Incidental Mutation 'R5582:Ints9'
| ID |
438523 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints9
|
| Ensembl Gene |
ENSMUSG00000021975 |
| Gene Name |
integrator complex subunit 9 |
| Synonyms |
D14Ertd231e |
| MMRRC Submission |
043136-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5582 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
65187494-65277284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 65266345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 399
(T399M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045552
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043914]
|
| AlphaFold |
Q8K114 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043914
AA Change: T399M
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000045552
Gene: ENSMUSG00000021975
AA Change: T399M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lactamase_B_6
|
91 |
289 |
1.2e-17 |
PFAM |
|
Beta-Casp
|
334 |
462 |
7.65e-16 |
SMART |
|
low complexity region
|
583 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
672 |
682 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225790
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
98% (61/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the Integrator complex. This protein complex binds the C-terminal domain of RNA polymerase II and likely plays a role in small nuclear RNA processing. The encoded protein has similarities to the subunits of the cleavage and polyadenylation specificity factor complex. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,586,639 (GRCm39) |
|
probably null |
Het |
| Agxt2 |
A |
G |
15: 10,399,245 (GRCm39) |
D444G |
probably damaging |
Het |
| Aldh1b1 |
G |
T |
4: 45,802,750 (GRCm39) |
R96L |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,739,954 (GRCm39) |
|
probably benign |
Het |
| Apob |
A |
G |
12: 8,060,788 (GRCm39) |
Y3090C |
probably damaging |
Het |
| Bbx |
A |
G |
16: 50,043,719 (GRCm39) |
S647P |
probably damaging |
Het |
| Brinp2 |
T |
C |
1: 158,076,979 (GRCm39) |
Y372C |
probably damaging |
Het |
| Btaf1 |
T |
C |
19: 36,965,573 (GRCm39) |
|
probably null |
Het |
| Cdk5rap1 |
T |
A |
2: 154,187,894 (GRCm39) |
E477D |
probably benign |
Het |
| Cfap65 |
G |
A |
1: 74,946,677 (GRCm39) |
|
probably benign |
Het |
| Chdh |
A |
G |
14: 29,758,816 (GRCm39) |
Y587C |
probably damaging |
Het |
| Chek2 |
T |
C |
5: 111,015,901 (GRCm39) |
V472A |
probably damaging |
Het |
| Clasrp |
A |
C |
7: 19,320,781 (GRCm39) |
I326S |
probably damaging |
Het |
| Clic6 |
A |
T |
16: 92,296,342 (GRCm39) |
Q334L |
possibly damaging |
Het |
| Cyp2d11 |
A |
T |
15: 82,276,319 (GRCm39) |
|
probably null |
Het |
| Entpd7 |
T |
C |
19: 43,693,433 (GRCm39) |
I171T |
probably damaging |
Het |
| Fosl1 |
T |
C |
19: 5,505,295 (GRCm39) |
|
probably benign |
Het |
| Gm6124 |
A |
G |
7: 38,869,622 (GRCm39) |
|
noncoding transcript |
Het |
| H3f3a |
A |
T |
1: 180,637,650 (GRCm39) |
|
probably benign |
Het |
| Hs1bp3 |
AGAGGAGGAGGAGGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGGAGGAGGAGGAGG |
12: 8,374,048 (GRCm39) |
|
probably benign |
Het |
| Idh2 |
CCAGGGC |
CC |
7: 79,748,087 (GRCm39) |
|
probably null |
Het |
| Igkv3-7 |
A |
G |
6: 70,584,990 (GRCm39) |
Y110C |
probably damaging |
Het |
| Kctd19 |
G |
A |
8: 106,135,075 (GRCm39) |
T62M |
probably damaging |
Het |
| Lsmem1 |
A |
G |
12: 40,230,643 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 58,990,802 (GRCm39) |
|
probably null |
Het |
| Or11h23 |
T |
C |
14: 50,948,425 (GRCm39) |
Y213H |
probably damaging |
Het |
| Or1j12 |
T |
C |
2: 36,343,233 (GRCm39) |
I212T |
probably benign |
Het |
| Otop3 |
T |
A |
11: 115,230,165 (GRCm39) |
M14K |
unknown |
Het |
| Pibf1 |
C |
T |
14: 99,374,566 (GRCm39) |
A335V |
possibly damaging |
Het |
| Pkd1l2 |
A |
T |
8: 117,767,522 (GRCm39) |
L1256* |
probably null |
Het |
| Plbd2 |
T |
C |
5: 120,631,171 (GRCm39) |
E202G |
probably benign |
Het |
| Ppp1r37 |
A |
G |
7: 19,266,219 (GRCm39) |
S516P |
probably damaging |
Het |
| Ppt2 |
G |
A |
17: 34,836,373 (GRCm39) |
T229M |
probably damaging |
Het |
| Prr14 |
A |
T |
7: 127,075,569 (GRCm39) |
I526F |
probably damaging |
Het |
| Scel |
T |
C |
14: 103,820,575 (GRCm39) |
|
probably benign |
Het |
| Scn9a |
A |
T |
2: 66,395,373 (GRCm39) |
|
probably benign |
Het |
| Senp6 |
T |
A |
9: 79,997,158 (GRCm39) |
D57E |
possibly damaging |
Het |
| Setd5 |
T |
C |
6: 113,091,886 (GRCm39) |
Y217H |
probably damaging |
Het |
| Sgcg |
T |
C |
14: 61,462,754 (GRCm39) |
T198A |
probably damaging |
Het |
| Sipa1 |
C |
T |
19: 5,704,729 (GRCm39) |
G622D |
probably benign |
Het |
| Slc27a2 |
C |
T |
2: 126,406,610 (GRCm39) |
A98V |
probably damaging |
Het |
| Slitrk3 |
G |
T |
3: 72,957,737 (GRCm39) |
P345Q |
probably benign |
Het |
| Slx4 |
T |
C |
16: 3,803,652 (GRCm39) |
D1054G |
possibly damaging |
Het |
| Sned1 |
A |
T |
1: 93,210,083 (GRCm39) |
T898S |
probably damaging |
Het |
| Tg |
C |
T |
15: 66,565,284 (GRCm39) |
P1209S |
probably damaging |
Het |
| Tmem63b |
C |
A |
17: 45,978,689 (GRCm39) |
V294L |
probably benign |
Het |
| Tnks |
G |
A |
8: 35,408,015 (GRCm39) |
R238C |
probably benign |
Het |
| Tsn |
G |
A |
1: 118,232,944 (GRCm39) |
T120I |
probably damaging |
Het |
| Txnrd1 |
T |
A |
10: 82,731,814 (GRCm39) |
F479I |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,745,888 (GRCm39) |
M849V |
probably benign |
Het |
| Usp13 |
T |
C |
3: 32,965,738 (GRCm39) |
S574P |
probably damaging |
Het |
| Vmn1r69 |
A |
G |
7: 10,314,435 (GRCm39) |
Y20H |
probably damaging |
Het |
| Zfp1001 |
T |
C |
2: 150,204,972 (GRCm39) |
|
probably benign |
Het |
| Zfp780b |
T |
A |
7: 27,664,252 (GRCm39) |
N101I |
probably damaging |
Het |
|
| Other mutations in Ints9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01143:Ints9
|
APN |
14 |
65,274,870 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02374:Ints9
|
APN |
14 |
65,276,782 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02728:Ints9
|
APN |
14 |
65,230,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02992:Ints9
|
APN |
14 |
65,217,613 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03151:Ints9
|
APN |
14 |
65,269,789 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0437:Ints9
|
UTSW |
14 |
65,223,818 (GRCm39) |
splice site |
probably benign |
|
|
R0582:Ints9
|
UTSW |
14 |
65,217,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1525:Ints9
|
UTSW |
14 |
65,232,460 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1569:Ints9
|
UTSW |
14 |
65,217,571 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1835:Ints9
|
UTSW |
14 |
65,269,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1839:Ints9
|
UTSW |
14 |
65,253,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1862:Ints9
|
UTSW |
14 |
65,263,862 (GRCm39) |
missense |
probably benign |
|
|
R1892:Ints9
|
UTSW |
14 |
65,257,872 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2146:Ints9
|
UTSW |
14 |
65,223,792 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2285:Ints9
|
UTSW |
14 |
65,245,446 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3015:Ints9
|
UTSW |
14 |
65,187,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4133:Ints9
|
UTSW |
14 |
65,228,003 (GRCm39) |
missense |
probably benign |
|
|
R4180:Ints9
|
UTSW |
14 |
65,230,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4509:Ints9
|
UTSW |
14 |
65,266,381 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4510:Ints9
|
UTSW |
14 |
65,266,381 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4511:Ints9
|
UTSW |
14 |
65,266,381 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4608:Ints9
|
UTSW |
14 |
65,269,729 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5023:Ints9
|
UTSW |
14 |
65,217,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5117:Ints9
|
UTSW |
14 |
65,230,540 (GRCm39) |
nonsense |
probably null |
|
|
R5261:Ints9
|
UTSW |
14 |
65,245,521 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5990:Ints9
|
UTSW |
14 |
65,276,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6009:Ints9
|
UTSW |
14 |
65,245,531 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6241:Ints9
|
UTSW |
14 |
65,217,659 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6351:Ints9
|
UTSW |
14 |
65,230,456 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6821:Ints9
|
UTSW |
14 |
65,274,907 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7422:Ints9
|
UTSW |
14 |
65,269,747 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7442:Ints9
|
UTSW |
14 |
65,232,513 (GRCm39) |
nonsense |
probably null |
|
|
R7475:Ints9
|
UTSW |
14 |
65,263,914 (GRCm39) |
missense |
probably null |
0.23 |
|
R8183:Ints9
|
UTSW |
14 |
65,273,902 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8223:Ints9
|
UTSW |
14 |
65,257,809 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8282:Ints9
|
UTSW |
14 |
65,244,757 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8314:Ints9
|
UTSW |
14 |
65,266,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8341:Ints9
|
UTSW |
14 |
65,273,863 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8548:Ints9
|
UTSW |
14 |
65,269,770 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9356:Ints9
|
UTSW |
14 |
65,269,770 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9434:Ints9
|
UTSW |
14 |
65,245,506 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Ints9
|
UTSW |
14 |
65,274,903 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGGTTGTTCAGGTTGGAC -3'
(R):5'- GATGGGCTATATTTATGCTTTCCTC -3'
Sequencing Primer
(F):5'- TTGGACAGCAGGCCTCATG -3'
(R):5'- GGAAGGACTCTAACCCTTACCTGTG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation