Incidental Mutation 'R0580:Extl3'
| ID |
56404 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Extl3
|
| Ensembl Gene |
ENSMUSG00000021978 |
| Gene Name |
exostosin-like glycosyltransferase 3 |
| Synonyms |
2900009G18Rik |
| MMRRC Submission |
038770-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0580 (G1)
|
| Quality Score |
135 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
65289509-65387304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65313178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 668
(L668P)
|
| 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: L668P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022550
Gene: ENSMUSG00000021978
AA Change: L668P
| 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: L668P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 93.7%
|
| Validation Efficiency |
95% (40/42) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
A |
3: 59,784,470 (GRCm39) |
D314E |
probably damaging |
Het |
| Abcc10 |
C |
T |
17: 46,616,882 (GRCm39) |
|
probably null |
Het |
| Adgrg5 |
T |
C |
8: 95,663,972 (GRCm39) |
|
probably null |
Het |
| Akap12 |
A |
T |
10: 4,304,741 (GRCm39) |
D517V |
possibly damaging |
Het |
| Arhgap23 |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
11: 97,337,362 (GRCm39) |
|
probably null |
Het |
| Bpi |
A |
T |
2: 158,100,215 (GRCm39) |
M1L |
probably damaging |
Het |
| Carm1 |
C |
T |
9: 21,494,880 (GRCm39) |
P339S |
probably damaging |
Het |
| Chchd3 |
A |
C |
6: 32,870,325 (GRCm39) |
|
probably null |
Het |
| Chd9 |
T |
C |
8: 91,721,191 (GRCm39) |
V520A |
possibly damaging |
Het |
| Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
| Col10a1 |
A |
G |
10: 34,270,948 (GRCm39) |
R307G |
probably benign |
Het |
| Cpeb3 |
T |
C |
19: 37,151,435 (GRCm39) |
T314A |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 15,960,528 (GRCm39) |
Y3296N |
probably damaging |
Het |
| Dtx2 |
A |
T |
5: 136,061,180 (GRCm39) |
T521S |
probably damaging |
Het |
| Ext2 |
A |
T |
2: 93,626,070 (GRCm39) |
V330E |
probably benign |
Het |
| Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
| Grm8 |
A |
G |
6: 27,761,370 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,788,539 (GRCm39) |
V1763D |
probably damaging |
Het |
| Ino80 |
G |
A |
2: 119,213,962 (GRCm39) |
P1203S |
probably damaging |
Het |
| Iqce |
A |
G |
5: 140,651,156 (GRCm39) |
F768L |
possibly damaging |
Het |
| Kntc1 |
G |
A |
5: 123,941,732 (GRCm39) |
V1809I |
probably benign |
Het |
| Lyzl1 |
A |
C |
18: 4,181,134 (GRCm39) |
T58P |
probably damaging |
Het |
| Mlxipl |
A |
G |
5: 135,152,829 (GRCm39) |
T287A |
probably benign |
Het |
| Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
| Net1 |
A |
G |
13: 3,936,612 (GRCm39) |
Y264H |
probably damaging |
Het |
| Nnmt |
T |
C |
9: 48,503,600 (GRCm39) |
D142G |
probably damaging |
Het |
| Nod2 |
T |
A |
8: 89,391,034 (GRCm39) |
I432N |
probably damaging |
Het |
| Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
| Or2y1g |
T |
A |
11: 49,171,449 (GRCm39) |
I158N |
probably damaging |
Het |
| Or6b6 |
A |
G |
7: 106,571,447 (GRCm39) |
Y35H |
probably damaging |
Het |
| Pign |
A |
C |
1: 105,519,419 (GRCm39) |
I501S |
probably benign |
Het |
| Scgb2b19 |
A |
T |
7: 32,977,995 (GRCm39) |
S101T |
probably benign |
Het |
| Slc7a5 |
A |
T |
8: 122,611,855 (GRCm39) |
M391K |
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,897,587 (GRCm39) |
R1217G |
probably damaging |
Het |
| Srgap2 |
A |
G |
1: 131,277,239 (GRCm39) |
V336A |
possibly damaging |
Het |
| Srsf11 |
C |
T |
3: 157,717,704 (GRCm39) |
|
probably benign |
Het |
| Syt10 |
A |
T |
15: 89,711,379 (GRCm39) |
D51E |
probably benign |
Het |
| Vmn2r96 |
T |
C |
17: 18,802,900 (GRCm39) |
V270A |
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 |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGGCACACATGGGAAGGCAC -3'
(R):5'- AGACTGTTACCGTGGCTGGAACTC -3'
Sequencing Primer
(F):5'- cgcacacacacacagagg -3'
(R):5'- TGGCTGGAACTCTGCCC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation