Incidental Mutation 'R9476:Ints2'
| ID |
715796 |
| 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 # |
R9476 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
86101507-86148401 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86135335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 360
(M360L)
|
| 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: M360L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000018212
Gene: ENSMUSG00000018068
AA Change: M360L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1131 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108039
AA Change: M360L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103674
Gene: ENSMUSG00000018068
AA Change: M360L
| 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: 98.9%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578G10Rik |
T |
G |
4: 42,760,998 (GRCm39) |
W6G |
unknown |
Het |
| Aatk |
A |
T |
11: 119,901,094 (GRCm39) |
C1101S |
probably benign |
Het |
| Abcb4 |
A |
T |
5: 8,977,790 (GRCm39) |
D456V |
probably damaging |
Het |
| Abcc8 |
T |
C |
7: 45,819,270 (GRCm39) |
E186G |
possibly damaging |
Het |
| Adam18 |
T |
C |
8: 25,115,807 (GRCm39) |
N629S |
probably benign |
Het |
| Angpt2 |
T |
G |
8: 18,764,143 (GRCm39) |
N133T |
probably benign |
Het |
| Ankrd13c |
T |
A |
3: 157,697,396 (GRCm39) |
S334T |
probably benign |
Het |
| Ankrd13d |
A |
T |
19: 4,320,289 (GRCm39) |
S151T |
unknown |
Het |
| Ap3d1 |
G |
A |
10: 80,545,655 (GRCm39) |
P1025S |
probably benign |
Het |
| Bhlhe41 |
G |
A |
6: 145,808,948 (GRCm39) |
A288V |
possibly damaging |
Het |
| Cacna1b |
T |
C |
2: 24,540,058 (GRCm39) |
E1467G |
probably damaging |
Het |
| Cacna1h |
T |
A |
17: 25,611,524 (GRCm39) |
T425S |
probably damaging |
Het |
| Cdk13 |
A |
C |
13: 17,902,747 (GRCm39) |
C934W |
probably damaging |
Het |
| Ces1b |
T |
A |
8: 93,799,890 (GRCm39) |
N162I |
probably damaging |
Het |
| Clec9a |
T |
A |
6: 129,398,023 (GRCm39) |
I187K |
possibly damaging |
Het |
| Cpsf3 |
A |
G |
12: 21,350,080 (GRCm39) |
I266M |
probably damaging |
Het |
| Cr2 |
G |
T |
1: 194,840,416 (GRCm39) |
L509M |
probably damaging |
Het |
| Creb3l2 |
C |
A |
6: 37,311,446 (GRCm39) |
G448W |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 15,981,215 (GRCm39) |
|
probably null |
Het |
| Cul9 |
G |
A |
17: 46,821,833 (GRCm39) |
R1881W |
probably damaging |
Het |
| Cyth1 |
C |
T |
11: 118,076,206 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
A |
T |
7: 105,352,889 (GRCm39) |
N2681Y |
possibly damaging |
Het |
| Dnm1 |
T |
C |
2: 32,213,739 (GRCm39) |
M476V |
probably benign |
Het |
| Dnmt3a |
A |
G |
12: 3,957,707 (GRCm39) |
H896R |
probably damaging |
Het |
| Dock1 |
T |
G |
7: 134,592,279 (GRCm39) |
I938S |
probably benign |
Het |
| Dock6 |
G |
A |
9: 21,724,821 (GRCm39) |
L1515F |
probably damaging |
Het |
| Dusp16 |
T |
C |
6: 134,695,226 (GRCm39) |
H535R |
probably benign |
Het |
| Fancd2os |
T |
A |
6: 113,574,994 (GRCm39) |
Y4F |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 39,037,886 (GRCm39) |
Q3846L |
probably benign |
Het |
| Fbxw10 |
A |
C |
11: 62,743,814 (GRCm39) |
H240P |
probably benign |
Het |
| Frmd4a |
A |
G |
2: 4,608,324 (GRCm39) |
T731A |
probably benign |
Het |
| Gm44501 |
T |
A |
17: 40,889,820 (GRCm39) |
H111Q |
possibly damaging |
Het |
| Gsdmc |
T |
C |
15: 63,650,551 (GRCm39) |
M277V |
probably benign |
Het |
| Hira |
A |
G |
16: 18,772,789 (GRCm39) |
D867G |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,462,127 (GRCm39) |
S5184P |
probably benign |
Het |
| Ighv1-26 |
A |
C |
12: 114,752,407 (GRCm39) |
F7V |
probably benign |
Het |
| Igkv4-81 |
C |
T |
6: 68,967,796 (GRCm39) |
E102K |
possibly damaging |
Het |
| Inmt |
G |
T |
6: 55,147,990 (GRCm39) |
S213Y |
possibly damaging |
Het |
| Itih3 |
A |
G |
14: 30,631,416 (GRCm39) |
S827P |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kcnk12 |
C |
A |
17: 88,054,122 (GRCm39) |
R180L |
probably benign |
Het |
| Kndc1 |
G |
A |
7: 139,510,031 (GRCm39) |
S1291N |
probably benign |
Het |
| Mettl21a |
T |
C |
1: 64,647,285 (GRCm39) |
T91A |
probably damaging |
Het |
| Mmrn2 |
A |
G |
14: 34,120,407 (GRCm39) |
I426V |
possibly damaging |
Het |
| Mrpl21 |
T |
G |
19: 3,337,704 (GRCm39) |
V137G |
probably damaging |
Het |
| Nrbp2 |
T |
C |
15: 75,961,626 (GRCm39) |
N218S |
probably damaging |
Het |
| Nrip1 |
T |
C |
16: 76,089,820 (GRCm39) |
N579S |
probably benign |
Het |
| Nsf |
T |
C |
11: 103,763,988 (GRCm39) |
N365S |
probably damaging |
Het |
| Or6c5 |
A |
G |
10: 129,074,656 (GRCm39) |
I213V |
probably damaging |
Het |
| Or7g28 |
A |
T |
9: 19,272,383 (GRCm39) |
D89E |
probably benign |
Het |
| Osbpl3 |
C |
T |
6: 50,313,194 (GRCm39) |
|
probably null |
Het |
| Oscar |
T |
A |
7: 3,614,843 (GRCm39) |
H43L |
probably benign |
Het |
| Pam |
C |
T |
1: 97,826,065 (GRCm39) |
|
probably null |
Het |
| Parn |
A |
T |
16: 13,358,942 (GRCm39) |
M600K |
probably benign |
Het |
| Pcdha11 |
C |
A |
18: 37,139,532 (GRCm39) |
T387N |
probably benign |
Het |
| Plce1 |
G |
A |
19: 38,766,337 (GRCm39) |
E2121K |
possibly damaging |
Het |
| Prune2 |
T |
A |
19: 17,096,706 (GRCm39) |
Y737N |
possibly damaging |
Het |
| Ptch1 |
G |
A |
13: 63,681,448 (GRCm39) |
P613L |
probably benign |
Het |
| Ptprt |
A |
C |
2: 161,397,381 (GRCm39) |
C1129G |
probably damaging |
Het |
| Rara |
C |
T |
11: 98,860,983 (GRCm39) |
S157L |
probably benign |
Het |
| Rest |
T |
A |
5: 77,416,098 (GRCm39) |
M104K |
probably damaging |
Het |
| Rfc1 |
A |
G |
5: 65,437,142 (GRCm39) |
S513P |
probably damaging |
Het |
| Rnf40 |
T |
A |
7: 127,201,808 (GRCm39) |
I1000N |
probably damaging |
Het |
| Scube2 |
C |
T |
7: 109,430,969 (GRCm39) |
G410E |
probably damaging |
Het |
| Sh3gl2 |
A |
G |
4: 85,304,089 (GRCm39) |
E264G |
probably benign |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Smc4 |
T |
G |
3: 68,914,662 (GRCm39) |
S92A |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,863,467 (GRCm39) |
D205G |
probably benign |
Het |
| Spata31e4 |
A |
G |
13: 50,856,149 (GRCm39) |
T596A |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,713,203 (GRCm39) |
R390G |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,377,768 (GRCm39) |
F842S |
probably damaging |
Het |
| Stk17b |
G |
T |
1: 53,796,898 (GRCm39) |
H290N |
probably damaging |
Het |
| Stpg3 |
A |
T |
2: 25,103,516 (GRCm39) |
V191D |
probably benign |
Het |
| Supt6 |
C |
T |
11: 78,120,290 (GRCm39) |
R350H |
probably damaging |
Het |
| Tet3 |
T |
C |
6: 83,380,935 (GRCm39) |
E411G |
possibly damaging |
Het |
| Tet3 |
T |
A |
6: 83,381,808 (GRCm39) |
|
probably null |
Het |
| Tns3 |
A |
G |
11: 8,395,702 (GRCm39) |
I1234T |
probably damaging |
Het |
| Trim34b |
A |
G |
7: 103,980,503 (GRCm39) |
E197G |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,851,531 (GRCm39) |
T1143K |
possibly damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,949,593 (GRCm39) |
V671E |
probably damaging |
Het |
| Wdtc1 |
A |
G |
4: 133,049,529 (GRCm39) |
V29A |
probably damaging |
Het |
| Zfp462 |
G |
A |
4: 55,080,735 (GRCm39) |
M2450I |
probably benign |
Het |
| Zfp869 |
A |
T |
8: 70,159,849 (GRCm39) |
C241* |
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 |
|
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 |
|
|
|
R9510:Ints2
|
UTSW |
11 |
86,135,335 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAAAGGCCTTTGGTTCACTTCTG -3'
(R):5'- TCAACTGTAAGTGCTCATGTGAC -3'
Sequencing Primer
(F):5'- CACTTCTGTGAGATGAGAACCAAG -3'
(R):5'- AGTGCTCATGTGACAAGATCC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation