Incidental Mutation 'R9634:Extl3'
ID |
725728 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Extl3
|
Ensembl Gene |
ENSMUSG00000021978 |
Gene Name |
exostosin-like glycosyltransferase 3 |
Synonyms |
2900009G18Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9634 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
65289509-65387304 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 65314919 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 88
(S88T)
|
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: S88T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000022550 Gene: ENSMUSG00000021978 AA Change: S88T
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: S88T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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 |
Acaca |
C |
A |
11: 84,184,816 (GRCm39) |
D1277E |
probably benign |
Het |
Anapc7 |
T |
C |
5: 122,560,689 (GRCm39) |
S17P |
probably damaging |
Het |
Atad2b |
T |
C |
12: 5,060,332 (GRCm39) |
F909S |
probably damaging |
Het |
Ccnb1 |
G |
A |
13: 100,920,112 (GRCm39) |
A133V |
probably benign |
Het |
Chd7 |
A |
G |
4: 8,832,499 (GRCm39) |
T1125A |
probably damaging |
Het |
Cyc1 |
A |
G |
15: 76,227,794 (GRCm39) |
T11A |
probably benign |
Het |
Ddx59 |
G |
A |
1: 136,347,214 (GRCm39) |
A291T |
probably damaging |
Het |
Dgkg |
T |
A |
16: 22,338,387 (GRCm39) |
|
probably null |
Het |
Dock8 |
A |
G |
19: 25,169,585 (GRCm39) |
D1952G |
probably damaging |
Het |
Dpf3 |
A |
G |
12: 83,378,635 (GRCm39) |
|
probably null |
Het |
Evi5 |
T |
C |
5: 107,964,663 (GRCm39) |
I340V |
probably benign |
Het |
Fktn |
A |
G |
4: 53,761,230 (GRCm39) |
H410R |
probably benign |
Het |
Fyb2 |
A |
T |
4: 104,856,579 (GRCm39) |
K596* |
probably null |
Het |
Gas2l3 |
C |
T |
10: 89,249,943 (GRCm39) |
A392T |
probably benign |
Het |
Gbp7 |
T |
A |
3: 142,242,115 (GRCm39) |
V83E |
probably benign |
Het |
Gja10 |
A |
G |
4: 32,601,877 (GRCm39) |
V169A |
probably damaging |
Het |
Gnao1 |
A |
G |
8: 94,682,723 (GRCm39) |
H303R |
probably benign |
Het |
Iars2 |
A |
G |
1: 185,027,727 (GRCm39) |
*734R |
probably null |
Het |
Il2ra |
C |
T |
2: 11,685,227 (GRCm39) |
R188* |
probably null |
Het |
Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
Ints3 |
T |
C |
3: 90,318,606 (GRCm39) |
T210A |
|
Het |
Itpkc |
A |
G |
7: 26,913,880 (GRCm39) |
I527T |
probably benign |
Het |
Kcnrg |
CACAACAA |
CACAA |
14: 61,845,009 (GRCm39) |
|
probably benign |
Het |
Loxl3 |
C |
T |
6: 83,027,835 (GRCm39) |
T749I |
probably benign |
Het |
Lrp1b |
C |
T |
2: 41,135,951 (GRCm39) |
|
probably null |
Het |
Ncapg2 |
T |
A |
12: 116,379,077 (GRCm39) |
H190Q |
probably damaging |
Het |
Nkain2 |
G |
A |
10: 32,766,262 (GRCm39) |
P66L |
unknown |
Het |
Nubpl |
T |
C |
12: 52,349,494 (GRCm39) |
F242L |
probably benign |
Het |
Or4f4-ps1 |
T |
C |
2: 111,330,131 (GRCm39) |
V178A |
possibly damaging |
Het |
Or4x11 |
T |
C |
2: 89,867,907 (GRCm39) |
S215P |
probably damaging |
Het |
Or8b51 |
A |
G |
9: 38,568,869 (GRCm39) |
I273T |
probably benign |
Het |
Paip2b |
T |
C |
6: 83,787,023 (GRCm39) |
D71G |
probably damaging |
Het |
Plch1 |
T |
C |
3: 63,605,152 (GRCm39) |
E1584G |
probably damaging |
Het |
Poglut2 |
T |
C |
1: 44,152,196 (GRCm39) |
D271G |
probably damaging |
Het |
Prkag2 |
A |
G |
5: 25,074,238 (GRCm39) |
I489T |
possibly damaging |
Het |
Ptpn2 |
C |
T |
18: 67,808,789 (GRCm39) |
|
probably null |
Het |
Rims3 |
G |
A |
4: 120,748,517 (GRCm39) |
R246H |
possibly damaging |
Het |
Sorl1 |
T |
G |
9: 41,907,590 (GRCm39) |
T1466P |
probably benign |
Het |
Tbl3 |
T |
C |
17: 24,926,531 (GRCm39) |
E3G |
probably benign |
Het |
Tex2 |
A |
G |
11: 106,458,978 (GRCm39) |
S151P |
unknown |
Het |
Tmem260 |
C |
A |
14: 48,709,816 (GRCm39) |
A123E |
probably damaging |
Het |
Trim45 |
T |
C |
3: 100,839,306 (GRCm39) |
V736A |
unknown |
Het |
Vps8 |
T |
C |
16: 21,372,893 (GRCm39) |
L1033P |
probably damaging |
Het |
Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
Wwc2 |
GCC |
GCCC |
8: 48,304,959 (GRCm39) |
|
probably null |
Het |
Ythdc2 |
A |
G |
18: 45,006,037 (GRCm39) |
T1177A |
probably benign |
Het |
Zfp36l2 |
A |
G |
17: 84,494,056 (GRCm39) |
Y194H |
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 |
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 |
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'- CCTTGTAGGAGTGCTCTGTC -3'
(R):5'- TATACCATGTTGCGGAATGGG -3'
Sequencing Primer
(F):5'- CTGGCTAATGACATTCTTGAGC -3'
(R):5'- AACGGTGGTCAGACCTGTATGC -3'
|
Posted On |
2022-09-12 |