Incidental Mutation 'IGL01624:Ints6'
ID |
92643 |
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 # |
IGL01624
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
62913779-62998618 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 62934320 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 729
(M729K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152954
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053959]
[ENSMUST00000171692]
[ENSMUST00000223585]
|
AlphaFold |
Q6PCM2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053959
AA Change: M729K
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000086788 Gene: ENSMUSG00000035161 AA Change: M729K
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: ENSMUST00000171692
|
SMART Domains |
Protein: ENSMUSP00000125769 Gene: ENSMUSG00000091155
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
SERPIN
|
37 |
399 |
4.76e-58 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223585
AA Change: M729K
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
C |
T |
13: 77,341,205 (GRCm39) |
T18I |
probably damaging |
Het |
Acod1 |
A |
G |
14: 103,292,669 (GRCm39) |
T398A |
probably benign |
Het |
Adgrl2 |
A |
G |
3: 148,542,163 (GRCm39) |
V853A |
probably damaging |
Het |
Ankhd1 |
T |
C |
18: 36,791,066 (GRCm39) |
S2488P |
probably damaging |
Het |
Ankrd28 |
T |
C |
14: 31,432,814 (GRCm39) |
I578V |
probably benign |
Het |
Atp2c2 |
A |
C |
8: 120,484,189 (GRCm39) |
R933S |
probably benign |
Het |
Cyp26a1 |
A |
T |
19: 37,686,781 (GRCm39) |
I78F |
possibly damaging |
Het |
Gck |
A |
G |
11: 5,853,106 (GRCm39) |
V338A |
possibly damaging |
Het |
Kank2 |
C |
A |
9: 21,691,676 (GRCm39) |
G500W |
probably damaging |
Het |
Kansl1 |
G |
A |
11: 104,315,378 (GRCm39) |
T220I |
probably benign |
Het |
Lgi4 |
T |
C |
7: 30,767,113 (GRCm39) |
L380P |
probably damaging |
Het |
Lhx9 |
G |
T |
1: 138,760,521 (GRCm39) |
Y276* |
probably null |
Het |
Lipm |
T |
A |
19: 34,098,545 (GRCm39) |
Y340N |
probably damaging |
Het |
Mlxip |
A |
G |
5: 123,533,392 (GRCm39) |
T134A |
probably benign |
Het |
Nwd2 |
A |
T |
5: 63,964,153 (GRCm39) |
I1246F |
probably damaging |
Het |
Or14j3 |
A |
T |
17: 37,900,816 (GRCm39) |
W143R |
probably benign |
Het |
Or6c69c |
T |
A |
10: 129,910,519 (GRCm39) |
L80H |
probably damaging |
Het |
Or8h9 |
A |
G |
2: 86,789,574 (GRCm39) |
V76A |
probably benign |
Het |
Rbm44 |
T |
A |
1: 91,084,380 (GRCm39) |
N601K |
probably damaging |
Het |
Rgs4 |
T |
A |
1: 169,572,047 (GRCm39) |
Y84F |
probably benign |
Het |
Scn7a |
T |
C |
2: 66,582,269 (GRCm39) |
T131A |
probably benign |
Het |
Slc34a1 |
A |
G |
13: 23,998,969 (GRCm39) |
I121V |
probably benign |
Het |
Slitrk5 |
T |
A |
14: 111,918,526 (GRCm39) |
Y717N |
probably damaging |
Het |
Sox6 |
A |
G |
7: 115,076,203 (GRCm39) |
S770P |
probably damaging |
Het |
Spata31 |
T |
C |
13: 65,069,399 (GRCm39) |
W516R |
probably damaging |
Het |
Sugt1 |
A |
G |
14: 79,834,230 (GRCm39) |
N77S |
probably benign |
Het |
Sumf1 |
C |
T |
6: 108,130,162 (GRCm39) |
D186N |
probably damaging |
Het |
Syde2 |
T |
C |
3: 145,712,790 (GRCm39) |
L709S |
probably damaging |
Het |
Tcp1 |
T |
A |
17: 13,138,812 (GRCm39) |
I163K |
probably benign |
Het |
Upf2 |
A |
T |
2: 6,038,990 (GRCm39) |
E287D |
probably benign |
Het |
Usp17lb |
A |
G |
7: 104,491,720 (GRCm39) |
|
probably benign |
Het |
Vmn2r10 |
G |
A |
5: 109,154,112 (GRCm39) |
S64F |
possibly 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 |
IGL00763:Ints6
|
APN |
14 |
62,938,314 (GRCm39) |
splice site |
probably benign |
|
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 |
2013-12-09 |