Incidental Mutation 'IGL02476:Extl3'
ID |
294937 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Extl3
|
Ensembl Gene |
ENSMUSG00000021978 |
Gene Name |
exostosin-like glycosyltransferase 3 |
Synonyms |
2900009G18Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02476
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
65289509-65387304 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 65314693 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 163
(K163R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153547
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022550]
[ENSMUST00000225633]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022550
AA Change: K163R
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000022550 Gene: ENSMUSG00000021978 AA Change: K163R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
coiled coil region
|
81 |
150 |
N/A |
INTRINSIC |
Pfam:Exostosin
|
190 |
500 |
1.6e-60 |
PFAM |
Pfam:Glyco_transf_64
|
663 |
904 |
1.3e-101 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223989
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225633
AA Change: K163R
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. [provided by RefSeq, Nov 2012] PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis and lack heparan sulfate derived disaccharides. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aamp |
T |
A |
1: 74,320,683 (GRCm39) |
|
probably benign |
Het |
Birc6 |
A |
G |
17: 75,003,386 (GRCm39) |
E4752G |
possibly damaging |
Het |
Chd1 |
C |
T |
17: 15,954,535 (GRCm39) |
P468S |
probably damaging |
Het |
Cnot3 |
A |
G |
7: 3,661,067 (GRCm39) |
D556G |
probably benign |
Het |
Csnk1d |
A |
G |
11: 120,863,338 (GRCm39) |
Y201H |
probably damaging |
Het |
Dhtkd1 |
A |
G |
2: 5,935,717 (GRCm39) |
S132P |
possibly damaging |
Het |
Dhx58 |
G |
T |
11: 100,593,090 (GRCm39) |
Q206K |
probably benign |
Het |
Dio1 |
C |
A |
4: 107,149,574 (GRCm39) |
V195F |
probably damaging |
Het |
Dio3 |
T |
C |
12: 110,245,916 (GRCm39) |
V84A |
probably benign |
Het |
Dnai4 |
T |
A |
4: 102,944,545 (GRCm39) |
I3L |
possibly damaging |
Het |
Fat2 |
A |
T |
11: 55,201,950 (GRCm39) |
S375T |
probably damaging |
Het |
Fbrs |
A |
G |
7: 127,086,841 (GRCm39) |
D73G |
probably damaging |
Het |
Fnip1 |
A |
G |
11: 54,390,393 (GRCm39) |
|
probably benign |
Het |
Frmpd4 |
A |
G |
X: 166,280,851 (GRCm39) |
V343A |
probably damaging |
Het |
Gcc1 |
T |
C |
6: 28,420,468 (GRCm39) |
D283G |
probably benign |
Het |
Ghr |
T |
C |
15: 3,349,528 (GRCm39) |
D550G |
probably damaging |
Het |
Glycam1 |
G |
A |
15: 103,471,307 (GRCm39) |
|
probably benign |
Het |
Gpatch8 |
A |
G |
11: 102,369,417 (GRCm39) |
S1374P |
probably damaging |
Het |
Grm1 |
A |
T |
10: 10,565,197 (GRCm39) |
M1037K |
probably benign |
Het |
Gtpbp3 |
T |
C |
8: 71,945,242 (GRCm39) |
L438P |
probably damaging |
Het |
Ifi205 |
G |
T |
1: 173,842,627 (GRCm39) |
N356K |
probably damaging |
Het |
Ifi206 |
A |
G |
1: 173,309,132 (GRCm39) |
L288P |
probably benign |
Het |
Ift57 |
T |
C |
16: 49,584,252 (GRCm39) |
V291A |
probably benign |
Het |
Kif13a |
A |
C |
13: 46,938,772 (GRCm39) |
C166G |
probably damaging |
Het |
Lypd6 |
A |
G |
2: 50,080,740 (GRCm39) |
T143A |
possibly damaging |
Het |
Mtus2 |
G |
A |
5: 148,014,748 (GRCm39) |
A514T |
probably benign |
Het |
Neu2 |
T |
C |
1: 87,524,674 (GRCm39) |
W220R |
probably damaging |
Het |
Notch3 |
T |
C |
17: 32,377,612 (GRCm39) |
S155G |
possibly damaging |
Het |
Nrxn2 |
A |
G |
19: 6,505,015 (GRCm39) |
E286G |
probably damaging |
Het |
Onecut3 |
A |
G |
10: 80,349,724 (GRCm39) |
E406G |
probably benign |
Het |
Oog2 |
T |
A |
4: 143,921,799 (GRCm39) |
D236E |
probably benign |
Het |
Pck1 |
A |
G |
2: 173,000,075 (GRCm39) |
H502R |
probably benign |
Het |
Pld1 |
A |
G |
3: 28,102,188 (GRCm39) |
Y313C |
probably damaging |
Het |
Rhox3f |
A |
T |
X: 36,763,192 (GRCm39) |
|
probably benign |
Het |
Rpl34 |
A |
G |
3: 130,520,613 (GRCm39) |
|
probably benign |
Het |
Sema4c |
T |
C |
1: 36,595,031 (GRCm39) |
K31E |
probably damaging |
Het |
Septin11 |
T |
C |
5: 93,296,443 (GRCm39) |
|
probably null |
Het |
Slc4a9 |
T |
A |
18: 36,668,498 (GRCm39) |
|
probably null |
Het |
Snrnp200 |
T |
A |
2: 127,059,408 (GRCm39) |
S434T |
probably benign |
Het |
Snx13 |
A |
T |
12: 35,136,940 (GRCm39) |
I134F |
probably damaging |
Het |
Syt2 |
T |
C |
1: 134,675,369 (GRCm39) |
S407P |
probably benign |
Het |
Tbc1d19 |
T |
C |
5: 54,046,755 (GRCm39) |
|
probably null |
Het |
Tbc1d32 |
G |
T |
10: 56,074,638 (GRCm39) |
Q192K |
possibly damaging |
Het |
Ubr4 |
T |
A |
4: 139,148,560 (GRCm39) |
C1681* |
probably null |
Het |
Vmn1r43 |
T |
A |
6: 89,847,043 (GRCm39) |
I148F |
possibly damaging |
Het |
Vwa8 |
T |
C |
14: 79,162,781 (GRCm39) |
V187A |
possibly damaging |
Het |
|
Other mutations in Extl3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00309:Extl3
|
APN |
14 |
65,314,438 (GRCm39) |
missense |
probably benign |
0.08 |
IGL00329:Extl3
|
APN |
14 |
65,313,070 (GRCm39) |
missense |
probably benign |
0.03 |
IGL00959:Extl3
|
APN |
14 |
65,314,361 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01321:Extl3
|
APN |
14 |
65,304,211 (GRCm39) |
missense |
probably benign |
|
IGL01443:Extl3
|
APN |
14 |
65,314,919 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01446:Extl3
|
APN |
14 |
65,314,529 (GRCm39) |
missense |
probably benign |
|
IGL01517:Extl3
|
APN |
14 |
65,314,156 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01955:Extl3
|
APN |
14 |
65,313,415 (GRCm39) |
missense |
probably benign |
|
IGL02073:Extl3
|
APN |
14 |
65,313,788 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02188:Extl3
|
APN |
14 |
65,313,154 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02269:Extl3
|
APN |
14 |
65,315,032 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02961:Extl3
|
APN |
14 |
65,294,408 (GRCm39) |
missense |
possibly damaging |
0.94 |
G1Funyon:Extl3
|
UTSW |
14 |
65,313,733 (GRCm39) |
missense |
probably damaging |
0.98 |
R0532:Extl3
|
UTSW |
14 |
65,315,122 (GRCm39) |
missense |
probably benign |
0.06 |
R0580:Extl3
|
UTSW |
14 |
65,313,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R1395:Extl3
|
UTSW |
14 |
65,314,945 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1495:Extl3
|
UTSW |
14 |
65,313,316 (GRCm39) |
missense |
probably benign |
0.01 |
R1916:Extl3
|
UTSW |
14 |
65,315,071 (GRCm39) |
missense |
probably benign |
0.20 |
R2409:Extl3
|
UTSW |
14 |
65,315,017 (GRCm39) |
missense |
probably benign |
0.02 |
R2484:Extl3
|
UTSW |
14 |
65,313,184 (GRCm39) |
missense |
probably damaging |
1.00 |
R4669:Extl3
|
UTSW |
14 |
65,313,745 (GRCm39) |
missense |
possibly damaging |
0.56 |
R4764:Extl3
|
UTSW |
14 |
65,314,769 (GRCm39) |
missense |
probably benign |
0.01 |
R4845:Extl3
|
UTSW |
14 |
65,315,024 (GRCm39) |
missense |
probably benign |
0.13 |
R4858:Extl3
|
UTSW |
14 |
65,313,443 (GRCm39) |
missense |
probably benign |
0.05 |
R5049:Extl3
|
UTSW |
14 |
65,313,481 (GRCm39) |
missense |
probably benign |
0.00 |
R5439:Extl3
|
UTSW |
14 |
65,292,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R6196:Extl3
|
UTSW |
14 |
65,313,584 (GRCm39) |
missense |
probably benign |
|
R6251:Extl3
|
UTSW |
14 |
65,314,375 (GRCm39) |
missense |
probably damaging |
1.00 |
R6299:Extl3
|
UTSW |
14 |
65,314,121 (GRCm39) |
missense |
probably benign |
|
R6807:Extl3
|
UTSW |
14 |
65,314,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R6939:Extl3
|
UTSW |
14 |
65,304,189 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6975:Extl3
|
UTSW |
14 |
65,304,246 (GRCm39) |
missense |
probably benign |
0.01 |
R7474:Extl3
|
UTSW |
14 |
65,314,090 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7846:Extl3
|
UTSW |
14 |
65,313,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R7860:Extl3
|
UTSW |
14 |
65,314,938 (GRCm39) |
missense |
probably benign |
0.02 |
R8301:Extl3
|
UTSW |
14 |
65,313,733 (GRCm39) |
missense |
probably damaging |
0.98 |
R8922:Extl3
|
UTSW |
14 |
65,292,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R9329:Extl3
|
UTSW |
14 |
65,314,765 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9634:Extl3
|
UTSW |
14 |
65,314,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R9703:Extl3
|
UTSW |
14 |
65,292,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R9801:Extl3
|
UTSW |
14 |
65,314,782 (GRCm39) |
missense |
probably benign |
0.12 |
|
Posted On |
2015-04-16 |