Incidental Mutation 'R5261:Ints9'
ID |
401463 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ints9
|
Ensembl Gene |
ENSMUSG00000021975 |
Gene Name |
integrator complex subunit 9 |
Synonyms |
D14Ertd231e |
MMRRC Submission |
042830-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5261 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
65187494-65277284 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 65245521 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 260
(Y260N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045552
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043914]
|
AlphaFold |
Q8K114 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043914
AA Change: Y260N
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000045552 Gene: ENSMUSG00000021975 AA Change: Y260N
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: ENSMUST00000224593
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225790
|
Meta Mutation Damage Score |
0.1138 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.1%
|
Validation Efficiency |
96% (64/67) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
C |
G |
2: 152,282,777 (GRCm39) |
P211A |
probably damaging |
Het |
Ambra1 |
G |
A |
2: 91,715,951 (GRCm39) |
V761M |
probably damaging |
Het |
Amfr |
T |
A |
8: 94,702,798 (GRCm39) |
|
probably null |
Het |
Asphd1 |
C |
A |
7: 126,545,287 (GRCm39) |
A357S |
probably benign |
Het |
Brd3 |
C |
A |
2: 27,353,931 (GRCm39) |
Q60H |
probably damaging |
Het |
Cd96 |
T |
A |
16: 45,890,016 (GRCm39) |
M336L |
probably benign |
Het |
Cep152 |
T |
A |
2: 125,406,125 (GRCm39) |
H1469L |
probably benign |
Het |
Coro1a |
G |
T |
7: 126,299,816 (GRCm39) |
|
probably null |
Het |
D630045J12Rik |
A |
T |
6: 38,171,555 (GRCm39) |
L871Q |
probably benign |
Het |
Depdc5 |
C |
T |
5: 33,095,635 (GRCm39) |
P824L |
probably damaging |
Het |
Enpep |
T |
G |
3: 129,099,075 (GRCm39) |
D467A |
probably damaging |
Het |
Extl2 |
G |
A |
3: 115,821,013 (GRCm39) |
A273T |
probably benign |
Het |
Foxi3 |
T |
A |
6: 70,937,500 (GRCm39) |
F218Y |
probably damaging |
Het |
Golga2 |
A |
G |
2: 32,194,166 (GRCm39) |
M521V |
probably benign |
Het |
Gpr142 |
T |
A |
11: 114,695,168 (GRCm39) |
N44K |
probably damaging |
Het |
Gtf2ird2 |
A |
G |
5: 134,245,061 (GRCm39) |
I440V |
probably benign |
Het |
Gucy1b2 |
T |
A |
14: 62,642,028 (GRCm39) |
K698I |
probably damaging |
Het |
Hspa1b |
T |
C |
17: 35,177,983 (GRCm39) |
M1V |
probably null |
Het |
Khdc3 |
T |
G |
9: 73,010,768 (GRCm39) |
V182G |
possibly damaging |
Het |
Ky |
A |
G |
9: 102,414,798 (GRCm39) |
|
probably null |
Het |
Map2k1 |
T |
A |
9: 64,098,843 (GRCm39) |
I263F |
probably damaging |
Het |
Or13a18 |
A |
C |
7: 140,190,576 (GRCm39) |
I166L |
probably benign |
Het |
Or2t47 |
T |
C |
11: 58,442,877 (GRCm39) |
S63G |
probably benign |
Het |
Or5ak25 |
A |
G |
2: 85,269,241 (GRCm39) |
V87A |
probably benign |
Het |
Otogl |
T |
A |
10: 107,613,453 (GRCm39) |
H2004L |
probably benign |
Het |
Palmd |
T |
C |
3: 116,717,009 (GRCm39) |
H496R |
probably benign |
Het |
Papolb |
C |
G |
5: 142,515,409 (GRCm39) |
R78P |
possibly damaging |
Het |
Pcdh10 |
G |
A |
3: 45,336,247 (GRCm39) |
G854R |
probably damaging |
Het |
Pdcd11 |
A |
G |
19: 47,101,976 (GRCm39) |
I1054V |
probably benign |
Het |
Pik3ap1 |
A |
T |
19: 41,364,545 (GRCm39) |
L58Q |
probably damaging |
Het |
Ppp2ca |
A |
G |
11: 51,989,937 (GRCm39) |
K21R |
probably benign |
Het |
Prmt5 |
A |
C |
14: 54,745,373 (GRCm39) |
I598S |
probably damaging |
Het |
Pycr1 |
T |
A |
11: 120,532,050 (GRCm39) |
I239F |
probably damaging |
Het |
R3hdm2 |
C |
T |
10: 127,334,285 (GRCm39) |
R896C |
probably damaging |
Het |
Rev3l |
C |
T |
10: 39,722,725 (GRCm39) |
P699S |
probably damaging |
Het |
Samd1 |
CGAGGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
8: 84,725,625 (GRCm39) |
|
probably benign |
Het |
Sel1l |
A |
T |
12: 91,791,658 (GRCm39) |
M351K |
possibly damaging |
Het |
Sesn2 |
A |
G |
4: 132,226,617 (GRCm39) |
L159P |
probably damaging |
Het |
Slc35f4 |
T |
A |
14: 49,540,946 (GRCm39) |
|
probably benign |
Het |
Slc3a1 |
C |
A |
17: 85,359,403 (GRCm39) |
N409K |
probably damaging |
Het |
Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
Slco1c1 |
T |
C |
6: 141,492,502 (GRCm39) |
F246S |
probably damaging |
Het |
Socs2 |
T |
G |
10: 95,228,681 (GRCm39) |
I190L |
unknown |
Het |
Srsf1 |
T |
A |
11: 87,938,684 (GRCm39) |
I7N |
possibly damaging |
Het |
Stox1 |
T |
A |
10: 62,503,620 (GRCm39) |
H145L |
probably damaging |
Het |
Trap1 |
A |
T |
16: 3,874,286 (GRCm39) |
I243N |
probably damaging |
Het |
Trav7-3 |
T |
C |
14: 53,681,207 (GRCm39) |
I83T |
probably benign |
Het |
Trmt9b |
T |
C |
8: 36,979,078 (GRCm39) |
I227T |
probably benign |
Het |
Tuft1 |
A |
T |
3: 94,546,712 (GRCm39) |
I42K |
possibly damaging |
Het |
Umps |
A |
G |
16: 33,787,344 (GRCm39) |
V3A |
probably benign |
Het |
Vim |
A |
C |
2: 13,579,643 (GRCm39) |
E134A |
probably null |
Het |
Vmn1r28 |
C |
A |
6: 58,242,524 (GRCm39) |
H122Q |
probably benign |
Het |
Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
Vsig10l |
T |
A |
7: 43,120,274 (GRCm39) |
V760D |
probably damaging |
Het |
Xrn1 |
A |
G |
9: 95,927,596 (GRCm39) |
D1460G |
probably benign |
Het |
Zfp282 |
A |
G |
6: 47,874,824 (GRCm39) |
D343G |
probably damaging |
Het |
Zfp35 |
A |
G |
18: 24,136,778 (GRCm39) |
H374R |
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 |
|
R5582:Ints9
|
UTSW |
14 |
65,266,345 (GRCm39) |
missense |
possibly damaging |
0.83 |
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'- TCTGTTACAGCACAGCCACC -3'
(R):5'- ACGCACTCGCCTAGACTATC -3'
Sequencing Primer
(F):5'- ACAGCCACCATCATTCTGTCTG -3'
(R):5'- ACTCGCCTAGACTATCTAAGATCTAG -3'
|
Posted On |
2016-07-06 |