Incidental Mutation 'IGL02961:Extl3'
ID |
365347 |
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 # |
IGL02961
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
65289509-65387304 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 65294408 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 808
(Y808H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153547
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022550]
[ENSMUST00000225633]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022550
AA Change: Y808H
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000022550 Gene: ENSMUSG00000021978 AA Change: Y808H
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 |
possibly damaging
Transcript: ENSMUST00000225633
AA Change: Y808H
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
G |
13: 81,671,731 (GRCm39) |
V2288A |
probably damaging |
Het |
Agbl4 |
T |
A |
4: 110,437,318 (GRCm39) |
N76K |
probably damaging |
Het |
AI182371 |
A |
T |
2: 34,976,124 (GRCm39) |
V258E |
possibly damaging |
Het |
Alg1 |
T |
A |
16: 5,052,861 (GRCm39) |
N80K |
probably benign |
Het |
Ambra1 |
A |
G |
2: 91,741,793 (GRCm39) |
M963V |
possibly damaging |
Het |
Avil |
C |
A |
10: 126,844,175 (GRCm39) |
Q245K |
probably benign |
Het |
Caml |
A |
G |
13: 55,779,695 (GRCm39) |
N256S |
probably benign |
Het |
Ccdc102a |
A |
C |
8: 95,629,978 (GRCm39) |
I521S |
possibly damaging |
Het |
Ccm2l |
A |
G |
2: 152,920,521 (GRCm39) |
T393A |
probably benign |
Het |
Cdh16 |
A |
G |
8: 105,341,837 (GRCm39) |
V91A |
probably damaging |
Het |
Chd7 |
A |
G |
4: 8,751,542 (GRCm39) |
D13G |
probably damaging |
Het |
Chsy1 |
T |
A |
7: 65,821,530 (GRCm39) |
D588E |
probably benign |
Het |
Cilp |
T |
A |
9: 65,185,891 (GRCm39) |
V662E |
possibly damaging |
Het |
Cog8 |
A |
G |
8: 107,782,885 (GRCm39) |
|
probably benign |
Het |
Cpb2 |
T |
C |
14: 75,502,823 (GRCm39) |
V134A |
probably benign |
Het |
Ctcfl |
T |
A |
2: 172,943,712 (GRCm39) |
H546L |
possibly damaging |
Het |
Dclre1c |
A |
G |
2: 3,438,070 (GRCm39) |
D136G |
probably damaging |
Het |
Dnah2 |
T |
A |
11: 69,409,240 (GRCm39) |
E379D |
probably damaging |
Het |
Gm7247 |
T |
A |
14: 51,602,812 (GRCm39) |
N49K |
probably damaging |
Het |
Insr |
T |
C |
8: 3,308,785 (GRCm39) |
I84V |
probably benign |
Het |
Ipo7 |
C |
T |
7: 109,646,223 (GRCm39) |
P541S |
probably benign |
Het |
Kcnc3 |
T |
C |
7: 44,240,916 (GRCm39) |
S203P |
probably damaging |
Het |
Myo5a |
A |
G |
9: 75,122,402 (GRCm39) |
D1732G |
probably benign |
Het |
Or10q3 |
T |
A |
19: 11,847,695 (GRCm39) |
N295I |
probably damaging |
Het |
Or52d1 |
C |
A |
7: 103,756,357 (GRCm39) |
Y290* |
probably null |
Het |
Or5p68 |
T |
C |
7: 107,945,334 (GRCm39) |
I285V |
probably benign |
Het |
Or5w22 |
A |
G |
2: 87,363,028 (GRCm39) |
Y217C |
probably damaging |
Het |
Or6x1 |
T |
C |
9: 40,098,897 (GRCm39) |
V162A |
probably benign |
Het |
Pde3a |
T |
A |
6: 141,405,426 (GRCm39) |
L426* |
probably null |
Het |
Pkd1 |
T |
A |
17: 24,797,089 (GRCm39) |
D8E |
possibly damaging |
Het |
Polr3a |
A |
T |
14: 24,517,108 (GRCm39) |
Y714* |
probably null |
Het |
Pramel16 |
T |
C |
4: 143,675,717 (GRCm39) |
T370A |
probably damaging |
Het |
Prb1c |
A |
T |
6: 132,338,371 (GRCm39) |
F282L |
unknown |
Het |
Rasgrf1 |
T |
C |
9: 89,863,702 (GRCm39) |
V556A |
possibly damaging |
Het |
Rev3l |
T |
C |
10: 39,703,941 (GRCm39) |
Y1996H |
possibly damaging |
Het |
Rttn |
T |
C |
18: 89,071,697 (GRCm39) |
L1248P |
probably damaging |
Het |
Slc11a1 |
T |
C |
1: 74,416,332 (GRCm39) |
L53P |
probably damaging |
Het |
Slc22a27 |
T |
C |
19: 7,903,886 (GRCm39) |
R84G |
probably damaging |
Het |
Sptbn4 |
A |
G |
7: 27,097,392 (GRCm39) |
L1302P |
probably damaging |
Het |
Srm |
T |
C |
4: 148,678,586 (GRCm39) |
V271A |
possibly damaging |
Het |
Sycp2 |
A |
G |
2: 178,022,655 (GRCm39) |
I492T |
probably benign |
Het |
Tmprss13 |
A |
G |
9: 45,256,301 (GRCm39) |
T472A |
probably damaging |
Het |
Togaram1 |
A |
G |
12: 65,013,484 (GRCm39) |
D245G |
probably damaging |
Het |
Vmn1r184 |
A |
T |
7: 25,967,075 (GRCm39) |
I274L |
probably benign |
Het |
Vmn1r21 |
T |
C |
6: 57,820,974 (GRCm39) |
M157V |
probably benign |
Het |
Wdr90 |
C |
A |
17: 26,067,649 (GRCm39) |
E1420* |
probably null |
Het |
Zfp518a |
A |
T |
19: 40,903,462 (GRCm39) |
R1130S |
probably benign |
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 |
IGL02476:Extl3
|
APN |
14 |
65,314,693 (GRCm39) |
missense |
probably benign |
0.05 |
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 |
2015-12-18 |