Incidental Mutation 'R2040:Ints6'
| ID |
225580 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints6
|
| Ensembl Gene |
ENSMUSG00000035161 |
| Gene Name |
integrator complex subunit 6 |
| Synonyms |
Notch2l, DICE1, Ddx26, 2900075H24Rik |
| MMRRC Submission |
040047-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2040 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
62913779-62998618 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 62951138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 297
(T297I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053959]
[ENSMUST00000223585]
|
| AlphaFold |
Q6PCM2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053959
AA Change: T297I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000086788
Gene: ENSMUSG00000035161
AA Change: T297I
| 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: T297I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224891
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225406
|
| Meta Mutation Damage Score |
0.1501 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
99% (67/68) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
A |
T |
5: 107,693,607 (GRCm39) |
I75L |
probably benign |
Het |
| Abca2 |
T |
C |
2: 25,333,817 (GRCm39) |
L1755P |
probably damaging |
Het |
| Adam6b |
A |
T |
12: 113,454,364 (GRCm39) |
I394L |
probably benign |
Het |
| Ano2 |
T |
A |
6: 126,016,471 (GRCm39) |
N1001K |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,906,259 (GRCm39) |
N253K |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,604,227 (GRCm39) |
C1316R |
probably benign |
Het |
| Atox1 |
T |
C |
11: 55,341,343 (GRCm39) |
Y64C |
probably benign |
Het |
| Atp13a1 |
A |
G |
8: 70,259,702 (GRCm39) |
T1098A |
possibly damaging |
Het |
| Casr |
T |
C |
16: 36,330,728 (GRCm39) |
E202G |
possibly damaging |
Het |
| Cct2 |
T |
C |
10: 116,889,018 (GRCm39) |
T494A |
probably benign |
Het |
| Cd209e |
T |
A |
8: 3,899,158 (GRCm39) |
N185Y |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,917,088 (GRCm39) |
L295P |
probably damaging |
Het |
| Cyp26a1 |
A |
G |
19: 37,686,499 (GRCm39) |
T48A |
possibly damaging |
Het |
| Elovl3 |
A |
G |
19: 46,121,567 (GRCm39) |
S37G |
probably benign |
Het |
| Fbh1 |
T |
G |
2: 11,774,706 (GRCm39) |
D13A |
possibly damaging |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Frem3 |
G |
T |
8: 81,342,455 (GRCm39) |
V1583L |
possibly damaging |
Het |
| Gm21863 |
C |
A |
12: 20,004,515 (GRCm39) |
Q4K |
possibly damaging |
Het |
| Gm266 |
T |
C |
12: 111,452,132 (GRCm39) |
T25A |
possibly damaging |
Het |
| Gm8674 |
T |
C |
13: 50,055,705 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1 |
T |
C |
12: 16,752,651 (GRCm39) |
H897R |
probably damaging |
Het |
| Hells |
A |
G |
19: 38,943,474 (GRCm39) |
D565G |
probably damaging |
Het |
| Hfm1 |
C |
T |
5: 107,049,684 (GRCm39) |
V426I |
probably damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Kmt2b |
A |
T |
7: 30,268,845 (GRCm39) |
M2628K |
probably damaging |
Het |
| Ktn1 |
T |
G |
14: 47,938,069 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
A |
13: 13,815,807 (GRCm39) |
D1230E |
probably benign |
Het |
| Mboat1 |
T |
C |
13: 30,425,300 (GRCm39) |
|
probably null |
Het |
| Moxd2 |
T |
C |
6: 40,861,887 (GRCm39) |
|
probably null |
Het |
| Mtmr4 |
T |
C |
11: 87,495,916 (GRCm39) |
M527T |
probably damaging |
Het |
| Myt1 |
T |
A |
2: 181,467,717 (GRCm39) |
N1050K |
probably damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,248,000 (GRCm39) |
V1768E |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,261,875 (GRCm39) |
C48Y |
probably damaging |
Het |
| Opn3 |
G |
A |
1: 175,491,145 (GRCm39) |
A296V |
possibly damaging |
Het |
| Or13a22 |
T |
C |
7: 140,073,295 (GRCm39) |
I248T |
probably benign |
Het |
| Or2z8 |
T |
A |
8: 72,811,607 (GRCm39) |
F28I |
possibly damaging |
Het |
| Pam |
T |
C |
1: 97,792,167 (GRCm39) |
E418G |
possibly damaging |
Het |
| Prrc2c |
A |
T |
1: 162,525,126 (GRCm39) |
N493K |
probably damaging |
Het |
| Ptpn18 |
A |
G |
1: 34,509,300 (GRCm39) |
Q165R |
probably damaging |
Het |
| Ptpro |
C |
A |
6: 137,363,162 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,833,107 (GRCm39) |
F132S |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,730,630 (GRCm39) |
C244R |
probably damaging |
Het |
| Robo3 |
A |
C |
9: 37,338,760 (GRCm39) |
V316G |
probably damaging |
Het |
| Rsl1 |
T |
C |
13: 67,330,145 (GRCm39) |
S198P |
probably damaging |
Het |
| Rsph9 |
T |
C |
17: 46,445,910 (GRCm39) |
D220G |
probably damaging |
Het |
| Rxfp2 |
A |
C |
5: 149,993,677 (GRCm39) |
I580L |
probably benign |
Het |
| Septin7 |
G |
A |
9: 25,199,532 (GRCm39) |
A144T |
possibly damaging |
Het |
| Sfn |
T |
C |
4: 133,328,603 (GRCm39) |
K160E |
probably benign |
Het |
| Ski |
A |
G |
4: 155,306,029 (GRCm39) |
Y317H |
probably damaging |
Het |
| Skic3 |
A |
C |
13: 76,328,222 (GRCm39) |
R1423S |
probably damaging |
Het |
| Slc22a22 |
A |
T |
15: 57,110,936 (GRCm39) |
Y430* |
probably null |
Het |
| Src |
A |
G |
2: 157,299,030 (GRCm39) |
K9R |
probably benign |
Het |
| Srm |
C |
T |
4: 148,678,453 (GRCm39) |
P255L |
possibly damaging |
Het |
| Stpg4 |
T |
A |
17: 87,730,075 (GRCm39) |
N90I |
probably damaging |
Het |
| Sytl2 |
T |
A |
7: 90,031,069 (GRCm39) |
|
probably benign |
Het |
| Tbpl2 |
T |
C |
2: 23,984,871 (GRCm39) |
K92R |
probably benign |
Het |
| Tlcd4 |
G |
T |
3: 121,024,975 (GRCm39) |
|
probably benign |
Het |
| Tmem38a |
T |
A |
8: 73,335,096 (GRCm39) |
N178K |
probably damaging |
Het |
| Tnfaip3 |
T |
C |
10: 18,883,900 (GRCm39) |
D160G |
possibly damaging |
Het |
| Vegfb |
T |
A |
19: 6,963,407 (GRCm39) |
H119L |
possibly damaging |
Het |
| Vmn2r111 |
T |
A |
17: 22,767,395 (GRCm39) |
I701F |
probably damaging |
Het |
| Vmn2r95 |
C |
T |
17: 18,661,561 (GRCm39) |
L436F |
probably damaging |
Het |
| Wdr47 |
T |
C |
3: 108,530,688 (GRCm39) |
C394R |
probably benign |
Het |
| Ythdc2 |
T |
A |
18: 44,988,241 (GRCm39) |
Y16* |
probably null |
Het |
| Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
| Zfp353-ps |
A |
G |
8: 42,535,333 (GRCm39) |
|
noncoding transcript |
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 |
|
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'- CTAATTTCTGTAAATGAGCCACACC -3'
(R):5'- AGCCCATAATCTACAAGCATTAGGC -3'
Sequencing Primer
(F):5'- GAGCCACACCTTTAAATAACAATTGG -3'
(R):5'- GATGTGTTTTAATTTTGTTTGCCCCC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation