Incidental Mutation 'R0015:Ints2'
| ID |
64910 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints2
|
| Ensembl Gene |
ENSMUSG00000018068 |
| Gene Name |
integrator complex subunit 2 |
| Synonyms |
2810417D08Rik |
| MMRRC Submission |
038310-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0015 (G1)
|
| Quality Score |
96 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
86210681-86257575 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86249287 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 240
(T240A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103674
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018212]
[ENSMUST00000108039]
[ENSMUST00000139285]
|
| AlphaFold |
Q80UK8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018212
AA Change: T240A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018212
Gene: ENSMUSG00000018068
AA Change: T240A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1131 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108039
AA Change: T240A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103674
Gene: ENSMUSG00000018068
AA Change: T240A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1132 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134883
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139285
|
| SMART Domains |
Protein: ENSMUSP00000119084
Gene: ENSMUSG00000018068
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
190 |
1.4e-69 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143819
|
| Meta Mutation Damage Score |
0.0729 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.2%
|
| Validation Efficiency |
97% (71/73) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410089E03Rik |
G |
A |
15: 8,186,184 (GRCm38) |
R408H |
probably damaging |
Het |
| A130050O07Rik |
A |
G |
1: 137,928,656 (GRCm38) |
Y23C |
unknown |
Het |
| Adcy3 |
G |
A |
12: 4,195,260 (GRCm38) |
|
probably null |
Het |
| Aldh6a1 |
G |
A |
12: 84,441,780 (GRCm38) |
L86F |
probably damaging |
Het |
| Arl10 |
G |
T |
13: 54,575,957 (GRCm38) |
|
probably benign |
Het |
| Armc3 |
A |
G |
2: 19,296,321 (GRCm38) |
|
probably null |
Het |
| Astn2 |
T |
G |
4: 66,266,382 (GRCm38) |
|
probably null |
Het |
| Cacna1d |
G |
A |
14: 30,114,971 (GRCm38) |
T804I |
probably benign |
Het |
| Ccny |
A |
C |
18: 9,316,682 (GRCm38) |
|
probably benign |
Het |
| Cdh5 |
C |
T |
8: 104,140,927 (GRCm38) |
T612I |
probably benign |
Het |
| Cfap58 |
A |
G |
19: 48,029,100 (GRCm38) |
M800V |
probably benign |
Het |
| Clrn1 |
A |
T |
3: 58,846,427 (GRCm38) |
I171K |
probably damaging |
Het |
| Cnp |
T |
A |
11: 100,578,908 (GRCm38) |
|
probably null |
Het |
| Col12a1 |
T |
C |
9: 79,651,385 (GRCm38) |
T1933A |
probably damaging |
Het |
| Cwf19l2 |
A |
G |
9: 3,454,666 (GRCm38) |
S660G |
probably benign |
Het |
| Dync1i2 |
C |
A |
2: 71,214,484 (GRCm38) |
R13S |
probably damaging |
Het |
| Eps8l1 |
A |
T |
7: 4,477,557 (GRCm38) |
|
probably benign |
Het |
| Espn |
T |
C |
4: 152,139,152 (GRCm38) |
T188A |
possibly damaging |
Het |
| F2 |
T |
C |
2: 91,630,607 (GRCm38) |
E260G |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,982,503 (GRCm38) |
S3435T |
probably damaging |
Het |
| Fchsd1 |
A |
G |
18: 37,962,959 (GRCm38) |
C533R |
probably benign |
Het |
| Fstl5 |
G |
A |
3: 76,322,191 (GRCm38) |
V100M |
probably damaging |
Het |
| Gls2 |
T |
G |
10: 128,209,350 (GRCm38) |
L572R |
probably damaging |
Het |
| Gm20939 |
A |
T |
17: 94,876,768 (GRCm38) |
E281D |
probably benign |
Het |
| Gpr35 |
T |
G |
1: 92,983,232 (GRCm38) |
L222W |
probably damaging |
Het |
| Hsf5 |
C |
A |
11: 87,657,335 (GRCm38) |
H615N |
probably benign |
Het |
| Id2 |
C |
T |
12: 25,095,803 (GRCm38) |
D70N |
probably damaging |
Het |
| Kcnn3 |
A |
C |
3: 89,662,773 (GRCm38) |
D631A |
probably damaging |
Het |
| Klhdc8a |
A |
G |
1: 132,303,005 (GRCm38) |
T203A |
probably damaging |
Het |
| Lama4 |
C |
T |
10: 39,075,436 (GRCm38) |
T1059M |
possibly damaging |
Het |
| Lgals8 |
A |
G |
13: 12,447,298 (GRCm38) |
L226P |
probably damaging |
Het |
| Lifr |
T |
A |
15: 7,188,186 (GRCm38) |
|
probably null |
Het |
| Lonp1 |
T |
A |
17: 56,618,406 (GRCm38) |
Q462L |
probably benign |
Het |
| Lypd1 |
A |
G |
1: 125,910,438 (GRCm38) |
V48A |
possibly damaging |
Het |
| Mapkapk2 |
A |
G |
1: 131,097,326 (GRCm38) |
I67T |
possibly damaging |
Het |
| Mbd3l1 |
A |
T |
9: 18,484,858 (GRCm38) |
D93V |
probably benign |
Het |
| Mdh1b |
T |
C |
1: 63,721,800 (GRCm38) |
|
probably benign |
Het |
| Myh7b |
C |
T |
2: 155,622,286 (GRCm38) |
P569L |
probably damaging |
Het |
| Ncapd3 |
C |
A |
9: 27,051,809 (GRCm38) |
A470E |
probably damaging |
Het |
| Ndrg2 |
A |
G |
14: 51,910,445 (GRCm38) |
|
probably benign |
Het |
| Nprl2 |
A |
T |
9: 107,544,419 (GRCm38) |
I209F |
probably damaging |
Het |
| Ntrk1 |
A |
G |
3: 87,791,750 (GRCm38) |
|
probably benign |
Het |
| Olfm2 |
T |
C |
9: 20,668,741 (GRCm38) |
E268G |
probably damaging |
Het |
| Olfr884 |
T |
A |
9: 38,047,667 (GRCm38) |
Y148* |
probably null |
Het |
| Pcf11 |
T |
A |
7: 92,658,317 (GRCm38) |
H881L |
probably benign |
Het |
| Pde10a |
A |
G |
17: 8,977,197 (GRCm38) |
D640G |
probably damaging |
Het |
| Pde9a |
G |
A |
17: 31,386,356 (GRCm38) |
|
probably null |
Het |
| Pianp |
G |
T |
6: 125,001,540 (GRCm38) |
G236V |
probably damaging |
Het |
| Polr2g |
A |
G |
19: 8,793,652 (GRCm38) |
I160T |
probably damaging |
Het |
| Ppp1r3a |
A |
G |
6: 14,717,661 (GRCm38) |
S1085P |
possibly damaging |
Het |
| Pter |
G |
A |
2: 13,001,000 (GRCm38) |
G328D |
probably damaging |
Het |
| Rad51 |
T |
A |
2: 119,116,327 (GRCm38) |
M5K |
probably benign |
Het |
| Rbm43 |
T |
A |
2: 51,925,667 (GRCm38) |
I181F |
probably benign |
Het |
| Rgs12 |
T |
C |
5: 35,022,776 (GRCm38) |
|
probably benign |
Het |
| Rnf213 |
A |
C |
11: 119,441,606 (GRCm38) |
D2547A |
possibly damaging |
Het |
| Slc20a2 |
C |
A |
8: 22,535,345 (GRCm38) |
A21E |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,843,617 (GRCm38) |
S2503P |
probably benign |
Het |
| Sv2b |
A |
T |
7: 75,125,641 (GRCm38) |
F479L |
probably damaging |
Het |
| Sybu |
T |
C |
15: 44,673,500 (GRCm38) |
R349G |
probably damaging |
Het |
| Tead3 |
T |
C |
17: 28,341,351 (GRCm38) |
Y2C |
probably damaging |
Het |
| Tnrc6c |
T |
A |
11: 117,721,458 (GRCm38) |
N307K |
probably damaging |
Het |
| Ubxn11 |
C |
G |
4: 134,116,025 (GRCm38) |
|
probably null |
Het |
| Ust |
T |
C |
10: 8,330,065 (GRCm38) |
|
probably benign |
Het |
| Vmn2r116 |
T |
A |
17: 23,401,849 (GRCm38) |
N852K |
probably benign |
Het |
| Zgrf1 |
T |
C |
3: 127,555,397 (GRCm38) |
|
probably benign |
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 |
|
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 |
|
R4929:Ints2
|
UTSW |
11 |
86,212,653 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
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'- CCTGGCAAGTGACATTCTTCCACC -3'
(R):5'- AAGTTCCCAGGGTCTGCCTTCTAC -3'
Sequencing Primer
(F):5'- TTTAATGCACCTCAAGTTCAGAG -3'
(R):5'- TGCCTTCTACACTGTTTAAGTTG -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation