Incidental Mutation 'R7410:Ints2'
| ID |
575021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints2
|
| Ensembl Gene |
ENSMUSG00000018068 |
| Gene Name |
integrator complex subunit 2 |
| Synonyms |
2810417D08Rik |
| MMRRC Submission |
045491-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7410 (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 G
at 86124052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 579
(T579P)
|
| 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: T579P
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000018212
Gene: ENSMUSG00000018068
AA Change: T579P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1131 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108039
AA Change: T579P
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000103674
Gene: ENSMUSG00000018068
AA Change: T579P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INTS2
|
24 |
1132 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134828
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210017I01Rik |
A |
G |
3: 92,512,551 (GRCm39) |
S3P |
unknown |
Het |
| Adgrv1 |
A |
T |
13: 81,711,738 (GRCm39) |
D1079E |
probably benign |
Het |
| Agbl5 |
A |
T |
5: 31,048,032 (GRCm39) |
Y102F |
possibly damaging |
Het |
| Ankfy1 |
T |
C |
11: 72,652,330 (GRCm39) |
L1094S |
probably damaging |
Het |
| Ankrd42 |
A |
T |
7: 92,259,762 (GRCm39) |
V337E |
possibly damaging |
Het |
| Axl |
A |
G |
7: 25,458,208 (GRCm39) |
L849P |
probably benign |
Het |
| Bmpr2 |
T |
C |
1: 59,907,652 (GRCm39) |
I915T |
probably benign |
Het |
| Cables1 |
T |
A |
18: 12,074,282 (GRCm39) |
F494L |
probably benign |
Het |
| Cacna1e |
A |
C |
1: 154,347,980 (GRCm39) |
V927G |
probably benign |
Het |
| Cavin1 |
A |
T |
11: 100,849,670 (GRCm39) |
V320E |
probably damaging |
Het |
| Cemip |
T |
G |
7: 83,602,042 (GRCm39) |
S916R |
probably damaging |
Het |
| Cep57 |
G |
A |
9: 13,729,980 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,919,433 (GRCm39) |
N120D |
probably damaging |
Het |
| Cfap44 |
A |
T |
16: 44,288,776 (GRCm39) |
S1509C |
probably damaging |
Het |
| Chga |
A |
G |
12: 102,528,866 (GRCm39) |
D281G |
probably benign |
Het |
| Clstn2 |
A |
G |
9: 97,423,920 (GRCm39) |
F282L |
probably benign |
Het |
| Cnot1 |
A |
T |
8: 96,459,787 (GRCm39) |
V1855E |
possibly damaging |
Het |
| Cnr1 |
T |
A |
4: 33,944,119 (GRCm39) |
V169D |
probably damaging |
Het |
| Cpd |
T |
A |
11: 76,673,134 (GRCm39) |
H1337L |
probably damaging |
Het |
| Crabp2 |
T |
A |
3: 87,859,585 (GRCm39) |
D78E |
probably damaging |
Het |
| Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
| Cyp2ab1 |
G |
A |
16: 20,135,475 (GRCm39) |
A9V |
probably benign |
Het |
| Cyp3a41b |
T |
C |
5: 145,514,967 (GRCm39) |
D86G |
probably damaging |
Het |
| Dner |
T |
A |
1: 84,563,332 (GRCm39) |
D96V |
probably damaging |
Het |
| Duox1 |
C |
A |
2: 122,176,874 (GRCm39) |
T1465N |
probably damaging |
Het |
| Ehd3 |
T |
A |
17: 74,112,428 (GRCm39) |
V64E |
probably benign |
Het |
| Ehmt1 |
A |
G |
2: 24,738,080 (GRCm39) |
V508A |
probably benign |
Het |
| Ephb3 |
G |
A |
16: 21,040,158 (GRCm39) |
V761I |
possibly damaging |
Het |
| Fam161b |
T |
C |
12: 84,404,575 (GRCm39) |
Q35R |
probably benign |
Het |
| Fam186a |
T |
A |
15: 99,844,826 (GRCm39) |
K473* |
probably null |
Het |
| Fam227b |
A |
T |
2: 125,960,983 (GRCm39) |
D215E |
probably damaging |
Het |
| Fkbp15 |
C |
A |
4: 62,258,536 (GRCm39) |
D144Y |
probably damaging |
Het |
| Galt |
T |
C |
4: 41,757,707 (GRCm39) |
I259T |
possibly damaging |
Het |
| Gbp11 |
G |
A |
5: 105,491,774 (GRCm39) |
P8S |
probably damaging |
Het |
| Gfap |
A |
T |
11: 102,783,963 (GRCm39) |
M339K |
probably damaging |
Het |
| Gm14443 |
C |
T |
2: 175,011,069 (GRCm39) |
R459Q |
possibly damaging |
Het |
| Grip1 |
A |
G |
10: 119,855,925 (GRCm39) |
N632S |
probably benign |
Het |
| H4c18 |
G |
A |
13: 22,016,211 (GRCm39) |
R40W |
probably damaging |
Het |
| Hcar1 |
T |
G |
5: 124,017,161 (GRCm39) |
I177L |
possibly damaging |
Het |
| Ighv1-37 |
A |
G |
12: 114,860,099 (GRCm39) |
V37A |
probably damaging |
Het |
| Ilf3 |
T |
A |
9: 21,311,100 (GRCm39) |
F657L |
unknown |
Het |
| Iqgap1 |
G |
T |
7: 80,372,778 (GRCm39) |
Y1520* |
probably null |
Het |
| Kdm4a |
T |
C |
4: 118,001,115 (GRCm39) |
H884R |
possibly damaging |
Het |
| Krtap19-1 |
A |
T |
16: 88,666,132 (GRCm39) |
Y52N |
unknown |
Het |
| Lama5 |
A |
T |
2: 179,844,183 (GRCm39) |
|
probably null |
Het |
| Lrrc72 |
T |
C |
12: 36,272,803 (GRCm39) |
N89D |
probably damaging |
Het |
| Med13l |
A |
G |
5: 118,698,897 (GRCm39) |
D16G |
possibly damaging |
Het |
| Mefv |
A |
G |
16: 3,533,545 (GRCm39) |
L242P |
probably damaging |
Het |
| Mob3c |
T |
C |
4: 115,688,784 (GRCm39) |
Y106H |
probably damaging |
Het |
| Nlrp1a |
A |
G |
11: 71,014,683 (GRCm39) |
I189T |
probably damaging |
Het |
| Nudt7 |
T |
C |
8: 114,860,559 (GRCm39) |
|
probably benign |
Het |
| Or13p10 |
T |
C |
4: 118,523,629 (GRCm39) |
L305P |
probably benign |
Het |
| Or4f7 |
T |
A |
2: 111,644,271 (GRCm39) |
I267L |
probably benign |
Het |
| Pappa |
A |
G |
4: 65,253,956 (GRCm39) |
T1537A |
probably damaging |
Het |
| Pik3r4 |
T |
A |
9: 105,527,790 (GRCm39) |
V381E |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,794,855 (GRCm39) |
Y2181N |
probably damaging |
Het |
| Pmel |
G |
T |
10: 128,552,353 (GRCm39) |
V396F |
probably benign |
Het |
| Prdm9 |
A |
G |
17: 15,765,259 (GRCm39) |
I507T |
possibly damaging |
Het |
| Psme4 |
C |
T |
11: 30,765,279 (GRCm39) |
Q549* |
probably null |
Het |
| Ptprg |
T |
A |
14: 11,962,657 (GRCm38) |
W152R |
probably damaging |
Het |
| Ptprm |
A |
C |
17: 67,000,561 (GRCm39) |
V1141G |
probably damaging |
Het |
| Rapgef5 |
G |
A |
12: 117,685,063 (GRCm39) |
V505M |
probably damaging |
Het |
| Rnf213 |
T |
A |
11: 119,325,877 (GRCm39) |
M1558K |
|
Het |
| Slc35a1 |
A |
G |
4: 34,675,034 (GRCm39) |
V168A |
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,096,693 (GRCm39) |
T347A |
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,531,978 (GRCm39) |
V2745D |
probably benign |
Het |
| Taar7e |
A |
T |
10: 23,914,424 (GRCm39) |
T305S |
probably benign |
Het |
| Tie1 |
T |
C |
4: 118,337,074 (GRCm39) |
S551G |
probably benign |
Het |
| Tmc5 |
T |
A |
7: 118,222,820 (GRCm39) |
Y173* |
probably null |
Het |
| Tns2 |
T |
A |
15: 102,018,961 (GRCm39) |
V384D |
probably damaging |
Het |
| Tubgcp4 |
T |
A |
2: 121,014,890 (GRCm39) |
Y267N |
probably damaging |
Het |
| Vmn1r53 |
A |
G |
6: 90,200,700 (GRCm39) |
V208A |
probably damaging |
Het |
| Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
T |
C |
14: 32,696,191 (GRCm39) |
D2784G |
|
Het |
| Zfp712 |
A |
C |
13: 67,189,400 (GRCm39) |
S376A |
probably benign |
Het |
| Znrf3 |
C |
T |
11: 5,238,955 (GRCm39) |
C232Y |
unknown |
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 |
|
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'- CTGTGACAGGTGAAAGGACTATTG -3'
(R):5'- CTCACCGTCTTAGGCGTATC -3'
Sequencing Primer
(F):5'- GGACTATTGTTTTATTTACCCCGATG -3'
(R):5'- GCTATATGTGTTCTACGGTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation