Incidental Mutation 'R1219:Sumf2'
| ID |
99905 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sumf2
|
| Ensembl Gene |
ENSMUSG00000025538 |
| Gene Name |
sulfatase modifying factor 2 |
| Synonyms |
2610040F05Rik |
| MMRRC Submission |
039288-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R1219 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
129875807-129892275 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 129883613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 164
(A164S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126036
(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
AA Change: A164S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126036
Gene: ENSMUSG00000025538
AA Change: A164S
| 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 |
|
| Meta Mutation Damage Score |
0.1054 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
98% (44/45) |
| 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 |
|---|
| Atad2 |
A |
G |
15: 57,998,307 (GRCm39) |
S22P |
probably benign |
Het |
| Atrn |
A |
T |
2: 130,862,927 (GRCm39) |
T1336S |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 37,000,619 (GRCm39) |
L1266* |
probably null |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Ccdc113 |
T |
C |
8: 96,264,895 (GRCm39) |
|
probably benign |
Het |
| Ccdc158 |
A |
G |
5: 92,802,040 (GRCm39) |
|
probably benign |
Het |
| Ciao3 |
T |
C |
17: 25,994,075 (GRCm39) |
I41T |
probably damaging |
Het |
| Dcun1d3 |
G |
T |
7: 119,458,631 (GRCm39) |
Q135K |
probably damaging |
Het |
| Dnah7b |
A |
C |
1: 46,379,280 (GRCm39) |
E3671D |
probably benign |
Het |
| Eea1 |
A |
G |
10: 95,846,623 (GRCm39) |
|
probably benign |
Het |
| Entrep3 |
T |
C |
3: 89,091,155 (GRCm39) |
V42A |
probably damaging |
Het |
| Gdf10 |
G |
A |
14: 33,654,710 (GRCm39) |
A406T |
probably benign |
Het |
| Gm5111 |
A |
G |
6: 48,567,328 (GRCm39) |
|
probably benign |
Het |
| Golga3 |
G |
T |
5: 110,332,215 (GRCm39) |
E50* |
probably null |
Het |
| Junb |
T |
C |
8: 85,704,268 (GRCm39) |
E264G |
probably damaging |
Het |
| Kash5 |
A |
G |
7: 44,838,832 (GRCm39) |
|
probably benign |
Het |
| Kifc1 |
G |
A |
17: 34,103,685 (GRCm39) |
R195C |
probably benign |
Het |
| Krt18 |
T |
C |
15: 101,939,723 (GRCm39) |
|
probably benign |
Het |
| Man1a |
G |
A |
10: 53,795,249 (GRCm39) |
|
probably benign |
Het |
| Mapkbp1 |
G |
T |
2: 119,849,831 (GRCm39) |
G768* |
probably null |
Het |
| Mybpc2 |
A |
C |
7: 44,165,458 (GRCm39) |
|
probably null |
Het |
| Nectin3 |
A |
T |
16: 46,275,042 (GRCm39) |
C238* |
probably null |
Het |
| Ntf3 |
G |
T |
6: 126,079,174 (GRCm39) |
R98S |
possibly damaging |
Het |
| Nup153 |
T |
G |
13: 46,840,695 (GRCm39) |
Q971P |
probably benign |
Het |
| Nup155 |
A |
G |
15: 8,146,822 (GRCm39) |
T221A |
possibly damaging |
Het |
| Ppp2r1b |
T |
C |
9: 50,778,621 (GRCm39) |
|
probably benign |
Het |
| Prkd1 |
A |
T |
12: 50,435,125 (GRCm39) |
V534E |
probably damaging |
Het |
| Rabep2 |
A |
G |
7: 126,028,799 (GRCm39) |
E26G |
probably damaging |
Het |
| Rnf213 |
C |
A |
11: 119,327,003 (GRCm39) |
N1663K |
probably damaging |
Het |
| Slc1a1 |
G |
A |
19: 28,882,146 (GRCm39) |
|
probably benign |
Het |
| Slc36a4 |
T |
C |
9: 15,634,832 (GRCm39) |
Y125H |
probably damaging |
Het |
| Slc6a11 |
G |
A |
6: 114,202,772 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
C |
T |
14: 30,862,578 (GRCm39) |
|
probably null |
Het |
| Sv2b |
T |
C |
7: 74,786,160 (GRCm39) |
D420G |
probably benign |
Het |
| Ube2v1 |
T |
C |
2: 167,459,831 (GRCm39) |
D56G |
probably benign |
Het |
| Ung |
A |
G |
5: 114,270,228 (GRCm39) |
|
probably benign |
Het |
| Vcan |
T |
C |
13: 89,828,023 (GRCm39) |
Y2181C |
probably damaging |
Het |
| Vmn1r238 |
G |
A |
18: 3,123,135 (GRCm39) |
T93I |
possibly damaging |
Het |
| Vmn2r14 |
A |
C |
5: 109,372,440 (GRCm39) |
S17A |
probably benign |
Het |
| Vmn2r25 |
A |
G |
6: 123,816,282 (GRCm39) |
V433A |
probably benign |
Het |
| Zfp36l2 |
A |
G |
17: 84,495,070 (GRCm39) |
|
probably null |
Het |
| Zfp646 |
G |
A |
7: 127,482,292 (GRCm39) |
G1490S |
probably benign |
Het |
| Zfp839 |
A |
G |
12: 110,834,707 (GRCm39) |
D654G |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAGGACATTTTAGGAGTAACCCCG -3'
(R):5'- TCCTTACGAGAGGGGACTCGAAAATC -3'
Sequencing Primer
(F):5'- tcctccttcctcaaccttcc -3'
(R):5'- GGGGACTCGAAAATCCCTTC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation