Incidental Mutation 'R4806:Ints2'
| ID |
370690 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints2
|
| Ensembl Gene |
ENSMUSG00000018068 |
| Gene Name |
integrator complex subunit 2 |
| Synonyms |
2810417D08Rik |
| MMRRC Submission |
042425-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4806 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
86101507-86148401 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86147035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 37
(L37P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018212]
[ENSMUST00000108039]
[ENSMUST00000132024]
[ENSMUST00000136469]
[ENSMUST00000139285]
|
| AlphaFold |
Q80UK8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018212
AA Change: L37P
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000018212
Gene: ENSMUSG00000018068
AA Change: L37P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1131 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108039
AA Change: L37P
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000103674
Gene: ENSMUSG00000018068
AA Change: L37P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1132 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130614
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132024
AA Change: L37P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000114859
Gene: ENSMUSG00000018068
AA Change: L37P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
140 |
1e-48 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134883
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136469
AA Change: L37P
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000116633
Gene: ENSMUSG00000018068
AA Change: L37P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
98 |
6.5e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139285
AA Change: L37P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000119084
Gene: ENSMUSG00000018068
AA Change: L37P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
190 |
1.4e-69 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141756
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143819
|
| Meta Mutation Damage Score |
0.6127 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
100% (66/66) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
A |
G |
7: 27,265,070 (GRCm39) |
|
probably null |
Het |
| 2410137M14Rik |
T |
A |
17: 37,289,746 (GRCm39) |
H28L |
probably benign |
Het |
| 4930562C15Rik |
T |
C |
16: 4,667,536 (GRCm39) |
F309S |
unknown |
Het |
| Acd |
A |
G |
8: 106,424,922 (GRCm39) |
V406A |
possibly damaging |
Het |
| Acin1 |
A |
T |
14: 54,916,685 (GRCm39) |
|
probably benign |
Het |
| Agbl4 |
T |
C |
4: 110,812,834 (GRCm39) |
V118A |
probably damaging |
Het |
| Arhgap5 |
A |
G |
12: 52,565,486 (GRCm39) |
D819G |
probably damaging |
Het |
| BC049715 |
A |
T |
6: 136,816,927 (GRCm39) |
I56F |
possibly damaging |
Het |
| C1rb |
A |
T |
6: 124,551,908 (GRCm39) |
Q270L |
probably benign |
Het |
| Cadps2 |
C |
T |
6: 23,688,859 (GRCm39) |
R121Q |
probably damaging |
Het |
| Cd84 |
A |
G |
1: 171,679,688 (GRCm39) |
Y122C |
probably benign |
Het |
| Cklf |
C |
A |
8: 104,984,067 (GRCm39) |
P77T |
probably damaging |
Het |
| Clrn2 |
T |
C |
5: 45,611,346 (GRCm39) |
L65P |
probably damaging |
Het |
| Csde1 |
TCCTCGACCT |
TCCT |
3: 102,963,685 (GRCm39) |
|
probably benign |
Het |
| Csf2rb2 |
T |
C |
15: 78,169,490 (GRCm39) |
D446G |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 48,177,464 (GRCm39) |
E358G |
probably benign |
Het |
| Dmkn |
C |
T |
7: 30,470,667 (GRCm39) |
T385I |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,896,408 (GRCm39) |
T3591A |
probably damaging |
Het |
| Dpp9 |
A |
G |
17: 56,497,030 (GRCm39) |
L734P |
probably damaging |
Het |
| Edem2 |
A |
G |
2: 155,570,913 (GRCm39) |
V39A |
possibly damaging |
Het |
| Glmp |
A |
C |
3: 88,233,320 (GRCm39) |
|
probably benign |
Het |
| Gm20775 |
T |
C |
Y: 10,641,885 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr179 |
T |
G |
11: 97,240,610 (GRCm39) |
D271A |
possibly damaging |
Het |
| Gtf2ird1 |
A |
G |
5: 134,412,750 (GRCm39) |
V587A |
probably damaging |
Het |
| Igfn1 |
T |
A |
1: 135,895,095 (GRCm39) |
T1824S |
probably benign |
Het |
| Ighmbp2 |
A |
T |
19: 3,311,589 (GRCm39) |
I942N |
probably damaging |
Het |
| Irgq |
T |
A |
7: 24,233,470 (GRCm39) |
L437Q |
probably damaging |
Het |
| Kcnq4 |
A |
T |
4: 120,570,291 (GRCm39) |
W351R |
probably damaging |
Het |
| Kif3b |
G |
A |
2: 153,162,288 (GRCm39) |
A500T |
probably damaging |
Het |
| Lpp |
A |
G |
16: 24,480,430 (GRCm39) |
D66G |
probably damaging |
Het |
| Mapkap1 |
G |
A |
2: 34,487,434 (GRCm39) |
|
probably null |
Het |
| Mc4r |
T |
A |
18: 66,992,559 (GRCm39) |
I185F |
probably damaging |
Het |
| Mdga1 |
T |
C |
17: 30,061,128 (GRCm39) |
D621G |
probably benign |
Het |
| Med13 |
A |
G |
11: 86,189,403 (GRCm39) |
S1169P |
probably benign |
Het |
| Myh11 |
A |
T |
16: 14,018,947 (GRCm39) |
|
probably null |
Het |
| Naip1 |
G |
A |
13: 100,562,129 (GRCm39) |
A1012V |
probably benign |
Het |
| Ntn4 |
C |
T |
10: 93,480,362 (GRCm39) |
R29C |
probably damaging |
Het |
| Plb1 |
G |
A |
5: 32,447,196 (GRCm39) |
G321D |
probably damaging |
Het |
| Plxnd1 |
A |
G |
6: 115,937,816 (GRCm39) |
V1510A |
probably damaging |
Het |
| Polr1e |
T |
A |
4: 45,024,482 (GRCm39) |
M131K |
probably benign |
Het |
| Prdm10 |
T |
A |
9: 31,241,237 (GRCm39) |
*342R |
probably null |
Het |
| Prex2 |
T |
C |
1: 11,138,244 (GRCm39) |
F108L |
probably damaging |
Het |
| Psmg2 |
T |
A |
18: 67,781,992 (GRCm39) |
I186N |
probably benign |
Het |
| Ros1 |
T |
A |
10: 51,972,271 (GRCm39) |
E1614D |
probably damaging |
Het |
| Sin3a |
G |
A |
9: 56,994,026 (GRCm39) |
V44M |
probably damaging |
Het |
| Slco1a1 |
G |
A |
6: 141,854,735 (GRCm39) |
L639F |
possibly damaging |
Het |
| Smr2 |
T |
G |
5: 88,246,289 (GRCm39) |
L101* |
probably null |
Het |
| Spata31d1b |
C |
T |
13: 59,863,535 (GRCm39) |
P228S |
probably benign |
Het |
| Stat5b |
G |
T |
11: 100,681,623 (GRCm39) |
H544N |
probably benign |
Het |
| Syk |
A |
T |
13: 52,786,963 (GRCm39) |
Y319F |
probably benign |
Het |
| Tln2 |
G |
T |
9: 67,239,015 (GRCm39) |
T1087K |
probably benign |
Het |
| Tsc22d1 |
A |
G |
14: 76,654,428 (GRCm39) |
|
probably null |
Het |
| Vmn2r52 |
T |
A |
7: 9,893,169 (GRCm39) |
T657S |
probably damaging |
Het |
| Vmn2r63 |
A |
T |
7: 42,576,314 (GRCm39) |
S500T |
probably benign |
Het |
| Vps45 |
A |
C |
3: 95,953,725 (GRCm39) |
V209G |
probably benign |
Het |
| Xrcc1 |
C |
A |
7: 24,269,905 (GRCm39) |
A442E |
probably benign |
Het |
| Ythdc1 |
T |
A |
5: 86,970,704 (GRCm39) |
V430E |
probably damaging |
Het |
| Zfp341 |
G |
A |
2: 154,487,786 (GRCm39) |
|
probably benign |
Het |
| Zfp422 |
A |
T |
6: 116,603,623 (GRCm39) |
N125K |
probably damaging |
Het |
| Zfp53 |
T |
A |
17: 21,725,263 (GRCm39) |
D58E |
possibly damaging |
Het |
| Zfp707 |
C |
T |
15: 75,845,000 (GRCm39) |
Q66* |
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 |
|
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'- GCTGGCATCTTGTTCTAGAGC -3'
(R):5'- GCCAATGCAAGGACCTACTAAG -3'
Sequencing Primer
(F):5'- GTTCTAGAGCGTGGAAGTCC -3'
(R):5'- AAGGTTGTCATATATGTGGGAAGTAG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation