Incidental Mutation 'R3107:Ints6'
ID |
263638 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ints6
|
Ensembl Gene |
ENSMUSG00000035161 |
Gene Name |
integrator complex subunit 6 |
Synonyms |
Notch2l, DICE1, Ddx26, 2900075H24Rik |
MMRRC Submission |
040581-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3107 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
62913779-62998618 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 62998041 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 23
(T23A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152954
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053959]
[ENSMUST00000223585]
|
AlphaFold |
Q6PCM2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053959
AA Change: T23A
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000086788 Gene: ENSMUSG00000035161 AA Change: T23A
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 |
noncoding transcript
Transcript: ENSMUST00000181344
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223585
AA Change: T23A
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225193
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225250
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225406
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf4 |
A |
T |
17: 42,977,758 (GRCm39) |
Y528* |
probably null |
Het |
Ankrd26 |
A |
T |
6: 118,533,204 (GRCm39) |
F198L |
probably benign |
Het |
Arnt2 |
A |
G |
7: 83,911,652 (GRCm39) |
S607P |
possibly damaging |
Het |
Brd10 |
A |
T |
19: 29,700,847 (GRCm39) |
L814H |
probably damaging |
Het |
Ccdc17 |
T |
C |
4: 116,455,464 (GRCm39) |
V269A |
probably benign |
Het |
Cers1 |
T |
A |
8: 70,775,286 (GRCm39) |
H233Q |
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,830,545 (GRCm39) |
N1197S |
probably benign |
Het |
Cfb |
A |
G |
17: 35,080,800 (GRCm39) |
Y66H |
possibly damaging |
Het |
Clspn |
A |
G |
4: 126,485,452 (GRCm39) |
D1247G |
probably benign |
Het |
Cnnm1 |
T |
C |
19: 43,430,000 (GRCm39) |
C373R |
probably damaging |
Het |
Col19a1 |
T |
C |
1: 24,377,017 (GRCm39) |
T443A |
possibly damaging |
Het |
Cubn |
T |
C |
2: 13,367,158 (GRCm39) |
S1571G |
possibly damaging |
Het |
Ddt |
C |
T |
10: 75,608,597 (GRCm39) |
E42K |
probably benign |
Het |
Dmrt2 |
C |
A |
19: 25,655,055 (GRCm39) |
T218N |
probably benign |
Het |
Dnah7b |
G |
A |
1: 46,392,033 (GRCm39) |
G3798E |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Fam114a2 |
C |
A |
11: 57,390,561 (GRCm39) |
K317N |
probably benign |
Het |
Fyn |
G |
C |
10: 39,427,451 (GRCm39) |
D445H |
probably damaging |
Het |
Gprasp1 |
A |
T |
X: 134,700,508 (GRCm39) |
M234L |
probably benign |
Het |
Ibtk |
T |
C |
9: 85,592,467 (GRCm39) |
Y997C |
probably damaging |
Het |
Il12rb2 |
A |
G |
6: 67,337,782 (GRCm39) |
V33A |
probably damaging |
Het |
Itk |
C |
A |
11: 46,218,291 (GRCm39) |
G624V |
probably benign |
Het |
Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
Mab21l3 |
T |
A |
3: 101,734,112 (GRCm39) |
I109F |
probably damaging |
Het |
Mov10 |
T |
C |
3: 104,707,040 (GRCm39) |
E653G |
probably damaging |
Het |
Or8b51 |
C |
T |
9: 38,569,307 (GRCm39) |
C127Y |
possibly damaging |
Het |
Plg |
T |
C |
17: 12,603,316 (GRCm39) |
V74A |
probably benign |
Het |
Ptprn2 |
A |
G |
12: 116,839,800 (GRCm39) |
D441G |
probably benign |
Het |
Rbmxl2 |
G |
A |
7: 106,809,624 (GRCm39) |
G303E |
probably damaging |
Het |
Satb1 |
A |
T |
17: 52,089,810 (GRCm39) |
Y346N |
possibly damaging |
Het |
Serpina1a |
A |
T |
12: 103,820,100 (GRCm39) |
I382N |
probably damaging |
Het |
Slc6a2 |
C |
A |
8: 93,687,906 (GRCm39) |
Q11K |
probably benign |
Het |
Slc6a20a |
A |
C |
9: 123,470,773 (GRCm39) |
|
probably null |
Het |
Sorcs1 |
T |
C |
19: 50,199,088 (GRCm39) |
E825G |
possibly damaging |
Het |
Sval1 |
C |
G |
6: 41,932,876 (GRCm39) |
P145A |
probably damaging |
Het |
Trhde |
C |
T |
10: 114,427,971 (GRCm39) |
E442K |
probably damaging |
Het |
Vmn2r61 |
A |
T |
7: 41,916,491 (GRCm39) |
D368V |
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 |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTACCAGTCGCAGAAGGGTC -3'
(R):5'- AAACTCCCCATAGCTGGTGTTTTC -3'
Sequencing Primer
(F):5'- AGTACCGCACACGCAGG -3'
(R):5'- ATAGCTGGTGTTTTCCTCCCGG -3'
|
Posted On |
2015-02-05 |