Incidental Mutation 'R9154:Ints2'
| ID |
695261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints2
|
| Ensembl Gene |
ENSMUSG00000018068 |
| Gene Name |
integrator complex subunit 2 |
| Synonyms |
2810417D08Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9154 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
86101507-86148401 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86125524 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 559
(F559L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018212]
[ENSMUST00000108039]
|
| AlphaFold |
Q80UK8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018212
AA Change: F559L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018212
Gene: ENSMUSG00000018068
AA Change: F559L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1131 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108039
AA Change: F559L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103674
Gene: ENSMUSG00000018068
AA Change: F559L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1132 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
T |
C |
6: 91,926,926 (GRCm39) |
V862A |
probably benign |
Het |
| A2m |
A |
T |
6: 121,645,512 (GRCm39) |
K1019M |
probably damaging |
Het |
| Acot6 |
G |
T |
12: 84,147,789 (GRCm39) |
W15L |
possibly damaging |
Het |
| Adam32 |
CCAGCAGCAGCAGCAGCAG |
CCAGCAGCAGCAGCAG |
8: 25,438,769 (GRCm39) |
|
probably benign |
Het |
| Adnp |
C |
A |
2: 168,026,580 (GRCm39) |
Q238H |
possibly damaging |
Het |
| Akap7 |
T |
C |
10: 25,047,053 (GRCm39) |
Y281C |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,605,387 (GRCm39) |
E1085G |
probably damaging |
Het |
| Arhgef38 |
A |
T |
3: 132,837,924 (GRCm39) |
S669T |
unknown |
Het |
| Atp8b2 |
A |
T |
3: 89,865,927 (GRCm39) |
S50R |
possibly damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,372,630 (GRCm39) |
I1090T |
probably benign |
Het |
| Ccdc198 |
A |
T |
14: 49,473,367 (GRCm39) |
H129Q |
probably benign |
Het |
| Chrna4 |
G |
A |
2: 180,670,602 (GRCm39) |
R385C |
probably damaging |
Het |
| Col4a1 |
T |
A |
8: 11,267,446 (GRCm39) |
I1105F |
probably damaging |
Het |
| Crybg2 |
G |
A |
4: 133,792,620 (GRCm39) |
R85Q |
probably benign |
Het |
| Cspg4 |
T |
A |
9: 56,798,287 (GRCm39) |
L1434Q |
|
Het |
| Cyp3a13 |
T |
C |
5: 137,919,758 (GRCm39) |
N6S |
probably benign |
Het |
| Dnase2b |
A |
T |
3: 146,299,326 (GRCm39) |
Y42* |
probably null |
Het |
| F11r |
A |
G |
1: 171,289,376 (GRCm39) |
E233G |
probably damaging |
Het |
| Fip1l1 |
T |
C |
5: 74,747,703 (GRCm39) |
I390T |
possibly damaging |
Het |
| Fiz1 |
G |
A |
7: 5,011,280 (GRCm39) |
R413C |
probably damaging |
Het |
| Fus |
G |
A |
7: 127,580,440 (GRCm39) |
G450E |
unknown |
Het |
| Gm11569 |
C |
A |
11: 99,689,267 (GRCm39) |
C144F |
unknown |
Het |
| Gm7298 |
A |
T |
6: 121,756,436 (GRCm39) |
Y1027F |
probably damaging |
Het |
| Grik5 |
C |
A |
7: 24,758,403 (GRCm39) |
W340L |
probably damaging |
Het |
| H1f2 |
A |
G |
13: 23,923,373 (GRCm39) |
K181R |
unknown |
Het |
| Hectd4 |
G |
A |
5: 121,391,967 (GRCm39) |
R77H |
|
Het |
| Ift81 |
C |
A |
5: 122,689,122 (GRCm39) |
V665L |
probably benign |
Het |
| Kdm8 |
G |
A |
7: 125,054,296 (GRCm39) |
V176I |
probably benign |
Het |
| Keap1 |
A |
T |
9: 21,142,121 (GRCm39) |
Y584* |
probably null |
Het |
| Klra1 |
T |
C |
6: 130,357,607 (GRCm39) |
T7A |
|
Het |
| Lmo7 |
T |
A |
14: 102,122,743 (GRCm39) |
W311R |
probably damaging |
Het |
| Lrp6 |
A |
G |
6: 134,518,855 (GRCm39) |
V70A |
probably damaging |
Het |
| Luc7l3 |
A |
T |
11: 94,190,793 (GRCm39) |
S174T |
unknown |
Het |
| Madd |
T |
C |
2: 90,998,162 (GRCm39) |
T653A |
probably damaging |
Het |
| Mlph |
G |
T |
1: 90,855,716 (GRCm39) |
G41V |
probably damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,896,118 (GRCm39) |
E654G |
possibly damaging |
Het |
| Mpp3 |
T |
C |
11: 101,911,328 (GRCm39) |
I165V |
|
Het |
| Mrgpra2a |
T |
G |
7: 47,076,394 (GRCm39) |
Y288S |
probably damaging |
Het |
| Mroh9 |
T |
A |
1: 162,890,030 (GRCm39) |
M236L |
|
Het |
| Muc5b |
A |
C |
7: 141,417,974 (GRCm39) |
K3640T |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,253,318 (GRCm39) |
I1485V |
probably benign |
Het |
| Nf2 |
A |
T |
11: 4,744,873 (GRCm39) |
F285L |
probably damaging |
Het |
| Nfx1 |
T |
A |
4: 40,990,845 (GRCm39) |
C471S |
probably damaging |
Het |
| Nsd1 |
C |
T |
13: 55,361,253 (GRCm39) |
R74W |
probably damaging |
Het |
| Nudt16l1 |
A |
T |
16: 4,758,281 (GRCm39) |
*212C |
probably null |
Het |
| Oaf |
T |
C |
9: 43,133,992 (GRCm39) |
Y243C |
probably damaging |
Het |
| Or51e1 |
T |
C |
7: 102,358,541 (GRCm39) |
V25A |
probably benign |
Het |
| Or6c3 |
T |
C |
10: 129,308,690 (GRCm39) |
I43T |
probably benign |
Het |
| Or7g30 |
T |
A |
9: 19,352,531 (GRCm39) |
F107L |
probably benign |
Het |
| Or7h8 |
A |
G |
9: 20,124,173 (GRCm39) |
H176R |
possibly damaging |
Het |
| Or8b36 |
T |
A |
9: 37,937,690 (GRCm39) |
L196* |
probably null |
Het |
| Parp9 |
T |
C |
16: 35,768,543 (GRCm39) |
I241T |
probably damaging |
Het |
| Phlpp2 |
G |
T |
8: 110,666,590 (GRCm39) |
A1040S |
possibly damaging |
Het |
| Pon2 |
A |
T |
6: 5,265,391 (GRCm39) |
V332E |
possibly damaging |
Het |
| Ptprc |
A |
G |
1: 138,016,302 (GRCm39) |
V544A |
probably damaging |
Het |
| Rfx6 |
A |
G |
10: 51,597,600 (GRCm39) |
S446G |
probably benign |
Het |
| Rnf103 |
T |
A |
6: 71,487,099 (GRCm39) |
C577S |
probably benign |
Het |
| Ros1 |
T |
G |
10: 51,922,301 (GRCm39) |
E2278D |
possibly damaging |
Het |
| Rpl37 |
A |
G |
15: 5,147,109 (GRCm39) |
S50G |
probably benign |
Het |
| Rrad |
C |
T |
8: 105,355,343 (GRCm39) |
V222M |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,769,283 (GRCm39) |
T2770A |
probably benign |
Het |
| Secisbp2l |
G |
A |
2: 125,617,623 (GRCm39) |
P18L |
probably damaging |
Het |
| Septin2 |
T |
A |
1: 93,429,310 (GRCm39) |
W260R |
probably damaging |
Het |
| Slc35c2 |
A |
G |
2: 165,122,797 (GRCm39) |
M117T |
probably benign |
Het |
| Slc44a5 |
A |
G |
3: 153,953,373 (GRCm39) |
T252A |
probably benign |
Het |
| Speer4f2 |
T |
A |
5: 17,581,610 (GRCm39) |
L184Q |
|
Het |
| Sphkap |
C |
G |
1: 83,234,982 (GRCm39) |
V1615L |
probably damaging |
Het |
| Sult2a3 |
C |
T |
7: 13,806,981 (GRCm39) |
V234I |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,630,132 (GRCm39) |
L704P |
probably damaging |
Het |
| Tas2r126 |
T |
C |
6: 42,412,174 (GRCm39) |
S236P |
probably benign |
Het |
| Tnik |
A |
G |
3: 28,704,235 (GRCm39) |
I1020V |
probably damaging |
Het |
| Tomm5 |
T |
C |
4: 45,106,724 (GRCm39) |
Q64R |
unknown |
Het |
| Ttll13 |
A |
G |
7: 79,897,182 (GRCm39) |
E16G |
probably benign |
Het |
| Vmn1r21 |
C |
A |
6: 57,821,348 (GRCm39) |
C32F |
probably benign |
Het |
| Vmn2r51 |
T |
A |
7: 9,839,480 (GRCm39) |
D36V |
probably damaging |
Het |
| Vmn2r63 |
C |
T |
7: 42,576,413 (GRCm39) |
D467N |
probably damaging |
Het |
| Vwce |
A |
G |
19: 10,625,850 (GRCm39) |
N454S |
possibly damaging |
Het |
| Wfdc1 |
A |
C |
8: 120,406,116 (GRCm39) |
D77A |
|
Het |
| Yme1l1 |
T |
A |
2: 23,077,815 (GRCm39) |
I419N |
probably damaging |
Het |
| Zfp106 |
G |
A |
2: 120,364,812 (GRCm39) |
Q555* |
probably null |
Het |
| Zfp773 |
A |
C |
7: 7,138,302 (GRCm39) |
M111R |
probably damaging |
Het |
| Zmat3 |
G |
A |
3: 32,397,767 (GRCm39) |
A165V |
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 |
|
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 |
|
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 |
|
|
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'- ACATTCATTGTTGTTTTGCCTGAAT -3'
(R):5'- TCGTGGACTGCATTTAAGTGT -3'
Sequencing Primer
(F):5'- TGTCAGATCTGGGAGTTACACAC -3'
(R):5'- ACTGCATTTAAGTGTTGATGGTC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation