Incidental Mutation 'R4479:Ints4'
| ID |
331399 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints4
|
| Ensembl Gene |
ENSMUSG00000025133 |
| Gene Name |
integrator complex subunit 4 |
| Synonyms |
2610034N24Rik |
| MMRRC Submission |
041736-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R4479 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
97130163-97190602 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97134178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 37
(S37P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026126]
|
| AlphaFold |
Q8CIM8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026126
AA Change: S37P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026126
Gene: ENSMUSG00000025133
AA Change: S37P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205481
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206644
|
| Meta Mutation Damage Score |
0.1378 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
95% (36/38) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,654,663 (GRCm39) |
T553A |
possibly damaging |
Het |
| Adamts20 |
C |
T |
15: 94,301,326 (GRCm39) |
R66H |
probably damaging |
Het |
| Anks1b |
A |
G |
10: 89,885,754 (GRCm39) |
E150G |
probably damaging |
Het |
| Chp2 |
A |
G |
7: 121,820,141 (GRCm39) |
D97G |
probably benign |
Het |
| Cnbd2 |
T |
C |
2: 156,175,573 (GRCm39) |
|
probably benign |
Het |
| D130040H23Rik |
C |
A |
8: 69,755,155 (GRCm39) |
H187N |
possibly damaging |
Het |
| Dusp15 |
A |
G |
2: 152,786,102 (GRCm39) |
L135P |
probably damaging |
Het |
| Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
| Erlin2 |
G |
T |
8: 27,515,127 (GRCm39) |
V10L |
probably benign |
Het |
| F830104G03Rik |
A |
G |
3: 56,797,634 (GRCm39) |
S98P |
unknown |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Gm3159 |
T |
C |
14: 4,398,584 (GRCm38) |
Y92H |
probably damaging |
Het |
| Ighv1-22 |
G |
T |
12: 114,710,283 (GRCm39) |
A15E |
possibly damaging |
Het |
| Irs1 |
G |
A |
1: 82,265,015 (GRCm39) |
T1067I |
probably damaging |
Het |
| Lrrc28 |
C |
T |
7: 67,181,362 (GRCm39) |
|
probably null |
Het |
| Or10v1 |
A |
G |
19: 11,873,922 (GRCm39) |
Y179C |
probably damaging |
Het |
| Or4a71 |
A |
G |
2: 89,358,514 (GRCm39) |
I80T |
possibly damaging |
Het |
| Or5ac24 |
G |
A |
16: 59,165,230 (GRCm39) |
T278I |
probably damaging |
Het |
| Psg18 |
C |
T |
7: 18,084,787 (GRCm39) |
S103N |
probably benign |
Het |
| Psma3 |
T |
C |
12: 71,031,555 (GRCm39) |
|
probably benign |
Het |
| Slc7a11 |
T |
C |
3: 50,372,412 (GRCm39) |
|
probably benign |
Het |
| Tas2r115 |
T |
C |
6: 132,714,495 (GRCm39) |
D152G |
probably damaging |
Het |
| Tti1 |
A |
T |
2: 157,850,315 (GRCm39) |
L308Q |
possibly damaging |
Het |
| Unc93b1 |
G |
A |
19: 3,985,236 (GRCm39) |
A15T |
probably benign |
Het |
| Usp43 |
G |
A |
11: 67,747,233 (GRCm39) |
R820C |
possibly damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Vps8 |
A |
T |
16: 21,363,986 (GRCm39) |
|
probably benign |
Het |
| Wdr73 |
T |
C |
7: 80,542,969 (GRCm39) |
E213G |
probably benign |
Het |
| Zfp286 |
C |
G |
11: 62,671,030 (GRCm39) |
G348R |
probably damaging |
Het |
| Zkscan5 |
T |
C |
5: 145,147,984 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
R6961:Ints4
|
UTSW |
7 |
97,190,397 (GRCm39) |
makesense |
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'- CCAGGACGTAAGGAACCTATAGTG -3'
(R):5'- GTATGGCTCTGACAAACAACCC -3'
Sequencing Primer
(F):5'- TCAGGCCATAATCAGGCTTG -3'
(R):5'- ACCCACCATGTCCTCGAGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation