Incidental Mutation 'IGL02348:Sumf2'
ID |
289378 |
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 # |
IGL02348
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
129875807-129892275 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 129888711 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Cysteine
at position 216
(G216C)
|
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 damaging
Transcript: ENSMUST00000171300
AA Change: G216C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126036 Gene: ENSMUSG00000025538 AA Change: G216C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
Pfam:FGE-sulfatase
|
34 |
299 |
3.9e-88 |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap12 |
G |
A |
10: 4,304,722 (GRCm39) |
D511N |
probably damaging |
Het |
Akt3 |
T |
A |
1: 176,886,952 (GRCm39) |
D299V |
probably damaging |
Het |
Arfgef3 |
G |
A |
10: 18,467,095 (GRCm39) |
P2035L |
probably benign |
Het |
Atp13a3 |
C |
T |
16: 30,170,046 (GRCm39) |
|
probably null |
Het |
Capn9 |
C |
A |
8: 125,321,416 (GRCm39) |
P151T |
probably damaging |
Het |
Csrnp1 |
T |
A |
9: 119,801,709 (GRCm39) |
D450V |
probably damaging |
Het |
Ctrb1 |
C |
T |
8: 112,413,762 (GRCm39) |
A201T |
possibly damaging |
Het |
Erp27 |
T |
C |
6: 136,888,544 (GRCm39) |
T145A |
probably damaging |
Het |
Fads2b |
T |
C |
2: 85,323,640 (GRCm39) |
I298V |
possibly damaging |
Het |
Fanca |
A |
T |
8: 124,032,002 (GRCm39) |
L256Q |
probably damaging |
Het |
Fars2 |
G |
A |
13: 36,721,354 (GRCm39) |
V433I |
probably benign |
Het |
Fbxo9 |
T |
A |
9: 78,016,289 (GRCm39) |
M1L |
probably benign |
Het |
Fcnb |
C |
A |
2: 27,974,842 (GRCm39) |
V10F |
possibly damaging |
Het |
Gad2 |
C |
T |
2: 22,519,405 (GRCm39) |
H175Y |
probably damaging |
Het |
Get4 |
G |
A |
5: 139,238,254 (GRCm39) |
G12D |
probably benign |
Het |
Gmpr2 |
T |
A |
14: 55,915,758 (GRCm39) |
I312N |
probably damaging |
Het |
Golm1 |
T |
A |
13: 59,786,191 (GRCm39) |
M334L |
probably benign |
Het |
Itgam |
T |
A |
7: 127,715,472 (GRCm39) |
F1054L |
possibly damaging |
Het |
Kcnk7 |
C |
A |
19: 5,756,501 (GRCm39) |
|
probably benign |
Het |
Kif3b |
G |
A |
2: 153,158,813 (GRCm39) |
A205T |
probably damaging |
Het |
Macf1 |
C |
T |
4: 123,406,659 (GRCm39) |
V276M |
probably damaging |
Het |
Mdga2 |
T |
A |
12: 66,597,349 (GRCm39) |
N715I |
probably damaging |
Het |
Mfap5 |
T |
A |
6: 122,503,746 (GRCm39) |
S103R |
possibly damaging |
Het |
Nckap1 |
C |
T |
2: 80,348,326 (GRCm39) |
V876M |
probably damaging |
Het |
Ncor1 |
A |
T |
11: 62,224,485 (GRCm39) |
|
probably benign |
Het |
Nfya |
G |
A |
17: 48,700,304 (GRCm39) |
Q122* |
probably null |
Het |
Nup210l |
G |
A |
3: 90,011,471 (GRCm39) |
|
probably benign |
Het |
Or5h22 |
T |
G |
16: 58,895,312 (GRCm39) |
I44L |
probably damaging |
Het |
Pcdhb19 |
T |
A |
18: 37,631,861 (GRCm39) |
L552Q |
probably damaging |
Het |
Psmd2 |
T |
A |
16: 20,473,397 (GRCm39) |
S153T |
probably benign |
Het |
Ptpn4 |
T |
C |
1: 119,610,452 (GRCm39) |
Y685C |
probably damaging |
Het |
Rad54l2 |
T |
C |
9: 106,597,575 (GRCm39) |
R144G |
probably damaging |
Het |
S1pr4 |
A |
C |
10: 81,334,855 (GRCm39) |
Y206* |
probably null |
Het |
Slc39a14 |
A |
G |
14: 70,553,885 (GRCm39) |
|
probably null |
Het |
Stx2 |
G |
A |
5: 129,065,894 (GRCm39) |
A254V |
probably damaging |
Het |
Tbc1d32 |
A |
G |
10: 56,100,715 (GRCm39) |
S88P |
probably benign |
Het |
Trem1 |
T |
A |
17: 48,539,824 (GRCm39) |
M1K |
probably null |
Het |
Trmt1l |
T |
C |
1: 151,325,757 (GRCm39) |
Y401H |
probably damaging |
Het |
Ttc22 |
A |
T |
4: 106,480,135 (GRCm39) |
M130L |
probably damaging |
Het |
Wnk1 |
T |
C |
6: 119,940,289 (GRCm39) |
E816G |
probably damaging |
Het |
Wnt9b |
C |
T |
11: 103,622,908 (GRCm39) |
G165D |
probably damaging |
Het |
Zscan21 |
A |
G |
5: 138,131,645 (GRCm39) |
T390A |
probably damaging |
Het |
Zswim7 |
G |
T |
11: 62,159,581 (GRCm39) |
C85* |
probably null |
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 |
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 |
2015-04-16 |