Incidental Mutation 'R8147:Ints6'
ID |
632881 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ints6
|
Ensembl Gene |
ENSMUSG00000035161 |
Gene Name |
integrator complex subunit 6 |
Synonyms |
Notch2l, DICE1, Ddx26, 2900075H24Rik |
MMRRC Submission |
067575-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8147 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
62913779-62998618 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 62951186 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 281
(G281D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000086788
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053959]
[ENSMUST00000223585]
|
AlphaFold |
Q6PCM2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053959
AA Change: G281D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000086788 Gene: ENSMUSG00000035161 AA Change: G281D
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 damaging
Transcript: ENSMUST00000223585
AA Change: G281D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.8360 |
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 98.5%
- 20x: 94.3%
|
Validation Efficiency |
100% (55/55) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg7 |
T |
C |
16: 56,562,876 (GRCm39) |
E487G |
probably damaging |
Het |
Aldh9a1 |
T |
A |
1: 167,184,949 (GRCm39) |
I287N |
probably damaging |
Het |
Aox1 |
T |
A |
1: 58,339,821 (GRCm39) |
N371K |
probably benign |
Het |
Atr |
T |
A |
9: 95,781,113 (GRCm39) |
F1392L |
probably damaging |
Het |
Bicra |
G |
A |
7: 15,722,395 (GRCm39) |
P374L |
possibly damaging |
Het |
Cacna1b |
C |
T |
2: 24,569,188 (GRCm39) |
R912Q |
probably damaging |
Het |
Cdhr1 |
T |
C |
14: 36,801,609 (GRCm39) |
N778S |
probably benign |
Het |
Cert1 |
C |
T |
13: 96,679,736 (GRCm39) |
P22L |
probably benign |
Het |
Dgat2 |
C |
T |
7: 98,806,187 (GRCm39) |
V337I |
possibly damaging |
Het |
Dlg5 |
T |
C |
14: 24,208,395 (GRCm39) |
D937G |
probably benign |
Het |
Dqx1 |
T |
C |
6: 83,037,222 (GRCm39) |
V295A |
probably benign |
Het |
Dsg3 |
A |
G |
18: 20,673,130 (GRCm39) |
T934A |
probably benign |
Het |
Fam81b |
A |
C |
13: 76,383,140 (GRCm39) |
V243G |
probably damaging |
Het |
Gen1 |
A |
T |
12: 11,305,051 (GRCm39) |
|
probably null |
Het |
Glrx3 |
G |
A |
7: 137,064,736 (GRCm39) |
S275N |
probably benign |
Het |
Igdcc4 |
A |
T |
9: 65,031,253 (GRCm39) |
Q397L |
probably benign |
Het |
Kalrn |
A |
T |
16: 33,875,414 (GRCm39) |
S1722T |
probably benign |
Het |
Lrrc4b |
A |
G |
7: 44,111,829 (GRCm39) |
D567G |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,385,491 (GRCm39) |
L1200S |
probably damaging |
Het |
Mad1l1 |
G |
A |
5: 140,129,734 (GRCm39) |
R434C |
probably damaging |
Het |
Mia3 |
A |
T |
1: 183,109,062 (GRCm39) |
F358I |
|
Het |
Ncapd3 |
C |
T |
9: 26,942,014 (GRCm39) |
|
probably benign |
Het |
Nfkb2 |
A |
G |
19: 46,295,873 (GRCm39) |
R156G |
possibly damaging |
Het |
Nus1 |
T |
C |
10: 52,305,416 (GRCm39) |
|
probably null |
Het |
Or2y14 |
C |
T |
11: 49,405,050 (GRCm39) |
T195I |
probably benign |
Het |
Or4a79 |
T |
A |
2: 89,552,186 (GRCm39) |
I90F |
probably damaging |
Het |
Or4c31 |
T |
C |
2: 88,292,427 (GRCm39) |
F267L |
possibly damaging |
Het |
Or5aq1b |
T |
A |
2: 86,902,017 (GRCm39) |
I154F |
probably benign |
Het |
Pafah1b2 |
A |
G |
9: 45,895,147 (GRCm39) |
|
probably null |
Het |
Pold2 |
T |
C |
11: 5,826,842 (GRCm39) |
T31A |
probably benign |
Het |
Ppp1r12b |
T |
C |
1: 134,801,680 (GRCm39) |
N512S |
possibly damaging |
Het |
Prl8a8 |
A |
T |
13: 27,695,564 (GRCm39) |
L23Q |
probably damaging |
Het |
Ptprb |
T |
C |
10: 116,153,283 (GRCm39) |
V293A |
probably damaging |
Het |
Rpl18a |
G |
T |
8: 71,348,069 (GRCm39) |
T174N |
probably damaging |
Het |
Senp5 |
A |
T |
16: 31,808,128 (GRCm39) |
H375Q |
probably benign |
Het |
Setbp1 |
A |
T |
18: 78,900,015 (GRCm39) |
F1217L |
probably damaging |
Het |
Skint4 |
A |
G |
4: 111,993,218 (GRCm39) |
I314V |
probably benign |
Het |
Slc28a2 |
A |
G |
2: 122,288,682 (GRCm39) |
D596G |
probably benign |
Het |
Stat5b |
A |
G |
11: 100,688,607 (GRCm39) |
I285T |
probably benign |
Het |
Sycp3 |
T |
C |
10: 88,298,467 (GRCm39) |
|
probably null |
Het |
Sympk |
T |
C |
7: 18,770,718 (GRCm39) |
F270L |
probably damaging |
Het |
Taar5 |
T |
C |
10: 23,846,749 (GRCm39) |
V49A |
probably damaging |
Het |
Tbx18 |
C |
T |
9: 87,606,411 (GRCm39) |
V245I |
probably damaging |
Het |
Tet1 |
A |
G |
10: 62,714,586 (GRCm39) |
M403T |
probably benign |
Het |
Tmprss11f |
A |
T |
5: 86,677,769 (GRCm39) |
F333L |
probably damaging |
Het |
Tnpo3 |
T |
C |
6: 29,589,213 (GRCm39) |
I46V |
probably benign |
Het |
Traf5 |
G |
T |
1: 191,746,984 (GRCm39) |
N112K |
probably damaging |
Het |
Trim12c |
A |
T |
7: 103,991,165 (GRCm39) |
M263K |
unknown |
Het |
Trim55 |
A |
G |
3: 19,727,011 (GRCm39) |
I359M |
probably benign |
Het |
Utp20 |
A |
T |
10: 88,594,306 (GRCm39) |
W2140R |
probably benign |
Het |
Vgll3 |
T |
C |
16: 65,624,964 (GRCm39) |
V104A |
probably damaging |
Het |
Vmn2r74 |
C |
A |
7: 85,605,227 (GRCm39) |
G474* |
probably null |
Het |
Vps18 |
G |
A |
2: 119,123,237 (GRCm39) |
A98T |
probably benign |
Het |
Zfand4 |
T |
A |
6: 116,291,169 (GRCm39) |
S387T |
probably damaging |
Het |
Zfp808 |
A |
G |
13: 62,320,934 (GRCm39) |
Y721C |
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 |
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 |
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'- CTTCATGCTTCAAGCCAGC -3'
(R):5'- AAGCCCATAATCTACAAGCATTAGG -3'
Sequencing Primer
(F):5'- CTTGTGCTATACAGTTCAACAAAGCC -3'
(R):5'- GGGCAGCCAGATATATCAA -3'
|
Posted On |
2020-06-30 |