Incidental Mutation 'R2323:Ints10'
| ID |
244807 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints10
|
| Ensembl Gene |
ENSMUSG00000031864 |
| Gene Name |
integrator complex subunit 10 |
| Synonyms |
4921521J11Rik |
| MMRRC Submission |
040314-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2323 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
69245729-69282062 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69271997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 566
(H566R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034328]
[ENSMUST00000070713]
[ENSMUST00000110241]
[ENSMUST00000110242]
|
| AlphaFold |
Q8K2A7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034328
AA Change: H566R
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000034328
Gene: ENSMUSG00000031864
AA Change: H566R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
132 |
138 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070713
AA Change: H566R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000069908
Gene: ENSMUSG00000031864
AA Change: H566R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
132 |
138 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110241
AA Change: H566R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000105870
Gene: ENSMUSG00000031864
AA Change: H566R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
132 |
138 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110242
AA Change: H566R
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000105871
Gene: ENSMUSG00000031864
AA Change: H566R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
132 |
138 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140309
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147072
|
| SMART Domains |
Protein: ENSMUSP00000118390
Gene: ENSMUSG00000031864
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
111 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
G |
T |
2: 25,335,187 (GRCm39) |
M2008I |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,743,298 (GRCm39) |
S68P |
probably damaging |
Het |
| Albfm1 |
T |
A |
5: 90,732,711 (GRCm39) |
Y507* |
probably null |
Het |
| Anks3 |
T |
C |
16: 4,768,634 (GRCm39) |
|
probably null |
Het |
| Asap2 |
T |
C |
12: 21,253,969 (GRCm39) |
I160T |
probably damaging |
Het |
| Asb15 |
T |
A |
6: 24,556,600 (GRCm39) |
F32I |
probably benign |
Het |
| Catip |
A |
T |
1: 74,402,437 (GRCm39) |
M103L |
probably benign |
Het |
| Cela2a |
G |
C |
4: 141,553,390 (GRCm39) |
|
probably benign |
Het |
| Crebrf |
T |
C |
17: 26,982,581 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
T |
C |
5: 124,819,064 (GRCm39) |
M450T |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,267,518 (GRCm39) |
S5165P |
possibly damaging |
Het |
| Esrp2 |
T |
A |
8: 106,860,934 (GRCm39) |
D196V |
probably benign |
Het |
| Hmox2 |
A |
T |
16: 4,583,720 (GRCm39) |
K263* |
probably null |
Het |
| Ints12 |
G |
A |
3: 132,815,126 (GRCm39) |
M444I |
possibly damaging |
Het |
| Liph |
A |
G |
16: 21,802,754 (GRCm39) |
V105A |
probably damaging |
Het |
| Myo1e |
T |
A |
9: 70,286,040 (GRCm39) |
Y941* |
probably null |
Het |
| Myo7b |
T |
C |
18: 32,104,398 (GRCm39) |
E1450G |
probably damaging |
Het |
| Myt1 |
G |
T |
2: 181,448,350 (GRCm39) |
A594S |
probably damaging |
Het |
| Npas3 |
T |
A |
12: 54,115,129 (GRCm39) |
Y666N |
probably damaging |
Het |
| Npsr1 |
A |
G |
9: 24,211,732 (GRCm39) |
K240E |
probably damaging |
Het |
| Or52h7 |
T |
C |
7: 104,213,826 (GRCm39) |
F133L |
probably benign |
Het |
| Rtkn2 |
A |
G |
10: 67,837,764 (GRCm39) |
I102M |
probably damaging |
Het |
| Rundc1 |
T |
C |
11: 101,316,101 (GRCm39) |
F58L |
probably damaging |
Het |
| Snrpc |
T |
G |
17: 28,066,948 (GRCm39) |
M91R |
unknown |
Het |
| Tgfbr2 |
T |
C |
9: 115,939,212 (GRCm39) |
K205R |
possibly damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tnfrsf21 |
C |
A |
17: 43,396,420 (GRCm39) |
S568* |
probably null |
Het |
| Tulp1 |
C |
T |
17: 28,581,456 (GRCm39) |
G239D |
probably damaging |
Het |
| Vmn1r234 |
T |
C |
17: 21,449,965 (GRCm39) |
I293T |
probably benign |
Het |
| Vmn1r26 |
T |
C |
6: 57,985,842 (GRCm39) |
K116E |
probably damaging |
Het |
| Vmn2r98 |
T |
A |
17: 19,286,081 (GRCm39) |
I193K |
probably benign |
Het |
| Wnk4 |
T |
A |
11: 101,159,307 (GRCm39) |
S575T |
probably damaging |
Het |
| Zfp558 |
A |
T |
9: 18,380,573 (GRCm39) |
|
probably null |
Het |
| Zscan18 |
T |
C |
7: 12,509,386 (GRCm39) |
|
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 |
|
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 |
|
R7076:Ints10
|
UTSW |
8 |
69,249,403 (GRCm39) |
nonsense |
probably null |
|
|
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'- CAGAAACCATTGTCATCGTTACAC -3'
(R):5'- TATTCCTCAAGCACAGGGC -3'
Sequencing Primer
(F):5'- CAATTAATTGTTGTCTGCTGTGTCTC -3'
(R):5'- GCACAGGGCTTATTTTCTACTTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation