Incidental Mutation 'IGL01955:Extl3'
| ID |
181403 |
| 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 # |
IGL01955
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
65289509-65387304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65313415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 589
(Y589F)
|
| 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: Y589F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022550
Gene: ENSMUSG00000021978
AA Change: Y589F
| 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: Y589F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
G |
T |
7: 29,273,420 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc1 |
T |
A |
16: 14,228,659 (GRCm39) |
I302N |
probably damaging |
Het |
| Abhd16a |
A |
G |
17: 35,320,316 (GRCm39) |
S394G |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,330,902 (GRCm39) |
Y71C |
probably damaging |
Het |
| Apol8 |
A |
G |
15: 77,633,899 (GRCm39) |
C226R |
probably benign |
Het |
| Bbs7 |
A |
G |
3: 36,664,471 (GRCm39) |
S45P |
probably benign |
Het |
| Cacna1b |
T |
C |
2: 24,529,149 (GRCm39) |
Y1575C |
probably damaging |
Het |
| Cckbr |
T |
A |
7: 105,084,169 (GRCm39) |
V301E |
probably damaging |
Het |
| Cwc27 |
A |
G |
13: 104,944,245 (GRCm39) |
Y79H |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,406,798 (GRCm39) |
T2236A |
probably benign |
Het |
| Ddx50 |
T |
C |
10: 62,482,962 (GRCm39) |
R36G |
probably benign |
Het |
| Gab2 |
T |
C |
7: 96,953,430 (GRCm39) |
V601A |
probably damaging |
Het |
| Hsd3b1 |
T |
A |
3: 98,760,463 (GRCm39) |
N176I |
probably benign |
Het |
| L3mbtl3 |
A |
T |
10: 26,194,336 (GRCm39) |
S420R |
unknown |
Het |
| Odad2 |
C |
T |
18: 7,127,291 (GRCm39) |
R974Q |
possibly damaging |
Het |
| Or2ak6 |
T |
C |
11: 58,592,955 (GRCm39) |
S143P |
probably damaging |
Het |
| Or52e2 |
T |
A |
7: 102,804,061 (GRCm39) |
K298* |
probably null |
Het |
| Or5g23 |
A |
G |
2: 85,439,051 (GRCm39) |
F68L |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,632,674 (GRCm39) |
D974G |
probably damaging |
Het |
| Ptges3l |
T |
C |
11: 101,314,644 (GRCm39) |
K13E |
possibly damaging |
Het |
| Ptprk |
A |
G |
10: 28,471,861 (GRCm39) |
|
probably benign |
Het |
| Rassf3 |
T |
C |
10: 121,253,027 (GRCm39) |
Y60C |
probably damaging |
Het |
| Rnf157 |
T |
C |
11: 116,250,722 (GRCm39) |
T160A |
probably damaging |
Het |
| Secisbp2l |
A |
G |
2: 125,585,732 (GRCm39) |
|
probably null |
Het |
| Setd2 |
A |
G |
9: 110,378,386 (GRCm39) |
T734A |
probably benign |
Het |
| Skint5 |
A |
G |
4: 113,480,933 (GRCm39) |
|
probably null |
Het |
| Slc38a9 |
A |
G |
13: 112,831,952 (GRCm39) |
|
probably benign |
Het |
| Snx17 |
T |
G |
5: 31,354,426 (GRCm39) |
|
probably benign |
Het |
| Tas2r113 |
A |
T |
6: 132,870,817 (GRCm39) |
M282L |
probably benign |
Het |
| Tbc1d31 |
A |
G |
15: 57,805,766 (GRCm39) |
N404D |
probably benign |
Het |
| Tmem63c |
A |
T |
12: 87,123,982 (GRCm39) |
I487F |
probably benign |
Het |
| Tpm3 |
A |
G |
3: 89,995,742 (GRCm39) |
M164V |
probably benign |
Het |
| Trafd1 |
G |
T |
5: 121,513,217 (GRCm39) |
N340K |
probably benign |
Het |
| Trpv4 |
T |
A |
5: 114,760,743 (GRCm39) |
K863* |
probably null |
Het |
| Ttn |
A |
T |
2: 76,627,696 (GRCm39) |
M13003K |
possibly damaging |
Het |
| Tulp1 |
G |
A |
17: 28,575,398 (GRCm39) |
T103M |
probably damaging |
Het |
| Unc5b |
T |
C |
10: 60,614,034 (GRCm39) |
T272A |
probably benign |
Het |
| Vmn1r82 |
A |
C |
7: 12,039,650 (GRCm39) |
|
probably null |
Het |
| Zc3h7b |
A |
G |
15: 81,676,205 (GRCm39) |
N704D |
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 |
|
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 |
2014-05-07 |
Incidental Mutation