Incidental Mutation 'IGL00959:Extl3'
| ID |
28972 |
| 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 # |
IGL00959
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
65289509-65387304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 65314361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 274
(V274I)
|
| 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: V274I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000022550
Gene: ENSMUSG00000021978
AA Change: V274I
| 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: V274I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12b |
A |
T |
11: 69,057,069 (GRCm39) |
H430L |
probably damaging |
Het |
| Aox4 |
G |
T |
1: 58,278,333 (GRCm39) |
V443F |
probably damaging |
Het |
| Bmpr2 |
A |
T |
1: 59,854,474 (GRCm39) |
I108F |
possibly damaging |
Het |
| Cflar |
G |
A |
1: 58,768,321 (GRCm39) |
|
probably null |
Het |
| Chchd3 |
A |
G |
6: 32,945,188 (GRCm39) |
V106A |
probably benign |
Het |
| Chl1 |
G |
T |
6: 103,686,211 (GRCm39) |
|
probably null |
Het |
| Clvs2 |
C |
T |
10: 33,404,459 (GRCm39) |
M252I |
probably benign |
Het |
| Cntnap5a |
T |
A |
1: 116,112,057 (GRCm39) |
L449Q |
probably benign |
Het |
| Col6a2 |
T |
A |
10: 76,450,368 (GRCm39) |
I188F |
probably damaging |
Het |
| Cyp2c55 |
A |
G |
19: 39,026,587 (GRCm39) |
D398G |
probably benign |
Het |
| Dennd1b |
T |
C |
1: 139,071,626 (GRCm39) |
|
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,369,484 (GRCm39) |
Y106N |
probably damaging |
Het |
| Dpy19l1 |
A |
T |
9: 24,334,493 (GRCm39) |
|
probably null |
Het |
| Fras1 |
G |
A |
5: 96,929,140 (GRCm39) |
R3848H |
probably damaging |
Het |
| Gm11437 |
A |
C |
11: 84,039,448 (GRCm39) |
|
probably benign |
Het |
| Gss |
T |
A |
2: 155,423,871 (GRCm39) |
D2V |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Ilvbl |
G |
A |
10: 78,419,739 (GRCm39) |
D548N |
probably damaging |
Het |
| Jmjd6 |
A |
T |
11: 116,733,202 (GRCm39) |
D115E |
possibly damaging |
Het |
| Kidins220 |
T |
A |
12: 25,101,132 (GRCm39) |
S1110R |
possibly damaging |
Het |
| Kmt2c |
T |
A |
5: 25,481,227 (GRCm39) |
I4784F |
probably damaging |
Het |
| Mrpl52 |
T |
C |
14: 54,664,494 (GRCm39) |
V11A |
possibly damaging |
Het |
| Myo3b |
A |
G |
2: 70,144,636 (GRCm39) |
Y1036C |
probably damaging |
Het |
| Omp |
T |
C |
7: 97,794,357 (GRCm39) |
D90G |
probably damaging |
Het |
| Or6c2b |
T |
A |
10: 128,947,893 (GRCm39) |
M134L |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,854,086 (GRCm39) |
I541V |
probably benign |
Het |
| Ppp2r1a |
A |
T |
17: 21,181,840 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,665,437 (GRCm39) |
|
probably null |
Het |
| Rock2 |
C |
A |
12: 17,028,056 (GRCm39) |
N1429K |
probably benign |
Het |
| Saxo4 |
A |
T |
19: 10,454,887 (GRCm39) |
|
probably null |
Het |
| Slc25a20 |
T |
G |
9: 108,559,198 (GRCm39) |
M188R |
possibly damaging |
Het |
| Slc28a1 |
T |
C |
7: 80,818,816 (GRCm39) |
|
probably benign |
Het |
| Sult2a6 |
T |
C |
7: 13,988,634 (GRCm39) |
Y42C |
probably damaging |
Het |
| Tgfb2 |
A |
G |
1: 186,436,784 (GRCm39) |
V63A |
probably benign |
Het |
| Ugt2b38 |
A |
T |
5: 87,559,682 (GRCm39) |
N403K |
probably damaging |
Het |
| Vmn2r29 |
A |
G |
7: 7,244,855 (GRCm39) |
W340R |
probably benign |
Het |
| Wnt5a |
C |
T |
14: 28,244,866 (GRCm39) |
T351M |
probably 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 |
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation