Incidental Mutation 'IGL00763:Ints6'
| ID |
11478 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ints6
|
| Ensembl Gene |
ENSMUSG00000035161 |
| Gene Name |
integrator complex subunit 6 |
| Synonyms |
Notch2l, DICE1, Ddx26, 2900075H24Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00763
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
62913779-62998618 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 62938314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053959]
[ENSMUST00000223585]
|
| AlphaFold |
Q6PCM2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053959
|
| SMART Domains |
Protein: ENSMUSP00000086788
Gene: ENSMUSG00000035161
| Domain | Start | End | E-Value | Type |
|---|
|
VWA
|
1 |
158 |
4.11e-1 |
SMART |
|
Blast:VWA
|
307 |
331 |
1e-7 |
BLAST |
|
Blast:RRM_2
|
701 |
727 |
3e-8 |
BLAST |
|
Pfam:INT_SG_DDX_CT_C
|
803 |
865 |
4e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223585
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225700
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. The protein encoded by this gene is a DEAD box protein that is part of a complex that interacts with the C-terminus of RNA polymerase II and is involved in 3' end processing of snRNAs. In addition, this gene is a candidate tumor suppressor and is located in the critical region of loss of heterozygosity (LOH). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bmp3 |
A |
C |
5: 99,020,238 (GRCm39) |
R220S |
possibly damaging |
Het |
| Bms1 |
A |
G |
6: 118,395,363 (GRCm39) |
|
probably benign |
Het |
| Ccdc138 |
T |
A |
10: 58,411,537 (GRCm39) |
F635Y |
probably damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,518,823 (GRCm39) |
|
probably benign |
Het |
| Cntnap5a |
T |
C |
1: 116,045,407 (GRCm39) |
I341T |
possibly damaging |
Het |
| Cog5 |
C |
T |
12: 31,715,531 (GRCm39) |
|
probably benign |
Het |
| Dcaf4 |
G |
A |
12: 83,586,107 (GRCm39) |
R358H |
probably damaging |
Het |
| Ddx10 |
A |
C |
9: 53,071,326 (GRCm39) |
|
probably benign |
Het |
| Fgf15 |
T |
A |
7: 144,453,629 (GRCm39) |
F201I |
probably damaging |
Het |
| Galp |
A |
G |
7: 6,211,499 (GRCm39) |
Y40C |
probably damaging |
Het |
| Iqcb1 |
A |
T |
16: 36,676,649 (GRCm39) |
|
probably benign |
Het |
| Kif19a |
G |
A |
11: 114,657,994 (GRCm39) |
V18I |
probably benign |
Het |
| Lypd8l |
T |
G |
11: 58,503,707 (GRCm39) |
|
probably benign |
Het |
| Morc1 |
A |
C |
16: 48,432,689 (GRCm39) |
Q719P |
probably damaging |
Het |
| Pla2g4a |
T |
C |
1: 149,727,076 (GRCm39) |
D568G |
probably damaging |
Het |
| Plscr4 |
A |
G |
9: 92,366,998 (GRCm39) |
E204G |
probably null |
Het |
| Rasgrf1 |
A |
G |
9: 89,853,073 (GRCm39) |
T403A |
probably benign |
Het |
| Sec16b |
A |
G |
1: 157,356,827 (GRCm39) |
T12A |
probably benign |
Het |
| Slc12a7 |
A |
T |
13: 73,942,201 (GRCm39) |
N359I |
possibly damaging |
Het |
| Slc14a2 |
G |
T |
18: 78,235,453 (GRCm39) |
D241E |
probably damaging |
Het |
| Slc23a2 |
G |
T |
2: 131,943,420 (GRCm39) |
A27E |
probably benign |
Het |
| Slc38a8 |
T |
C |
8: 120,220,958 (GRCm39) |
I200M |
probably benign |
Het |
| Thrap3 |
C |
T |
4: 126,059,371 (GRCm39) |
G892S |
probably benign |
Het |
| Tmc6 |
A |
G |
11: 117,669,872 (GRCm39) |
L20P |
probably damaging |
Het |
| Tnfsfm13 |
T |
C |
11: 69,575,536 (GRCm39) |
D256G |
probably benign |
Het |
| Tonsl |
C |
T |
15: 76,518,068 (GRCm39) |
A605T |
probably damaging |
Het |
| Usp28 |
A |
G |
9: 48,939,463 (GRCm39) |
T240A |
probably benign |
Het |
| Zap70 |
A |
T |
1: 36,818,333 (GRCm39) |
D340V |
possibly damaging |
Het |
| Zfp512b |
A |
T |
2: 181,231,944 (GRCm39) |
F100I |
probably damaging |
Het |
|
| Other mutations in Ints6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00535:Ints6
|
APN |
14 |
62,940,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01624:Ints6
|
APN |
14 |
62,934,320 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01721:Ints6
|
APN |
14 |
62,951,188 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02146:Ints6
|
APN |
14 |
62,996,709 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
G1Funyon:Ints6
|
UTSW |
14 |
62,939,902 (GRCm39) |
missense |
probably benign |
|
|
R0302:Ints6
|
UTSW |
14 |
62,946,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0320:Ints6
|
UTSW |
14 |
62,945,084 (GRCm39) |
nonsense |
probably null |
|
|
R0543:Ints6
|
UTSW |
14 |
62,934,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0554:Ints6
|
UTSW |
14 |
62,942,200 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0620:Ints6
|
UTSW |
14 |
62,934,208 (GRCm39) |
missense |
probably benign |
|
|
R0960:Ints6
|
UTSW |
14 |
62,947,015 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1216:Ints6
|
UTSW |
14 |
62,945,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1254:Ints6
|
UTSW |
14 |
62,953,823 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1296:Ints6
|
UTSW |
14 |
62,942,352 (GRCm39) |
splice site |
probably benign |
|
|
R1548:Ints6
|
UTSW |
14 |
62,951,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1944:Ints6
|
UTSW |
14 |
62,931,089 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2040:Ints6
|
UTSW |
14 |
62,951,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2279:Ints6
|
UTSW |
14 |
62,942,131 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2844:Ints6
|
UTSW |
14 |
62,942,275 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3107:Ints6
|
UTSW |
14 |
62,998,041 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3407:Ints6
|
UTSW |
14 |
62,934,386 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3895:Ints6
|
UTSW |
14 |
62,934,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4608:Ints6
|
UTSW |
14 |
62,940,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4903:Ints6
|
UTSW |
14 |
62,939,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4964:Ints6
|
UTSW |
14 |
62,939,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4966:Ints6
|
UTSW |
14 |
62,939,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5014:Ints6
|
UTSW |
14 |
62,997,640 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5369:Ints6
|
UTSW |
14 |
62,981,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6478:Ints6
|
UTSW |
14 |
62,938,235 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7022:Ints6
|
UTSW |
14 |
62,951,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7403:Ints6
|
UTSW |
14 |
62,945,104 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7422:Ints6
|
UTSW |
14 |
62,942,224 (GRCm39) |
missense |
probably benign |
|
|
R7909:Ints6
|
UTSW |
14 |
62,996,779 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8147:Ints6
|
UTSW |
14 |
62,951,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8301:Ints6
|
UTSW |
14 |
62,939,902 (GRCm39) |
missense |
probably benign |
|
|
R8496:Ints6
|
UTSW |
14 |
62,943,325 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8502:Ints6
|
UTSW |
14 |
62,998,028 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8514:Ints6
|
UTSW |
14 |
62,933,166 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8540:Ints6
|
UTSW |
14 |
62,934,353 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8733:Ints6
|
UTSW |
14 |
62,934,297 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8810:Ints6
|
UTSW |
14 |
62,939,902 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8839:Ints6
|
UTSW |
14 |
62,931,122 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9057:Ints6
|
UTSW |
14 |
62,951,740 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9178:Ints6
|
UTSW |
14 |
62,947,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9318:Ints6
|
UTSW |
14 |
62,934,147 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation