Incidental Mutation 'R1254:Ints6'
ID |
151396 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ints6
|
Ensembl Gene |
ENSMUSG00000035161 |
Gene Name |
integrator complex subunit 6 |
Synonyms |
Notch2l, DICE1, Ddx26, 2900075H24Rik |
MMRRC Submission |
039321-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1254 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
62913779-62998618 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 62953823 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 180
(S180P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152954
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053959]
[ENSMUST00000223585]
|
AlphaFold |
Q6PCM2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053959
AA Change: S180P
PolyPhen 2
Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000086788 Gene: ENSMUSG00000035161 AA Change: S180P
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
AA Change: S180P
PolyPhen 2
Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225406
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.4%
|
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
Coro2b |
A |
G |
9: 62,336,247 (GRCm39) |
L280P |
probably damaging |
Het |
D430041D05Rik |
T |
G |
2: 104,031,648 (GRCm39) |
K1649N |
probably damaging |
Het |
Duox2 |
T |
A |
2: 122,113,959 (GRCm39) |
H1191L |
probably damaging |
Het |
Etl4 |
A |
G |
2: 20,812,734 (GRCm39) |
T1430A |
probably damaging |
Het |
Hivep3 |
A |
G |
4: 119,956,490 (GRCm39) |
Y1602C |
probably damaging |
Het |
Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
Klhdc3 |
C |
T |
17: 46,988,993 (GRCm39) |
V66I |
probably benign |
Het |
Or5p56 |
T |
A |
7: 107,589,647 (GRCm39) |
V25D |
probably benign |
Het |
Pank1 |
T |
C |
19: 34,818,260 (GRCm39) |
H93R |
probably benign |
Het |
Pcdhb16 |
T |
G |
18: 37,612,348 (GRCm39) |
V436G |
possibly damaging |
Het |
Plekha6 |
G |
A |
1: 133,200,327 (GRCm39) |
R302H |
probably benign |
Het |
Ptk2 |
C |
T |
15: 73,101,819 (GRCm39) |
R797Q |
probably benign |
Het |
Rnase10 |
A |
T |
14: 51,247,083 (GRCm39) |
M117L |
probably damaging |
Het |
Rnf151 |
A |
T |
17: 24,936,526 (GRCm39) |
C20* |
probably null |
Het |
Robo4 |
T |
C |
9: 37,322,136 (GRCm39) |
|
probably null |
Het |
Rps6ka5 |
G |
T |
12: 100,585,788 (GRCm39) |
H168Q |
probably damaging |
Het |
Sstr1 |
G |
A |
12: 58,260,108 (GRCm39) |
V244M |
possibly damaging |
Het |
Tmem147 |
A |
T |
7: 30,428,795 (GRCm39) |
Y17* |
probably null |
Het |
Vmn1r7 |
A |
G |
6: 57,001,772 (GRCm39) |
C163R |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCATCCCAACATTAACACATGCAATTT -3'
(R):5'- ctgagccatctctagcctcCTTAAGA -3'
Sequencing Primer
(F):5'- CTACAGGAATGTCAATGTTGTTTG -3'
(R):5'- cagaccatacatacgaccaaac -3'
|
Posted On |
2014-01-29 |