Incidental Mutation 'R5875:Ints2'
ID |
455486 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ints2
|
Ensembl Gene |
ENSMUSG00000018068 |
Gene Name |
integrator complex subunit 2 |
Synonyms |
2810417D08Rik |
MMRRC Submission |
044082-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5875 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
86101507-86148401 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86129138 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 482
(S482G)
|
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: S482G
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000018212 Gene: ENSMUSG00000018068 AA Change: S482G
Domain | Start | End | E-Value | Type |
Pfam:INTS2
|
24 |
1131 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108039
AA Change: S482G
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000103674 Gene: ENSMUSG00000018068 AA Change: S482G
Domain | Start | End | E-Value | Type |
Pfam:INTS2
|
24 |
1132 |
N/A |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127745
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134883
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143819
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 91.9%
|
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 |
1810024B03Rik |
A |
G |
2: 127,028,737 (GRCm39) |
V154A |
possibly damaging |
Het |
Abcc1 |
A |
G |
16: 14,284,901 (GRCm39) |
E1250G |
possibly damaging |
Het |
Ajap1 |
A |
C |
4: 153,516,798 (GRCm39) |
I181R |
probably damaging |
Het |
Akap9 |
A |
G |
5: 4,127,285 (GRCm39) |
Y3711C |
probably benign |
Het |
Ark2c |
T |
C |
18: 77,650,877 (GRCm39) |
|
probably benign |
Het |
Arl1 |
T |
C |
10: 88,577,841 (GRCm39) |
S137P |
probably benign |
Het |
Atp6v0a2 |
G |
A |
5: 124,793,391 (GRCm39) |
V583I |
probably benign |
Het |
Cdca7 |
T |
A |
2: 72,313,901 (GRCm39) |
M230K |
probably benign |
Het |
Chd9 |
A |
T |
8: 91,778,464 (GRCm39) |
D2841V |
probably damaging |
Het |
Chp1 |
T |
A |
2: 119,402,296 (GRCm39) |
F90Y |
probably damaging |
Het |
Ckap5 |
A |
G |
2: 91,391,206 (GRCm39) |
T345A |
probably benign |
Het |
Clca4b |
A |
C |
3: 144,628,650 (GRCm39) |
S352R |
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,231,692 (GRCm39) |
V1132A |
probably benign |
Het |
Crb2 |
T |
A |
2: 37,677,266 (GRCm39) |
|
probably null |
Het |
Crhbp |
A |
G |
13: 95,580,304 (GRCm39) |
F99L |
probably benign |
Het |
Dnmt3l |
A |
T |
10: 77,889,772 (GRCm39) |
M210L |
probably benign |
Het |
Dyrk2 |
T |
A |
10: 118,696,602 (GRCm39) |
R219W |
probably damaging |
Het |
Exosc1 |
A |
G |
19: 41,916,542 (GRCm39) |
I78T |
probably damaging |
Het |
Exosc9 |
T |
C |
3: 36,615,342 (GRCm39) |
|
probably null |
Het |
Frmd5 |
A |
G |
2: 121,388,959 (GRCm39) |
|
probably benign |
Het |
Gata2 |
T |
C |
6: 88,179,473 (GRCm39) |
L315P |
probably damaging |
Het |
Gm17067 |
G |
A |
7: 42,357,470 (GRCm39) |
T344I |
probably benign |
Het |
Gm4884 |
A |
T |
7: 40,692,360 (GRCm39) |
T110S |
possibly damaging |
Het |
Hapln3 |
T |
C |
7: 78,771,721 (GRCm39) |
E56G |
probably benign |
Het |
Helq |
A |
C |
5: 100,944,336 (GRCm39) |
I258S |
probably damaging |
Het |
Hoxd10 |
T |
C |
2: 74,522,426 (GRCm39) |
Y35H |
possibly damaging |
Het |
Inpp5b |
T |
C |
4: 124,674,199 (GRCm39) |
V302A |
possibly damaging |
Het |
Inpp5d |
T |
A |
1: 87,645,696 (GRCm39) |
I1027N |
possibly damaging |
Het |
Itih1 |
C |
T |
14: 30,651,487 (GRCm39) |
V902I |
probably benign |
Het |
Jkampl |
T |
C |
6: 73,446,028 (GRCm39) |
I174V |
possibly damaging |
Het |
Kctd16 |
T |
A |
18: 40,390,447 (GRCm39) |
|
probably benign |
Het |
Kif27 |
T |
C |
13: 58,458,918 (GRCm39) |
N971S |
probably benign |
Het |
Klra17 |
T |
C |
6: 129,851,791 (GRCm39) |
D27G |
probably benign |
Het |
Leo1 |
G |
C |
9: 75,357,842 (GRCm39) |
R412S |
probably damaging |
Het |
Lonrf2 |
T |
C |
1: 38,846,128 (GRCm39) |
N348S |
probably benign |
Het |
Lpp |
G |
A |
16: 24,427,059 (GRCm39) |
G62E |
probably benign |
Het |
Lyn |
G |
A |
4: 3,745,631 (GRCm39) |
|
probably null |
Het |
Macf1 |
T |
A |
4: 123,326,107 (GRCm39) |
N5128I |
possibly damaging |
Het |
Mapk7 |
T |
A |
11: 61,384,524 (GRCm39) |
I61L |
probably benign |
Het |
Mindy1 |
T |
C |
3: 95,202,125 (GRCm39) |
V334A |
probably damaging |
Het |
Muc20 |
G |
A |
16: 32,614,189 (GRCm39) |
T396I |
possibly damaging |
Het |
Myo5b |
A |
T |
18: 74,840,973 (GRCm39) |
|
probably null |
Het |
Noc4l |
A |
C |
5: 110,799,176 (GRCm39) |
|
probably null |
Het |
Oas1c |
A |
G |
5: 120,943,627 (GRCm39) |
Y171H |
probably damaging |
Het |
Pclo |
A |
T |
5: 14,730,614 (GRCm39) |
|
probably benign |
Het |
Pmpcb |
G |
A |
5: 21,947,944 (GRCm39) |
E216K |
probably benign |
Het |
Pskh1 |
G |
A |
8: 106,639,731 (GRCm39) |
R137Q |
possibly damaging |
Het |
Ptprb |
T |
G |
10: 116,184,071 (GRCm39) |
W1628G |
probably benign |
Het |
Ranbp3 |
T |
A |
17: 57,014,955 (GRCm39) |
|
probably null |
Het |
Sart1 |
T |
C |
19: 5,433,823 (GRCm39) |
D338G |
probably damaging |
Het |
Scn8a |
T |
A |
15: 100,870,703 (GRCm39) |
Y251* |
probably null |
Het |
Sdk2 |
G |
T |
11: 113,720,885 (GRCm39) |
T1348K |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,323,379 (GRCm39) |
Y1272H |
probably damaging |
Het |
Slc26a1 |
A |
T |
5: 108,819,903 (GRCm39) |
L432Q |
probably damaging |
Het |
Susd1 |
A |
T |
4: 59,412,203 (GRCm39) |
F117I |
possibly damaging |
Het |
Taf5 |
A |
T |
19: 47,064,549 (GRCm39) |
Y465F |
probably damaging |
Het |
Tcstv1a |
T |
A |
13: 120,355,630 (GRCm39) |
M1L |
probably benign |
Het |
Tectb |
A |
G |
19: 55,178,058 (GRCm39) |
D193G |
possibly damaging |
Het |
Tex56 |
T |
G |
13: 35,116,429 (GRCm39) |
C59W |
probably damaging |
Het |
Tirap |
G |
A |
9: 35,100,465 (GRCm39) |
P73L |
probably damaging |
Het |
Tm6sf2 |
A |
G |
8: 70,528,039 (GRCm39) |
D86G |
possibly damaging |
Het |
Tmem161b |
A |
T |
13: 84,442,977 (GRCm39) |
H481L |
probably damaging |
Het |
Tnrc6c |
G |
A |
11: 117,650,534 (GRCm39) |
V1763I |
probably damaging |
Het |
Ubxn1 |
T |
C |
19: 8,849,584 (GRCm39) |
S75P |
probably benign |
Het |
Uhrf2 |
A |
G |
19: 30,066,702 (GRCm39) |
K709E |
probably damaging |
Het |
Vmn2r101 |
T |
A |
17: 19,809,092 (GRCm39) |
Y74N |
probably damaging |
Het |
Xirp2 |
A |
G |
2: 67,335,424 (GRCm39) |
E81G |
probably benign |
Het |
Zbtb45 |
A |
G |
7: 12,742,237 (GRCm39) |
V7A |
possibly damaging |
Het |
Zfp668 |
C |
A |
7: 127,465,474 (GRCm39) |
R570L |
possibly damaging |
Het |
Zmiz1 |
T |
A |
14: 25,636,390 (GRCm39) |
M125K |
possibly damaging |
Het |
Zmiz2 |
T |
C |
11: 6,355,072 (GRCm39) |
L913P |
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 |
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 |
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'- GGAGAAACGGCATCCTTGTC -3'
(R):5'- TCAAGGAAGAGGCGTACTTTG -3'
Sequencing Primer
(F):5'- GAAACGGCATCCTTGTCAGGTTAC -3'
(R):5'- TACTTTGAGAGGTAGGGCAAGC -3'
|
Posted On |
2017-02-10 |