Incidental Mutation 'IGL00654:Sumf2'
| ID |
14301 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sumf2
|
| Ensembl Gene |
ENSMUSG00000025538 |
| Gene Name |
sulfatase modifying factor 2 |
| Synonyms |
2610040F05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
IGL00654
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
129875807-129892275 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to T
at 129882918 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144230
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000137357]
[ENSMUST00000171300]
[ENSMUST00000201874]
|
| AlphaFold |
Q8BPG6 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122826
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137357
|
| SMART Domains |
Protein: ENSMUSP00000144155
Gene: ENSMUSG00000025538
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:FGE-sulfatase
|
25 |
136 |
6.2e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153063
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171300
|
| SMART Domains |
Protein: ENSMUSP00000126036
Gene: ENSMUSG00000025538
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:FGE-sulfatase
|
34 |
299 |
3.9e-88 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201029
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201874
|
| SMART Domains |
Protein: ENSMUSP00000144230
Gene: ENSMUSG00000025538
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:FGE-sulfatase
|
29 |
135 |
3.5e-22 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The catalytic sites of sulfatases are only active if they contain a unique amino acid, C-alpha-formylglycine (FGly). The FGly residue is posttranslationally generated from a cysteine by enzymes with FGly-generating activity. The gene described in this record is a member of the sulfatase-modifying factor family and encodes a protein with a DUF323 domain that localizes to the lumen of the endoplasmic reticulum. This protein has low levels of FGly-generating activity but can heterodimerize with another family member - a protein with high levels of FGly-generating activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam28 |
T |
C |
14: 68,886,877 (GRCm39) |
T46A |
probably benign |
Het |
| Cmya5 |
G |
A |
13: 93,230,669 (GRCm39) |
S1473L |
probably benign |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Dcbld1 |
A |
C |
10: 52,188,945 (GRCm39) |
I186L |
probably benign |
Het |
| Dgkh |
A |
C |
14: 78,847,033 (GRCm39) |
M367R |
possibly damaging |
Het |
| Myb |
T |
C |
10: 21,017,725 (GRCm39) |
D622G |
probably damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,234,170 (GRCm39) |
|
probably benign |
Het |
| Nlrp14 |
G |
T |
7: 106,795,351 (GRCm39) |
L211F |
probably damaging |
Het |
| Pbrm1 |
T |
A |
14: 30,754,361 (GRCm39) |
|
probably benign |
Het |
| Pcdhb13 |
A |
T |
18: 37,576,774 (GRCm39) |
D384V |
possibly damaging |
Het |
| Ppl |
T |
C |
16: 4,905,172 (GRCm39) |
I1708V |
possibly damaging |
Het |
| Prdx1 |
G |
A |
4: 116,550,162 (GRCm39) |
D115N |
probably benign |
Het |
| Prdx1 |
C |
T |
4: 116,550,147 (GRCm39) |
R110C |
probably benign |
Het |
| Prep |
C |
T |
10: 44,991,269 (GRCm39) |
R312W |
probably damaging |
Het |
| Rpap2 |
A |
T |
5: 107,751,497 (GRCm39) |
|
probably benign |
Het |
| Rubcn |
A |
T |
16: 32,644,747 (GRCm39) |
|
probably null |
Het |
| Tek |
A |
G |
4: 94,715,538 (GRCm39) |
T359A |
probably benign |
Het |
| Thrap3 |
C |
T |
4: 126,059,371 (GRCm39) |
G892S |
probably benign |
Het |
| Tlr12 |
C |
T |
4: 128,511,233 (GRCm39) |
G339E |
probably benign |
Het |
| Usp39 |
A |
G |
6: 72,305,607 (GRCm39) |
L392P |
probably damaging |
Het |
| Wbp2nl |
T |
C |
15: 82,198,411 (GRCm39) |
V316A |
probably benign |
Het |
|
| Other mutations in Sumf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01285:Sumf2
|
APN |
5 |
129,878,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02247:Sumf2
|
APN |
5 |
129,888,986 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02348:Sumf2
|
APN |
5 |
129,888,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03074:Sumf2
|
APN |
5 |
129,888,674 (GRCm39) |
splice site |
probably benign |
|
|
R0105:Sumf2
|
UTSW |
5 |
129,878,735 (GRCm39) |
splice site |
probably benign |
|
|
R0105:Sumf2
|
UTSW |
5 |
129,878,735 (GRCm39) |
splice site |
probably benign |
|
|
R0751:Sumf2
|
UTSW |
5 |
129,878,846 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1219:Sumf2
|
UTSW |
5 |
129,883,613 (GRCm39) |
missense |
probably benign |
|
|
R1565:Sumf2
|
UTSW |
5 |
129,888,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1678:Sumf2
|
UTSW |
5 |
129,883,557 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1778:Sumf2
|
UTSW |
5 |
129,873,909 (GRCm39) |
unclassified |
probably benign |
|
|
R2987:Sumf2
|
UTSW |
5 |
129,875,925 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R3930:Sumf2
|
UTSW |
5 |
129,878,820 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6877:Sumf2
|
UTSW |
5 |
129,878,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7060:Sumf2
|
UTSW |
5 |
129,883,341 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7326:Sumf2
|
UTSW |
5 |
129,891,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7949:Sumf2
|
UTSW |
5 |
129,881,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8291:Sumf2
|
UTSW |
5 |
129,887,138 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8356:Sumf2
|
UTSW |
5 |
129,889,003 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8456:Sumf2
|
UTSW |
5 |
129,889,003 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9185:Sumf2
|
UTSW |
5 |
129,875,909 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9649:Sumf2
|
UTSW |
5 |
129,891,482 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Posted On |
2012-12-06 |
Incidental Mutation