Incidental Mutation 'IGL02269:Extl3'
| ID |
287046 |
| 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 # |
IGL02269
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
65289509-65387304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65315032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 50
(Y50C)
|
| 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: Y50C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022550
Gene: ENSMUSG00000021978
AA Change: Y50C
| 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: Y50C
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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933414I15Rik |
A |
G |
11: 50,833,425 (GRCm39) |
V59A |
unknown |
Het |
| A2ml1 |
C |
A |
6: 128,530,301 (GRCm39) |
|
probably benign |
Het |
| Akap13 |
G |
A |
7: 75,252,659 (GRCm39) |
R263H |
probably benign |
Het |
| B3galt5 |
A |
G |
16: 96,116,730 (GRCm39) |
D121G |
possibly damaging |
Het |
| Becn1 |
A |
G |
11: 101,182,361 (GRCm39) |
|
probably benign |
Het |
| Carmil1 |
A |
T |
13: 24,339,393 (GRCm39) |
L150* |
probably null |
Het |
| Cep170 |
A |
T |
1: 176,596,932 (GRCm39) |
M475K |
probably benign |
Het |
| Cyp24a1 |
C |
T |
2: 170,338,492 (GRCm39) |
G68D |
probably damaging |
Het |
| Cyp3a44 |
A |
T |
5: 145,742,547 (GRCm39) |
I18N |
probably benign |
Het |
| Dmrt2 |
T |
C |
19: 25,655,823 (GRCm39) |
V474A |
probably benign |
Het |
| Dtnb |
A |
G |
12: 3,646,691 (GRCm39) |
D64G |
probably damaging |
Het |
| Epb41l3 |
T |
C |
17: 69,554,568 (GRCm39) |
S223P |
probably damaging |
Het |
| Ephb2 |
A |
G |
4: 136,498,360 (GRCm39) |
Y240H |
possibly damaging |
Het |
| Fat3 |
A |
C |
9: 15,826,873 (GRCm39) |
S4360A |
possibly damaging |
Het |
| Fbxo9 |
A |
T |
9: 77,994,835 (GRCm39) |
V230E |
probably damaging |
Het |
| Frmd4a |
T |
C |
2: 4,609,045 (GRCm39) |
M971T |
probably benign |
Het |
| Gm7275 |
A |
G |
16: 47,894,185 (GRCm39) |
|
noncoding transcript |
Het |
| Hyal6 |
C |
T |
6: 24,740,858 (GRCm39) |
T337I |
probably damaging |
Het |
| Obsl1 |
C |
T |
1: 75,464,357 (GRCm39) |
V1650M |
probably damaging |
Het |
| Or1j13 |
A |
T |
2: 36,369,579 (GRCm39) |
S188T |
possibly damaging |
Het |
| Or52z14 |
T |
A |
7: 103,253,089 (GRCm39) |
I76N |
probably damaging |
Het |
| Or7e169 |
A |
T |
9: 19,757,024 (GRCm39) |
I297N |
possibly damaging |
Het |
| Or8c8 |
A |
T |
9: 38,165,232 (GRCm39) |
D173V |
possibly damaging |
Het |
| Pcdh7 |
A |
C |
5: 58,070,664 (GRCm39) |
E1114A |
probably damaging |
Het |
| Pde8a |
C |
T |
7: 80,958,550 (GRCm39) |
|
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,667,731 (GRCm39) |
S628C |
probably damaging |
Het |
| Pear1 |
C |
T |
3: 87,663,571 (GRCm39) |
G376S |
probably damaging |
Het |
| Plekha6 |
C |
T |
1: 133,215,587 (GRCm39) |
T644M |
possibly damaging |
Het |
| Plpp1 |
T |
A |
13: 112,993,526 (GRCm39) |
C153S |
probably damaging |
Het |
| Ptpn3 |
G |
A |
4: 57,197,510 (GRCm39) |
T793M |
possibly damaging |
Het |
| Rdh13 |
A |
T |
7: 4,448,497 (GRCm39) |
L5Q |
possibly damaging |
Het |
| Rimbp2 |
G |
T |
5: 128,851,359 (GRCm39) |
D862E |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Scamp1 |
C |
T |
13: 94,368,694 (GRCm39) |
|
probably benign |
Het |
| Scamp3 |
A |
G |
3: 89,088,041 (GRCm39) |
T178A |
probably benign |
Het |
| Sh3tc1 |
A |
G |
5: 35,863,628 (GRCm39) |
V853A |
probably benign |
Het |
| Snrnp200 |
C |
T |
2: 127,071,911 (GRCm39) |
T1197M |
possibly damaging |
Het |
| Sult3a1 |
T |
C |
10: 33,755,259 (GRCm39) |
F275L |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,473,029 (GRCm39) |
I905F |
probably damaging |
Het |
| Tgm3 |
T |
A |
2: 129,866,438 (GRCm39) |
S119T |
probably benign |
Het |
| Tmem131l |
A |
T |
3: 83,845,357 (GRCm39) |
D424E |
possibly damaging |
Het |
| Tmem45b |
G |
T |
9: 31,339,279 (GRCm39) |
C145* |
probably null |
Het |
| Unc5c |
G |
A |
3: 141,494,743 (GRCm39) |
R352H |
probably damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,234,343 (GRCm39) |
L623P |
probably damaging |
Het |
| Vmn2r68 |
T |
C |
7: 84,870,947 (GRCm39) |
M779V |
possibly damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,309,393 (GRCm39) |
N902S |
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 |
|
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 |
2015-04-16 |
Incidental Mutation