Incidental Mutation 'IGL01518:Isoc2b'
| ID |
89370 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Isoc2b
|
| Ensembl Gene |
ENSMUSG00000052605 |
| Gene Name |
isochorismatase domain containing 2b |
| Synonyms |
0610042E07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.186)
|
| Stock # |
IGL01518
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
4847958-4869178 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4853763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 137
(S137F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147085
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064547]
[ENSMUST00000208816]
|
| AlphaFold |
Q9DCC7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064547
AA Change: S137F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000066859
Gene: ENSMUSG00000052605
AA Change: S137F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Isochorismatase
|
16 |
163 |
2.3e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207502
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207699
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208173
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208816
AA Change: S137F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447F04Rik |
A |
C |
X: 65,347,660 (GRCm39) |
V16G |
unknown |
Het |
| 4933427I04Rik |
A |
T |
4: 123,754,494 (GRCm39) |
E136V |
probably benign |
Het |
| Aadac |
A |
G |
3: 59,943,320 (GRCm39) |
D75G |
probably damaging |
Het |
| Arfgap1 |
T |
A |
2: 180,614,518 (GRCm39) |
S125T |
probably benign |
Het |
| Atxn2 |
G |
T |
5: 121,949,042 (GRCm39) |
A813S |
probably damaging |
Het |
| Cadps |
C |
A |
14: 12,522,352 (GRCm38) |
S604I |
probably damaging |
Het |
| Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
| Col4a4 |
T |
A |
1: 82,433,480 (GRCm39) |
M1488L |
unknown |
Het |
| Fndc3c1 |
T |
C |
X: 105,475,029 (GRCm39) |
N941S |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,244,305 (GRCm39) |
Y1172C |
possibly damaging |
Het |
| Gm1527 |
T |
C |
3: 28,949,737 (GRCm39) |
|
probably benign |
Het |
| Hsf2 |
T |
C |
10: 57,388,230 (GRCm39) |
L458P |
probably damaging |
Het |
| Il2 |
T |
C |
3: 37,177,156 (GRCm39) |
T127A |
possibly damaging |
Het |
| Inpp5e |
A |
G |
2: 26,287,946 (GRCm39) |
Y617H |
probably damaging |
Het |
| Map2 |
C |
T |
1: 66,464,490 (GRCm39) |
P241S |
probably damaging |
Het |
| Mfsd6 |
C |
A |
1: 52,748,481 (GRCm39) |
R128L |
probably damaging |
Het |
| Mrnip |
A |
G |
11: 50,088,462 (GRCm39) |
T153A |
probably damaging |
Het |
| Or4x6 |
A |
G |
2: 89,949,315 (GRCm39) |
F209S |
possibly damaging |
Het |
| Or8d1 |
A |
T |
9: 38,767,095 (GRCm39) |
M246L |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,098,599 (GRCm39) |
N2022S |
probably benign |
Het |
| Scrt2 |
C |
A |
2: 151,935,560 (GRCm39) |
R238S |
probably damaging |
Het |
| St3gal6 |
T |
A |
16: 58,305,138 (GRCm39) |
D108V |
probably benign |
Het |
| Tmem132b |
C |
T |
5: 125,855,855 (GRCm39) |
T529M |
probably damaging |
Het |
| Trappc11 |
T |
C |
8: 47,954,904 (GRCm39) |
|
probably null |
Het |
| Tspyl1 |
T |
A |
10: 34,159,195 (GRCm39) |
S307T |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,131,982 (GRCm39) |
S735G |
probably benign |
Het |
| Wnk2 |
T |
C |
13: 49,221,668 (GRCm39) |
M1186V |
possibly damaging |
Het |
|
| Other mutations in Isoc2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R2112:Isoc2b
|
UTSW |
7 |
4,852,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2130:Isoc2b
|
UTSW |
7 |
4,854,438 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2193:Isoc2b
|
UTSW |
7 |
4,853,823 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4411:Isoc2b
|
UTSW |
7 |
4,852,433 (GRCm39) |
intron |
probably benign |
|
|
R5355:Isoc2b
|
UTSW |
7 |
4,852,357 (GRCm39) |
intron |
probably benign |
|
|
R5497:Isoc2b
|
UTSW |
7 |
4,853,782 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5831:Isoc2b
|
UTSW |
7 |
4,854,023 (GRCm39) |
missense |
probably null |
0.38 |
|
R5907:Isoc2b
|
UTSW |
7 |
4,852,577 (GRCm39) |
splice site |
probably null |
|
|
R6542:Isoc2b
|
UTSW |
7 |
4,854,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6766:Isoc2b
|
UTSW |
7 |
4,854,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6891:Isoc2b
|
UTSW |
7 |
4,854,487 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7475:Isoc2b
|
UTSW |
7 |
4,854,084 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-12-03 |
Incidental Mutation