Incidental Mutation 'R8134:Ints10'
| ID |
632174 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints10
|
| Ensembl Gene |
ENSMUSG00000031864 |
| Gene Name |
integrator complex subunit 10 |
| Synonyms |
4921521J11Rik |
| MMRRC Submission |
067562-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8134 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
69245729-69282062 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 69255638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 209
(Y209*)
|
| 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: Y209*
|
| SMART Domains |
Protein: ENSMUSP00000034328
Gene: ENSMUSG00000031864
AA Change: Y209*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
132 |
138 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000070713
AA Change: Y209*
|
| SMART Domains |
Protein: ENSMUSP00000069908
Gene: ENSMUSG00000031864
AA Change: Y209*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
132 |
138 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110241
AA Change: Y209*
|
| SMART Domains |
Protein: ENSMUSP00000105870
Gene: ENSMUSG00000031864
AA Change: Y209*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
132 |
138 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110242
AA Change: Y209*
|
| SMART Domains |
Protein: ENSMUSP00000105871
Gene: ENSMUSG00000031864
AA Change: Y209*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
132 |
138 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.5%
- 20x: 93.5%
|
| Validation Efficiency |
99% (71/72) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abce1 |
G |
A |
8: 80,425,982 (GRCm39) |
P265L |
probably benign |
Het |
| Adam20 |
A |
G |
8: 41,249,101 (GRCm39) |
T404A |
probably benign |
Het |
| Anp32a |
G |
T |
9: 62,284,863 (GRCm39) |
R237L |
unknown |
Het |
| Ascc3 |
A |
G |
10: 50,643,554 (GRCm39) |
D1835G |
probably benign |
Het |
| Atg9b |
A |
G |
5: 24,590,220 (GRCm39) |
|
probably null |
Het |
| Bard1 |
A |
T |
1: 71,106,297 (GRCm39) |
N443K |
probably damaging |
Het |
| Btnl1 |
A |
G |
17: 34,604,647 (GRCm39) |
D476G |
possibly damaging |
Het |
| C2cd3 |
A |
T |
7: 100,067,711 (GRCm39) |
I487F |
|
Het |
| Cadm4 |
A |
G |
7: 24,203,030 (GRCm39) |
E384G |
possibly damaging |
Het |
| Camsap3 |
A |
G |
8: 3,648,075 (GRCm39) |
K128E |
probably benign |
Het |
| Casz1 |
C |
T |
4: 149,027,492 (GRCm39) |
P1005S |
probably damaging |
Het |
| Cd38 |
C |
A |
5: 44,058,790 (GRCm39) |
L135M |
probably damaging |
Het |
| Cdk20 |
A |
G |
13: 64,585,734 (GRCm39) |
E244G |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,714,378 (GRCm39) |
V2667D |
unknown |
Het |
| Col11a1 |
A |
G |
3: 114,012,435 (GRCm39) |
K1792E |
unknown |
Het |
| Cpne9 |
A |
T |
6: 113,272,003 (GRCm39) |
D377V |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 15,982,550 (GRCm39) |
C2706S |
probably damaging |
Het |
| Ctnnbl1 |
T |
C |
2: 157,651,391 (GRCm39) |
V222A |
probably benign |
Het |
| Frmpd2 |
T |
C |
14: 33,227,452 (GRCm39) |
S277P |
probably benign |
Het |
| Herc2 |
C |
T |
7: 55,734,884 (GRCm39) |
T158I |
probably benign |
Het |
| Hoxa4 |
G |
T |
6: 52,167,537 (GRCm39) |
H215N |
possibly damaging |
Het |
| Hpd |
G |
T |
5: 123,312,443 (GRCm39) |
Q309K |
probably benign |
Het |
| Il20ra |
A |
G |
10: 19,626,452 (GRCm39) |
T159A |
probably damaging |
Het |
| Ints2 |
A |
G |
11: 86,103,486 (GRCm39) |
I1190T |
probably damaging |
Het |
| Jhy |
A |
G |
9: 40,872,188 (GRCm39) |
V107A |
probably null |
Het |
| Kdm4d |
C |
T |
9: 14,374,532 (GRCm39) |
R442H |
probably damaging |
Het |
| Kifbp |
T |
C |
10: 62,413,756 (GRCm39) |
Y134C |
probably benign |
Het |
| Klb |
A |
T |
5: 65,540,958 (GRCm39) |
H1017L |
probably benign |
Het |
| Kndc1 |
T |
A |
7: 139,481,285 (GRCm39) |
|
probably null |
Het |
| Krtap4-1 |
GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC |
GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC |
11: 99,518,660 (GRCm39) |
|
probably benign |
Het |
| Lrrn3 |
T |
C |
12: 41,503,047 (GRCm39) |
I423M |
probably damaging |
Het |
| Magi2 |
T |
G |
5: 20,596,365 (GRCm39) |
F274L |
probably damaging |
Het |
| Magi2 |
T |
A |
5: 20,596,392 (GRCm39) |
D283E |
probably benign |
Het |
| Map3k19 |
A |
C |
1: 127,751,492 (GRCm39) |
S620A |
probably damaging |
Het |
| Meis2 |
C |
T |
2: 115,697,369 (GRCm39) |
M388I |
probably benign |
Het |
| Ms4a3 |
G |
C |
19: 11,615,613 (GRCm39) |
H54Q |
probably benign |
Het |
| Nfe2l1 |
A |
T |
11: 96,710,585 (GRCm39) |
M548K |
possibly damaging |
Het |
| Ninl |
C |
T |
2: 150,792,234 (GRCm39) |
C763Y |
probably benign |
Het |
| Numa1 |
T |
C |
7: 101,650,834 (GRCm39) |
F1522L |
probably benign |
Het |
| Or13a25 |
T |
A |
7: 140,247,680 (GRCm39) |
I153N |
possibly damaging |
Het |
| Or2bd2 |
T |
C |
7: 6,441,922 (GRCm39) |
|
probably benign |
Het |
| Pcdhgc3 |
G |
A |
18: 37,939,916 (GRCm39) |
V106I |
probably benign |
Het |
| Phf3 |
A |
G |
1: 30,863,552 (GRCm39) |
V152A |
unknown |
Het |
| Pira1 |
A |
G |
7: 3,738,838 (GRCm39) |
S590P |
probably damaging |
Het |
| Plcg2 |
A |
T |
8: 118,284,057 (GRCm39) |
D118V |
probably damaging |
Het |
| Pnpla1 |
A |
G |
17: 29,097,443 (GRCm39) |
D203G |
probably damaging |
Het |
| Ppip5k2 |
A |
T |
1: 97,672,888 (GRCm39) |
M474K |
probably benign |
Het |
| Ppp1r12b |
T |
C |
1: 134,814,280 (GRCm39) |
E341G |
possibly damaging |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rrs1 |
C |
T |
1: 9,615,645 (GRCm39) |
|
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,318,592 (GRCm39) |
N324S |
probably damaging |
Het |
| Spaca1 |
T |
A |
4: 34,042,157 (GRCm39) |
|
probably null |
Het |
| Sun3 |
G |
T |
11: 8,979,346 (GRCm39) |
D118E |
probably benign |
Het |
| Svop |
C |
T |
5: 114,180,992 (GRCm39) |
V215I |
probably benign |
Het |
| Tbc1d15 |
A |
T |
10: 115,045,474 (GRCm39) |
C497S |
probably damaging |
Het |
| Tdrd6 |
A |
T |
17: 43,937,064 (GRCm39) |
I1328N |
probably damaging |
Het |
| Tuba8 |
T |
A |
6: 121,198,381 (GRCm39) |
D116E |
probably benign |
Het |
| Ube2z |
A |
G |
11: 95,949,200 (GRCm39) |
I213T |
possibly damaging |
Het |
| Ubqln4 |
G |
A |
3: 88,462,797 (GRCm39) |
|
probably null |
Het |
| Vps13a |
A |
G |
19: 16,631,718 (GRCm39) |
I2639T |
possibly damaging |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp94 |
A |
T |
7: 24,003,166 (GRCm39) |
V92E |
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 |
|
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 |
|
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'- ACACTAGGTTCAGTGAACAGG -3'
(R):5'- GTGTGATGCTTAGCAACCAGAC -3'
Sequencing Primer
(F):5'- CAGGAAAATGGATTAGTTTCTGTCTG -3'
(R):5'- GCTTAGCAACCAGACTATTTCAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation