Incidental Mutation 'R3056:Ints12'
| ID |
265169 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints12
|
| Ensembl Gene |
ENSMUSG00000028016 |
| Gene Name |
integrator complex subunit 12 |
| Synonyms |
Phf22, 4930529N21Rik, 1110020M19Rik, A230056J18Rik, 2810027J24Rik |
| MMRRC Submission |
040565-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3056 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
132797616-132816749 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 132815126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 444
(M444I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029650
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029650]
[ENSMUST00000147041]
|
| AlphaFold |
Q9D168 |
| PDB Structure |
Solution structure of PHD domain in protein NP_082203 [SOLUTION NMR]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029650
AA Change: M444I
PolyPhen 2
Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029650
Gene: ENSMUSG00000028016
AA Change: M444I
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
23 |
67 |
4.54e-5 |
PROSPERO |
|
low complexity region
|
74 |
82 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
91 |
139 |
4.54e-5 |
PROSPERO |
|
PHD
|
160 |
212 |
4.63e-9 |
SMART |
|
low complexity region
|
219 |
240 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
373 |
N/A |
INTRINSIC |
|
low complexity region
|
381 |
436 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147041
|
| SMART Domains |
Protein: ENSMUSP00000114238
Gene: ENSMUSG00000040969
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
49 |
N/A |
INTRINSIC |
|
RhoGEF
|
98 |
284 |
2.72e-33 |
SMART |
|
low complexity region
|
296 |
312 |
N/A |
INTRINSIC |
|
BAR
|
315 |
514 |
4.8e-29 |
SMART |
|
SH3
|
584 |
643 |
5.56e-1 |
SMART |
|
low complexity region
|
678 |
689 |
N/A |
INTRINSIC |
|
SH3
|
709 |
768 |
1.95e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160669
|
| Meta Mutation Damage Score |
0.1323 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INTS12 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
G |
4: 144,401,268 (GRCm39) |
I72T |
probably benign |
Het |
| Abca1 |
A |
T |
4: 53,127,626 (GRCm39) |
M131K |
probably benign |
Het |
| Agbl1 |
C |
T |
7: 76,416,232 (GRCm39) |
T751M |
possibly damaging |
Het |
| Asb14 |
A |
G |
14: 26,636,146 (GRCm39) |
I510V |
possibly damaging |
Het |
| Bard1 |
A |
G |
1: 71,127,390 (GRCm39) |
V73A |
possibly damaging |
Het |
| C6 |
T |
C |
15: 4,769,355 (GRCm39) |
I187T |
probably damaging |
Het |
| Catsper3 |
T |
C |
13: 55,956,709 (GRCm39) |
S376P |
unknown |
Het |
| Ccdc150 |
A |
G |
1: 54,328,001 (GRCm39) |
N361S |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 10,419,076 (GRCm39) |
L7P |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,280,491 (GRCm39) |
S2805P |
unknown |
Het |
| Cxcr6 |
A |
T |
9: 123,639,529 (GRCm39) |
I177F |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,307,869 (GRCm39) |
D3061G |
possibly damaging |
Het |
| Epas1 |
T |
C |
17: 87,138,409 (GRCm39) |
F835S |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,871,792 (GRCm39) |
R3533H |
probably benign |
Het |
| Fxr1 |
A |
G |
3: 34,103,333 (GRCm39) |
E221G |
probably damaging |
Het |
| Gpatch11 |
A |
G |
17: 79,151,272 (GRCm39) |
T228A |
probably damaging |
Het |
| Greb1 |
G |
T |
12: 16,738,592 (GRCm39) |
T1457K |
probably damaging |
Het |
| Ighm |
T |
A |
12: 113,382,596 (GRCm39) |
|
probably benign |
Het |
| Lmx1b |
G |
A |
2: 33,457,297 (GRCm39) |
Q168* |
probably null |
Het |
| Ltbp3 |
C |
A |
19: 5,801,434 (GRCm39) |
N659K |
probably benign |
Het |
| Micos13 |
A |
G |
17: 56,915,889 (GRCm39) |
F55S |
probably damaging |
Het |
| Mrpl20 |
G |
T |
4: 155,888,329 (GRCm39) |
V43F |
possibly damaging |
Het |
| Nlgn1 |
T |
C |
3: 25,487,860 (GRCm39) |
N825S |
possibly damaging |
Het |
| Or5d36 |
T |
A |
2: 87,901,583 (GRCm39) |
T48S |
probably benign |
Het |
| Or5p67 |
A |
T |
7: 107,922,757 (GRCm39) |
V42E |
possibly damaging |
Het |
| Or8k3b |
C |
A |
2: 86,520,896 (GRCm39) |
C141F |
possibly damaging |
Het |
| Pccb |
C |
T |
9: 100,912,250 (GRCm39) |
R79Q |
probably damaging |
Het |
| Peg10 |
G |
A |
6: 4,755,029 (GRCm39) |
R270H |
possibly damaging |
Het |
| Pttg1ip2 |
A |
T |
5: 5,507,283 (GRCm39) |
|
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc4a4 |
T |
C |
5: 89,373,807 (GRCm39) |
V971A |
probably damaging |
Het |
| Timm29 |
T |
C |
9: 21,504,887 (GRCm39) |
M185T |
probably damaging |
Het |
| Tmem92 |
C |
T |
11: 94,669,873 (GRCm39) |
C86Y |
probably benign |
Het |
| Tnfrsf8 |
C |
T |
4: 145,011,895 (GRCm39) |
|
probably null |
Het |
| Tnks1bp1 |
T |
A |
2: 84,900,344 (GRCm39) |
C1433* |
probably null |
Het |
| Utp14b |
T |
A |
1: 78,642,442 (GRCm39) |
D113E |
possibly damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,803,360 (GRCm39) |
Y405F |
probably damaging |
Het |
| Wiz |
A |
G |
17: 32,576,671 (GRCm39) |
S628P |
probably benign |
Het |
| Xrcc4 |
T |
C |
13: 90,210,196 (GRCm39) |
T83A |
probably benign |
Het |
|
| Other mutations in Ints12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00585:Ints12
|
APN |
3 |
132,806,570 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0243:Ints12
|
UTSW |
3 |
132,814,806 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0847:Ints12
|
UTSW |
3 |
132,814,603 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2118:Ints12
|
UTSW |
3 |
132,814,921 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2323:Ints12
|
UTSW |
3 |
132,815,126 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2324:Ints12
|
UTSW |
3 |
132,815,126 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2384:Ints12
|
UTSW |
3 |
132,814,864 (GRCm39) |
splice site |
probably null |
|
|
R3055:Ints12
|
UTSW |
3 |
132,815,126 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R3919:Ints12
|
UTSW |
3 |
132,806,444 (GRCm39) |
missense |
probably benign |
|
|
R4431:Ints12
|
UTSW |
3 |
132,808,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4594:Ints12
|
UTSW |
3 |
132,814,629 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4598:Ints12
|
UTSW |
3 |
132,804,214 (GRCm39) |
missense |
probably benign |
|
|
R4599:Ints12
|
UTSW |
3 |
132,804,214 (GRCm39) |
missense |
probably benign |
|
|
R4702:Ints12
|
UTSW |
3 |
132,802,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5083:Ints12
|
UTSW |
3 |
132,806,538 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5507:Ints12
|
UTSW |
3 |
132,814,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5894:Ints12
|
UTSW |
3 |
132,804,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6647:Ints12
|
UTSW |
3 |
132,802,639 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8245:Ints12
|
UTSW |
3 |
132,814,633 (GRCm39) |
missense |
probably benign |
|
|
R8887:Ints12
|
UTSW |
3 |
132,815,003 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9779:Ints12
|
UTSW |
3 |
132,812,752 (GRCm39) |
missense |
probably benign |
0.30 |
|
Z1176:Ints12
|
UTSW |
3 |
132,808,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGGGTCTTCCTAGTCCTAG -3'
(R):5'- AAGCTCTTGTCATGCATCAGTC -3'
Sequencing Primer
(F):5'- CCTAGTCCTAGTAGTTTAGTTCCTGG -3'
(R):5'- TGTCATGCATCAGTCATTATAATCAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation