Incidental Mutation 'R1987:Ints2'
| ID |
222694 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints2
|
| Ensembl Gene |
ENSMUSG00000018068 |
| Gene Name |
integrator complex subunit 2 |
| Synonyms |
2810417D08Rik |
| MMRRC Submission |
039999-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1987 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
86101507-86148401 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86108626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 907
(V907D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103674
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018212]
[ENSMUST00000108039]
|
| AlphaFold |
Q80UK8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018212
AA Change: V907D
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000018212
Gene: ENSMUSG00000018068
AA Change: V907D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1131 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108039
AA Change: V907D
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000103674
Gene: ENSMUSG00000018068
AA Change: V907D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1132 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134828
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143819
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.6%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
T |
19: 8,992,615 (GRCm39) |
D4633V |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,187,578 (GRCm39) |
F1664S |
possibly damaging |
Het |
| Arhgef28 |
T |
C |
13: 98,103,604 (GRCm39) |
M803V |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,008,134 (GRCm39) |
|
probably null |
Het |
| Bltp2 |
A |
T |
11: 78,158,993 (GRCm39) |
Q433L |
probably damaging |
Het |
| Ccdc73 |
T |
A |
2: 104,761,390 (GRCm39) |
L130* |
probably null |
Het |
| Ccdc73 |
A |
G |
2: 104,829,504 (GRCm39) |
E1059G |
probably damaging |
Het |
| Ccer2 |
A |
C |
7: 28,456,708 (GRCm39) |
S151R |
possibly damaging |
Het |
| Cep128 |
T |
A |
12: 91,197,603 (GRCm39) |
H406L |
probably benign |
Het |
| Cep135 |
A |
G |
5: 76,745,275 (GRCm39) |
D229G |
probably benign |
Het |
| Cpvl |
T |
A |
6: 53,931,596 (GRCm39) |
D103V |
probably benign |
Het |
| Crppa |
T |
A |
12: 36,571,995 (GRCm39) |
L301Q |
probably damaging |
Het |
| Cstdc6 |
C |
A |
16: 36,142,194 (GRCm39) |
G61C |
probably damaging |
Het |
| Disp3 |
G |
A |
4: 148,343,210 (GRCm39) |
A567V |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,343,737 (GRCm39) |
I2379T |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,072,027 (GRCm39) |
Y2433C |
probably damaging |
Het |
| Dock3 |
A |
G |
9: 106,985,620 (GRCm39) |
I85T |
probably benign |
Het |
| Dock9 |
A |
C |
14: 121,829,242 (GRCm39) |
S1380A |
probably benign |
Het |
| Erbin |
T |
C |
13: 104,022,711 (GRCm39) |
T43A |
probably benign |
Het |
| Fastkd3 |
T |
C |
13: 68,733,360 (GRCm39) |
V502A |
possibly damaging |
Het |
| Fn1 |
T |
C |
1: 71,690,784 (GRCm39) |
H59R |
probably damaging |
Het |
| Fsd2 |
A |
G |
7: 81,209,407 (GRCm39) |
V145A |
possibly damaging |
Het |
| Fzr1 |
A |
G |
10: 81,206,153 (GRCm39) |
V178A |
probably damaging |
Het |
| Gnpnat1 |
T |
C |
14: 45,618,455 (GRCm39) |
R116G |
probably damaging |
Het |
| Grm7 |
T |
A |
6: 110,891,472 (GRCm39) |
V235E |
probably damaging |
Het |
| Hdac4 |
A |
C |
1: 91,862,367 (GRCm39) |
N1002K |
probably damaging |
Het |
| Hey1 |
C |
T |
3: 8,729,957 (GRCm39) |
A167T |
probably benign |
Het |
| Hrnr |
A |
G |
3: 93,239,911 (GRCm39) |
N3383S |
unknown |
Het |
| Jchain |
T |
A |
5: 88,669,326 (GRCm39) |
Q109L |
probably damaging |
Het |
| Klhdc7a |
A |
T |
4: 139,693,335 (GRCm39) |
Y537* |
probably null |
Het |
| Klra1 |
C |
T |
6: 130,354,742 (GRCm39) |
S92N |
probably benign |
Het |
| Krt31 |
C |
T |
11: 99,940,406 (GRCm39) |
G150S |
probably benign |
Het |
| Lrrc71 |
G |
A |
3: 87,649,950 (GRCm39) |
T326M |
probably benign |
Het |
| Lrrn4 |
T |
C |
2: 132,712,363 (GRCm39) |
T487A |
probably benign |
Het |
| Map4k5 |
T |
G |
12: 69,889,686 (GRCm39) |
R198S |
probably damaging |
Het |
| Men1 |
G |
A |
19: 6,388,867 (GRCm39) |
C354Y |
probably damaging |
Het |
| Ms4a18 |
A |
T |
19: 10,991,019 (GRCm39) |
V25E |
probably damaging |
Het |
| Mutyh |
T |
A |
4: 116,676,565 (GRCm39) |
S512R |
possibly damaging |
Het |
| Myh10 |
G |
T |
11: 68,705,322 (GRCm39) |
A1947S |
possibly damaging |
Het |
| Nfasc |
T |
C |
1: 132,538,624 (GRCm39) |
D427G |
probably damaging |
Het |
| Nlrp9c |
A |
G |
7: 26,077,481 (GRCm39) |
M767T |
probably benign |
Het |
| Nrbp1 |
T |
C |
5: 31,402,735 (GRCm39) |
L185P |
probably damaging |
Het |
| Pcdh9 |
G |
A |
14: 94,125,741 (GRCm39) |
P143L |
probably damaging |
Het |
| Pcsk6 |
A |
T |
7: 65,577,035 (GRCm39) |
M158L |
possibly damaging |
Het |
| Pkd1 |
G |
T |
17: 24,795,566 (GRCm39) |
|
probably null |
Het |
| Plk4 |
A |
T |
3: 40,760,252 (GRCm39) |
S383C |
possibly damaging |
Het |
| Plxna2 |
T |
C |
1: 194,326,297 (GRCm39) |
L77P |
probably damaging |
Het |
| Pnpla6 |
A |
T |
8: 3,592,370 (GRCm39) |
T1209S |
probably benign |
Het |
| Prdm2 |
A |
G |
4: 142,859,079 (GRCm39) |
S1404P |
possibly damaging |
Het |
| Preb |
T |
C |
5: 31,116,157 (GRCm39) |
D150G |
probably damaging |
Het |
| Prrt2 |
A |
G |
7: 126,617,902 (GRCm39) |
V59A |
probably benign |
Het |
| Prss40 |
T |
C |
1: 34,597,095 (GRCm39) |
N151S |
possibly damaging |
Het |
| Ptprt |
G |
T |
2: 161,400,818 (GRCm39) |
A1053D |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,608,241 (GRCm39) |
V685A |
possibly damaging |
Het |
| Rfx4 |
C |
T |
10: 84,731,952 (GRCm39) |
S549F |
possibly damaging |
Het |
| Rnaset2b |
T |
A |
17: 7,263,876 (GRCm39) |
V87E |
probably benign |
Het |
| Rnf213 |
G |
A |
11: 119,331,933 (GRCm39) |
E2381K |
probably damaging |
Het |
| Sectm1a |
A |
T |
11: 120,960,506 (GRCm39) |
I103N |
probably damaging |
Het |
| Selp |
T |
A |
1: 163,970,327 (GRCm39) |
L597Q |
probably damaging |
Het |
| Sema6a |
T |
C |
18: 47,433,209 (GRCm39) |
D74G |
probably damaging |
Het |
| Serpinb9b |
T |
C |
13: 33,213,542 (GRCm39) |
V33A |
probably benign |
Het |
| Setd1b |
A |
T |
5: 123,285,769 (GRCm39) |
T272S |
unknown |
Het |
| Sgf29 |
G |
C |
7: 126,248,649 (GRCm39) |
|
probably null |
Het |
| Slc4a10 |
C |
A |
2: 62,098,548 (GRCm39) |
Q561K |
probably damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,250,214 (GRCm39) |
I649T |
possibly damaging |
Het |
| Slc5a7 |
A |
G |
17: 54,600,863 (GRCm39) |
Y91H |
probably damaging |
Het |
| Styxl1 |
T |
C |
5: 135,785,976 (GRCm39) |
Y23C |
probably damaging |
Het |
| Tbc1d24 |
A |
G |
17: 24,425,846 (GRCm39) |
V490A |
possibly damaging |
Het |
| Tbpl2 |
A |
T |
2: 23,984,744 (GRCm39) |
F133L |
probably benign |
Het |
| Tnfrsf22 |
T |
C |
7: 143,192,126 (GRCm39) |
|
probably benign |
Het |
| Top2b |
A |
G |
14: 16,398,916 (GRCm38) |
E512G |
probably damaging |
Het |
| Trgc3 |
C |
A |
13: 19,445,164 (GRCm39) |
F37L |
probably damaging |
Het |
| Ttc17 |
T |
A |
2: 94,194,690 (GRCm39) |
H561L |
probably benign |
Het |
| Ttll4 |
G |
T |
1: 74,724,527 (GRCm39) |
V566L |
possibly damaging |
Het |
| Ubqlnl |
A |
G |
7: 103,797,692 (GRCm39) |
Y602H |
probably benign |
Het |
| Vmn1r231 |
T |
A |
17: 21,110,212 (GRCm39) |
E234D |
probably damaging |
Het |
| Wbp11 |
A |
G |
6: 136,797,583 (GRCm39) |
S279P |
probably damaging |
Het |
| Wdr6 |
A |
G |
9: 108,453,733 (GRCm39) |
L50P |
probably damaging |
Het |
| Zfp715 |
A |
C |
7: 42,948,073 (GRCm39) |
I629S |
possibly 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 |
|
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 |
|
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'- TATAAGGTCTGTCTCCAACATCC -3'
(R):5'- TCATCATTGTGCGGCATGC -3'
Sequencing Primer
(F):5'- TGCCACACAGGTGTCCAATAATATG -3'
(R):5'- GCGGCATGCATTTCTAGTTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation