Incidental Mutation 'IGL01517:Extl3'
| ID |
90434 |
| 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 # |
IGL01517
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
65289509-65387304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 65314156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 342
(L342H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022550]
[ENSMUST00000225633]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022550
AA Change: L342H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022550
Gene: ENSMUSG00000021978
AA Change: L342H
| 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 damaging
Transcript: ENSMUST00000225633
AA Change: L342H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
A |
T |
13: 104,526,700 (GRCm39) |
|
probably benign |
Het |
| Arpc1b |
A |
G |
5: 145,064,679 (GRCm39) |
|
probably benign |
Het |
| Ccdc54 |
G |
A |
16: 50,410,280 (GRCm39) |
L329F |
possibly damaging |
Het |
| Cdc42bpg |
G |
A |
19: 6,368,467 (GRCm39) |
R1055H |
probably damaging |
Het |
| Cylc1 |
A |
G |
X: 110,162,799 (GRCm39) |
T29A |
possibly damaging |
Het |
| Ddx50 |
T |
C |
10: 62,482,911 (GRCm39) |
T53A |
probably benign |
Het |
| Dmap1 |
G |
A |
4: 117,533,206 (GRCm39) |
R283C |
probably damaging |
Het |
| Gjb3 |
A |
C |
4: 127,219,914 (GRCm39) |
I206S |
probably damaging |
Het |
| Gphn |
T |
A |
12: 78,423,148 (GRCm39) |
I53K |
probably damaging |
Het |
| Gpr22 |
C |
T |
12: 31,758,709 (GRCm39) |
|
probably benign |
Het |
| Inpp5b |
T |
A |
4: 124,676,229 (GRCm39) |
C362S |
probably benign |
Het |
| Iqgap3 |
C |
A |
3: 88,016,703 (GRCm39) |
Q1062K |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,412,089 (GRCm39) |
|
probably benign |
Het |
| Ltbp3 |
A |
G |
19: 5,807,760 (GRCm39) |
D1167G |
possibly damaging |
Het |
| Mpo |
A |
G |
11: 87,686,647 (GRCm39) |
N65D |
possibly damaging |
Het |
| Mrpl2 |
A |
G |
17: 46,960,909 (GRCm39) |
R268G |
probably damaging |
Het |
| Nfkbia |
C |
T |
12: 55,537,430 (GRCm39) |
A220T |
probably damaging |
Het |
| Nlrc3 |
T |
A |
16: 3,765,351 (GRCm39) |
I1091F |
probably damaging |
Het |
| Notch2 |
T |
A |
3: 98,045,971 (GRCm39) |
S1674R |
probably benign |
Het |
| Or10h28 |
T |
A |
17: 33,488,629 (GRCm39) |
N310K |
probably benign |
Het |
| Or14a257 |
T |
C |
7: 86,138,765 (GRCm39) |
|
probably benign |
Het |
| Pde8b |
A |
G |
13: 95,237,395 (GRCm39) |
|
probably null |
Het |
| Pla2r1 |
A |
G |
2: 60,334,597 (GRCm39) |
Y392H |
probably damaging |
Het |
| Plekhm1 |
A |
T |
11: 103,285,609 (GRCm39) |
N275K |
possibly damaging |
Het |
| Prdm16 |
T |
C |
4: 154,412,882 (GRCm39) |
H1041R |
probably damaging |
Het |
| Rapsn |
C |
A |
2: 90,866,963 (GRCm39) |
N88K |
probably damaging |
Het |
| Rasef |
T |
A |
4: 73,688,059 (GRCm39) |
Q31H |
probably benign |
Het |
| Rpl28-ps4 |
T |
C |
6: 117,190,813 (GRCm39) |
|
noncoding transcript |
Het |
| Trpc7 |
T |
C |
13: 57,008,878 (GRCm39) |
Y263C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,577,940 (GRCm39) |
T24318A |
probably damaging |
Het |
| Vmn1r35 |
T |
C |
6: 66,656,434 (GRCm39) |
T79A |
probably benign |
Het |
| Vmn2r100 |
T |
A |
17: 19,742,225 (GRCm39) |
S200T |
probably benign |
Het |
| Wnt9b |
A |
G |
11: 103,621,907 (GRCm39) |
V250A |
probably benign |
Het |
| Zyg11a |
T |
A |
4: 108,058,391 (GRCm39) |
K383M |
probably null |
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 |
|
|
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 |
|
IGL02476:Extl3
|
APN |
14 |
65,314,693 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
2013-12-09 |
Incidental Mutation