Incidental Mutation 'R3407:Ints6'
| ID |
258336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints6
|
| Ensembl Gene |
ENSMUSG00000035161 |
| Gene Name |
integrator complex subunit 6 |
| Synonyms |
Notch2l, DICE1, Ddx26, 2900075H24Rik |
| MMRRC Submission |
040625-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3407 (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 T
at 62934386 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 707
(I707K)
|
| 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: I707K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000086788
Gene: ENSMUSG00000035161
AA Change: I707K
| 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: I707K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.3%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg4 |
A |
T |
X: 56,013,487 (GRCm39) |
I2838F |
probably damaging |
Het |
| Agbl2 |
G |
A |
2: 90,621,962 (GRCm39) |
V150I |
probably damaging |
Het |
| Ambra1 |
T |
C |
2: 91,740,652 (GRCm39) |
S924P |
probably damaging |
Het |
| Arfgap3 |
T |
C |
15: 83,206,808 (GRCm39) |
D260G |
probably benign |
Het |
| Bag3 |
AAAGG |
AAAGGAAGG |
7: 128,147,493 (GRCm39) |
|
probably null |
Het |
| Bag3 |
TAAAG |
TAAAGAAAG |
7: 128,147,492 (GRCm39) |
|
probably null |
Het |
| Cacnb3 |
T |
C |
15: 98,539,068 (GRCm39) |
V167A |
probably benign |
Het |
| Carm1 |
C |
T |
9: 21,497,478 (GRCm39) |
R347W |
probably damaging |
Het |
| Ccdc30 |
A |
T |
4: 119,181,778 (GRCm39) |
F577I |
possibly damaging |
Het |
| Ces3a |
T |
A |
8: 105,777,199 (GRCm39) |
V174E |
probably damaging |
Het |
| Cobl |
T |
C |
11: 12,325,830 (GRCm39) |
Y215C |
probably damaging |
Het |
| Cybrd1 |
A |
T |
2: 70,948,470 (GRCm39) |
M3L |
probably damaging |
Het |
| Dis3 |
A |
G |
14: 99,336,212 (GRCm39) |
V98A |
probably benign |
Het |
| Dsg1c |
G |
A |
18: 20,415,115 (GRCm39) |
|
probably null |
Het |
| Eif4a1 |
A |
T |
11: 69,561,089 (GRCm39) |
V72E |
probably damaging |
Het |
| Fmn1 |
A |
T |
2: 113,195,400 (GRCm39) |
I367F |
unknown |
Het |
| Fnbp1l |
A |
C |
3: 122,345,799 (GRCm39) |
W229G |
probably damaging |
Het |
| Inka1 |
C |
T |
9: 107,862,253 (GRCm39) |
R23Q |
probably damaging |
Het |
| Ipo8 |
T |
C |
6: 148,723,207 (GRCm39) |
D70G |
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,927,900 (GRCm39) |
L1014P |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,348,208 (GRCm39) |
L677P |
probably damaging |
Het |
| Mbd1 |
A |
G |
18: 74,410,438 (GRCm39) |
K414E |
possibly damaging |
Het |
| Mfsd1 |
T |
A |
3: 67,504,046 (GRCm39) |
M346K |
possibly damaging |
Het |
| Mthfr |
T |
C |
4: 148,139,518 (GRCm39) |
I66T |
probably damaging |
Het |
| Myh10 |
T |
G |
11: 68,681,037 (GRCm39) |
L989R |
possibly damaging |
Het |
| Ncan |
G |
A |
8: 70,564,801 (GRCm39) |
T271I |
probably damaging |
Het |
| Or10ag53 |
A |
C |
2: 87,083,243 (GRCm39) |
T321P |
probably benign |
Het |
| Or9s23 |
A |
G |
1: 92,501,675 (GRCm39) |
T261A |
probably damaging |
Het |
| Pate2 |
C |
T |
9: 35,582,262 (GRCm39) |
T80I |
probably damaging |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,442 (GRCm39) |
T225A |
possibly damaging |
Het |
| Pde4dip |
C |
A |
3: 97,661,784 (GRCm39) |
L640F |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,606,768 (GRCm39) |
|
probably benign |
Het |
| Pus3 |
C |
T |
9: 35,478,021 (GRCm39) |
R418C |
probably damaging |
Het |
| Sall2 |
G |
T |
14: 52,565,561 (GRCm39) |
N24K |
probably benign |
Het |
| Sh3bp4 |
G |
T |
1: 89,072,769 (GRCm39) |
C539F |
possibly damaging |
Het |
| Smco3 |
A |
G |
6: 136,808,425 (GRCm39) |
S150P |
probably benign |
Het |
| Spag17 |
G |
T |
3: 99,992,615 (GRCm39) |
A1704S |
probably benign |
Het |
| Tecta |
A |
T |
9: 42,249,150 (GRCm39) |
I1904N |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,536,281 (GRCm39) |
K33280* |
probably null |
Het |
| Uggt2 |
T |
C |
14: 119,328,682 (GRCm39) |
D90G |
probably benign |
Het |
| Vmn1r21 |
C |
T |
6: 57,820,877 (GRCm39) |
G189D |
probably damaging |
Het |
| Zbtb10 |
A |
G |
3: 9,329,926 (GRCm39) |
N428S |
probably damaging |
Het |
| Zfp407 |
G |
A |
18: 84,576,997 (GRCm39) |
A1372V |
probably benign |
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 |
|
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'- GCTGGTATATTCTCTTCGGCAC -3'
(R):5'- AGGTAGGTAGGACTCTTAAGCC -3'
Sequencing Primer
(F):5'- GGCTCCTCATGATTTTCTAAAAACC -3'
(R):5'- TAGGTAGGACTCTTAAGCCAAAAATG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation