Incidental Mutation 'IGL01285:Sumf2'
| ID |
72693 |
| 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 # |
IGL01285
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
129875807-129892275 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129878811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 49
(D49G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144230
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000137357]
[ENSMUST00000171300]
[ENSMUST00000201874]
|
| AlphaFold |
Q8BPG6 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000031402
|
| SMART Domains |
Protein: ENSMUSP00000031402
Gene: ENSMUSG00000029447
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
21 |
N/A |
INTRINSIC |
|
Pfam:Cpn60_TCP1
|
30 |
527 |
9.9e-153 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122826
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137357
AA Change: D45G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144155
Gene: ENSMUSG00000025538
AA Change: D45G
| 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 damaging
Transcript: ENSMUST00000171300
AA Change: D54G
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126036
Gene: ENSMUSG00000025538
AA Change: D54G
| 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 |
noncoding transcript
Transcript: ENSMUST00000201414
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201874
AA Change: D49G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144230
Gene: ENSMUSG00000025538
AA Change: D49G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:FGE-sulfatase
|
29 |
135 |
3.5e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201927
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202466
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
T |
C |
8: 25,271,610 (GRCm39) |
N599S |
probably benign |
Het |
| Adam6a |
A |
T |
12: 113,509,893 (GRCm39) |
*755Y |
probably null |
Het |
| Adgrb3 |
G |
T |
1: 25,132,868 (GRCm39) |
T1166K |
probably benign |
Het |
| Ano1 |
T |
C |
7: 144,198,479 (GRCm39) |
Y345C |
probably benign |
Het |
| Ano1 |
A |
G |
7: 144,149,275 (GRCm39) |
V862A |
probably damaging |
Het |
| Asap2 |
C |
T |
12: 21,279,264 (GRCm39) |
A382V |
probably damaging |
Het |
| Asb18 |
A |
G |
1: 89,923,963 (GRCm39) |
V100A |
probably benign |
Het |
| Bdnf |
G |
A |
2: 109,553,931 (GRCm39) |
A102T |
probably benign |
Het |
| Ccser2 |
G |
A |
14: 36,660,626 (GRCm39) |
T509M |
probably damaging |
Het |
| Cfap47 |
A |
G |
X: 78,532,764 (GRCm39) |
I767T |
possibly damaging |
Het |
| Des |
G |
A |
1: 75,339,227 (GRCm39) |
A251T |
probably benign |
Het |
| Dmd |
C |
T |
X: 84,153,590 (GRCm39) |
Q3224* |
probably null |
Het |
| Endog |
G |
T |
2: 30,061,975 (GRCm39) |
|
probably null |
Het |
| Ggt7 |
A |
G |
2: 155,342,691 (GRCm39) |
V269A |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,686,739 (GRCm39) |
F808S |
probably damaging |
Het |
| Hira |
A |
G |
16: 18,730,930 (GRCm39) |
T210A |
probably benign |
Het |
| Ifitm5 |
C |
A |
7: 140,530,076 (GRCm39) |
R16L |
probably benign |
Het |
| Igdcc4 |
T |
C |
9: 65,031,273 (GRCm39) |
C404R |
probably damaging |
Het |
| Ints7 |
G |
A |
1: 191,347,890 (GRCm39) |
R754H |
probably benign |
Het |
| Irf9 |
A |
G |
14: 55,845,058 (GRCm39) |
E258G |
probably damaging |
Het |
| Megf11 |
T |
C |
9: 64,567,728 (GRCm39) |
C406R |
probably damaging |
Het |
| Olfml1 |
A |
G |
7: 107,189,364 (GRCm39) |
N143S |
possibly damaging |
Het |
| Or4m1 |
A |
G |
14: 50,557,713 (GRCm39) |
F193S |
possibly damaging |
Het |
| Or6c66b |
T |
A |
10: 129,376,711 (GRCm39) |
F102I |
probably benign |
Het |
| Or7g30 |
A |
G |
9: 19,352,266 (GRCm39) |
D19G |
probably benign |
Het |
| Otof |
G |
T |
5: 30,562,527 (GRCm39) |
Q254K |
probably damaging |
Het |
| Pate7 |
A |
T |
9: 35,688,044 (GRCm39) |
N65K |
possibly damaging |
Het |
| Plcd3 |
A |
G |
11: 102,968,696 (GRCm39) |
F332L |
probably benign |
Het |
| Plxnc1 |
T |
C |
10: 94,635,230 (GRCm39) |
D1332G |
probably damaging |
Het |
| Rnasel |
A |
T |
1: 153,634,130 (GRCm39) |
D521V |
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,575,143 (GRCm39) |
V417D |
possibly damaging |
Het |
| Senp6 |
G |
A |
9: 80,044,000 (GRCm39) |
R877Q |
probably benign |
Het |
| Shroom2 |
A |
T |
X: 151,442,353 (GRCm39) |
D937E |
probably damaging |
Het |
| Slc35a3 |
A |
G |
3: 116,488,262 (GRCm39) |
S142P |
probably damaging |
Het |
| Srpx |
A |
T |
X: 9,905,298 (GRCm39) |
V398E |
probably damaging |
Het |
| Stk10 |
A |
T |
11: 32,560,653 (GRCm39) |
K669N |
possibly damaging |
Het |
| Syde1 |
T |
A |
10: 78,424,721 (GRCm39) |
E370D |
probably damaging |
Het |
| Tas2r115 |
G |
T |
6: 132,714,641 (GRCm39) |
S103R |
probably damaging |
Het |
| Top2a |
G |
A |
11: 98,896,985 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,550,842 (GRCm39) |
T23190S |
probably damaging |
Het |
| Ttyh3 |
C |
A |
5: 140,615,167 (GRCm39) |
C407F |
probably damaging |
Het |
| Vmn2r27 |
G |
T |
6: 124,169,370 (GRCm39) |
H587N |
possibly damaging |
Het |
| Vmn2r74 |
A |
G |
7: 85,606,692 (GRCm39) |
I218T |
possibly damaging |
Het |
| Vsig10 |
A |
G |
5: 117,462,954 (GRCm39) |
N60S |
probably benign |
Het |
| Zc3h7a |
A |
G |
16: 10,956,979 (GRCm39) |
S877P |
probably damaging |
Het |
| Zfp979 |
G |
T |
4: 147,699,853 (GRCm39) |
T29N |
probably damaging |
Het |
| Znfx1 |
G |
A |
2: 166,880,615 (GRCm39) |
R390C |
possibly damaging |
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 |
|
|
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 |
2013-10-07 |
Incidental Mutation