Incidental Mutation 'R2324:Ints12'
| ID |
244835 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints12
|
| Ensembl Gene |
ENSMUSG00000028016 |
| Gene Name |
integrator complex subunit 12 |
| Synonyms |
Phf22, 4930529N21Rik, 1110020M19Rik, A230056J18Rik, 2810027J24Rik |
| MMRRC Submission |
040315-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2324 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (33/33) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akna |
T |
C |
4: 63,290,039 (GRCm39) |
D1223G |
possibly damaging |
Het |
| Ankrd42 |
C |
A |
7: 92,273,186 (GRCm39) |
R147L |
probably damaging |
Het |
| Cdhr18 |
A |
T |
14: 13,868,077 (GRCm38) |
I204N |
probably damaging |
Het |
| Cep152 |
T |
C |
2: 125,405,382 (GRCm39) |
I1717V |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,512,041 (GRCm39) |
|
probably null |
Het |
| Coa8 |
A |
G |
12: 111,690,784 (GRCm39) |
E112G |
possibly damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,359,297 (GRCm39) |
H3544L |
probably damaging |
Het |
| Dpy19l4 |
T |
C |
4: 11,276,857 (GRCm39) |
|
probably benign |
Het |
| Efcab8 |
A |
G |
2: 153,625,729 (GRCm39) |
|
probably null |
Het |
| Esyt2 |
A |
G |
12: 116,331,441 (GRCm39) |
N773S |
possibly damaging |
Het |
| Hectd4 |
G |
A |
5: 121,453,500 (GRCm39) |
G613D |
probably damaging |
Het |
| Ints3 |
A |
G |
3: 90,301,401 (GRCm39) |
L827P |
probably damaging |
Het |
| Irf9 |
T |
C |
14: 55,843,367 (GRCm39) |
|
probably null |
Het |
| Lactb2 |
T |
C |
1: 13,708,520 (GRCm39) |
D176G |
probably damaging |
Het |
| Lmntd2 |
A |
T |
7: 140,790,701 (GRCm39) |
S516T |
possibly damaging |
Het |
| Lrp1 |
C |
A |
10: 127,402,455 (GRCm39) |
A2239S |
possibly damaging |
Het |
| Lrrc56 |
A |
G |
7: 140,785,476 (GRCm39) |
|
probably benign |
Het |
| Nfic |
A |
G |
10: 81,241,921 (GRCm39) |
|
probably null |
Het |
| Notch3 |
G |
A |
17: 32,369,108 (GRCm39) |
|
probably benign |
Het |
| Oas2 |
T |
C |
5: 120,881,339 (GRCm39) |
K251E |
probably benign |
Het |
| Or5k15 |
T |
C |
16: 58,710,503 (GRCm39) |
T27A |
probably benign |
Het |
| Pabpc4 |
T |
C |
4: 123,191,571 (GRCm39) |
|
probably benign |
Het |
| Piwil4 |
C |
T |
9: 14,648,204 (GRCm39) |
R125H |
possibly damaging |
Het |
| Rbsn |
A |
G |
6: 92,170,947 (GRCm39) |
Y325H |
probably damaging |
Het |
| Rhox2e |
C |
A |
X: 36,712,516 (GRCm39) |
P69Q |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,729,654 (GRCm39) |
|
probably null |
Het |
| Tmem165 |
T |
C |
5: 76,352,671 (GRCm39) |
|
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Ttc13 |
A |
G |
8: 125,405,796 (GRCm39) |
V499A |
probably damaging |
Het |
| Vax2 |
G |
T |
6: 83,688,307 (GRCm39) |
R10L |
possibly damaging |
Het |
| Zfp988 |
A |
C |
4: 147,417,242 (GRCm39) |
K559Q |
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 |
|
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 |
|
R3056: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'- AGTGGGTCTTCCTAGTCCTAGTAG -3'
(R):5'- GAAGCTCTTGTCATGCATCAGTC -3'
Sequencing Primer
(F):5'- AGTTTAGTTCCTGGAGGCAGCAG -3'
(R):5'- TGTCATGCATCAGTCATTATAATCAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation