Incidental Mutation 'R4585:Ints2'
| ID |
344039 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints2
|
| Ensembl Gene |
ENSMUSG00000018068 |
| Gene Name |
integrator complex subunit 2 |
| Synonyms |
2810417D08Rik |
| MMRRC Submission |
041806-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4585 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
86210681-86257575 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 86249275 bp (GRCm38)
|
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
99% (90/91) |
| 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: 3,976,151 (GRCm38) |
S1269P |
probably benign |
Het |
| Akr7a5 |
G |
T |
4: 139,310,927 (GRCm38) |
R58L |
probably benign |
Het |
| Art2a |
A |
T |
7: 101,554,749 (GRCm38) |
L194* |
probably null |
Het |
| Aurkaip1 |
C |
A |
4: 155,832,634 (GRCm38) |
A113D |
possibly damaging |
Het |
| Bsn |
T |
C |
9: 108,110,463 (GRCm38) |
|
probably benign |
Het |
| Ccdc175 |
T |
G |
12: 72,175,179 (GRCm38) |
D123A |
possibly damaging |
Het |
| Ccdc7b |
A |
G |
8: 129,110,920 (GRCm38) |
T131A |
probably benign |
Het |
| Ccnt2 |
T |
C |
1: 127,803,029 (GRCm38) |
S548P |
probably damaging |
Het |
| Cep126 |
T |
C |
9: 8,103,337 (GRCm38) |
Q224R |
probably damaging |
Het |
| Cic |
A |
T |
7: 25,272,778 (GRCm38) |
I645L |
probably benign |
Het |
| Cngb1 |
C |
T |
8: 95,297,128 (GRCm38) |
|
probably null |
Het |
| Col13a1 |
T |
C |
10: 61,887,245 (GRCm38) |
|
probably null |
Het |
| Corin |
A |
T |
5: 72,329,699 (GRCm38) |
V706D |
probably damaging |
Het |
| Crebrf |
A |
G |
17: 26,762,255 (GRCm38) |
K535R |
probably damaging |
Het |
| Cuzd1 |
G |
A |
7: 131,314,800 (GRCm38) |
P310L |
probably damaging |
Het |
| Cxcr5 |
T |
A |
9: 44,514,145 (GRCm38) |
I72F |
probably benign |
Het |
| Dapp1 |
T |
C |
3: 137,939,171 (GRCm38) |
Q148R |
probably benign |
Het |
| Dcaf17 |
T |
A |
2: 71,088,580 (GRCm38) |
S499R |
probably benign |
Het |
| Defb3 |
A |
T |
8: 19,295,156 (GRCm38) |
I43F |
possibly damaging |
Het |
| Dlgap2 |
G |
A |
8: 14,727,999 (GRCm38) |
|
probably null |
Het |
| Dnah8 |
A |
G |
17: 30,751,567 (GRCm38) |
D2684G |
probably benign |
Het |
| Dnajc10 |
T |
G |
2: 80,347,778 (GRCm38) |
F710V |
probably damaging |
Het |
| Ep400 |
G |
A |
5: 110,753,859 (GRCm38) |
T464I |
probably damaging |
Het |
| Epc1 |
G |
A |
18: 6,441,157 (GRCm38) |
Q14* |
probably null |
Het |
| Eral1 |
A |
T |
11: 78,078,304 (GRCm38) |
N123K |
probably damaging |
Het |
| Ercc5 |
G |
A |
1: 44,158,857 (GRCm38) |
V145I |
probably benign |
Het |
| Evc |
A |
G |
5: 37,323,713 (GRCm38) |
S263P |
probably damaging |
Het |
| Fancc |
A |
T |
13: 63,347,564 (GRCm38) |
M182K |
probably benign |
Het |
| Fbxl3 |
G |
T |
14: 103,083,090 (GRCm38) |
A355E |
probably damaging |
Het |
| Glra3 |
C |
A |
8: 56,088,993 (GRCm38) |
T257K |
probably damaging |
Het |
| Gm12789 |
A |
G |
4: 101,989,962 (GRCm38) |
Y148C |
possibly damaging |
Het |
| Gm14393 |
C |
A |
2: 175,062,704 (GRCm38) |
|
probably benign |
Het |
| Gm19965 |
T |
A |
1: 116,821,778 (GRCm38) |
N396K |
probably benign |
Het |
| Gm27013 |
A |
T |
6: 130,521,040 (GRCm38) |
|
noncoding transcript |
Het |
| Gmcl1 |
A |
G |
6: 86,722,623 (GRCm38) |
S141P |
probably damaging |
Het |
| Gsdmd |
T |
A |
15: 75,865,751 (GRCm38) |
|
probably null |
Het |
| Gtf2a1 |
C |
T |
12: 91,562,926 (GRCm38) |
V338I |
possibly damaging |
Het |
| H2ac15 |
T |
C |
13: 21,753,712 (GRCm38) |
N39S |
possibly damaging |
Het |
| Hap1 |
G |
A |
11: 100,354,724 (GRCm38) |
T138M |
probably benign |
Het |
| Itgb4 |
T |
C |
11: 115,993,325 (GRCm38) |
V945A |
probably damaging |
Het |
| Itih2 |
C |
T |
2: 10,110,400 (GRCm38) |
S387N |
probably benign |
Het |
| Klra2 |
T |
A |
6: 131,230,157 (GRCm38) |
D163V |
probably benign |
Het |
| Lctl |
T |
C |
9: 64,131,600 (GRCm38) |
S324P |
probably damaging |
Het |
| Lrrc24 |
C |
A |
15: 76,723,689 (GRCm38) |
R43L |
probably damaging |
Het |
| Mogs |
G |
T |
6: 83,118,638 (GRCm38) |
R812L |
possibly damaging |
Het |
| Mroh5 |
T |
A |
15: 73,789,271 (GRCm38) |
T467S |
probably benign |
Het |
| Mtap |
G |
A |
4: 89,172,274 (GRCm38) |
V194I |
probably benign |
Het |
| Myoz1 |
A |
G |
14: 20,650,595 (GRCm38) |
W185R |
probably damaging |
Het |
| Nufip2 |
T |
C |
11: 77,741,728 (GRCm38) |
V690A |
unknown |
Het |
| Obox1 |
A |
T |
7: 15,556,227 (GRCm38) |
N165I |
possibly damaging |
Het |
| Or1j1 |
C |
T |
2: 36,812,525 (GRCm38) |
C189Y |
probably damaging |
Het |
| Or4b1d |
T |
A |
2: 90,138,214 (GRCm38) |
E308D |
probably benign |
Het |
| Or4c113 |
T |
G |
2: 89,055,154 (GRCm38) |
I91L |
possibly damaging |
Het |
| Or6c35 |
A |
G |
10: 129,333,273 (GRCm38) |
T131A |
probably benign |
Het |
| Pabpc6 |
A |
G |
17: 9,669,073 (GRCm38) |
L183P |
probably damaging |
Het |
| Pcdh15 |
C |
T |
10: 74,624,284 (GRCm38) |
R1355W |
probably damaging |
Het |
| Pcdhgb8 |
C |
A |
18: 37,762,360 (GRCm38) |
A161E |
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,633,885 (GRCm38) |
Y1127C |
probably damaging |
Het |
| Phc2 |
A |
T |
4: 128,743,510 (GRCm38) |
H563L |
probably damaging |
Het |
| Plekha2 |
C |
A |
8: 25,043,669 (GRCm38) |
E291* |
probably null |
Het |
| Qser1 |
C |
A |
2: 104,786,793 (GRCm38) |
V1225L |
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,315,024 (GRCm38) |
D1882E |
probably damaging |
Het |
| Rgs17 |
T |
C |
10: 5,842,596 (GRCm38) |
D70G |
probably benign |
Het |
| Runx1t1 |
A |
T |
4: 13,889,864 (GRCm38) |
T598S |
unknown |
Het |
| Scn2a |
T |
A |
2: 65,743,051 (GRCm38) |
|
probably null |
Het |
| Serpinb10 |
T |
A |
1: 107,547,049 (GRCm38) |
C314S |
probably benign |
Het |
| Setbp1 |
A |
C |
18: 79,086,949 (GRCm38) |
S23A |
probably benign |
Het |
| Sh3pxd2b |
A |
G |
11: 32,396,479 (GRCm38) |
D116G |
possibly damaging |
Het |
| Slc4a1 |
G |
T |
11: 102,361,419 (GRCm38) |
|
probably benign |
Het |
| Snx19 |
T |
C |
9: 30,440,195 (GRCm38) |
L155P |
probably damaging |
Het |
| Sox2 |
A |
G |
3: 34,651,044 (GRCm38) |
N210S |
probably benign |
Het |
| Spag6 |
T |
C |
2: 18,732,147 (GRCm38) |
|
probably null |
Het |
| Speer4b |
A |
T |
5: 27,498,038 (GRCm38) |
L154Q |
probably null |
Het |
| Strn3 |
T |
A |
12: 51,650,170 (GRCm38) |
E259D |
probably benign |
Het |
| Tenm1 |
G |
A |
X: 42,537,979 (GRCm38) |
Q1931* |
probably null |
Het |
| Trp53bp1 |
C |
G |
2: 121,207,951 (GRCm38) |
G1469R |
probably damaging |
Het |
| Ttc8 |
C |
A |
12: 98,982,530 (GRCm38) |
Q492K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,968,403 (GRCm38) |
H509R |
probably benign |
Het |
| Utrn |
T |
A |
10: 12,688,306 (GRCm38) |
H1270L |
probably benign |
Het |
| Vopp1 |
G |
A |
6: 57,754,548 (GRCm38) |
P153S |
probably damaging |
Het |
| Wdfy4 |
T |
A |
14: 33,087,955 (GRCm38) |
I1770F |
possibly damaging |
Het |
| Zfp14 |
G |
T |
7: 30,038,916 (GRCm38) |
Q215K |
probably damaging |
Het |
| Zfp473 |
A |
T |
7: 44,732,952 (GRCm38) |
Y651* |
probably null |
Het |
| Zfp735 |
G |
T |
11: 73,689,724 (GRCm38) |
E16D |
possibly 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 |
|
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 |
|
R8348:Ints2
|
UTSW |
11 |
86,255,423 (GRCm38) |
missense |
probably benign |
|
|
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'- CTCAAGTTCAGAGGAAAAGAGCTC -3'
(R):5'- AGGGTCTGCCTTCTACACTG -3'
Sequencing Primer
(F):5'- TTCAGAGGAAAAGAGCTCACAAAAC -3'
(R):5'- AGGGTCTGCCTTCTACACTGTTTAAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation