Incidental Mutation 'R5757:Ints13'
| ID |
445100 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints13
|
| Ensembl Gene |
ENSMUSG00000040250 |
| Gene Name |
integrator complex subunit 13 |
| Synonyms |
4933424B01Rik, Asun, Spata30 |
| MMRRC Submission |
043360-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R5757 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
146451130-146479333 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 146451604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 714
(R714C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032427]
[ENSMUST00000203545]
|
| AlphaFold |
Q8QZV7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032427
AA Change: R714C
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000032427
Gene: ENSMUSG00000040250
AA Change: R714C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2151
|
4 |
692 |
8.2e-292 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131662
|
| SMART Domains |
Protein: ENSMUSP00000118000
Gene: ENSMUSG00000040250
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2151
|
1 |
394 |
7.2e-171 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132963
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135277
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139546
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139979
|
| SMART Domains |
Protein: ENSMUSP00000122279
Gene: ENSMUSG00000040250
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2151
|
2 |
216 |
1.6e-61 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152994
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204234
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203545
|
| SMART Domains |
Protein: ENSMUSP00000145229
Gene: ENSMUSG00000040250
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2151
|
1 |
96 |
3.8e-48 |
PFAM |
|
Pfam:DUF2151
|
94 |
313 |
6e-59 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
C |
T |
11: 109,933,794 (GRCm39) |
A1204T |
probably benign |
Het |
| Adcy5 |
G |
T |
16: 35,092,451 (GRCm39) |
R604L |
probably damaging |
Het |
| Ago4 |
A |
T |
4: 126,419,877 (GRCm39) |
N33K |
probably damaging |
Het |
| Arid5b |
T |
C |
10: 67,937,909 (GRCm39) |
Y406C |
probably damaging |
Het |
| Asgr1 |
A |
C |
11: 69,945,778 (GRCm39) |
H18P |
probably benign |
Het |
| Asph |
A |
C |
4: 9,637,722 (GRCm39) |
|
probably null |
Het |
| Brd4 |
G |
A |
17: 32,420,272 (GRCm39) |
|
probably benign |
Het |
| Ccdc150 |
T |
A |
1: 54,302,779 (GRCm39) |
I133N |
probably damaging |
Het |
| Cdon |
A |
C |
9: 35,364,068 (GRCm39) |
H62P |
probably damaging |
Het |
| Clec4b1 |
T |
A |
6: 123,046,713 (GRCm39) |
Y157* |
probably null |
Het |
| Clip1 |
G |
A |
5: 123,765,460 (GRCm39) |
T810I |
probably benign |
Het |
| Crocc |
A |
T |
4: 140,770,875 (GRCm39) |
L184Q |
probably damaging |
Het |
| Fat2 |
C |
T |
11: 55,143,172 (GRCm39) |
G4226R |
probably damaging |
Het |
| Fbxo30 |
T |
A |
10: 11,166,165 (GRCm39) |
C296S |
probably benign |
Het |
| Fndc3a |
T |
C |
14: 72,794,025 (GRCm39) |
K883E |
probably benign |
Het |
| Glyr1 |
A |
T |
16: 4,836,856 (GRCm39) |
M436K |
probably benign |
Het |
| Gm525 |
A |
T |
11: 88,965,872 (GRCm39) |
Q38L |
probably benign |
Het |
| Gnas |
T |
A |
2: 174,187,040 (GRCm39) |
V941D |
probably damaging |
Het |
| Hectd4 |
G |
C |
5: 121,486,682 (GRCm39) |
E3226Q |
possibly damaging |
Het |
| Kif12 |
A |
T |
4: 63,088,755 (GRCm39) |
W182R |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,835,548 (GRCm39) |
L1272P |
probably damaging |
Het |
| Klhl14 |
A |
C |
18: 21,687,791 (GRCm39) |
Y544D |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,945,372 (GRCm39) |
|
probably null |
Het |
| Lama1 |
G |
A |
17: 68,045,782 (GRCm39) |
R229Q |
possibly damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,580,944 (GRCm39) |
|
probably null |
Het |
| Map4k5 |
A |
T |
12: 69,871,429 (GRCm39) |
C498S |
probably damaging |
Het |
| Myh9 |
A |
T |
15: 77,655,362 (GRCm39) |
V1198E |
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,253,528 (GRCm39) |
D950G |
probably damaging |
Het |
| Obsl1 |
G |
T |
1: 75,469,699 (GRCm39) |
A1106D |
probably damaging |
Het |
| Or5m9 |
T |
A |
2: 85,876,910 (GRCm39) |
V28E |
possibly damaging |
Het |
| Or8k27 |
T |
C |
2: 86,275,922 (GRCm39) |
I135V |
probably benign |
Het |
| Otog |
T |
A |
7: 45,890,545 (GRCm39) |
|
probably null |
Het |
| Oxtr |
A |
T |
6: 112,454,222 (GRCm39) |
I14N |
probably damaging |
Het |
| Pfkfb3 |
A |
T |
2: 11,485,141 (GRCm39) |
S490R |
probably damaging |
Het |
| Polk |
A |
C |
13: 96,620,760 (GRCm39) |
M560R |
probably benign |
Het |
| Polq |
C |
T |
16: 36,907,043 (GRCm39) |
H2335Y |
probably benign |
Het |
| Prr14 |
T |
A |
7: 127,074,725 (GRCm39) |
V419D |
possibly damaging |
Het |
| Rflnb |
A |
G |
11: 75,912,992 (GRCm39) |
V132A |
probably damaging |
Het |
| Rxfp1 |
T |
G |
3: 79,568,627 (GRCm39) |
I283L |
possibly damaging |
Het |
| Ryr3 |
G |
A |
2: 112,672,320 (GRCm39) |
R1384C |
probably damaging |
Het |
| Scnn1g |
T |
A |
7: 121,337,438 (GRCm39) |
C100S |
probably damaging |
Het |
| Sfrp2 |
G |
C |
3: 83,673,933 (GRCm39) |
G29R |
possibly damaging |
Het |
| Spop |
A |
G |
11: 95,381,208 (GRCm39) |
H312R |
probably damaging |
Het |
| Tpx2 |
A |
G |
2: 152,727,151 (GRCm39) |
|
probably null |
Het |
| Wdr4 |
A |
T |
17: 31,718,063 (GRCm39) |
V337E |
probably damaging |
Het |
| Zbtb11 |
A |
G |
16: 55,827,392 (GRCm39) |
N953D |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
|
| Other mutations in Ints13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00566:Ints13
|
APN |
6 |
146,467,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02085:Ints13
|
APN |
6 |
146,451,437 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02439:Ints13
|
APN |
6 |
146,455,721 (GRCm39) |
splice site |
probably benign |
|
|
IGL02512:Ints13
|
APN |
6 |
146,477,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02523:Ints13
|
APN |
6 |
146,459,109 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02988:Ints13
|
APN |
6 |
146,457,646 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0083:Ints13
|
UTSW |
6 |
146,452,162 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0085:Ints13
|
UTSW |
6 |
146,476,285 (GRCm39) |
splice site |
probably benign |
|
|
R0184:Ints13
|
UTSW |
6 |
146,456,542 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0656:Ints13
|
UTSW |
6 |
146,453,959 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1808:Ints13
|
UTSW |
6 |
146,455,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1838:Ints13
|
UTSW |
6 |
146,468,109 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1906:Ints13
|
UTSW |
6 |
146,453,868 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2140:Ints13
|
UTSW |
6 |
146,477,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3082:Ints13
|
UTSW |
6 |
146,476,205 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5568:Ints13
|
UTSW |
6 |
146,477,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5770:Ints13
|
UTSW |
6 |
146,456,571 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5809:Ints13
|
UTSW |
6 |
146,477,847 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6273:Ints13
|
UTSW |
6 |
146,467,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6882:Ints13
|
UTSW |
6 |
146,464,939 (GRCm39) |
missense |
probably null |
0.18 |
|
R6908:Ints13
|
UTSW |
6 |
146,456,531 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7089:Ints13
|
UTSW |
6 |
146,476,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7425:Ints13
|
UTSW |
6 |
146,476,198 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7660:Ints13
|
UTSW |
6 |
146,458,836 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7957:Ints13
|
UTSW |
6 |
146,452,264 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8529:Ints13
|
UTSW |
6 |
146,464,926 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8847:Ints13
|
UTSW |
6 |
146,457,631 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9368:Ints13
|
UTSW |
6 |
146,467,129 (GRCm39) |
missense |
probably null |
0.99 |
|
R9703:Ints13
|
UTSW |
6 |
146,459,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9777:Ints13
|
UTSW |
6 |
146,463,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF011:Ints13
|
UTSW |
6 |
146,457,738 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTCACTCTTCACTGGCGG -3'
(R):5'- TCACAAAGGCCCAGTTTATTGATTG -3'
Sequencing Primer
(F):5'- ACTGGCGGCTGGCTTTC -3'
(R):5'- CTTTGACTAAATGGAGGAGACTTCC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation