Incidental Mutation 'R1525:Ints9'
| ID |
167809 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints9
|
| Ensembl Gene |
ENSMUSG00000021975 |
| Gene Name |
integrator complex subunit 9 |
| Synonyms |
D14Ertd231e |
| MMRRC Submission |
040872-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1525 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
64950045-65039832 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64995011 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 173
(I173T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045552
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043914]
|
| AlphaFold |
Q8K114 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043914
AA Change: I173T
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000045552
Gene: ENSMUSG00000021975
AA Change: I173T
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.6%
|
| Validation Efficiency |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700015F17Rik |
C |
A |
5: 5,452,019 (GRCm38) |
W144C |
probably benign |
Het |
| 4931440F15Rik |
A |
C |
11: 29,823,994 (GRCm38) |
Y488D |
probably benign |
Het |
| Abcc3 |
A |
T |
11: 94,361,236 (GRCm38) |
H840Q |
probably benign |
Het |
| Amotl2 |
C |
T |
9: 102,728,568 (GRCm38) |
R540C |
probably damaging |
Het |
| Brpf1 |
A |
G |
6: 113,317,154 (GRCm38) |
E605G |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 28,972,242 (GRCm38) |
I865V |
probably benign |
Het |
| Cdh24 |
A |
T |
14: 54,638,589 (GRCm38) |
F199I |
probably damaging |
Het |
| Cdk9 |
A |
G |
2: 32,710,509 (GRCm38) |
V27A |
probably damaging |
Het |
| Cfap69 |
G |
T |
5: 5,640,230 (GRCm38) |
|
probably null |
Het |
| Cyp2d11 |
G |
T |
15: 82,389,297 (GRCm38) |
L458I |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,758,931 (GRCm38) |
E1898G |
probably damaging |
Het |
| Dennd4b |
G |
T |
3: 90,270,870 (GRCm38) |
L456F |
probably damaging |
Het |
| Dgat1 |
T |
C |
15: 76,511,586 (GRCm38) |
T66A |
probably benign |
Het |
| Dock10 |
C |
A |
1: 80,606,164 (GRCm38) |
|
probably null |
Het |
| Fam110b |
A |
G |
4: 5,799,578 (GRCm38) |
D332G |
possibly damaging |
Het |
| Frmd4b |
G |
A |
6: 97,296,386 (GRCm38) |
P628S |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,605,410 (GRCm38) |
H852Q |
probably benign |
Het |
| Il17ra |
T |
C |
6: 120,473,790 (GRCm38) |
V116A |
probably damaging |
Het |
| Kctd14 |
A |
T |
7: 97,457,867 (GRCm38) |
M110L |
probably benign |
Het |
| Krt6a |
T |
G |
15: 101,694,202 (GRCm38) |
Y16S |
probably benign |
Het |
| Lamc2 |
T |
C |
1: 153,130,756 (GRCm38) |
N883S |
probably benign |
Het |
| Larp4b |
C |
T |
13: 9,145,450 (GRCm38) |
T195M |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,539,529 (GRCm38) |
L4432P |
probably damaging |
Het |
| Mei4 |
T |
C |
9: 81,890,199 (GRCm38) |
S22P |
probably damaging |
Het |
| Mep1a |
T |
C |
17: 43,491,636 (GRCm38) |
Q166R |
probably damaging |
Het |
| Mroh2b |
C |
A |
15: 4,951,130 (GRCm38) |
|
probably null |
Het |
| Myoc |
T |
G |
1: 162,648,651 (GRCm38) |
L308R |
probably damaging |
Het |
| Ndn |
C |
T |
7: 62,348,508 (GRCm38) |
P34L |
probably benign |
Het |
| Olfr1188 |
C |
G |
2: 88,559,641 (GRCm38) |
S57R |
probably damaging |
Het |
| Olfr50 |
A |
T |
2: 36,794,143 (GRCm38) |
R302S |
probably null |
Het |
| Olfr720 |
T |
A |
14: 14,175,725 (GRCm38) |
Y119F |
probably damaging |
Het |
| Pdilt |
T |
A |
7: 119,487,994 (GRCm38) |
T478S |
probably damaging |
Het |
| Pias1 |
T |
C |
9: 62,920,487 (GRCm38) |
K222E |
probably damaging |
Het |
| Prss16 |
A |
C |
13: 22,009,443 (GRCm38) |
L61V |
possibly damaging |
Het |
| Pvr |
G |
A |
7: 19,910,626 (GRCm38) |
Q328* |
probably null |
Het |
| Ranbp3 |
A |
G |
17: 56,710,865 (GRCm38) |
D481G |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,579,908 (GRCm38) |
|
probably benign |
Het |
| Ryr3 |
G |
T |
2: 112,678,090 (GRCm38) |
D3419E |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,319,462 (GRCm38) |
W946* |
probably null |
Het |
| Sh3pxd2a |
T |
C |
19: 47,278,425 (GRCm38) |
K242E |
probably damaging |
Het |
| Slc34a2 |
A |
G |
5: 53,069,506 (GRCm38) |
D657G |
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,702,052 (GRCm38) |
I2930K |
probably benign |
Het |
| Syna |
T |
C |
5: 134,559,258 (GRCm38) |
D279G |
probably benign |
Het |
| Tfr2 |
T |
C |
5: 137,579,030 (GRCm38) |
F415L |
probably benign |
Het |
| Tmem97 |
A |
T |
11: 78,542,761 (GRCm38) |
Y103N |
probably damaging |
Het |
| Tmem97 |
T |
A |
11: 78,542,760 (GRCm38) |
Y103F |
probably damaging |
Het |
| Txndc2 |
T |
A |
17: 65,638,315 (GRCm38) |
D289V |
probably damaging |
Het |
| Zbtb1 |
T |
G |
12: 76,386,432 (GRCm38) |
D397E |
probably benign |
Het |
| Zc3h18 |
T |
C |
8: 122,413,938 (GRCm38) |
S847P |
probably benign |
Het |
| Zfp382 |
G |
A |
7: 30,133,719 (GRCm38) |
G265E |
probably damaging |
Het |
| Zfp410 |
T |
C |
12: 84,322,966 (GRCm38) |
L39S |
probably damaging |
Het |
| Zfp729a |
G |
T |
13: 67,619,321 (GRCm38) |
P930T |
probably benign |
Het |
|
| Other mutations in Ints9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01143:Ints9
|
APN |
14 |
65,037,421 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02374:Ints9
|
APN |
14 |
65,039,333 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02728:Ints9
|
APN |
14 |
64,993,008 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02992:Ints9
|
APN |
14 |
64,980,164 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL03151:Ints9
|
APN |
14 |
65,032,340 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R0437:Ints9
|
UTSW |
14 |
64,986,369 (GRCm38) |
splice site |
probably benign |
|
|
R0582:Ints9
|
UTSW |
14 |
64,980,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1569:Ints9
|
UTSW |
14 |
64,980,122 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1835:Ints9
|
UTSW |
14 |
65,032,256 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1839:Ints9
|
UTSW |
14 |
65,016,530 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1862:Ints9
|
UTSW |
14 |
65,026,413 (GRCm38) |
missense |
probably benign |
|
|
R1892:Ints9
|
UTSW |
14 |
65,020,423 (GRCm38) |
missense |
probably benign |
0.08 |
|
R2146:Ints9
|
UTSW |
14 |
64,986,343 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R2285:Ints9
|
UTSW |
14 |
65,007,997 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R3015:Ints9
|
UTSW |
14 |
64,950,278 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4133:Ints9
|
UTSW |
14 |
64,990,554 (GRCm38) |
missense |
probably benign |
|
|
R4180:Ints9
|
UTSW |
14 |
64,992,981 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4509:Ints9
|
UTSW |
14 |
65,028,932 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R4510:Ints9
|
UTSW |
14 |
65,028,932 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R4511:Ints9
|
UTSW |
14 |
65,028,932 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R4608:Ints9
|
UTSW |
14 |
65,032,280 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5023:Ints9
|
UTSW |
14 |
64,980,228 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5117:Ints9
|
UTSW |
14 |
64,993,091 (GRCm38) |
nonsense |
probably null |
|
|
R5261:Ints9
|
UTSW |
14 |
65,008,072 (GRCm38) |
missense |
probably benign |
0.25 |
|
R5582:Ints9
|
UTSW |
14 |
65,028,896 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R5990:Ints9
|
UTSW |
14 |
65,039,328 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6009:Ints9
|
UTSW |
14 |
65,008,082 (GRCm38) |
missense |
probably benign |
0.43 |
|
R6241:Ints9
|
UTSW |
14 |
64,980,210 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6351:Ints9
|
UTSW |
14 |
64,993,007 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6821:Ints9
|
UTSW |
14 |
65,037,458 (GRCm38) |
missense |
probably benign |
0.20 |
|
R7422:Ints9
|
UTSW |
14 |
65,032,298 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7442:Ints9
|
UTSW |
14 |
64,995,064 (GRCm38) |
nonsense |
probably null |
|
|
R7475:Ints9
|
UTSW |
14 |
65,026,465 (GRCm38) |
missense |
probably null |
0.23 |
|
R8183:Ints9
|
UTSW |
14 |
65,036,453 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8223:Ints9
|
UTSW |
14 |
65,020,360 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8282:Ints9
|
UTSW |
14 |
65,007,308 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8314:Ints9
|
UTSW |
14 |
65,029,030 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8341:Ints9
|
UTSW |
14 |
65,036,414 (GRCm38) |
missense |
probably benign |
0.14 |
|
R8548:Ints9
|
UTSW |
14 |
65,032,321 (GRCm38) |
missense |
probably benign |
0.39 |
|
R9356:Ints9
|
UTSW |
14 |
65,032,321 (GRCm38) |
missense |
probably benign |
0.39 |
|
R9434:Ints9
|
UTSW |
14 |
65,008,057 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1176:Ints9
|
UTSW |
14 |
65,037,454 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATGGCAGAGGTCTGTCTCACTG -3'
(R):5'- TGAGTGACCTGGACCATTAGACCC -3'
Sequencing Primer
(F):5'- atgccccctctcccgtc -3'
(R):5'- AGCCAGGTGCTCCCAAAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation