Incidental Mutation 'R4246:Sumf1'
| ID |
320422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sumf1
|
| Ensembl Gene |
ENSMUSG00000030101 |
| Gene Name |
sulfatase modifying factor 1 |
| Synonyms |
|
| MMRRC Submission |
041062-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R4246 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
108083989-108162543 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 108131974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 156
(V156G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127537
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032191]
[ENSMUST00000167338]
[ENSMUST00000172188]
|
| AlphaFold |
Q8R0F3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032191
AA Change: V181G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032191
Gene: ENSMUSG00000030101
AA Change: V181G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
51 |
N/A |
INTRINSIC |
|
Pfam:FGE-sulfatase
|
85 |
365 |
1.4e-93 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167338
AA Change: V156G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127537
Gene: ENSMUSG00000030101
AA Change: V156G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
51 |
N/A |
INTRINSIC |
|
Pfam:FGE-sulfatase
|
85 |
340 |
1.2e-93 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171697
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172188
|
| SMART Domains |
Protein: ENSMUSP00000132321
Gene: ENSMUSG00000030101
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
51 |
N/A |
INTRINSIC |
|
Pfam:FGE-sulfatase
|
85 |
149 |
9.5e-18 |
PFAM |
|
Pfam:FGE-sulfatase
|
144 |
233 |
4.9e-30 |
PFAM |
|
| Meta Mutation Damage Score |
0.9032 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygotes lacking all sulfatase activities exhibit frequent early postnatal lethality and growth retardation, skeletal anomalies, neurological defects, and massive GAG accumulation and cell vacuolization in all tissues in association with systemic inflammation, apoptosis, and neurodegeneration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,606,013 (GRCm39) |
N36S |
possibly damaging |
Het |
| Ak1 |
A |
G |
2: 32,523,384 (GRCm39) |
T151A |
possibly damaging |
Het |
| Asxl3 |
A |
G |
18: 22,658,557 (GRCm39) |
D2189G |
probably damaging |
Het |
| Ccdc91 |
C |
T |
6: 147,493,646 (GRCm39) |
A346V |
unknown |
Het |
| Dnah6 |
C |
T |
6: 73,106,431 (GRCm39) |
E1769K |
probably benign |
Het |
| Dock6 |
A |
T |
9: 21,750,786 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
A |
G |
18: 25,123,123 (GRCm39) |
K271R |
probably null |
Het |
| Glyatl3 |
T |
A |
17: 41,220,989 (GRCm39) |
D126V |
probably benign |
Het |
| Gnal |
C |
G |
18: 67,221,654 (GRCm39) |
P19R |
unknown |
Het |
| Igkv8-21 |
T |
A |
6: 70,292,436 (GRCm39) |
M1L |
possibly damaging |
Het |
| Itih4 |
C |
A |
14: 30,613,359 (GRCm39) |
H261N |
probably damaging |
Het |
| Jpt1 |
T |
C |
11: 115,405,119 (GRCm39) |
|
probably benign |
Het |
| Kif14 |
G |
T |
1: 136,401,126 (GRCm39) |
M492I |
possibly damaging |
Het |
| Klhl32 |
A |
C |
4: 24,800,822 (GRCm39) |
S3A |
possibly damaging |
Het |
| Kmt2d |
C |
T |
15: 98,737,970 (GRCm39) |
|
probably benign |
Het |
| Lamtor5 |
T |
C |
3: 107,186,354 (GRCm39) |
V41A |
probably benign |
Het |
| Lmtk3 |
G |
A |
7: 45,443,486 (GRCm39) |
C723Y |
possibly damaging |
Het |
| Lrfn1 |
G |
T |
7: 28,159,367 (GRCm39) |
V429L |
probably benign |
Het |
| Mapkbp1 |
T |
A |
2: 119,843,508 (GRCm39) |
I252N |
probably damaging |
Het |
| Nelfa |
A |
G |
5: 34,056,373 (GRCm39) |
F464S |
probably damaging |
Het |
| Nipbl |
G |
A |
15: 8,361,916 (GRCm39) |
L1454F |
probably damaging |
Het |
| Nr4a3 |
C |
T |
4: 48,083,125 (GRCm39) |
P553S |
possibly damaging |
Het |
| Nrg3 |
G |
A |
14: 39,194,198 (GRCm39) |
T187I |
possibly damaging |
Het |
| Or5m5 |
T |
A |
2: 85,814,624 (GRCm39) |
C147S |
possibly damaging |
Het |
| Or8g36 |
A |
G |
9: 39,422,899 (GRCm39) |
V39A |
probably benign |
Het |
| Pcdha8 |
A |
G |
18: 37,125,950 (GRCm39) |
E144G |
probably damaging |
Het |
| Pik3cb |
T |
C |
9: 98,983,229 (GRCm39) |
|
probably null |
Het |
| Pira1 |
C |
T |
7: 3,740,348 (GRCm39) |
G291E |
probably damaging |
Het |
| Pkd1l1 |
C |
T |
11: 8,815,543 (GRCm39) |
R1456K |
possibly damaging |
Het |
| Ppp1r3a |
T |
A |
6: 14,719,780 (GRCm39) |
E378V |
probably damaging |
Het |
| Psd2 |
T |
C |
18: 36,139,172 (GRCm39) |
L540P |
probably damaging |
Het |
| Rnf14 |
T |
A |
18: 38,434,701 (GRCm39) |
|
probably null |
Het |
| Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Sh3d19 |
G |
A |
3: 86,033,995 (GRCm39) |
V783I |
probably benign |
Het |
| Snca |
T |
C |
6: 60,710,149 (GRCm39) |
E110G |
possibly damaging |
Het |
| Trhr |
A |
T |
15: 44,096,856 (GRCm39) |
|
probably null |
Het |
| Tsen2 |
A |
G |
6: 115,524,785 (GRCm39) |
|
probably benign |
Het |
| Tuft1 |
C |
A |
3: 94,522,108 (GRCm39) |
M319I |
probably benign |
Het |
| Vill |
C |
A |
9: 118,889,461 (GRCm39) |
N132K |
probably damaging |
Het |
| Wars2 |
T |
A |
3: 99,123,904 (GRCm39) |
V255E |
probably damaging |
Het |
| Zcchc14 |
CTGATGGTGGTGGTGATGGTGGTGG |
CTGATGGTGGTGG |
8: 122,331,031 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Sumf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01112:Sumf1
|
APN |
6 |
108,152,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01624:Sumf1
|
APN |
6 |
108,130,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02146:Sumf1
|
APN |
6 |
108,150,392 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0594:Sumf1
|
UTSW |
6 |
108,150,375 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0633:Sumf1
|
UTSW |
6 |
108,121,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1479:Sumf1
|
UTSW |
6 |
108,153,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3036:Sumf1
|
UTSW |
6 |
108,130,152 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3054:Sumf1
|
UTSW |
6 |
108,130,165 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4247:Sumf1
|
UTSW |
6 |
108,131,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4249:Sumf1
|
UTSW |
6 |
108,131,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4574:Sumf1
|
UTSW |
6 |
108,085,393 (GRCm39) |
unclassified |
probably benign |
|
|
R4853:Sumf1
|
UTSW |
6 |
108,162,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5146:Sumf1
|
UTSW |
6 |
108,162,271 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5764:Sumf1
|
UTSW |
6 |
108,095,424 (GRCm39) |
intron |
probably benign |
|
|
R7981:Sumf1
|
UTSW |
6 |
108,129,186 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9410:Sumf1
|
UTSW |
6 |
108,150,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9434:Sumf1
|
UTSW |
6 |
108,130,096 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9698:Sumf1
|
UTSW |
6 |
108,131,923 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGGCTGATTATACCTGCC -3'
(R):5'- ATCCCTGTAGCTATGTGGCAC -3'
Sequencing Primer
(F):5'- ACCTGCCATTCATTTTACATATGAAG -3'
(R):5'- GGTCACATGTAAGTCTATGGCAC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation