Incidental Mutation 'R3054:Sumf1'
ID |
265068 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sumf1
|
Ensembl Gene |
ENSMUSG00000030101 |
Gene Name |
sulfatase modifying factor 1 |
Synonyms |
|
MMRRC Submission |
040563-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
R3054 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
108083989-108162543 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 108130165 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 185
(N185D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127537
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032191]
[ENSMUST00000167338]
[ENSMUST00000172188]
|
AlphaFold |
Q8R0F3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032191
AA Change: N210D
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000032191 Gene: ENSMUSG00000030101 AA Change: N210D
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 benign
Transcript: ENSMUST00000167338
AA Change: N185D
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000127537 Gene: ENSMUSG00000030101 AA Change: N185D
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730596B20Rik |
A |
T |
6: 52,156,108 (GRCm39) |
|
probably benign |
Het |
Aldh1l2 |
T |
C |
10: 83,338,336 (GRCm39) |
K528E |
probably benign |
Het |
Als2 |
A |
G |
1: 59,254,653 (GRCm39) |
C235R |
probably damaging |
Het |
Armc6 |
C |
A |
8: 70,677,799 (GRCm39) |
V177L |
probably benign |
Het |
Asb7 |
A |
T |
7: 66,328,959 (GRCm39) |
V27D |
probably damaging |
Het |
Bard1 |
A |
G |
1: 71,127,390 (GRCm39) |
V73A |
possibly damaging |
Het |
Ccdc150 |
A |
G |
1: 54,328,001 (GRCm39) |
N361S |
possibly damaging |
Het |
Cntn5 |
A |
G |
9: 10,419,076 (GRCm39) |
L7P |
probably benign |
Het |
Cst3 |
A |
G |
2: 148,713,951 (GRCm39) |
S118P |
probably damaging |
Het |
Cyp2a22 |
T |
C |
7: 26,638,254 (GRCm39) |
D84G |
probably damaging |
Het |
Ddo |
A |
G |
10: 40,507,738 (GRCm39) |
N45S |
probably benign |
Het |
Drd4 |
T |
C |
7: 140,874,392 (GRCm39) |
V319A |
probably damaging |
Het |
Fat3 |
C |
T |
9: 15,871,792 (GRCm39) |
R3533H |
probably benign |
Het |
Fras1 |
A |
T |
5: 96,912,802 (GRCm39) |
I3369F |
probably damaging |
Het |
Gm5591 |
T |
C |
7: 38,220,058 (GRCm39) |
S272G |
probably benign |
Het |
Gm8444 |
A |
T |
15: 81,727,845 (GRCm39) |
|
probably benign |
Het |
Gm9776 |
A |
G |
13: 94,495,158 (GRCm39) |
|
probably benign |
Het |
Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
Larp1b |
A |
T |
3: 40,918,535 (GRCm39) |
I59F |
probably benign |
Het |
Ltn1 |
C |
T |
16: 87,200,961 (GRCm39) |
A1092T |
probably benign |
Het |
Map1b |
A |
G |
13: 99,569,250 (GRCm39) |
V1157A |
unknown |
Het |
Mboat1 |
A |
T |
13: 30,379,724 (GRCm39) |
M92L |
probably benign |
Het |
Meis3 |
G |
T |
7: 15,916,378 (GRCm39) |
L284F |
probably damaging |
Het |
Muc20 |
T |
C |
16: 32,599,403 (GRCm39) |
F3317L |
probably benign |
Het |
Muc5b |
G |
T |
7: 141,417,778 (GRCm39) |
V3575F |
probably damaging |
Het |
Polr1e |
C |
T |
4: 45,018,724 (GRCm39) |
T18I |
possibly damaging |
Het |
Ppp4r1 |
G |
T |
17: 66,143,074 (GRCm39) |
A764S |
probably damaging |
Het |
Psg29 |
A |
G |
7: 16,942,727 (GRCm39) |
T243A |
probably benign |
Het |
Ptprn2 |
T |
C |
12: 116,685,753 (GRCm39) |
Y71H |
probably damaging |
Het |
Radx |
T |
A |
X: 138,412,306 (GRCm39) |
V439E |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sh3bp1 |
C |
T |
15: 78,795,622 (GRCm39) |
P584S |
probably benign |
Het |
Slc4a4 |
T |
C |
5: 89,373,807 (GRCm39) |
V971A |
probably damaging |
Het |
Stil |
T |
A |
4: 114,862,163 (GRCm39) |
H35Q |
probably damaging |
Het |
Strn |
A |
T |
17: 78,990,321 (GRCm39) |
V65D |
probably damaging |
Het |
Timm29 |
T |
C |
9: 21,504,887 (GRCm39) |
M185T |
probably damaging |
Het |
Tjp3 |
T |
C |
10: 81,116,341 (GRCm39) |
K251R |
probably benign |
Het |
Tubgcp6 |
A |
T |
15: 89,006,806 (GRCm39) |
M72K |
probably damaging |
Het |
Utp14b |
T |
A |
1: 78,642,442 (GRCm39) |
D113E |
possibly damaging |
Het |
Vps13b |
A |
G |
15: 35,646,507 (GRCm39) |
E1537G |
probably damaging |
Het |
Zfr |
A |
G |
15: 12,154,593 (GRCm39) |
N592S |
probably damaging |
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 |
R4246:Sumf1
|
UTSW |
6 |
108,131,974 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TTCCTGACCACAGCAAGTTC -3'
(R):5'- GAGAGGCTGTGACCCATTTG -3'
Sequencing Primer
(F):5'- TGACCACAGCAAGTTCCAGGG -3'
(R):5'- TGGGCATCTAAAACTTCAGAAGTCC -3'
|
Posted On |
2015-02-05 |