Incidental Mutation 'R8733:Ints6'
| ID |
662883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints6
|
| Ensembl Gene |
ENSMUSG00000035161 |
| Gene Name |
integrator complex subunit 6 |
| Synonyms |
Notch2l, DICE1, Ddx26, 2900075H24Rik |
| MMRRC Submission |
068581-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8733 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
62913779-62998618 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 62934297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 737
(P737S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086788
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053959]
[ENSMUST00000171692]
[ENSMUST00000223585]
|
| AlphaFold |
Q6PCM2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053959
AA Change: P737S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000086788
Gene: ENSMUSG00000035161
AA Change: P737S
| 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: P737S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (52/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,249,627 (GRCm39) |
L1106P |
probably damaging |
Het |
| Alx3 |
C |
G |
3: 107,512,135 (GRCm39) |
P258A |
probably damaging |
Het |
| Bbs9 |
A |
G |
9: 22,582,128 (GRCm39) |
T607A |
probably benign |
Het |
| Catsperg1 |
A |
T |
7: 28,891,111 (GRCm39) |
V644E |
possibly damaging |
Het |
| Cep85 |
T |
C |
4: 133,875,472 (GRCm39) |
K499E |
possibly damaging |
Het |
| Chd5 |
A |
T |
4: 152,463,923 (GRCm39) |
H1464L |
probably damaging |
Het |
| Chrne |
A |
G |
11: 70,507,856 (GRCm39) |
L281P |
probably damaging |
Het |
| Col3a1 |
A |
G |
1: 45,379,472 (GRCm39) |
|
probably benign |
Het |
| Cpsf4l |
A |
G |
11: 113,600,279 (GRCm39) |
F13L |
possibly damaging |
Het |
| Dgcr8 |
T |
C |
16: 18,077,825 (GRCm39) |
I603V |
probably benign |
Het |
| Dhx16 |
A |
G |
17: 36,192,267 (GRCm39) |
D102G |
probably benign |
Het |
| Dnm1 |
G |
T |
2: 32,206,987 (GRCm39) |
D564E |
probably benign |
Het |
| Dync1li1 |
T |
A |
9: 114,534,178 (GRCm39) |
Y93N |
probably damaging |
Het |
| Esp31 |
A |
G |
17: 38,955,509 (GRCm39) |
I51V |
probably benign |
Het |
| Grap |
G |
T |
11: 61,562,517 (GRCm39) |
A163S |
possibly damaging |
Het |
| Hgs |
G |
A |
11: 120,360,954 (GRCm39) |
|
probably null |
Het |
| Icosl |
A |
T |
10: 77,909,697 (GRCm39) |
N214I |
probably damaging |
Het |
| Irag1 |
C |
T |
7: 110,477,425 (GRCm39) |
V564M |
probably benign |
Het |
| Lima1 |
A |
G |
15: 99,678,699 (GRCm39) |
S581P |
probably damaging |
Het |
| Lrfn2 |
G |
A |
17: 49,403,824 (GRCm39) |
R649H |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,417,532 (GRCm39) |
T3493A |
possibly damaging |
Het |
| Mup4 |
A |
T |
4: 59,958,587 (GRCm39) |
N104K |
probably damaging |
Het |
| Nedd4 |
T |
C |
9: 72,633,766 (GRCm39) |
V424A |
possibly damaging |
Het |
| Or10ag55-ps1 |
A |
T |
2: 87,115,116 (GRCm39) |
I161F |
probably benign |
Het |
| Or6c88 |
T |
A |
10: 129,406,579 (GRCm39) |
D18E |
possibly damaging |
Het |
| Or8d23 |
A |
G |
9: 38,841,985 (GRCm39) |
I173V |
probably benign |
Het |
| Otop1 |
G |
A |
5: 38,457,117 (GRCm39) |
R292H |
probably damaging |
Het |
| Otop1 |
T |
A |
5: 38,457,796 (GRCm39) |
C518* |
probably null |
Het |
| Parp3 |
C |
T |
9: 106,353,150 (GRCm39) |
V9M |
probably benign |
Het |
| Pcdhb20 |
C |
T |
18: 37,638,437 (GRCm39) |
A321V |
probably damaging |
Het |
| Pik3c2g |
C |
T |
6: 139,714,426 (GRCm39) |
Q311* |
probably null |
Het |
| Pkd1l1 |
A |
T |
11: 8,883,657 (GRCm39) |
V855D |
|
Het |
| Polr2k |
T |
A |
15: 36,176,913 (GRCm39) |
D97E |
probably benign |
Het |
| Psmd11 |
A |
G |
11: 80,325,342 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
G |
A |
2: 146,266,683 (GRCm39) |
T631M |
probably damaging |
Het |
| Ralgps1 |
C |
A |
2: 33,174,836 (GRCm39) |
|
probably null |
Het |
| Rbm18 |
A |
G |
2: 36,024,211 (GRCm39) |
S17P |
probably damaging |
Het |
| Rcc1 |
C |
A |
4: 132,065,515 (GRCm39) |
L49F |
probably benign |
Het |
| Rgma |
T |
C |
7: 73,059,036 (GRCm39) |
S63P |
possibly damaging |
Het |
| Scn1a |
T |
A |
2: 66,154,944 (GRCm39) |
I672L |
probably benign |
Het |
| Sema4c |
T |
C |
1: 36,591,954 (GRCm39) |
T270A |
probably damaging |
Het |
| Serac1 |
A |
G |
17: 6,100,303 (GRCm39) |
L479P |
probably damaging |
Het |
| Slc22a16 |
A |
G |
10: 40,450,061 (GRCm39) |
M187V |
probably benign |
Het |
| Slc41a3 |
A |
T |
6: 90,610,710 (GRCm39) |
T191S |
possibly damaging |
Het |
| Slu7 |
G |
A |
11: 43,334,167 (GRCm39) |
V398M |
probably damaging |
Het |
| Sphk1 |
A |
G |
11: 116,426,451 (GRCm39) |
T136A |
probably benign |
Het |
| Sqstm1 |
G |
T |
11: 50,101,493 (GRCm39) |
P31Q |
possibly damaging |
Het |
| Trappc11 |
A |
T |
8: 47,954,883 (GRCm39) |
V885D |
probably damaging |
Het |
| Trav6-1 |
T |
A |
14: 52,876,213 (GRCm39) |
Y44* |
probably null |
Het |
| Trav9-2 |
T |
A |
14: 53,828,755 (GRCm39) |
C42S |
probably damaging |
Het |
| Zc2hc1a |
A |
G |
3: 7,593,168 (GRCm39) |
T194A |
probably benign |
Het |
| Zfp729a |
A |
G |
13: 67,769,104 (GRCm39) |
V375A |
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 |
|
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 |
|
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'- GACCTCTTCATGGCTTCTACAATG -3'
(R):5'- GGTAGAAAACAGGCTACAGTTGTTTC -3'
Sequencing Primer
(F):5'- CATGGCTTCTACAATGCATCAATTTC -3'
(R):5'- GGTTTCATTTCAGAAGCCA -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation