Incidental Mutation 'IGL03074:Sumf2'
| ID |
417635 |
| 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: 0.107)
|
| Stock # |
IGL03074
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
129875807-129892275 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 129888674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126036
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026617]
[ENSMUST00000137357]
[ENSMUST00000171300]
|
| AlphaFold |
Q8BPG6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026617
|
| SMART Domains |
Protein: ENSMUSP00000026617
Gene: ENSMUSG00000025537
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
288 |
3.79e-106 |
SMART |
|
| 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
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,201,101 (GRCm39) |
Y433F |
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Anks4b |
A |
T |
7: 119,781,140 (GRCm39) |
D57V |
probably damaging |
Het |
| Brwd1 |
A |
G |
16: 95,813,050 (GRCm39) |
V1486A |
probably benign |
Het |
| Cd163 |
A |
G |
6: 124,294,945 (GRCm39) |
T670A |
probably benign |
Het |
| Dmtf1 |
T |
C |
5: 9,174,435 (GRCm39) |
|
probably benign |
Het |
| Dnajc22 |
T |
A |
15: 98,999,403 (GRCm39) |
L196Q |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,844,682 (GRCm39) |
L1097P |
possibly damaging |
Het |
| Dtna |
T |
C |
18: 23,735,662 (GRCm39) |
V339A |
possibly damaging |
Het |
| Dysf |
T |
A |
6: 84,165,208 (GRCm39) |
S1646T |
probably benign |
Het |
| Ermp1 |
A |
T |
19: 29,589,935 (GRCm39) |
Y893N |
probably damaging |
Het |
| Etv6 |
A |
T |
6: 134,199,888 (GRCm39) |
N76I |
probably damaging |
Het |
| Farp2 |
T |
C |
1: 93,488,049 (GRCm39) |
V92A |
probably benign |
Het |
| Fgf21 |
T |
C |
7: 45,263,605 (GRCm39) |
T158A |
probably benign |
Het |
| Gcm1 |
T |
C |
9: 77,972,057 (GRCm39) |
S333P |
possibly damaging |
Het |
| Grm7 |
T |
A |
6: 111,472,604 (GRCm39) |
|
probably null |
Het |
| Itgae |
T |
C |
11: 73,016,136 (GRCm39) |
F782L |
probably benign |
Het |
| Kbtbd8 |
A |
G |
6: 95,099,333 (GRCm39) |
T204A |
probably damaging |
Het |
| Kcp |
A |
G |
6: 29,496,630 (GRCm39) |
C627R |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,529,480 (GRCm39) |
V2041A |
possibly damaging |
Het |
| Mcm5 |
T |
C |
8: 75,845,929 (GRCm39) |
M379T |
possibly damaging |
Het |
| Mcu |
A |
G |
10: 59,303,580 (GRCm39) |
S86P |
probably damaging |
Het |
| Naa25 |
T |
C |
5: 121,546,400 (GRCm39) |
|
probably null |
Het |
| Or10ag59 |
T |
A |
2: 87,405,680 (GRCm39) |
L84H |
possibly damaging |
Het |
| Or5b117 |
A |
G |
19: 13,431,417 (GRCm39) |
S155P |
probably damaging |
Het |
| Osbpl9 |
T |
C |
4: 108,929,158 (GRCm39) |
H400R |
probably damaging |
Het |
| Pip5kl1 |
A |
G |
2: 32,470,353 (GRCm39) |
N278D |
probably damaging |
Het |
| Ppp1r12b |
T |
C |
1: 134,763,758 (GRCm39) |
T759A |
probably benign |
Het |
| Psg27 |
T |
C |
7: 18,294,454 (GRCm39) |
T318A |
probably benign |
Het |
| Rtkn2 |
T |
G |
10: 67,877,551 (GRCm39) |
L537R |
probably damaging |
Het |
| Sdr39u1 |
C |
T |
14: 56,137,103 (GRCm39) |
|
probably null |
Het |
| Slc38a1 |
A |
T |
15: 96,490,405 (GRCm39) |
I124N |
possibly damaging |
Het |
| Thsd7a |
A |
G |
6: 12,324,680 (GRCm39) |
Y1464H |
probably damaging |
Het |
| Unc80 |
C |
T |
1: 66,710,877 (GRCm39) |
|
probably benign |
Het |
| Zfp366 |
A |
G |
13: 99,382,913 (GRCm39) |
D692G |
probably benign |
Het |
|
| Other mutations in Sumf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00654:Sumf2
|
APN |
5 |
129,882,918 (GRCm39) |
intron |
probably benign |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation