Incidental Mutation 'R2084:Ints8'
| ID |
230185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints8
|
| Ensembl Gene |
ENSMUSG00000040738 |
| Gene Name |
integrator complex subunit 8 |
| Synonyms |
2810013E07Rik, D130008D20Rik |
| MMRRC Submission |
040089-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R2084 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
11199158-11254258 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11230377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 488
(V488A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044616]
[ENSMUST00000108318]
[ENSMUST00000108319]
|
| AlphaFold |
Q80V86 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044616
AA Change: V488A
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000038418
Gene: ENSMUSG00000040738
AA Change: V488A
| 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 benign
Transcript: ENSMUST00000108318
AA Change: V488A
PolyPhen 2
Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103954
Gene: ENSMUSG00000040738
AA Change: V488A
| 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 benign
Transcript: ENSMUST00000108319
AA Change: V488A
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103955
Gene: ENSMUSG00000040738
AA Change: V488A
| 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
|
| Meta Mutation Damage Score |
0.0747 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (53/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd36 |
C |
T |
11: 5,612,378 (GRCm39) |
Q1237* |
probably null |
Het |
| Aph1c |
T |
G |
9: 66,726,579 (GRCm39) |
R258S |
probably damaging |
Het |
| Arfgap3 |
T |
A |
15: 83,218,767 (GRCm39) |
N102I |
probably damaging |
Het |
| Astn1 |
T |
C |
1: 158,299,978 (GRCm39) |
V106A |
probably damaging |
Het |
| BC005537 |
G |
T |
13: 24,996,698 (GRCm39) |
|
probably null |
Het |
| Card10 |
G |
A |
15: 78,677,171 (GRCm39) |
T412M |
possibly damaging |
Het |
| Cars1 |
T |
C |
7: 143,140,919 (GRCm39) |
I126M |
probably benign |
Het |
| Cfap20dc |
T |
C |
14: 8,558,171 (GRCm38) |
D138G |
probably damaging |
Het |
| Col11a1 |
C |
T |
3: 113,951,791 (GRCm39) |
R1074C |
probably damaging |
Het |
| Cpped1 |
T |
C |
16: 11,646,365 (GRCm39) |
D153G |
probably damaging |
Het |
| Cyp2j11 |
T |
A |
4: 96,227,438 (GRCm39) |
I193F |
probably damaging |
Het |
| Dnm2 |
T |
C |
9: 21,411,667 (GRCm39) |
|
probably null |
Het |
| Efemp1 |
A |
G |
11: 28,865,763 (GRCm39) |
D288G |
probably damaging |
Het |
| Espl1 |
T |
C |
15: 102,205,286 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
G |
A |
7: 27,856,960 (GRCm39) |
V2103M |
probably damaging |
Het |
| Fcrl5 |
T |
C |
3: 87,351,537 (GRCm39) |
F262L |
probably benign |
Het |
| Gh |
G |
A |
11: 106,191,958 (GRCm39) |
P84L |
probably damaging |
Het |
| Gm10267 |
T |
C |
18: 44,290,397 (GRCm39) |
R37G |
probably benign |
Het |
| Hmgxb3 |
C |
T |
18: 61,288,095 (GRCm39) |
|
probably benign |
Het |
| Ifit2 |
T |
C |
19: 34,550,750 (GRCm39) |
W97R |
probably damaging |
Het |
| Ift81 |
T |
G |
5: 122,705,410 (GRCm39) |
K491Q |
probably benign |
Het |
| Krba1 |
T |
A |
6: 48,391,502 (GRCm39) |
L797Q |
probably damaging |
Het |
| Krr1 |
T |
C |
10: 111,812,690 (GRCm39) |
V100A |
probably damaging |
Het |
| Nav1 |
C |
T |
1: 135,535,158 (GRCm39) |
|
probably benign |
Het |
| Nos1 |
C |
A |
5: 118,081,310 (GRCm39) |
Q1205K |
probably damaging |
Het |
| Nup85 |
A |
T |
11: 115,459,517 (GRCm39) |
D125V |
possibly damaging |
Het |
| Or5ak23 |
T |
C |
2: 85,244,959 (GRCm39) |
E88G |
probably benign |
Het |
| Pclo |
T |
G |
5: 14,732,162 (GRCm39) |
S3555A |
probably benign |
Het |
| Pdzrn3 |
T |
C |
6: 101,131,256 (GRCm39) |
I473V |
probably benign |
Het |
| Polr1a |
A |
G |
6: 71,927,793 (GRCm39) |
E848G |
possibly damaging |
Het |
| Pop1 |
T |
C |
15: 34,508,744 (GRCm39) |
|
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,425,920 (GRCm39) |
T8S |
probably damaging |
Het |
| Prpf3 |
C |
T |
3: 95,756,301 (GRCm39) |
E117K |
probably benign |
Het |
| Psmg3 |
C |
T |
5: 139,809,744 (GRCm39) |
V101M |
probably benign |
Het |
| Rexo1 |
G |
A |
10: 80,397,100 (GRCm39) |
S52L |
probably benign |
Het |
| Ryk |
C |
T |
9: 102,752,971 (GRCm39) |
T210M |
probably damaging |
Het |
| Sde2 |
A |
G |
1: 180,690,198 (GRCm39) |
E306G |
probably damaging |
Het |
| Sec24c |
A |
G |
14: 20,741,347 (GRCm39) |
Q658R |
probably benign |
Het |
| Sgsm1 |
G |
A |
5: 113,433,266 (GRCm39) |
T183I |
probably damaging |
Het |
| Skint7 |
T |
A |
4: 111,837,375 (GRCm39) |
V51E |
probably damaging |
Het |
| Slc6a5 |
T |
A |
7: 49,598,002 (GRCm39) |
M622K |
probably benign |
Het |
| Slco1a5 |
T |
C |
6: 142,180,437 (GRCm39) |
H655R |
probably benign |
Het |
| Slco1c1 |
T |
A |
6: 141,505,578 (GRCm39) |
Y452* |
probably null |
Het |
| Spn |
T |
C |
7: 126,736,210 (GRCm39) |
E99G |
probably benign |
Het |
| Ssc5d |
A |
G |
7: 4,940,011 (GRCm39) |
I789V |
probably benign |
Het |
| Taok2 |
G |
A |
7: 126,469,363 (GRCm39) |
T1155I |
probably benign |
Het |
| Tet2 |
T |
C |
3: 133,193,528 (GRCm39) |
Q302R |
possibly damaging |
Het |
| Trmt1l |
A |
G |
1: 151,316,605 (GRCm39) |
T189A |
probably damaging |
Het |
| Tubal3 |
T |
C |
13: 3,978,192 (GRCm39) |
I36T |
possibly damaging |
Het |
| Vmn2r71 |
A |
T |
7: 85,267,945 (GRCm39) |
Y133F |
probably benign |
Het |
| Vps11 |
G |
T |
9: 44,264,558 (GRCm39) |
H673N |
probably benign |
Het |
| Zc3h12a |
C |
T |
4: 125,013,802 (GRCm39) |
S354N |
probably benign |
Het |
| Zfp2 |
A |
G |
11: 50,791,789 (GRCm39) |
S85P |
probably benign |
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 |
|
|
R1701:Ints8
|
UTSW |
4 |
11,231,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GGCTGACCATCCCAATTCCT -3'
(R):5'- TGGCTTATGACTAATAATTGGTCCA -3'
Sequencing Primer
(F):5'- AGCACTATGGTATCTAGGTCTATTCC -3'
(R):5'- ATTGGTCCATATGAATGTTTTTCCC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation