Incidental Mutation 'R7132:Ints2'
| ID |
552763 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints2
|
| Ensembl Gene |
ENSMUSG00000018068 |
| Gene Name |
integrator complex subunit 2 |
| Synonyms |
2810417D08Rik |
| MMRRC Submission |
045217-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7132 (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 T
at 86108580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 922
(N922K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018212]
[ENSMUST00000108039]
|
| AlphaFold |
Q80UK8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018212
AA Change: N922K
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000018212
Gene: ENSMUSG00000018068
AA Change: N922K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1131 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108039
AA Change: N922K
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103674
Gene: ENSMUSG00000018068
AA Change: N922K
| 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: 100.0%
- 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
C |
T |
10: 69,825,744 (GRCm39) |
A1471V |
|
Het |
| Ankrd12 |
C |
A |
17: 66,290,242 (GRCm39) |
M1730I |
probably benign |
Het |
| Ap2a2 |
T |
C |
7: 141,199,478 (GRCm39) |
Y462H |
probably benign |
Het |
| Ap5b1 |
T |
A |
19: 5,619,412 (GRCm39) |
Y277* |
probably null |
Het |
| App |
T |
C |
16: 84,853,370 (GRCm39) |
D236G |
unknown |
Het |
| Arid2 |
A |
T |
15: 96,247,894 (GRCm39) |
K102I |
possibly damaging |
Het |
| Asl |
A |
G |
5: 130,043,543 (GRCm39) |
V211A |
possibly damaging |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cbx2 |
A |
G |
11: 118,913,947 (GRCm39) |
S5G |
probably benign |
Het |
| Ccdc183 |
A |
G |
2: 25,506,542 (GRCm39) |
|
probably null |
Het |
| Cd72 |
T |
C |
4: 43,452,444 (GRCm39) |
Q183R |
possibly damaging |
Het |
| Cdh26 |
T |
A |
2: 178,128,555 (GRCm39) |
D702E |
possibly damaging |
Het |
| Cfap61 |
A |
T |
2: 145,951,870 (GRCm39) |
N784I |
probably damaging |
Het |
| Cgrrf1 |
G |
A |
14: 47,091,321 (GRCm39) |
V282M |
probably damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Cobll1 |
T |
G |
2: 64,964,112 (GRCm39) |
K170Q |
probably damaging |
Het |
| Copg2 |
A |
T |
6: 30,792,931 (GRCm39) |
V468D |
probably benign |
Het |
| Cracr2b |
C |
T |
7: 141,043,651 (GRCm39) |
A84V |
probably benign |
Het |
| Cyp2f2 |
A |
T |
7: 26,831,993 (GRCm39) |
D416V |
probably benign |
Het |
| Dcaf10 |
T |
C |
4: 45,342,391 (GRCm39) |
F75S |
probably benign |
Het |
| Eml3 |
G |
T |
19: 8,918,392 (GRCm39) |
A829S |
probably benign |
Het |
| Entpd3 |
A |
G |
9: 120,390,086 (GRCm39) |
T402A |
probably benign |
Het |
| Fer1l4 |
A |
T |
2: 155,887,546 (GRCm39) |
V550E |
probably damaging |
Het |
| Fgb |
G |
A |
3: 82,954,053 (GRCm39) |
R62* |
probably null |
Het |
| Fubp1 |
T |
A |
3: 151,937,661 (GRCm39) |
|
probably null |
Het |
| Gdf3 |
A |
C |
6: 122,583,283 (GRCm39) |
D361E |
probably damaging |
Het |
| Gm6685 |
A |
T |
11: 28,289,330 (GRCm39) |
I162N |
probably damaging |
Het |
| Hmx2 |
A |
G |
7: 131,157,645 (GRCm39) |
Y253C |
probably damaging |
Het |
| Ipo7 |
C |
T |
7: 109,653,254 (GRCm39) |
L984F |
probably benign |
Het |
| Itgae |
A |
T |
11: 73,002,184 (GRCm39) |
Y96F |
possibly damaging |
Het |
| Kalrn |
A |
G |
16: 34,076,597 (GRCm39) |
V697A |
unknown |
Het |
| Kctd18 |
G |
A |
1: 58,006,737 (GRCm39) |
R38* |
probably null |
Het |
| Kdm5b |
A |
G |
1: 134,526,844 (GRCm39) |
D322G |
probably damaging |
Het |
| Ldb3 |
A |
G |
14: 34,298,992 (GRCm39) |
Y211H |
probably benign |
Het |
| Limch1 |
T |
C |
5: 67,111,028 (GRCm39) |
F85S |
probably damaging |
Het |
| Lrrn4 |
A |
T |
2: 132,721,613 (GRCm39) |
L68* |
probably null |
Het |
| Lrwd1 |
A |
G |
5: 136,152,129 (GRCm39) |
V616A |
possibly damaging |
Het |
| Nars1 |
A |
G |
18: 64,640,841 (GRCm39) |
|
probably null |
Het |
| Nradd |
T |
C |
9: 110,451,329 (GRCm39) |
D13G |
probably benign |
Het |
| Oacyl |
A |
T |
18: 65,831,480 (GRCm39) |
N39I |
probably damaging |
Het |
| Onecut2 |
A |
T |
18: 64,473,983 (GRCm39) |
H178L |
possibly damaging |
Het |
| Or9i14 |
T |
A |
19: 13,792,786 (GRCm39) |
Q56L |
probably benign |
Het |
| Pcdhga4 |
A |
C |
18: 37,820,430 (GRCm39) |
T660P |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pitpnm3 |
T |
A |
11: 71,942,102 (GRCm39) |
I902F |
possibly damaging |
Het |
| Plod3 |
T |
C |
5: 137,023,971 (GRCm39) |
L180S |
|
Het |
| Prrc2c |
A |
T |
1: 162,508,850 (GRCm39) |
H2354Q |
possibly damaging |
Het |
| Pth2r |
A |
G |
1: 65,361,225 (GRCm39) |
E58G |
probably benign |
Het |
| Rev1 |
G |
T |
1: 38,110,530 (GRCm39) |
D573E |
possibly damaging |
Het |
| Sec24a |
A |
T |
11: 51,605,963 (GRCm39) |
L696* |
probably null |
Het |
| Serpinb3c |
A |
G |
1: 107,204,681 (GRCm39) |
S22P |
probably damaging |
Het |
| St18 |
A |
T |
1: 6,929,351 (GRCm39) |
H81L |
|
Het |
| Stard9 |
A |
T |
2: 120,509,859 (GRCm39) |
K266* |
probably null |
Het |
| Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
| Syne1 |
G |
A |
10: 5,193,180 (GRCm39) |
A3956V |
probably damaging |
Het |
| Tcp10a |
C |
T |
17: 7,612,351 (GRCm39) |
T381I |
probably benign |
Het |
| Tecpr2 |
T |
A |
12: 110,881,806 (GRCm39) |
V125D |
probably damaging |
Het |
| Tmc2 |
T |
C |
2: 130,074,329 (GRCm39) |
S341P |
possibly damaging |
Het |
| Tmem190 |
G |
A |
7: 4,787,224 (GRCm39) |
V143I |
probably benign |
Het |
| Trap1 |
A |
G |
16: 3,873,693 (GRCm39) |
Y288H |
probably benign |
Het |
| Trim39 |
T |
C |
17: 36,571,547 (GRCm39) |
T404A |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,576,043 (GRCm39) |
K24950I |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,774,696 (GRCm39) |
N2161K |
unknown |
Het |
| Unc13b |
T |
C |
4: 43,215,757 (GRCm39) |
S19P |
probably benign |
Het |
| Uqcrc1 |
T |
A |
9: 108,778,536 (GRCm39) |
I471N |
probably damaging |
Het |
| Wbp11 |
T |
C |
6: 136,798,540 (GRCm39) |
T170A |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,152,026 (GRCm39) |
I177V |
probably benign |
Het |
| Zfp455 |
C |
A |
13: 67,347,230 (GRCm39) |
P51T |
probably damaging |
Het |
| Zfp946 |
T |
C |
17: 22,673,644 (GRCm39) |
Y133H |
probably benign |
Het |
| Zfp955a |
A |
T |
17: 33,460,589 (GRCm39) |
Y514* |
probably null |
Het |
| Zzef1 |
T |
C |
11: 72,808,697 (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 |
|
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'- ATAAGGTCTGTCTCCAACATCC -3'
(R):5'- TTCATCATTGTGCGGCATGC -3'
Sequencing Primer
(F):5'- TGCCACACAGGTGTCCAATAATATG -3'
(R):5'- TAGGTGTCCCCCACTAATGG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation