Incidental Mutation 'R2323:Ints12'
| ID |
244796 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints12
|
| Ensembl Gene |
ENSMUSG00000028016 |
| Gene Name |
integrator complex subunit 12 |
| Synonyms |
Phf22, 4930529N21Rik, 1110020M19Rik, A230056J18Rik, 2810027J24Rik |
| MMRRC Submission |
040314-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2323 (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: 97.4%
- 20x: 95.3%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
G |
T |
2: 25,335,187 (GRCm39) |
M2008I |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,743,298 (GRCm39) |
S68P |
probably damaging |
Het |
| Albfm1 |
T |
A |
5: 90,732,711 (GRCm39) |
Y507* |
probably null |
Het |
| Anks3 |
T |
C |
16: 4,768,634 (GRCm39) |
|
probably null |
Het |
| Asap2 |
T |
C |
12: 21,253,969 (GRCm39) |
I160T |
probably damaging |
Het |
| Asb15 |
T |
A |
6: 24,556,600 (GRCm39) |
F32I |
probably benign |
Het |
| Catip |
A |
T |
1: 74,402,437 (GRCm39) |
M103L |
probably benign |
Het |
| Cela2a |
G |
C |
4: 141,553,390 (GRCm39) |
|
probably benign |
Het |
| Crebrf |
T |
C |
17: 26,982,581 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
T |
C |
5: 124,819,064 (GRCm39) |
M450T |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,267,518 (GRCm39) |
S5165P |
possibly damaging |
Het |
| Esrp2 |
T |
A |
8: 106,860,934 (GRCm39) |
D196V |
probably benign |
Het |
| Hmox2 |
A |
T |
16: 4,583,720 (GRCm39) |
K263* |
probably null |
Het |
| Ints10 |
A |
G |
8: 69,271,997 (GRCm39) |
H566R |
probably benign |
Het |
| Liph |
A |
G |
16: 21,802,754 (GRCm39) |
V105A |
probably damaging |
Het |
| Myo1e |
T |
A |
9: 70,286,040 (GRCm39) |
Y941* |
probably null |
Het |
| Myo7b |
T |
C |
18: 32,104,398 (GRCm39) |
E1450G |
probably damaging |
Het |
| Myt1 |
G |
T |
2: 181,448,350 (GRCm39) |
A594S |
probably damaging |
Het |
| Npas3 |
T |
A |
12: 54,115,129 (GRCm39) |
Y666N |
probably damaging |
Het |
| Npsr1 |
A |
G |
9: 24,211,732 (GRCm39) |
K240E |
probably damaging |
Het |
| Or52h7 |
T |
C |
7: 104,213,826 (GRCm39) |
F133L |
probably benign |
Het |
| Rtkn2 |
A |
G |
10: 67,837,764 (GRCm39) |
I102M |
probably damaging |
Het |
| Rundc1 |
T |
C |
11: 101,316,101 (GRCm39) |
F58L |
probably damaging |
Het |
| Snrpc |
T |
G |
17: 28,066,948 (GRCm39) |
M91R |
unknown |
Het |
| Tgfbr2 |
T |
C |
9: 115,939,212 (GRCm39) |
K205R |
possibly damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tnfrsf21 |
C |
A |
17: 43,396,420 (GRCm39) |
S568* |
probably null |
Het |
| Tulp1 |
C |
T |
17: 28,581,456 (GRCm39) |
G239D |
probably damaging |
Het |
| Vmn1r234 |
T |
C |
17: 21,449,965 (GRCm39) |
I293T |
probably benign |
Het |
| Vmn1r26 |
T |
C |
6: 57,985,842 (GRCm39) |
K116E |
probably damaging |
Het |
| Vmn2r98 |
T |
A |
17: 19,286,081 (GRCm39) |
I193K |
probably benign |
Het |
| Wnk4 |
T |
A |
11: 101,159,307 (GRCm39) |
S575T |
probably damaging |
Het |
| Zfp558 |
A |
T |
9: 18,380,573 (GRCm39) |
|
probably null |
Het |
| Zscan18 |
T |
C |
7: 12,509,386 (GRCm39) |
|
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 |
|
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 |
|
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'- CAAAGTGGGTCTTCCTAGTCCTAG -3'
(R):5'- TGAAGCTCTTGTCATGCATCAG -3'
Sequencing Primer
(F):5'- CCTAGTCCTAGTAGTTTAGTTCCTGG -3'
(R):5'- TGTCATGCATCAGTCATTATAATCAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation