Incidental Mutation 'R0656:Ints13'
ID |
226145 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ints13
|
Ensembl Gene |
ENSMUSG00000040250 |
Gene Name |
integrator complex subunit 13 |
Synonyms |
4933424B01Rik, Asun, Spata30 |
MMRRC Submission |
038841-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.963)
|
Stock # |
R0656 (G1)
|
Quality Score |
55 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
146451130-146479333 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 146453959 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 240
(V240A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145229
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032427]
[ENSMUST00000203545]
|
AlphaFold |
Q8QZV7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032427
AA Change: V619A
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000032427 Gene: ENSMUSG00000040250 AA Change: V619A
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 |
unknown
Transcript: ENSMUST00000139979
AA Change: V142A
|
SMART Domains |
Protein: ENSMUSP00000122279 Gene: ENSMUSG00000040250 AA Change: V142A
Domain | Start | End | E-Value | Type |
Pfam:DUF2151
|
2 |
216 |
1.6e-61 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152994
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203545
AA Change: V240A
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000145229 Gene: ENSMUSG00000040250 AA Change: V240A
Domain | Start | End | E-Value | Type |
Pfam:DUF2151
|
1 |
96 |
3.8e-48 |
PFAM |
Pfam:DUF2151
|
94 |
313 |
6e-59 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204234
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.2%
|
Validation Efficiency |
98% (92/94) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930533K18Rik |
T |
A |
10: 70,704,630 (GRCm39) |
|
noncoding transcript |
Het |
Alox5 |
A |
G |
6: 116,400,291 (GRCm39) |
|
probably benign |
Het |
Anxa11 |
T |
A |
14: 25,874,421 (GRCm39) |
D203E |
probably damaging |
Het |
Atp12a |
A |
T |
14: 56,611,938 (GRCm39) |
N371Y |
probably damaging |
Het |
Bloc1s6 |
A |
G |
2: 122,584,543 (GRCm39) |
I39M |
probably benign |
Het |
Celsr3 |
A |
C |
9: 108,711,854 (GRCm39) |
I1688L |
possibly damaging |
Het |
Cgn |
T |
C |
3: 94,682,204 (GRCm39) |
|
probably benign |
Het |
Chd4 |
A |
T |
6: 125,079,930 (GRCm39) |
I453F |
probably damaging |
Het |
Dbnl |
A |
G |
11: 5,747,321 (GRCm39) |
T247A |
probably benign |
Het |
Dpysl3 |
T |
C |
18: 43,571,136 (GRCm39) |
E46G |
possibly damaging |
Het |
Dsg1a |
T |
C |
18: 20,468,949 (GRCm39) |
|
probably benign |
Het |
Fbp1 |
C |
T |
13: 63,019,099 (GRCm39) |
E150K |
probably benign |
Het |
Flnb |
T |
A |
14: 7,927,352 (GRCm38) |
L1854Q |
probably damaging |
Het |
Gcn1 |
C |
T |
5: 115,727,362 (GRCm39) |
T714M |
probably benign |
Het |
Gm12216 |
A |
T |
11: 53,704,162 (GRCm39) |
|
probably benign |
Het |
Gpr82 |
T |
C |
X: 13,531,829 (GRCm39) |
S126P |
probably benign |
Het |
Hmbs |
T |
A |
9: 44,248,657 (GRCm39) |
H256L |
probably benign |
Het |
Ibsp |
A |
T |
5: 104,457,886 (GRCm39) |
|
probably null |
Het |
Iqca1l |
C |
T |
5: 24,754,760 (GRCm39) |
V337M |
possibly damaging |
Het |
Kalrn |
T |
C |
16: 33,852,837 (GRCm39) |
D343G |
probably damaging |
Het |
Kin |
T |
C |
2: 10,090,531 (GRCm39) |
|
probably benign |
Het |
Klhdc1 |
T |
C |
12: 69,304,804 (GRCm39) |
V192A |
probably benign |
Het |
Lpar3 |
T |
A |
3: 145,946,426 (GRCm39) |
C35S |
possibly damaging |
Het |
Lrrtm4 |
A |
G |
6: 79,998,953 (GRCm39) |
I122V |
possibly damaging |
Het |
Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
Mgat4c |
T |
C |
10: 102,224,452 (GRCm39) |
M222T |
probably damaging |
Het |
Muc4 |
C |
A |
16: 32,570,488 (GRCm39) |
S516Y |
possibly damaging |
Het |
Myo1e |
A |
T |
9: 70,274,956 (GRCm39) |
Q703L |
probably damaging |
Het |
Neb |
A |
G |
2: 52,115,570 (GRCm39) |
|
probably benign |
Het |
Necab3 |
T |
G |
2: 154,388,223 (GRCm39) |
E239A |
probably null |
Het |
Npr1 |
G |
T |
3: 90,368,676 (GRCm39) |
N461K |
probably benign |
Het |
Or4k44 |
T |
C |
2: 111,367,972 (GRCm39) |
I221V |
probably damaging |
Het |
Pcdhb2 |
A |
G |
18: 37,428,543 (GRCm39) |
Y172C |
probably damaging |
Het |
Pcdhb7 |
A |
G |
18: 37,474,954 (GRCm39) |
D30G |
probably benign |
Het |
Phf12 |
A |
C |
11: 77,920,158 (GRCm39) |
Q898P |
probably benign |
Het |
Plekhn1 |
T |
C |
4: 156,309,821 (GRCm39) |
E132G |
possibly damaging |
Het |
Ptpn3 |
A |
G |
4: 57,270,075 (GRCm39) |
V29A |
probably benign |
Het |
Rundc3b |
T |
A |
5: 8,619,529 (GRCm39) |
I143F |
probably damaging |
Het |
Ryr3 |
T |
G |
2: 112,478,651 (GRCm39) |
|
probably benign |
Het |
Sash1 |
A |
G |
10: 8,626,901 (GRCm39) |
|
probably null |
Het |
Slc4a2 |
A |
G |
5: 24,636,257 (GRCm39) |
D201G |
probably benign |
Het |
Tecpr1 |
T |
A |
5: 144,150,871 (GRCm39) |
|
probably null |
Het |
Timm21 |
T |
C |
18: 84,967,326 (GRCm39) |
H150R |
probably damaging |
Het |
Tmem79 |
T |
C |
3: 88,240,241 (GRCm39) |
T236A |
probably damaging |
Het |
Usp34 |
G |
T |
11: 23,422,967 (GRCm39) |
V3095F |
probably damaging |
Het |
Vmn1r8 |
A |
T |
6: 57,013,573 (GRCm39) |
Q208L |
probably benign |
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 |
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 |
R5757:Ints13
|
UTSW |
6 |
146,451,604 (GRCm39) |
missense |
probably benign |
0.01 |
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'- ACACTGCCCAGAAACATGTGCTTAG -3'
(R):5'- GAGAGCATACCTTGTCACACAGACC -3'
Sequencing Primer
(F):5'- ATCCGTTTCAACAAGGGGCT -3'
(R):5'- GGACTAATTCCTGAACTGTTACTAC -3'
|
Posted On |
2014-09-17 |