Incidental Mutation 'R2193:Isoc2b'
ID |
238264 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Isoc2b
|
Ensembl Gene |
ENSMUSG00000052605 |
Gene Name |
isochorismatase domain containing 2b |
Synonyms |
0610042E07Rik |
MMRRC Submission |
040195-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.186)
|
Stock # |
R2193 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
4847958-4869178 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4853823 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 117
(H117R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147085
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064547]
[ENSMUST00000208816]
|
AlphaFold |
Q9DCC7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064547
AA Change: H117R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000066859 Gene: ENSMUSG00000052605 AA Change: H117R
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 benign
Transcript: ENSMUST00000208816
AA Change: H117R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp4 |
T |
C |
7: 43,902,993 (GRCm39) |
R289G |
probably benign |
Het |
Bfar |
A |
G |
16: 13,515,335 (GRCm39) |
N183D |
probably benign |
Het |
Cdca3 |
A |
G |
6: 124,808,409 (GRCm39) |
T69A |
probably damaging |
Het |
Ces1b |
A |
T |
8: 93,806,505 (GRCm39) |
C14S |
probably benign |
Het |
Clcn3 |
T |
A |
8: 61,382,221 (GRCm39) |
I456F |
possibly damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dcpp2 |
A |
C |
17: 24,119,393 (GRCm39) |
D69A |
probably damaging |
Het |
Dlgap2 |
T |
A |
8: 14,793,431 (GRCm39) |
I475N |
possibly damaging |
Het |
Dnah6 |
T |
A |
6: 73,115,623 (GRCm39) |
M1592L |
probably damaging |
Het |
Dscaml1 |
A |
G |
9: 45,596,532 (GRCm39) |
Q792R |
probably benign |
Het |
Eif2ak4 |
A |
G |
2: 118,252,747 (GRCm39) |
I440V |
probably benign |
Het |
Frrs1 |
T |
C |
3: 116,671,994 (GRCm39) |
S31P |
probably damaging |
Het |
Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
Klf5 |
C |
T |
14: 99,536,406 (GRCm39) |
|
probably benign |
Het |
Ltn1 |
G |
A |
16: 87,224,535 (GRCm39) |
S63F |
probably damaging |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Oas1f |
A |
C |
5: 120,989,648 (GRCm39) |
T196P |
probably damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Ocln |
T |
C |
13: 100,676,412 (GRCm39) |
D27G |
probably damaging |
Het |
Or2av9 |
A |
T |
11: 58,380,732 (GRCm39) |
M283K |
probably damaging |
Het |
Or2y17 |
A |
G |
11: 49,231,770 (GRCm39) |
H137R |
possibly damaging |
Het |
Rasgrf2 |
A |
C |
13: 92,160,221 (GRCm39) |
|
probably null |
Het |
Sars2 |
G |
T |
7: 28,448,422 (GRCm39) |
V268L |
probably damaging |
Het |
Sin3a |
T |
A |
9: 57,024,761 (GRCm39) |
S1040R |
possibly damaging |
Het |
Vps9d1 |
A |
T |
8: 123,979,404 (GRCm39) |
Y39N |
probably damaging |
Het |
|
Other mutations in Isoc2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01518:Isoc2b
|
APN |
7 |
4,853,763 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTTCAACACTGCTGCAATGG -3'
(R):5'- AGGGCTATCTAATCTTCCTGCC -3'
Sequencing Primer
(F):5'- GTTGCTTTGGTCTGTAGTCTATCCC -3'
(R):5'- GCTATCTAATCTTCCTGCCCTCCC -3'
|
Posted On |
2014-10-02 |