Incidental Mutation 'R4192:Ints4'
| ID |
318355 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints4
|
| Ensembl Gene |
ENSMUSG00000025133 |
| Gene Name |
integrator complex subunit 4 |
| Synonyms |
2610034N24Rik |
| MMRRC Submission |
041023-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R4192 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
97130163-97190602 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 97156940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 337
(H337Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026126]
|
| AlphaFold |
Q8CIM8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026126
AA Change: H337Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026126
Gene: ENSMUSG00000025133
AA Change: H337Q
| 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 |
probably benign
Transcript: ENSMUST00000205876
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206644
|
| Meta Mutation Damage Score |
0.0744 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (40/40) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
G |
T |
14: 35,818,536 (GRCm39) |
R178L |
possibly damaging |
Het |
| Acot4 |
T |
C |
12: 84,089,948 (GRCm39) |
|
probably benign |
Het |
| Add3 |
C |
A |
19: 53,230,955 (GRCm39) |
D543E |
probably benign |
Het |
| Angpt4 |
A |
C |
2: 151,785,238 (GRCm39) |
D418A |
probably benign |
Het |
| Ano8 |
A |
T |
8: 71,935,936 (GRCm39) |
V260D |
probably damaging |
Het |
| Cfh |
C |
T |
1: 140,030,454 (GRCm39) |
R860H |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,710,667 (GRCm39) |
D1536G |
probably damaging |
Het |
| Dnajb9 |
A |
T |
12: 44,253,860 (GRCm39) |
D182E |
probably benign |
Het |
| Epb42 |
G |
T |
2: 120,860,570 (GRCm39) |
|
probably null |
Het |
| Fam185a |
T |
A |
5: 21,630,122 (GRCm39) |
|
probably benign |
Het |
| Fer1l6 |
A |
G |
15: 58,518,998 (GRCm39) |
D1710G |
probably damaging |
Het |
| Gabra2 |
G |
A |
5: 71,165,341 (GRCm39) |
P210S |
probably benign |
Het |
| Gm8369 |
C |
T |
19: 11,479,596 (GRCm39) |
P9S |
probably damaging |
Het |
| Il17ra |
A |
G |
6: 120,458,472 (GRCm39) |
D541G |
probably damaging |
Het |
| Itgam |
A |
G |
7: 127,663,904 (GRCm39) |
T44A |
probably benign |
Het |
| Lyst |
C |
A |
13: 13,915,098 (GRCm39) |
T3264N |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,366,835 (GRCm39) |
F1077S |
possibly damaging |
Het |
| Myo3a |
T |
A |
2: 22,412,188 (GRCm39) |
F728I |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,555,534 (GRCm39) |
E72G |
probably benign |
Het |
| Nkain3 |
G |
A |
4: 20,485,003 (GRCm39) |
Q25* |
probably null |
Het |
| Oca2 |
T |
C |
7: 55,946,997 (GRCm39) |
F342S |
probably damaging |
Het |
| Or10d1c |
T |
A |
9: 38,894,313 (GRCm39) |
Q9L |
probably benign |
Het |
| Osbpl6 |
T |
A |
2: 76,415,573 (GRCm39) |
L499Q |
probably damaging |
Het |
| Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,166,025 (GRCm39) |
N634K |
probably damaging |
Het |
| Pitpnm3 |
T |
C |
11: 71,942,785 (GRCm39) |
K818R |
possibly damaging |
Het |
| Rab3gap1 |
T |
A |
1: 127,853,207 (GRCm39) |
|
probably benign |
Het |
| Rcc1l |
T |
C |
5: 134,184,648 (GRCm39) |
T385A |
probably benign |
Het |
| Rrm2 |
T |
C |
12: 24,758,377 (GRCm39) |
I11T |
probably benign |
Het |
| Scnn1b |
A |
G |
7: 121,501,962 (GRCm39) |
T207A |
possibly damaging |
Het |
| Spata31f3 |
A |
T |
4: 42,874,185 (GRCm39) |
|
probably benign |
Het |
| Syt12 |
T |
A |
19: 4,497,709 (GRCm39) |
|
probably benign |
Het |
| Tmprss6 |
A |
T |
15: 78,330,857 (GRCm39) |
|
probably null |
Het |
| Ttbk1 |
A |
T |
17: 46,790,173 (GRCm39) |
C91S |
probably damaging |
Het |
| Ube2q2l |
T |
C |
6: 136,378,435 (GRCm39) |
T132A |
probably benign |
Het |
| Vit |
A |
G |
17: 78,894,255 (GRCm39) |
H219R |
probably benign |
Het |
| Vmn1r27 |
A |
C |
6: 58,192,812 (GRCm39) |
I14R |
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 |
|
|
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 |
|
|
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'- TAAGCATAGTCCCTGTCCAGTCAG -3'
(R):5'- TGATGCACACAAAGCAGAGTATATG -3'
Sequencing Primer
(F):5'- GCTTACTGGAGCTGTTAGAGAC -3'
(R):5'- ACGCTCCTGACTCTATCA -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation