Incidental Mutation 'R0105:Fam20b'
ID |
17777 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam20b
|
Ensembl Gene |
ENSMUSG00000033557 |
Gene Name |
FAM20B, glycosaminoglycan xylosylkinase |
Synonyms |
C530043G21Rik |
MMRRC Submission |
038391-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0105 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
156506102-156546656 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 156518140 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 218
(E218G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112534
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086153]
[ENSMUST00000122424]
|
AlphaFold |
Q8VCS3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086153
AA Change: E218G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000083322 Gene: ENSMUSG00000033557 AA Change: E218G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
25 |
N/A |
INTRINSIC |
Pfam:Fam20C
|
188 |
399 |
3.1e-89 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000122424
AA Change: E218G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112534 Gene: ENSMUSG00000033557 AA Change: E218G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
25 |
N/A |
INTRINSIC |
Pfam:DUF1193
|
187 |
402 |
2e-95 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190878
|
Meta Mutation Damage Score |
0.9274 |
Coding Region Coverage |
- 1x: 85.3%
- 3x: 77.7%
- 10x: 47.9%
- 20x: 15.1%
|
Validation Efficiency |
96% (53/55) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit complete embryonic lethality associated with decreased embryo size, multisystem organ hypoplasia, and delayed skeleton, digestive system, eye, liver, and lung development. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530053G22Rik |
T |
C |
6: 60,379,137 (GRCm39) |
|
noncoding transcript |
Het |
Adcy9 |
A |
G |
16: 4,106,252 (GRCm39) |
V954A |
probably damaging |
Het |
Aldh8a1 |
T |
A |
10: 21,271,438 (GRCm39) |
M388K |
probably damaging |
Het |
Cdsn |
A |
C |
17: 35,867,035 (GRCm39) |
R521S |
possibly damaging |
Het |
Cog3 |
A |
G |
14: 75,959,580 (GRCm39) |
S591P |
probably damaging |
Het |
Cplane1 |
T |
A |
15: 8,216,876 (GRCm39) |
V698D |
probably benign |
Het |
Crmp1 |
T |
A |
5: 37,441,479 (GRCm39) |
D520E |
probably damaging |
Het |
Ddhd1 |
T |
C |
14: 45,848,147 (GRCm39) |
D507G |
probably benign |
Het |
Dnah6 |
C |
T |
6: 73,132,262 (GRCm39) |
A1147T |
probably damaging |
Het |
Dsg2 |
T |
C |
18: 20,735,111 (GRCm39) |
S1030P |
probably benign |
Het |
Gab2 |
T |
C |
7: 96,948,279 (GRCm39) |
Y290H |
probably damaging |
Het |
Gm973 |
A |
G |
1: 59,621,633 (GRCm39) |
Q591R |
probably null |
Het |
Gsdmc2 |
T |
C |
15: 63,700,026 (GRCm39) |
T249A |
probably benign |
Het |
Il15ra |
T |
A |
2: 11,735,459 (GRCm39) |
|
probably null |
Het |
Isy1 |
G |
A |
6: 87,796,167 (GRCm39) |
R257W |
probably damaging |
Het |
Krt76 |
T |
C |
15: 101,793,347 (GRCm39) |
T564A |
unknown |
Het |
Lrrk1 |
G |
T |
7: 65,942,089 (GRCm39) |
D716E |
probably damaging |
Het |
Mogat1 |
A |
G |
1: 78,500,307 (GRCm39) |
T124A |
probably benign |
Het |
Mroh7 |
T |
C |
4: 106,568,467 (GRCm39) |
T48A |
possibly damaging |
Het |
Or4a71 |
T |
C |
2: 89,358,707 (GRCm39) |
T16A |
probably benign |
Het |
Pkhd1 |
G |
A |
1: 20,593,956 (GRCm39) |
Q1386* |
probably null |
Het |
Pla2r1 |
T |
C |
2: 60,345,325 (GRCm39) |
R344G |
possibly damaging |
Het |
Plekhg4 |
G |
A |
8: 106,108,644 (GRCm39) |
V1202M |
possibly damaging |
Het |
Ppil4 |
A |
G |
10: 7,674,210 (GRCm39) |
Y118C |
probably damaging |
Het |
Ptpn4 |
C |
T |
1: 119,615,335 (GRCm39) |
|
probably null |
Het |
Reln |
G |
A |
5: 22,253,813 (GRCm39) |
R600W |
probably damaging |
Het |
Sumf2 |
T |
A |
5: 129,878,735 (GRCm39) |
|
probably benign |
Het |
Tex10 |
C |
A |
4: 48,468,957 (GRCm39) |
V73F |
probably damaging |
Het |
Tgm5 |
C |
A |
2: 120,907,493 (GRCm39) |
G77W |
probably damaging |
Het |
Tnfrsf21 |
T |
A |
17: 43,351,082 (GRCm39) |
|
probably null |
Het |
Treml2 |
C |
T |
17: 48,609,856 (GRCm39) |
T96I |
probably damaging |
Het |
Zcchc17 |
T |
A |
4: 130,243,099 (GRCm39) |
D28V |
probably benign |
Het |
Zkscan6 |
T |
A |
11: 65,712,811 (GRCm39) |
L248Q |
probably damaging |
Het |
|
Other mutations in Fam20b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01611:Fam20b
|
APN |
1 |
156,530,035 (GRCm39) |
missense |
probably benign |
0.13 |
Cancelled
|
UTSW |
1 |
156,533,407 (GRCm39) |
missense |
probably damaging |
1.00 |
consequences
|
UTSW |
1 |
156,518,123 (GRCm39) |
missense |
probably damaging |
1.00 |
delisted
|
UTSW |
1 |
156,518,215 (GRCm39) |
missense |
probably benign |
0.18 |
Head_over_heels
|
UTSW |
1 |
156,518,140 (GRCm39) |
missense |
probably damaging |
1.00 |
minuscule
|
UTSW |
1 |
156,533,310 (GRCm39) |
missense |
probably damaging |
1.00 |
squirt
|
UTSW |
1 |
156,533,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R0105:Fam20b
|
UTSW |
1 |
156,518,140 (GRCm39) |
missense |
probably damaging |
1.00 |
R0389:Fam20b
|
UTSW |
1 |
156,509,023 (GRCm39) |
missense |
probably benign |
0.00 |
R0443:Fam20b
|
UTSW |
1 |
156,509,023 (GRCm39) |
missense |
probably benign |
0.00 |
R0518:Fam20b
|
UTSW |
1 |
156,515,026 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1466:Fam20b
|
UTSW |
1 |
156,513,758 (GRCm39) |
splice site |
probably benign |
|
R1584:Fam20b
|
UTSW |
1 |
156,513,758 (GRCm39) |
splice site |
probably benign |
|
R2014:Fam20b
|
UTSW |
1 |
156,533,511 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4085:Fam20b
|
UTSW |
1 |
156,533,445 (GRCm39) |
missense |
probably benign |
0.01 |
R4755:Fam20b
|
UTSW |
1 |
156,515,066 (GRCm39) |
nonsense |
probably null |
|
R5254:Fam20b
|
UTSW |
1 |
156,533,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R5471:Fam20b
|
UTSW |
1 |
156,533,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R6886:Fam20b
|
UTSW |
1 |
156,518,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R6944:Fam20b
|
UTSW |
1 |
156,515,091 (GRCm39) |
missense |
probably benign |
0.02 |
R7013:Fam20b
|
UTSW |
1 |
156,518,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R7205:Fam20b
|
UTSW |
1 |
156,529,968 (GRCm39) |
critical splice donor site |
probably null |
|
R7215:Fam20b
|
UTSW |
1 |
156,518,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R7286:Fam20b
|
UTSW |
1 |
156,509,012 (GRCm39) |
missense |
probably benign |
0.28 |
R7684:Fam20b
|
UTSW |
1 |
156,518,215 (GRCm39) |
missense |
probably benign |
0.18 |
R8036:Fam20b
|
UTSW |
1 |
156,533,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R8119:Fam20b
|
UTSW |
1 |
156,518,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R9231:Fam20b
|
UTSW |
1 |
156,509,084 (GRCm39) |
missense |
probably benign |
0.40 |
R9562:Fam20b
|
UTSW |
1 |
156,530,010 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2013-01-31 |