Incidental Mutation 'R1701:Ints8'
ID |
189707 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ints8
|
Ensembl Gene |
ENSMUSG00000040738 |
Gene Name |
integrator complex subunit 8 |
Synonyms |
2810013E07Rik, D130008D20Rik |
MMRRC Submission |
039734-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.962)
|
Stock # |
R1701 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
11199158-11254258 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 11231656 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 443
(L443P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044616]
[ENSMUST00000108318]
[ENSMUST00000108319]
|
AlphaFold |
Q80V86 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044616
AA Change: L443P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000038418 Gene: ENSMUSG00000040738 AA Change: L443P
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
low complexity region
|
80 |
93 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108318
AA Change: L443P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103954 Gene: ENSMUSG00000040738 AA Change: L443P
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
low complexity region
|
80 |
93 |
N/A |
INTRINSIC |
SCOP:d1a17__
|
826 |
961 |
9e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108319
AA Change: L443P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103955 Gene: ENSMUSG00000040738 AA Change: L443P
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
low complexity region
|
80 |
93 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137054
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147372
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the Integrator complex which is involved in the cleavage of small nuclear RNAs U1 and U2 within the nucleus. The encoded protein associates with RNA polymerase II and is recruited to the U1 and U2 small nuclear RNA genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
|
Allele List at MGI |
All alleles(14) : Targeted(1) Gene trapped(13)
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl3 |
A |
G |
4: 144,190,142 (GRCm39) |
L53P |
probably damaging |
Het |
Acadsb |
T |
A |
7: 131,026,213 (GRCm39) |
F19I |
probably benign |
Het |
Aldh3a2 |
C |
T |
11: 61,147,598 (GRCm39) |
G303S |
probably damaging |
Het |
Anks1b |
T |
C |
10: 89,885,816 (GRCm39) |
Y171H |
probably damaging |
Het |
Anxa7 |
A |
T |
14: 20,510,229 (GRCm39) |
I385N |
probably damaging |
Het |
Astn1 |
A |
T |
1: 158,331,877 (GRCm39) |
T324S |
possibly damaging |
Het |
Ccdc88a |
T |
C |
11: 29,427,427 (GRCm39) |
V235A |
possibly damaging |
Het |
Crhr2 |
T |
C |
6: 55,076,255 (GRCm39) |
K258R |
probably damaging |
Het |
Ctnnd1 |
T |
C |
2: 84,439,335 (GRCm39) |
E786G |
probably damaging |
Het |
Ctnnd2 |
G |
A |
15: 30,922,127 (GRCm39) |
D918N |
probably damaging |
Het |
Dnah9 |
A |
G |
11: 65,802,750 (GRCm39) |
S200P |
probably damaging |
Het |
Dot1l |
T |
C |
10: 80,626,576 (GRCm39) |
S1266P |
possibly damaging |
Het |
Efemp1 |
A |
G |
11: 28,871,750 (GRCm39) |
T422A |
possibly damaging |
Het |
Fam135b |
T |
C |
15: 71,331,578 (GRCm39) |
H1137R |
probably damaging |
Het |
Flot2 |
C |
T |
11: 77,940,373 (GRCm39) |
S40L |
possibly damaging |
Het |
Fras1 |
G |
A |
5: 96,748,643 (GRCm39) |
S706N |
probably benign |
Het |
Gbf1 |
T |
C |
19: 46,250,114 (GRCm39) |
L357P |
probably damaging |
Het |
Gpatch2l |
A |
G |
12: 86,335,726 (GRCm39) |
S476G |
probably benign |
Het |
Hbb-bh2 |
T |
C |
7: 103,489,450 (GRCm39) |
T34A |
probably benign |
Het |
Intu |
T |
A |
3: 40,618,694 (GRCm39) |
D233E |
probably damaging |
Het |
Itprid2 |
A |
G |
2: 79,466,394 (GRCm39) |
K75E |
probably damaging |
Het |
Kctd1 |
T |
A |
18: 15,102,617 (GRCm39) |
I259L |
possibly damaging |
Het |
Lama5 |
A |
G |
2: 179,863,162 (GRCm39) |
C108R |
probably damaging |
Het |
Lgals3bp |
T |
C |
11: 118,284,781 (GRCm39) |
Y266C |
probably damaging |
Het |
Lrig2 |
T |
C |
3: 104,401,993 (GRCm39) |
I111V |
probably benign |
Het |
Mtcl2 |
T |
C |
2: 156,872,539 (GRCm39) |
N936S |
probably damaging |
Het |
Myh8 |
G |
T |
11: 67,170,964 (GRCm39) |
C125F |
probably damaging |
Het |
Or2d3c |
C |
A |
7: 106,526,129 (GRCm39) |
C179F |
probably damaging |
Het |
Or2h2 |
C |
T |
17: 37,396,623 (GRCm39) |
V145M |
probably benign |
Het |
Or51a10 |
T |
C |
7: 103,699,402 (GRCm39) |
E53G |
possibly damaging |
Het |
Or5ac21 |
T |
C |
16: 59,123,651 (GRCm39) |
I46T |
probably benign |
Het |
Or5p76 |
T |
G |
7: 108,122,731 (GRCm39) |
Q142P |
probably benign |
Het |
Or5w16 |
T |
A |
2: 87,576,894 (GRCm39) |
M118K |
probably damaging |
Het |
Or6c202 |
T |
C |
10: 128,995,974 (GRCm39) |
Q293R |
probably damaging |
Het |
Or8g4 |
A |
T |
9: 39,662,365 (GRCm39) |
I228F |
probably damaging |
Het |
Pate8 |
A |
G |
9: 36,493,114 (GRCm39) |
|
probably benign |
Het |
Phc2 |
C |
T |
4: 128,645,400 (GRCm39) |
P836S |
probably damaging |
Het |
Pla2g7 |
T |
C |
17: 43,911,415 (GRCm39) |
F189S |
probably damaging |
Het |
Ptprk |
A |
G |
10: 28,342,054 (GRCm39) |
D487G |
probably damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rad54l2 |
A |
G |
9: 106,577,692 (GRCm39) |
|
probably null |
Het |
Robo4 |
G |
T |
9: 37,314,739 (GRCm39) |
V198L |
probably benign |
Het |
Selenbp1 |
C |
A |
3: 94,844,701 (GRCm39) |
H119Q |
probably damaging |
Het |
Slc25a13 |
T |
C |
6: 6,152,525 (GRCm39) |
|
probably null |
Het |
Slc35f5 |
A |
G |
1: 125,498,330 (GRCm39) |
E176G |
possibly damaging |
Het |
Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
Tenm4 |
G |
A |
7: 96,552,096 (GRCm39) |
V2512M |
probably damaging |
Het |
Tmc8 |
A |
G |
11: 117,682,188 (GRCm39) |
|
probably null |
Het |
Trim30d |
C |
T |
7: 104,133,389 (GRCm39) |
W21* |
probably null |
Het |
Ube3c |
G |
A |
5: 29,806,200 (GRCm39) |
V281I |
probably benign |
Het |
Usp17ld |
T |
C |
7: 102,899,783 (GRCm39) |
K383R |
probably benign |
Het |
Vmn1r172 |
A |
T |
7: 23,359,529 (GRCm39) |
Y138F |
probably damaging |
Het |
Vmn1r180 |
T |
C |
7: 23,652,395 (GRCm39) |
V186A |
possibly damaging |
Het |
Vmn2r25 |
T |
A |
6: 123,828,754 (GRCm39) |
|
probably null |
Het |
Vmn2r61 |
T |
C |
7: 41,949,935 (GRCm39) |
F785S |
probably damaging |
Het |
Zfp141 |
T |
A |
7: 42,125,470 (GRCm39) |
Y334F |
probably benign |
Het |
Zfp609 |
T |
C |
9: 65,638,282 (GRCm39) |
I317V |
probably benign |
Het |
Zfp879 |
A |
G |
11: 50,724,060 (GRCm39) |
I259T |
possibly damaging |
Het |
|
Other mutations in Ints8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01390:Ints8
|
APN |
4 |
11,218,679 (GRCm39) |
splice site |
probably benign |
|
IGL01925:Ints8
|
APN |
4 |
11,235,617 (GRCm39) |
splice site |
probably benign |
|
IGL02195:Ints8
|
APN |
4 |
11,221,222 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02215:Ints8
|
APN |
4 |
11,209,244 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02429:Ints8
|
APN |
4 |
11,231,720 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02484:Ints8
|
APN |
4 |
11,208,834 (GRCm39) |
nonsense |
probably null |
|
IGL02558:Ints8
|
APN |
4 |
11,218,771 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02725:Ints8
|
APN |
4 |
11,239,406 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02742:Ints8
|
APN |
4 |
11,241,627 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL02831:Ints8
|
APN |
4 |
11,245,896 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL03140:Ints8
|
APN |
4 |
11,235,565 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03171:Ints8
|
APN |
4 |
11,231,702 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03335:Ints8
|
APN |
4 |
11,216,460 (GRCm39) |
missense |
probably damaging |
1.00 |
G1Funyon:Ints8
|
UTSW |
4 |
11,246,120 (GRCm39) |
missense |
probably damaging |
1.00 |
P0026:Ints8
|
UTSW |
4 |
11,225,788 (GRCm39) |
nonsense |
probably null |
|
R0054:Ints8
|
UTSW |
4 |
11,204,595 (GRCm39) |
utr 3 prime |
probably benign |
|
R0063:Ints8
|
UTSW |
4 |
11,252,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R0063:Ints8
|
UTSW |
4 |
11,252,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R0184:Ints8
|
UTSW |
4 |
11,218,637 (GRCm39) |
missense |
probably benign |
0.03 |
R0299:Ints8
|
UTSW |
4 |
11,246,097 (GRCm39) |
missense |
probably benign |
0.04 |
R0499:Ints8
|
UTSW |
4 |
11,246,097 (GRCm39) |
missense |
probably benign |
0.04 |
R0540:Ints8
|
UTSW |
4 |
11,252,926 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0657:Ints8
|
UTSW |
4 |
11,246,097 (GRCm39) |
missense |
probably benign |
0.04 |
R1232:Ints8
|
UTSW |
4 |
11,234,587 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1296:Ints8
|
UTSW |
4 |
11,221,204 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1390:Ints8
|
UTSW |
4 |
11,239,461 (GRCm39) |
missense |
probably benign |
0.22 |
R1503:Ints8
|
UTSW |
4 |
11,245,842 (GRCm39) |
missense |
probably damaging |
0.97 |
R1587:Ints8
|
UTSW |
4 |
11,245,722 (GRCm39) |
critical splice donor site |
probably null |
|
R1721:Ints8
|
UTSW |
4 |
11,241,684 (GRCm39) |
missense |
probably damaging |
0.97 |
R1757:Ints8
|
UTSW |
4 |
11,254,109 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R1777:Ints8
|
UTSW |
4 |
11,225,600 (GRCm39) |
critical splice donor site |
probably null |
|
R1867:Ints8
|
UTSW |
4 |
11,241,684 (GRCm39) |
missense |
probably damaging |
0.97 |
R1868:Ints8
|
UTSW |
4 |
11,241,684 (GRCm39) |
missense |
probably damaging |
0.97 |
R1952:Ints8
|
UTSW |
4 |
11,221,150 (GRCm39) |
missense |
probably benign |
0.21 |
R2084:Ints8
|
UTSW |
4 |
11,230,377 (GRCm39) |
missense |
probably benign |
0.31 |
R2108:Ints8
|
UTSW |
4 |
11,235,552 (GRCm39) |
missense |
probably damaging |
0.99 |
R2202:Ints8
|
UTSW |
4 |
11,225,712 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2203:Ints8
|
UTSW |
4 |
11,225,712 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2205:Ints8
|
UTSW |
4 |
11,225,712 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2439:Ints8
|
UTSW |
4 |
11,225,725 (GRCm39) |
missense |
probably benign |
0.29 |
R2504:Ints8
|
UTSW |
4 |
11,241,642 (GRCm39) |
missense |
probably benign |
0.03 |
R3824:Ints8
|
UTSW |
4 |
11,225,621 (GRCm39) |
nonsense |
probably null |
|
R4664:Ints8
|
UTSW |
4 |
11,227,152 (GRCm39) |
missense |
probably benign |
0.04 |
R4703:Ints8
|
UTSW |
4 |
11,223,785 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4895:Ints8
|
UTSW |
4 |
11,230,367 (GRCm39) |
nonsense |
probably null |
|
R5206:Ints8
|
UTSW |
4 |
11,216,477 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5262:Ints8
|
UTSW |
4 |
11,211,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R5505:Ints8
|
UTSW |
4 |
11,221,143 (GRCm39) |
missense |
probably benign |
0.18 |
R5513:Ints8
|
UTSW |
4 |
11,248,303 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5750:Ints8
|
UTSW |
4 |
11,241,654 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5892:Ints8
|
UTSW |
4 |
11,223,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R6007:Ints8
|
UTSW |
4 |
11,208,845 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6229:Ints8
|
UTSW |
4 |
11,252,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R6466:Ints8
|
UTSW |
4 |
11,252,878 (GRCm39) |
missense |
probably damaging |
0.99 |
R6709:Ints8
|
UTSW |
4 |
11,221,117 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6986:Ints8
|
UTSW |
4 |
11,204,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R6998:Ints8
|
UTSW |
4 |
11,204,537 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7074:Ints8
|
UTSW |
4 |
11,204,574 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7221:Ints8
|
UTSW |
4 |
11,225,613 (GRCm39) |
missense |
probably benign |
0.01 |
R7772:Ints8
|
UTSW |
4 |
11,227,190 (GRCm39) |
missense |
probably damaging |
0.97 |
R7872:Ints8
|
UTSW |
4 |
11,254,062 (GRCm39) |
missense |
probably benign |
0.00 |
R7953:Ints8
|
UTSW |
4 |
11,227,128 (GRCm39) |
missense |
probably benign |
|
R8184:Ints8
|
UTSW |
4 |
11,204,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R8301:Ints8
|
UTSW |
4 |
11,246,120 (GRCm39) |
missense |
probably damaging |
1.00 |
R8708:Ints8
|
UTSW |
4 |
11,208,824 (GRCm39) |
critical splice donor site |
probably null |
|
R8868:Ints8
|
UTSW |
4 |
11,230,488 (GRCm39) |
missense |
probably benign |
|
R9245:Ints8
|
UTSW |
4 |
11,213,811 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCTGCTAAGTTGAATTCCCAGAGCCTA -3'
(R):5'- TGAAAATGGTTGGTCCCACTTCTTTCT -3'
Sequencing Primer
(F):5'- attcccagagcctacatgatac -3'
(R):5'- ccagcactcaatgtcagcc -3'
|
Posted On |
2014-05-14 |