Incidental Mutation 'R7076:Ints10'
ID |
549226 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ints10
|
Ensembl Gene |
ENSMUSG00000031864 |
Gene Name |
integrator complex subunit 10 |
Synonyms |
4921521J11Rik |
MMRRC Submission |
045171-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7076 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
69245729-69282062 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 69249403 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 78
(R78*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069908
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034328]
[ENSMUST00000070713]
[ENSMUST00000110241]
[ENSMUST00000110242]
|
AlphaFold |
Q8K2A7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034328
AA Change: R78*
|
SMART Domains |
Protein: ENSMUSP00000034328 Gene: ENSMUSG00000031864 AA Change: R78*
Domain | Start | End | E-Value | Type |
low complexity region
|
132 |
138 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000070713
AA Change: R78*
|
SMART Domains |
Protein: ENSMUSP00000069908 Gene: ENSMUSG00000031864 AA Change: R78*
Domain | Start | End | E-Value | Type |
low complexity region
|
132 |
138 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000110241
AA Change: R78*
|
SMART Domains |
Protein: ENSMUSP00000105870 Gene: ENSMUSG00000031864 AA Change: R78*
Domain | Start | End | E-Value | Type |
low complexity region
|
132 |
138 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000110242
AA Change: R78*
|
SMART Domains |
Protein: ENSMUSP00000105871 Gene: ENSMUSG00000031864 AA Change: R78*
Domain | Start | End | E-Value | Type |
low complexity region
|
132 |
138 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (60/60) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INTS10 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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam29 |
A |
G |
8: 56,324,694 (GRCm39) |
C587R |
probably damaging |
Het |
Adgrg7 |
T |
C |
16: 56,562,769 (GRCm39) |
T523A |
probably damaging |
Het |
Arrdc3 |
A |
T |
13: 81,038,815 (GRCm39) |
K259M |
probably damaging |
Het |
Becn1 |
A |
T |
11: 101,186,150 (GRCm39) |
N151K |
probably benign |
Het |
Cars2 |
C |
T |
8: 11,579,649 (GRCm39) |
E270K |
probably damaging |
Het |
Ccp110 |
C |
A |
7: 118,331,628 (GRCm39) |
P943Q |
probably damaging |
Het |
Ccser2 |
A |
G |
14: 36,661,786 (GRCm39) |
I466T |
probably benign |
Het |
Cd164 |
A |
G |
10: 41,399,193 (GRCm39) |
E94G |
probably benign |
Het |
Cdon |
C |
T |
9: 35,415,446 (GRCm39) |
T1228I |
probably benign |
Het |
Cubn |
C |
A |
2: 13,311,091 (GRCm39) |
V3145L |
probably benign |
Het |
Cubn |
T |
A |
2: 13,311,092 (GRCm39) |
K3144N |
probably benign |
Het |
Dchs1 |
A |
G |
7: 105,411,078 (GRCm39) |
V1649A |
probably benign |
Het |
Dgka |
A |
T |
10: 128,569,452 (GRCm39) |
D153E |
probably damaging |
Het |
Dip2b |
A |
G |
15: 100,055,853 (GRCm39) |
|
probably null |
Het |
Dnajc21 |
T |
C |
15: 10,449,717 (GRCm39) |
T435A |
probably benign |
Het |
F830016B08Rik |
A |
T |
18: 60,433,543 (GRCm39) |
I209F |
probably damaging |
Het |
Ghdc |
C |
A |
11: 100,660,540 (GRCm39) |
S111I |
possibly damaging |
Het |
Gm19965 |
T |
C |
1: 116,749,005 (GRCm39) |
C229R |
|
Het |
Gpm6a |
C |
T |
8: 55,490,486 (GRCm39) |
T54I |
probably damaging |
Het |
Gpr171 |
G |
T |
3: 59,005,577 (GRCm39) |
A66E |
probably damaging |
Het |
Grm7 |
A |
G |
6: 111,335,113 (GRCm39) |
D508G |
probably benign |
Het |
Has1 |
G |
A |
17: 18,064,068 (GRCm39) |
R524C |
probably damaging |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Ighv3-8 |
A |
T |
12: 114,286,402 (GRCm39) |
L7Q |
probably damaging |
Het |
Itpr1 |
A |
G |
6: 108,365,257 (GRCm39) |
I903V |
probably benign |
Het |
Lrp1 |
A |
G |
10: 127,386,052 (GRCm39) |
|
probably null |
Het |
Mki67 |
A |
G |
7: 135,307,358 (GRCm39) |
V132A |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,143,999 (GRCm39) |
E1123G |
possibly damaging |
Het |
Neurog3 |
A |
G |
10: 61,969,359 (GRCm39) |
T40A |
probably benign |
Het |
Nipsnap3b |
T |
A |
4: 53,021,095 (GRCm39) |
|
probably null |
Het |
Nr4a3 |
G |
A |
4: 48,055,957 (GRCm39) |
V328I |
probably damaging |
Het |
Or11g27 |
T |
A |
14: 50,771,278 (GRCm39) |
Y136* |
probably null |
Het |
Or2d36 |
T |
C |
7: 106,747,236 (GRCm39) |
F238L |
probably damaging |
Het |
Or52u1 |
A |
T |
7: 104,237,430 (GRCm39) |
S140C |
probably damaging |
Het |
Or5af2 |
G |
A |
11: 58,707,990 (GRCm39) |
R52Q |
probably benign |
Het |
Or5b124 |
G |
T |
19: 13,611,244 (GRCm39) |
M256I |
possibly damaging |
Het |
Or5p63 |
A |
T |
7: 107,811,205 (GRCm39) |
V177D |
probably damaging |
Het |
Osbpl5 |
A |
G |
7: 143,263,577 (GRCm39) |
L102P |
probably benign |
Het |
Ppl |
C |
T |
16: 4,917,983 (GRCm39) |
R503Q |
probably damaging |
Het |
Ppp2r2d |
T |
C |
7: 138,478,326 (GRCm39) |
M321T |
possibly damaging |
Het |
Prex1 |
T |
C |
2: 166,475,302 (GRCm39) |
Y197C |
probably damaging |
Het |
Prss32 |
A |
G |
17: 24,072,895 (GRCm39) |
D42G |
possibly damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,768,361 (GRCm39) |
E1210G |
possibly damaging |
Het |
Sdr16c5 |
A |
G |
4: 4,006,591 (GRCm39) |
C234R |
probably damaging |
Het |
Slc23a4 |
A |
G |
6: 34,933,819 (GRCm39) |
S95P |
probably damaging |
Het |
Srp14 |
T |
C |
2: 118,309,871 (GRCm39) |
T29A |
probably damaging |
Het |
Tet2 |
T |
A |
3: 133,172,784 (GRCm39) |
H1826L |
possibly damaging |
Het |
Tfr2 |
A |
T |
5: 137,581,836 (GRCm39) |
Y641F |
probably damaging |
Het |
Tmco5b |
A |
G |
2: 113,117,766 (GRCm39) |
N27D |
probably damaging |
Het |
Tvp23a |
T |
C |
16: 10,246,599 (GRCm39) |
D62G |
probably benign |
Het |
Usp12 |
A |
G |
5: 146,674,562 (GRCm39) |
F347S |
possibly damaging |
Het |
Zfp407 |
A |
T |
18: 84,576,601 (GRCm39) |
L1504Q |
probably damaging |
Het |
Zfp524 |
A |
G |
7: 5,020,895 (GRCm39) |
D141G |
possibly damaging |
Het |
Zfp68 |
A |
G |
5: 138,605,201 (GRCm39) |
I374T |
possibly damaging |
Het |
Zfp758 |
C |
T |
17: 22,594,137 (GRCm39) |
H208Y |
probably benign |
Het |
Zfp804b |
T |
C |
5: 6,819,751 (GRCm39) |
H1104R |
probably benign |
Het |
Znrf2 |
T |
A |
6: 54,819,680 (GRCm39) |
*75K |
probably null |
Het |
Zzef1 |
T |
C |
11: 72,790,385 (GRCm39) |
V2113A |
probably benign |
Het |
|
Other mutations in Ints10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00743:Ints10
|
APN |
8 |
69,271,985 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00964:Ints10
|
APN |
8 |
69,264,638 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02326:Ints10
|
APN |
8 |
69,257,485 (GRCm39) |
missense |
probably damaging |
0.99 |
R0012:Ints10
|
UTSW |
8 |
69,260,127 (GRCm39) |
missense |
probably benign |
0.01 |
R0112:Ints10
|
UTSW |
8 |
69,279,954 (GRCm39) |
missense |
probably damaging |
0.99 |
R1302:Ints10
|
UTSW |
8 |
69,279,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R1462:Ints10
|
UTSW |
8 |
69,260,296 (GRCm39) |
splice site |
probably benign |
|
R1540:Ints10
|
UTSW |
8 |
69,249,365 (GRCm39) |
splice site |
probably benign |
|
R1592:Ints10
|
UTSW |
8 |
69,255,555 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1845:Ints10
|
UTSW |
8 |
69,247,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R2144:Ints10
|
UTSW |
8 |
69,249,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R2323:Ints10
|
UTSW |
8 |
69,271,997 (GRCm39) |
missense |
probably benign |
0.09 |
R3765:Ints10
|
UTSW |
8 |
69,277,771 (GRCm39) |
missense |
possibly damaging |
0.78 |
R3910:Ints10
|
UTSW |
8 |
69,266,272 (GRCm39) |
missense |
probably damaging |
0.96 |
R3912:Ints10
|
UTSW |
8 |
69,266,272 (GRCm39) |
missense |
probably damaging |
0.96 |
R3913:Ints10
|
UTSW |
8 |
69,266,272 (GRCm39) |
missense |
probably damaging |
0.96 |
R4050:Ints10
|
UTSW |
8 |
69,280,003 (GRCm39) |
missense |
probably damaging |
1.00 |
R4151:Ints10
|
UTSW |
8 |
69,247,250 (GRCm39) |
splice site |
probably null |
|
R4607:Ints10
|
UTSW |
8 |
69,263,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R4608:Ints10
|
UTSW |
8 |
69,263,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R4881:Ints10
|
UTSW |
8 |
69,263,256 (GRCm39) |
missense |
probably benign |
0.08 |
R4911:Ints10
|
UTSW |
8 |
69,279,964 (GRCm39) |
missense |
probably damaging |
0.98 |
R5255:Ints10
|
UTSW |
8 |
69,246,624 (GRCm39) |
start gained |
probably benign |
|
R5331:Ints10
|
UTSW |
8 |
69,273,472 (GRCm39) |
splice site |
probably null |
|
R5461:Ints10
|
UTSW |
8 |
69,246,693 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5740:Ints10
|
UTSW |
8 |
69,257,574 (GRCm39) |
missense |
probably damaging |
0.96 |
R5741:Ints10
|
UTSW |
8 |
69,257,574 (GRCm39) |
missense |
probably damaging |
0.96 |
R6128:Ints10
|
UTSW |
8 |
69,274,904 (GRCm39) |
critical splice donor site |
probably null |
|
R6465:Ints10
|
UTSW |
8 |
69,260,188 (GRCm39) |
missense |
probably benign |
|
R6868:Ints10
|
UTSW |
8 |
69,250,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R6983:Ints10
|
UTSW |
8 |
69,246,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R7216:Ints10
|
UTSW |
8 |
69,274,809 (GRCm39) |
missense |
probably damaging |
0.96 |
R7652:Ints10
|
UTSW |
8 |
69,277,771 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8134:Ints10
|
UTSW |
8 |
69,255,638 (GRCm39) |
nonsense |
probably null |
|
R8176:Ints10
|
UTSW |
8 |
69,255,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R8185:Ints10
|
UTSW |
8 |
69,249,370 (GRCm39) |
missense |
possibly damaging |
0.51 |
R8964:Ints10
|
UTSW |
8 |
69,264,631 (GRCm39) |
missense |
probably benign |
|
R9015:Ints10
|
UTSW |
8 |
69,260,139 (GRCm39) |
missense |
probably benign |
0.00 |
R9256:Ints10
|
UTSW |
8 |
69,261,129 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9320:Ints10
|
UTSW |
8 |
69,279,951 (GRCm39) |
missense |
probably damaging |
0.98 |
R9372:Ints10
|
UTSW |
8 |
69,271,967 (GRCm39) |
missense |
probably damaging |
1.00 |
X0027:Ints10
|
UTSW |
8 |
69,261,126 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTGTGGGTTCAGATTTATTAAAGT -3'
(R):5'- TCACTGTGGACTTTCATTGCC -3'
Sequencing Primer
(F):5'- AGGATGACCTTGAACCTCTGATC -3'
(R):5'- GGACTTTCATTGCCTAGAATAAAAAG -3'
|
Posted On |
2019-05-15 |