Incidental Mutation 'R4929:Ints2'
| ID |
381102 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints2
|
| Ensembl Gene |
ENSMUSG00000018068 |
| Gene Name |
integrator complex subunit 2 |
| Synonyms |
2810417D08Rik |
| MMRRC Submission |
042530-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4929 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
86210681-86257575 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 86212653 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1192
(N1192K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103674
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018212]
[ENSMUST00000108039]
|
| AlphaFold |
Q80UK8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018212
AA Change: N1192K
PolyPhen 2
Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000018212
Gene: ENSMUSG00000018068
AA Change: N1192K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1131 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108039
AA Change: N1192K
PolyPhen 2
Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103674
Gene: ENSMUSG00000018068
AA Change: N1192K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1132 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128960
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143819
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
| Validation Efficiency |
100% (66/66) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
G |
7: 29,574,042 (GRCm38) |
|
noncoding transcript |
Het |
| Abcd3 |
A |
T |
3: 121,768,746 (GRCm38) |
|
probably null |
Het |
| Adamts12 |
C |
T |
15: 11,259,022 (GRCm38) |
R551C |
probably damaging |
Het |
| Adamtsl4 |
A |
G |
3: 95,678,005 (GRCm38) |
C818R |
probably damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,630,851 (GRCm38) |
Q842L |
probably benign |
Het |
| Aurka |
A |
T |
2: 172,370,406 (GRCm38) |
V17E |
probably benign |
Het |
| Ccdc144b |
G |
A |
3: 36,035,338 (GRCm38) |
L146F |
probably damaging |
Het |
| Cdh24 |
C |
T |
14: 54,633,516 (GRCm38) |
V132I |
probably benign |
Het |
| Cep57l1 |
T |
C |
10: 41,745,914 (GRCm38) |
D2G |
possibly damaging |
Het |
| Cntn5 |
T |
A |
9: 9,976,395 (GRCm38) |
|
probably null |
Het |
| Col10a1 |
T |
C |
10: 34,395,124 (GRCm38) |
I364T |
probably benign |
Het |
| Dpp6 |
G |
A |
5: 27,049,787 (GRCm38) |
A67T |
probably benign |
Het |
| Dym |
T |
A |
18: 75,243,286 (GRCm38) |
V583E |
probably damaging |
Het |
| Efcab5 |
T |
G |
11: 77,103,383 (GRCm38) |
K1259N |
probably benign |
Het |
| Ehbp1 |
T |
G |
11: 22,239,169 (GRCm38) |
I78L |
possibly damaging |
Het |
| Epha1 |
C |
A |
6: 42,364,599 (GRCm38) |
A469S |
probably benign |
Het |
| Fam135a |
T |
C |
1: 24,030,000 (GRCm38) |
D596G |
probably benign |
Het |
| Filip1 |
T |
C |
9: 79,819,747 (GRCm38) |
N530S |
probably benign |
Het |
| Grhl2 |
A |
G |
15: 37,360,802 (GRCm38) |
N610S |
probably benign |
Het |
| Haus6 |
T |
C |
4: 86,595,433 (GRCm38) |
I331V |
probably benign |
Het |
| Itga5 |
A |
G |
15: 103,353,235 (GRCm38) |
V445A |
probably benign |
Het |
| Itga9 |
C |
A |
9: 118,807,249 (GRCm38) |
D82E |
probably damaging |
Het |
| Jam2 |
G |
A |
16: 84,822,862 (GRCm38) |
|
probably benign |
Het |
| Klhl32 |
T |
A |
4: 24,709,030 (GRCm38) |
I112F |
probably damaging |
Het |
| Lepr |
A |
G |
4: 101,815,117 (GRCm38) |
I1113V |
probably benign |
Het |
| Lrrc3b |
C |
A |
14: 15,357,888 (GRCm38) |
L239F |
probably damaging |
Het |
| Lzic |
T |
A |
4: 149,488,128 (GRCm38) |
|
probably null |
Het |
| Mxra8 |
T |
A |
4: 155,842,661 (GRCm38) |
F351I |
probably damaging |
Het |
| Naa40 |
A |
G |
19: 7,229,982 (GRCm38) |
F126L |
probably damaging |
Het |
| Nbeal1 |
C |
T |
1: 60,238,654 (GRCm38) |
S733F |
probably damaging |
Het |
| Olfr183 |
A |
C |
16: 59,000,219 (GRCm38) |
Y178S |
probably damaging |
Het |
| Olfr259 |
A |
G |
2: 87,108,183 (GRCm38) |
F68S |
possibly damaging |
Het |
| Olfr686 |
A |
G |
7: 105,204,025 (GRCm38) |
I106T |
probably damaging |
Het |
| Olr1 |
T |
C |
6: 129,500,081 (GRCm38) |
T74A |
probably damaging |
Het |
| Pgam5 |
A |
T |
5: 110,265,825 (GRCm38) |
V130D |
probably damaging |
Het |
| Pop4 |
A |
G |
7: 38,266,149 (GRCm38) |
C115R |
probably damaging |
Het |
| Prpf18 |
A |
T |
2: 4,624,537 (GRCm38) |
|
probably null |
Het |
| Psg16 |
G |
A |
7: 17,095,106 (GRCm38) |
R205H |
possibly damaging |
Het |
| Ptgr1 |
C |
A |
4: 58,981,879 (GRCm38) |
A53S |
probably benign |
Het |
| Shank2 |
A |
G |
7: 144,411,271 (GRCm38) |
D1451G |
probably benign |
Het |
| Slfn10-ps |
A |
G |
11: 83,029,519 (GRCm38) |
|
noncoding transcript |
Het |
| Sox8 |
G |
A |
17: 25,570,356 (GRCm38) |
A56V |
probably benign |
Het |
| Ssr3 |
A |
G |
3: 65,387,754 (GRCm38) |
S113P |
probably damaging |
Het |
| Stx16 |
T |
C |
2: 174,096,928 (GRCm38) |
Y296H |
possibly damaging |
Het |
| Tfcp2 |
A |
T |
15: 100,528,489 (GRCm38) |
N60K |
probably benign |
Het |
| Thada |
T |
C |
17: 84,444,226 (GRCm38) |
T441A |
probably benign |
Het |
| Trf |
G |
T |
9: 103,227,875 (GRCm38) |
|
probably benign |
Het |
| Vamp2 |
T |
A |
11: 69,088,662 (GRCm38) |
|
probably benign |
Het |
| Vmn2r105 |
A |
T |
17: 20,228,018 (GRCm38) |
D181E |
probably benign |
Het |
| Vmn2r12 |
A |
T |
5: 109,091,678 (GRCm38) |
Y340N |
probably damaging |
Het |
| Wasf2 |
C |
A |
4: 133,195,859 (GRCm38) |
D493E |
unknown |
Het |
| Wdfy4 |
T |
C |
14: 33,047,256 (GRCm38) |
D2084G |
possibly damaging |
Het |
| Zfp229 |
T |
A |
17: 21,746,373 (GRCm38) |
I528N |
probably damaging |
Het |
| Zfp703 |
T |
A |
8: 26,978,851 (GRCm38) |
V181E |
possibly damaging |
Het |
|
| Other mutations in Ints2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00807:Ints2
|
APN |
11 |
86,233,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02490:Ints2
|
APN |
11 |
86,233,183 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02612:Ints2
|
APN |
11 |
86,215,578 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03396:Ints2
|
APN |
11 |
86,213,062 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0015:Ints2
|
UTSW |
11 |
86,249,287 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0015:Ints2
|
UTSW |
11 |
86,249,287 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0355:Ints2
|
UTSW |
11 |
86,234,749 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0389:Ints2
|
UTSW |
11 |
86,248,851 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0631:Ints2
|
UTSW |
11 |
86,233,196 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0944:Ints2
|
UTSW |
11 |
86,244,463 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R1268:Ints2
|
UTSW |
11 |
86,233,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1269:Ints2
|
UTSW |
11 |
86,233,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1270:Ints2
|
UTSW |
11 |
86,233,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1396:Ints2
|
UTSW |
11 |
86,249,248 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1474:Ints2
|
UTSW |
11 |
86,226,781 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1503:Ints2
|
UTSW |
11 |
86,226,781 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1840:Ints2
|
UTSW |
11 |
86,233,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1987:Ints2
|
UTSW |
11 |
86,217,800 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1990:Ints2
|
UTSW |
11 |
86,248,934 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R1991:Ints2
|
UTSW |
11 |
86,248,934 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R3694:Ints2
|
UTSW |
11 |
86,243,001 (GRCm38) |
missense |
probably benign |
0.41 |
|
R4056:Ints2
|
UTSW |
11 |
86,242,952 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4057:Ints2
|
UTSW |
11 |
86,242,952 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4569:Ints2
|
UTSW |
11 |
86,256,198 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4585:Ints2
|
UTSW |
11 |
86,249,275 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4586:Ints2
|
UTSW |
11 |
86,249,275 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4806:Ints2
|
UTSW |
11 |
86,256,209 (GRCm38) |
missense |
probably benign |
0.10 |
|
R5031:Ints2
|
UTSW |
11 |
86,256,200 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5064:Ints2
|
UTSW |
11 |
86,249,274 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5270:Ints2
|
UTSW |
11 |
86,215,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5621:Ints2
|
UTSW |
11 |
86,242,947 (GRCm38) |
missense |
probably benign |
0.32 |
|
R5875:Ints2
|
UTSW |
11 |
86,238,312 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5908:Ints2
|
UTSW |
11 |
86,215,545 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5914:Ints2
|
UTSW |
11 |
86,222,174 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5941:Ints2
|
UTSW |
11 |
86,250,972 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5975:Ints2
|
UTSW |
11 |
86,226,748 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R6003:Ints2
|
UTSW |
11 |
86,238,468 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6091:Ints2
|
UTSW |
11 |
86,236,603 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6209:Ints2
|
UTSW |
11 |
86,225,058 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6567:Ints2
|
UTSW |
11 |
86,226,661 (GRCm38) |
missense |
probably benign |
0.42 |
|
R6764:Ints2
|
UTSW |
11 |
86,212,779 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7033:Ints2
|
UTSW |
11 |
86,233,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7132:Ints2
|
UTSW |
11 |
86,217,754 (GRCm38) |
missense |
probably benign |
0.26 |
|
R7337:Ints2
|
UTSW |
11 |
86,217,842 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7410:Ints2
|
UTSW |
11 |
86,233,226 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7483:Ints2
|
UTSW |
11 |
86,215,618 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7503:Ints2
|
UTSW |
11 |
86,232,055 (GRCm38) |
missense |
probably benign |
|
|
R7804:Ints2
|
UTSW |
11 |
86,212,663 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7845:Ints2
|
UTSW |
11 |
86,238,263 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7875:Ints2
|
UTSW |
11 |
86,213,062 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7918:Ints2
|
UTSW |
11 |
86,222,217 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7922:Ints2
|
UTSW |
11 |
86,244,627 (GRCm38) |
missense |
probably benign |
0.29 |
|
R8058:Ints2
|
UTSW |
11 |
86,255,353 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8134:Ints2
|
UTSW |
11 |
86,212,660 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8189:Ints2
|
UTSW |
11 |
86,215,570 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8295:Ints2
|
UTSW |
11 |
86,225,088 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8348:Ints2
|
UTSW |
11 |
86,255,423 (GRCm38) |
missense |
probably benign |
|
|
R8448:Ints2
|
UTSW |
11 |
86,255,423 (GRCm38) |
missense |
probably benign |
|
|
R8784:Ints2
|
UTSW |
11 |
86,225,115 (GRCm38) |
nonsense |
probably null |
|
|
R8784:Ints2
|
UTSW |
11 |
86,222,137 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8942:Ints2
|
UTSW |
11 |
86,212,894 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9037:Ints2
|
UTSW |
11 |
86,215,704 (GRCm38) |
missense |
probably benign |
|
|
R9154:Ints2
|
UTSW |
11 |
86,234,698 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9397:Ints2
|
UTSW |
11 |
86,244,485 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9412:Ints2
|
UTSW |
11 |
86,226,763 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9472:Ints2
|
UTSW |
11 |
86,242,998 (GRCm38) |
missense |
|
|
|
R9476:Ints2
|
UTSW |
11 |
86,244,509 (GRCm38) |
missense |
probably benign |
|
|
R9510:Ints2
|
UTSW |
11 |
86,244,509 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCATCAGAGCAGATCCAAAGATATG -3'
(R):5'- CTCTGATGTTGCCACTCAGAC -3'
Sequencing Primer
(F):5'- GCCAATCAAACAAGTATAATTCTCAG -3'
(R):5'- TCTGATGTTGCCACTCAGACAAGAG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation