Incidental Mutation 'R0847:Ints12'
| ID |
76999 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints12
|
| Ensembl Gene |
ENSMUSG00000028016 |
| Gene Name |
integrator complex subunit 12 |
| Synonyms |
Phf22, 4930529N21Rik, 1110020M19Rik, A230056J18Rik, 2810027J24Rik |
| MMRRC Submission |
039026-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0847 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
132797616-132816749 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 132814603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 270
(T270M)
|
| 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: T270M
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000029650
Gene: ENSMUSG00000028016
AA Change: T270M
| 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
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.2%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
C |
5: 8,895,764 (GRCm39) |
I899T |
probably damaging |
Het |
| Ahnak |
C |
T |
19: 8,983,797 (GRCm39) |
Q1694* |
probably null |
Het |
| Cblc |
A |
T |
7: 19,524,459 (GRCm39) |
Y260* |
probably null |
Het |
| Ccn4 |
T |
G |
15: 66,791,124 (GRCm39) |
C309G |
probably damaging |
Het |
| Ceacam5 |
A |
G |
7: 17,491,762 (GRCm39) |
T711A |
possibly damaging |
Het |
| Cep63 |
A |
G |
9: 102,465,957 (GRCm39) |
S690P |
probably benign |
Het |
| Chia1 |
A |
T |
3: 106,039,253 (GRCm39) |
I448F |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,313,112 (GRCm39) |
F1712I |
probably damaging |
Het |
| Ecpas |
G |
A |
4: 58,841,439 (GRCm39) |
T645I |
probably benign |
Het |
| Exosc3 |
A |
G |
4: 45,319,695 (GRCm39) |
V109A |
probably damaging |
Het |
| Fxyd7 |
A |
G |
7: 30,744,029 (GRCm39) |
C60R |
probably damaging |
Het |
| Gm17349 |
C |
A |
15: 99,600,289 (GRCm39) |
|
probably benign |
Het |
| Gpn2 |
A |
G |
4: 133,315,906 (GRCm39) |
N199D |
probably benign |
Het |
| Kdm4a |
C |
T |
4: 118,021,695 (GRCm39) |
E266K |
probably damaging |
Het |
| Kremen2 |
G |
T |
17: 23,963,634 (GRCm39) |
T50N |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,293,159 (GRCm39) |
D1249E |
probably benign |
Het |
| Mdga2 |
T |
A |
12: 66,769,854 (GRCm39) |
K146N |
probably damaging |
Het |
| Med20 |
G |
A |
17: 47,922,618 (GRCm39) |
|
probably null |
Het |
| Myo18b |
T |
C |
5: 113,022,354 (GRCm39) |
|
probably benign |
Het |
| Nav3 |
T |
A |
10: 109,739,718 (GRCm39) |
T84S |
possibly damaging |
Het |
| Olfm2 |
A |
G |
9: 20,579,953 (GRCm39) |
V266A |
probably damaging |
Het |
| Or5b101 |
A |
T |
19: 13,005,095 (GRCm39) |
Y199* |
probably null |
Het |
| Or5b123 |
C |
T |
19: 13,596,915 (GRCm39) |
H87Y |
probably benign |
Het |
| Or6c69b |
T |
A |
10: 129,627,327 (GRCm39) |
I44F |
probably damaging |
Het |
| Pthlh |
A |
T |
6: 147,164,766 (GRCm39) |
|
probably null |
Het |
| Rpap3 |
C |
T |
15: 97,601,082 (GRCm39) |
|
probably null |
Het |
| Rprd2 |
A |
G |
3: 95,672,725 (GRCm39) |
S893P |
probably benign |
Het |
| Sacm1l |
G |
A |
9: 123,377,927 (GRCm39) |
G69D |
probably damaging |
Het |
| Slc27a4 |
T |
C |
2: 29,701,261 (GRCm39) |
S351P |
probably benign |
Het |
| Sobp |
C |
G |
10: 42,898,415 (GRCm39) |
R390P |
probably damaging |
Het |
| Spata7 |
T |
A |
12: 98,614,689 (GRCm39) |
M107K |
possibly damaging |
Het |
| Sri |
G |
A |
5: 8,113,755 (GRCm39) |
|
probably null |
Het |
| Stab2 |
T |
C |
10: 86,805,735 (GRCm39) |
I204V |
probably benign |
Het |
| Synm |
T |
C |
7: 67,384,804 (GRCm39) |
I511V |
probably damaging |
Het |
| Tbr1 |
T |
C |
2: 61,635,373 (GRCm39) |
S108P |
probably benign |
Het |
| Tln1 |
A |
G |
4: 43,555,333 (GRCm39) |
F197S |
probably damaging |
Het |
| Tmem167b |
C |
T |
3: 108,467,537 (GRCm39) |
G46R |
probably benign |
Het |
| Tmprss11g |
T |
C |
5: 86,638,585 (GRCm39) |
K301R |
probably benign |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,765,122 (GRCm39) |
V960M |
possibly damaging |
Het |
| Ube3a |
G |
A |
7: 58,926,334 (GRCm39) |
D371N |
possibly damaging |
Het |
| Vmn2r57 |
A |
T |
7: 41,078,225 (GRCm39) |
F78I |
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 |
|
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 |
|
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'- GCAGTCTCCCTGACTACAGAAACG -3'
(R):5'- TGTTGCCAGACCAGTCAAACCC -3'
Sequencing Primer
(F):5'- AAACGCCCATGTGTTTCCC -3'
(R):5'- TCAAACCCACAGGCTTCTGG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation