I43F |
possibly damaging |
Het |
| Dnajc10 |
T |
G |
2: 80,178,122 (GRCm39) |
F710V |
probably damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,327,256 (GRCm39) |
L735P |
probably damaging |
Het |
| Dnmt1 |
G |
A |
9: 20,837,989 (GRCm39) |
P242S |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,615,917 (GRCm39) |
D3022N |
probably benign |
Het |
| Ep400 |
G |
A |
5: 110,901,725 (GRCm39) |
T464I |
probably damaging |
Het |
| Epc1 |
T |
C |
18: 6,449,138 (GRCm39) |
N453S |
possibly damaging |
Het |
| Eral1 |
A |
T |
11: 77,969,130 (GRCm39) |
N123K |
probably damaging |
Het |
| Ercc5 |
G |
A |
1: 44,198,017 (GRCm39) |
V145I |
probably benign |
Het |
| Evc |
A |
G |
5: 37,481,057 (GRCm39) |
S263P |
probably damaging |
Het |
| Fancc |
A |
T |
13: 63,495,378 (GRCm39) |
M182K |
probably benign |
Het |
| Fbxl3 |
G |
T |
14: 103,320,526 (GRCm39) |
A355E |
probably damaging |
Het |
| Fig4 |
A |
C |
10: 41,064,628 (GRCm39) |
S872A |
probably damaging |
Het |
| Gm14393 |
C |
A |
2: 174,904,497 (GRCm39) |
|
probably benign |
Het |
| Gm27013 |
A |
T |
6: 130,498,003 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc5a |
T |
A |
6: 135,060,450 (GRCm39) |
M313K |
probably benign |
Het |
| H2ac15 |
T |
C |
13: 21,937,882 (GRCm39) |
N39S |
possibly damaging |
Het |
| H2-T3 |
T |
C |
17: 36,500,236 (GRCm39) |
|
probably null |
Het |
| Hap1 |
G |
A |
11: 100,245,550 (GRCm39) |
T138M |
probably benign |
Het |
| Hook3 |
T |
G |
8: 26,522,039 (GRCm39) |
K679T |
probably damaging |
Het |
| Itgb4 |
T |
C |
11: 115,884,151 (GRCm39) |
V945A |
probably damaging |
Het |
| Itih2 |
C |
T |
2: 10,115,211 (GRCm39) |
S387N |
probably benign |
Het |
| Jmjd7 |
T |
A |
2: 119,862,649 (GRCm39) |
M306K |
probably benign |
Het |
| Klra2 |
T |
A |
6: 131,207,120 (GRCm39) |
D163V |
probably benign |
Het |
| Kmo |
T |
A |
1: 175,478,138 (GRCm39) |
M208K |
probably damaging |
Het |
| Kmo |
G |
T |
1: 175,478,139 (GRCm39) |
M208I |
possibly damaging |
Het |
| Masp2 |
A |
G |
4: 148,698,358 (GRCm39) |
T480A |
probably damaging |
Het |
| Mogs |
G |
T |
6: 83,095,619 (GRCm39) |
R812L |
possibly damaging |
Het |
| Mrpl43 |
A |
G |
19: 44,994,328 (GRCm39) |
I97T |
possibly damaging |
Het |
| Myoz1 |
A |
G |
14: 20,700,663 (GRCm39) |
W185R |
probably damaging |
Het |
| Ncam2 |
T |
A |
16: 81,262,457 (GRCm39) |
H303Q |
probably benign |
Het |
| Ntaq1 |
A |
T |
15: 58,011,740 (GRCm39) |
I34F |
probably damaging |
Het |
| Nufip2 |
T |
C |
11: 77,632,554 (GRCm39) |
V690A |
unknown |
Het |
| Obox1 |
A |
T |
7: 15,290,152 (GRCm39) |
N165I |
possibly damaging |
Het |
| Or1j1 |
C |
T |
2: 36,702,537 (GRCm39) |
C189Y |
probably damaging |
Het |
| Or4b1d |
T |
A |
2: 89,968,558 (GRCm39) |
E308D |
probably benign |
Het |
| Or4c113 |
T |
G |
2: 88,885,498 (GRCm39) |
I91L |
possibly damaging |
Het |
| Or6c35 |
A |
G |
10: 129,169,142 (GRCm39) |
T131A |
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,683,885 (GRCm39) |
Y1127C |
probably damaging |
Het |
| Pno1 |
T |
C |
11: 17,161,438 (GRCm39) |
K24E |
probably benign |
Het |
| Qdpr |
T |
A |
5: 45,596,669 (GRCm39) |
N165I |
possibly damaging |
Het |
| Robo2 |
A |
G |
16: 73,758,761 (GRCm39) |
V674A |
probably damaging |
Het |
| Runx1t1 |
A |
T |
4: 13,889,864 (GRCm39) |
T598S |
unknown |
Het |
| Samd11 |
A |
G |
4: 156,333,889 (GRCm39) |
L174P |
probably damaging |
Het |
| Scn2a |
T |
A |
2: 65,573,395 (GRCm39) |
|
probably null |
Het |
| Slc4a1 |
G |
T |
11: 102,252,245 (GRCm39) |
|
probably benign |
Het |
| Snx25 |
A |
T |
8: 46,569,474 (GRCm39) |
|
probably benign |
Het |
| Sox2 |
A |
G |
3: 34,705,193 (GRCm39) |
N210S |
probably benign |
Het |
| Spag6 |
T |
C |
2: 18,736,958 (GRCm39) |
|
probably null |
Het |
| Speer4b |
A |
T |
5: 27,703,036 (GRCm39) |
L154Q |
probably null |
Het |
| Stt3a |
T |
A |
9: 36,653,089 (GRCm39) |
Q531L |
probably damaging |
Het |
| Tcl1 |
A |
C |
12: 105,183,767 (GRCm39) |
|
probably benign |
Het |
| Trip11 |
A |
T |
12: 101,849,600 (GRCm39) |
M1488K |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,798,747 (GRCm39) |
H509R |
probably benign |
Het |
| Ulk3 |
C |
T |
9: 57,501,593 (GRCm39) |
L425F |
possibly damaging |
Het |
| Vmn1r238 |
T |
A |
18: 3,123,294 (GRCm39) |
K40M |
probably damaging |
Het |
| Vopp1 |
G |
A |
6: 57,731,533 (GRCm39) |
P153S |
probably damaging |
Het |
| Zbtb42 |
C |
T |
12: 112,646,976 (GRCm39) |
R384W |
probably damaging |
Het |
| Zfp14 |
G |
T |
7: 29,738,341 (GRCm39) |
Q215K |
probably damaging |
Het |
| Zfp473 |
A |
T |
7: 44,382,376 (GRCm39) |
Y651* |
probably null |
Het |
| Zfp735 |
G |
T |
11: 73,580,550 (GRCm39) |
E16D |
possibly damaging |
Het |
| Zfp846 |
G |
T |
9: 20,504,809 (GRCm39) |
C223F |
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 |
|
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'- AGGCAGCATACTCAGGATATG -3'
(R):5'- TGCGAATCCCGTTGACTTGG -3'
Sequencing Primer
(F):5'- CTCAGGATATGAATAAAGTTCCCCG -3'
(R):5'- CAATACTATCAAGTTCCCAGGGTCTG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation