Incidental Mutation 'R6961:Ints4'
| ID |
541758 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints4
|
| Ensembl Gene |
ENSMUSG00000025133 |
| Gene Name |
integrator complex subunit 4 |
| Synonyms |
2610034N24Rik |
| MMRRC Submission |
045071-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R6961 (G1)
|
| Quality Score |
152.008 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
97130163-97190602 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 97190397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 965
(*965W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026126]
|
| AlphaFold |
Q8CIM8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026126
AA Change: *965W
|
| SMART Domains |
Protein: ENSMUSP00000026126
Gene: ENSMUSG00000025133
AA Change: *965W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HEAT_2
|
153 |
258 |
9.8e-9 |
PFAM |
|
Pfam:Cohesin_HEAT
|
179 |
219 |
7.7e-6 |
PFAM |
|
low complexity region
|
518 |
527 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.8%
|
| Validation Efficiency |
100% (51/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INTS4 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,024,148 (GRCm39) |
L168P |
probably damaging |
Het |
| Atp6v0d1 |
A |
G |
8: 106,255,849 (GRCm39) |
L173P |
probably damaging |
Het |
| Baiap2l2 |
A |
G |
15: 79,168,835 (GRCm39) |
F23L |
probably damaging |
Het |
| Cd200l1 |
T |
A |
16: 45,264,366 (GRCm39) |
Y64F |
probably benign |
Het |
| Cdh23 |
G |
C |
10: 60,485,893 (GRCm39) |
L41V |
probably benign |
Het |
| Cep120 |
C |
A |
18: 53,836,277 (GRCm39) |
E803* |
probably null |
Het |
| Clcn7 |
C |
T |
17: 25,376,188 (GRCm39) |
P560S |
probably damaging |
Het |
| Cldn12 |
A |
T |
5: 5,557,707 (GRCm39) |
V240D |
probably damaging |
Het |
| Clec1a |
C |
T |
6: 129,406,946 (GRCm39) |
E190K |
probably benign |
Het |
| Cntnap5b |
A |
G |
1: 100,202,197 (GRCm39) |
E348G |
probably benign |
Het |
| Crispld1 |
T |
A |
1: 17,832,365 (GRCm39) |
H450Q |
probably damaging |
Het |
| Dsc2 |
A |
T |
18: 20,171,279 (GRCm39) |
N573K |
probably damaging |
Het |
| Fam186a |
T |
A |
15: 99,838,082 (GRCm39) |
I2721F |
probably benign |
Het |
| Fbxl13 |
A |
G |
5: 21,748,740 (GRCm39) |
F393S |
probably damaging |
Het |
| Fut1 |
A |
T |
7: 45,268,963 (GRCm39) |
I306F |
probably damaging |
Het |
| Gas2l3 |
T |
C |
10: 89,249,153 (GRCm39) |
D655G |
probably benign |
Het |
| Gm29106 |
A |
T |
1: 118,128,128 (GRCm39) |
K607* |
probably null |
Het |
| Gm57858 |
T |
A |
3: 36,104,766 (GRCm39) |
I32F |
possibly damaging |
Het |
| Hmg20a |
T |
C |
9: 56,396,012 (GRCm39) |
V268A |
probably benign |
Het |
| Il2rb |
T |
A |
15: 78,370,024 (GRCm39) |
Y205F |
probably damaging |
Het |
| Itsn2 |
T |
A |
12: 4,723,420 (GRCm39) |
C1118* |
probably null |
Het |
| Jakmip1 |
T |
C |
5: 37,330,697 (GRCm39) |
L459P |
probably damaging |
Het |
| Klhl8 |
T |
C |
5: 104,018,435 (GRCm39) |
T323A |
possibly damaging |
Het |
| Mindy3 |
C |
A |
2: 12,400,989 (GRCm39) |
|
probably null |
Het |
| Myo3a |
A |
G |
2: 22,250,369 (GRCm39) |
T79A |
probably benign |
Het |
| Myom2 |
G |
A |
8: 15,167,741 (GRCm39) |
A1109T |
probably null |
Het |
| Napa |
C |
T |
7: 15,843,034 (GRCm39) |
R53* |
probably null |
Het |
| Nudt21 |
A |
C |
8: 94,755,508 (GRCm39) |
D133E |
probably benign |
Het |
| Or2y3 |
T |
A |
17: 38,393,096 (GRCm39) |
I258F |
probably damaging |
Het |
| Or4c115 |
T |
A |
2: 88,928,149 (GRCm39) |
M41L |
probably benign |
Het |
| Or52b1 |
A |
T |
7: 104,978,913 (GRCm39) |
I162K |
probably damaging |
Het |
| Or52s19 |
A |
G |
7: 103,007,789 (GRCm39) |
V204A |
possibly damaging |
Het |
| Or56a41 |
A |
T |
7: 104,741,978 (GRCm39) |
M16K |
probably benign |
Het |
| Or6c7 |
T |
C |
10: 129,323,331 (GRCm39) |
F151L |
probably damaging |
Het |
| Pate13 |
G |
A |
9: 35,819,740 (GRCm39) |
M1I |
probably null |
Het |
| Pira13 |
T |
C |
7: 3,828,124 (GRCm39) |
Y61C |
probably damaging |
Het |
| Pla2g4e |
G |
T |
2: 120,004,851 (GRCm39) |
|
probably null |
Het |
| Ptbp1 |
T |
C |
10: 79,695,111 (GRCm39) |
|
probably null |
Het |
| Scfd2 |
A |
C |
5: 74,680,202 (GRCm39) |
V317G |
possibly damaging |
Het |
| Slc45a1 |
T |
C |
4: 150,714,110 (GRCm39) |
M712V |
probably damaging |
Het |
| Smg7 |
A |
T |
1: 152,717,334 (GRCm39) |
L919* |
probably null |
Het |
| Sspo |
T |
A |
6: 48,440,811 (GRCm39) |
S1758T |
probably benign |
Het |
| Tgfb2 |
A |
T |
1: 186,382,032 (GRCm39) |
M165K |
possibly damaging |
Het |
| Tie1 |
C |
T |
4: 118,343,402 (GRCm39) |
V154M |
probably damaging |
Het |
| Timm17a |
A |
G |
1: 135,238,816 (GRCm39) |
|
probably benign |
Het |
| Tlr5 |
C |
T |
1: 182,801,076 (GRCm39) |
R127* |
probably null |
Het |
| Ttc29 |
A |
C |
8: 79,003,545 (GRCm39) |
I254L |
possibly damaging |
Het |
| Unc79 |
T |
C |
12: 103,079,174 (GRCm39) |
S1780P |
probably damaging |
Het |
| Vmn2r106 |
A |
T |
17: 20,488,646 (GRCm39) |
Y584* |
probably null |
Het |
| Zbtb24 |
A |
G |
10: 41,331,171 (GRCm39) |
E366G |
probably damaging |
Het |
|
| Other mutations in Ints4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00765:Ints4
|
APN |
7 |
97,184,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01736:Ints4
|
APN |
7 |
97,175,849 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01862:Ints4
|
APN |
7 |
97,190,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02277:Ints4
|
APN |
7 |
97,136,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02396:Ints4
|
APN |
7 |
97,187,107 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02661:Ints4
|
APN |
7 |
97,144,912 (GRCm39) |
missense |
probably benign |
|
|
IGL02750:Ints4
|
APN |
7 |
97,166,964 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03108:Ints4
|
APN |
7 |
97,140,137 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0332:Ints4
|
UTSW |
7 |
97,166,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0449:Ints4
|
UTSW |
7 |
97,178,430 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1065:Ints4
|
UTSW |
7 |
97,157,099 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1722:Ints4
|
UTSW |
7 |
97,162,786 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2060:Ints4
|
UTSW |
7 |
97,150,970 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2211:Ints4
|
UTSW |
7 |
97,158,957 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3731:Ints4
|
UTSW |
7 |
97,155,308 (GRCm39) |
missense |
probably benign |
0.18 |
|
R3881:Ints4
|
UTSW |
7 |
97,165,464 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4089:Ints4
|
UTSW |
7 |
97,178,462 (GRCm39) |
nonsense |
probably null |
|
|
R4192:Ints4
|
UTSW |
7 |
97,156,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4479:Ints4
|
UTSW |
7 |
97,134,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4980:Ints4
|
UTSW |
7 |
97,151,057 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5029:Ints4
|
UTSW |
7 |
97,158,981 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5306:Ints4
|
UTSW |
7 |
97,158,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6160:Ints4
|
UTSW |
7 |
97,158,790 (GRCm39) |
splice site |
probably null |
|
|
R6317:Ints4
|
UTSW |
7 |
97,178,425 (GRCm39) |
nonsense |
probably null |
|
|
R7026:Ints4
|
UTSW |
7 |
97,168,361 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7156:Ints4
|
UTSW |
7 |
97,184,493 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7205:Ints4
|
UTSW |
7 |
97,184,433 (GRCm39) |
nonsense |
probably null |
|
|
R7234:Ints4
|
UTSW |
7 |
97,179,507 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7418:Ints4
|
UTSW |
7 |
97,140,179 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7423:Ints4
|
UTSW |
7 |
97,156,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7462:Ints4
|
UTSW |
7 |
97,155,335 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7658:Ints4
|
UTSW |
7 |
97,178,460 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7947:Ints4
|
UTSW |
7 |
97,148,792 (GRCm39) |
missense |
probably benign |
|
|
R8114:Ints4
|
UTSW |
7 |
97,165,732 (GRCm39) |
splice site |
probably null |
|
|
R8426:Ints4
|
UTSW |
7 |
97,150,239 (GRCm39) |
nonsense |
probably null |
|
|
R8765:Ints4
|
UTSW |
7 |
97,151,016 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8777:Ints4
|
UTSW |
7 |
97,134,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8777-TAIL:Ints4
|
UTSW |
7 |
97,134,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8944:Ints4
|
UTSW |
7 |
97,183,593 (GRCm39) |
missense |
probably benign |
|
|
R9001:Ints4
|
UTSW |
7 |
97,190,276 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9057:Ints4
|
UTSW |
7 |
97,158,987 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9315:Ints4
|
UTSW |
7 |
97,156,840 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACCATGCCAAGTGGAAGTG -3'
(R):5'- GAAACTAGAACAGCTAGGTGTTTTCTC -3'
Sequencing Primer
(F):5'- CCAAGTGGAAGTGAGGCTATTGC -3'
(R):5'- CTCAACTTTATTATGGGAATGGAGG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation