Incidental Mutation 'R6975:Extl3'
| ID |
542434 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Extl3
|
| Ensembl Gene |
ENSMUSG00000021978 |
| Gene Name |
exostosin-like glycosyltransferase 3 |
| Synonyms |
2900009G18Rik |
| MMRRC Submission |
045085-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6975 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
65289509-65387304 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65304246 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 721
(E721G)
|
| 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: E721G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000022550
Gene: ENSMUSG00000021978
AA Change: E721G
| 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 |
probably benign
Transcript: ENSMUST00000225633
AA Change: E721G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.9%
|
| Validation Efficiency |
100% (46/46) |
| 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 |
|---|
| 2010315B03Rik |
T |
A |
9: 124,056,687 (GRCm39) |
H100L |
probably benign |
Het |
| Apaf1 |
A |
T |
10: 90,856,596 (GRCm39) |
H870Q |
probably damaging |
Het |
| Aplf |
T |
C |
6: 87,623,068 (GRCm39) |
D358G |
probably damaging |
Het |
| Atp10a |
A |
T |
7: 58,423,733 (GRCm39) |
S233C |
probably damaging |
Het |
| Ccdc158 |
A |
T |
5: 92,814,579 (GRCm39) |
Y82* |
probably null |
Het |
| Clba1 |
C |
T |
12: 112,773,217 (GRCm39) |
P70L |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,491,600 (GRCm39) |
D149G |
probably damaging |
Het |
| Cyp4f14 |
T |
C |
17: 33,133,608 (GRCm39) |
T83A |
probably benign |
Het |
| Endog |
A |
G |
2: 30,061,648 (GRCm39) |
|
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gcn1 |
A |
G |
5: 115,751,518 (GRCm39) |
H2033R |
probably damaging |
Het |
| Gm12830 |
T |
C |
4: 114,702,246 (GRCm39) |
M136T |
|
Het |
| Gm6871 |
T |
C |
7: 41,196,202 (GRCm39) |
|
silent |
Het |
| Hoxc4 |
T |
C |
15: 102,944,098 (GRCm39) |
S159P |
probably damaging |
Het |
| Ift70a2 |
T |
C |
2: 75,806,752 (GRCm39) |
R587G |
probably damaging |
Het |
| Ift70a2 |
A |
T |
2: 75,808,004 (GRCm39) |
Y169* |
probably null |
Het |
| Igf2bp2 |
T |
A |
16: 21,880,611 (GRCm39) |
Q494L |
probably null |
Het |
| Igfn1 |
T |
A |
1: 135,896,183 (GRCm39) |
N1461I |
probably damaging |
Het |
| Il23r |
C |
A |
6: 67,400,352 (GRCm39) |
K659N |
probably damaging |
Het |
| Map3k11 |
A |
G |
19: 5,740,755 (GRCm39) |
S161G |
possibly damaging |
Het |
| Naip6 |
T |
A |
13: 100,452,773 (GRCm39) |
Q96L |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,642,057 (GRCm39) |
E802G |
probably damaging |
Het |
| Nutm1 |
G |
A |
2: 112,086,563 (GRCm39) |
S56F |
probably damaging |
Het |
| Or10x4 |
T |
A |
1: 174,219,243 (GRCm39) |
S203T |
probably benign |
Het |
| Or51a24 |
T |
C |
7: 103,734,002 (GRCm39) |
N95S |
probably benign |
Het |
| Otop2 |
A |
T |
11: 115,220,152 (GRCm39) |
S331C |
possibly damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,387,539 (GRCm39) |
R1818G |
possibly damaging |
Het |
| Pms1 |
A |
T |
1: 53,228,590 (GRCm39) |
I886N |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,588,068 (GRCm39) |
Y1107C |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,611,062 (GRCm39) |
T362A |
probably damaging |
Het |
| Rarb |
A |
G |
14: 16,574,942 (GRCm38) |
S25P |
possibly damaging |
Het |
| Rnf121 |
A |
T |
7: 101,673,218 (GRCm39) |
|
probably null |
Het |
| Sae1 |
T |
C |
7: 16,070,712 (GRCm39) |
Y266C |
probably damaging |
Het |
| Scpep1 |
A |
T |
11: 88,838,031 (GRCm39) |
F85L |
probably damaging |
Het |
| Shank1 |
T |
A |
7: 43,962,530 (GRCm39) |
|
probably null |
Het |
| Slc40a1 |
T |
C |
1: 45,948,652 (GRCm39) |
K543E |
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 94,842,499 (GRCm39) |
Y350C |
probably damaging |
Het |
| Sun2 |
G |
T |
15: 79,618,420 (GRCm39) |
Y246* |
probably null |
Het |
| Tas1r2 |
T |
A |
4: 139,397,031 (GRCm39) |
I790N |
probably damaging |
Het |
| Tmtc2 |
T |
C |
10: 105,158,863 (GRCm39) |
T577A |
probably benign |
Het |
| Trim24 |
T |
G |
6: 37,896,427 (GRCm39) |
|
probably null |
Het |
| Ttc12 |
A |
G |
9: 49,349,718 (GRCm39) |
V693A |
probably benign |
Het |
| Zbtb22 |
A |
C |
17: 34,136,938 (GRCm39) |
D361A |
probably damaging |
Het |
| Zfp276 |
T |
A |
8: 123,983,570 (GRCm39) |
C324* |
probably null |
Het |
| Zfp536 |
A |
G |
7: 37,267,952 (GRCm39) |
L488P |
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 |
|
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 |
|
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'- TGGCAGCTGGGAAGTTCAAG -3'
(R):5'- TGATGGTTGGTGAGATCCATCC -3'
Sequencing Primer
(F):5'- CAGCTGGGAAGTTCAAGTGCTTG -3'
(R):5'- GTGAGATCCATCCCCCTGTGTG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation