Incidental Mutation 'R5439:Extl3'
ID |
428546 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Extl3
|
Ensembl Gene |
ENSMUSG00000021978 |
Gene Name |
exostosin-like glycosyltransferase 3 |
Synonyms |
2900009G18Rik |
MMRRC Submission |
043004-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5439 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
65289509-65387304 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 65292075 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 916
(F916S)
|
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: F916S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022550 Gene: ENSMUSG00000021978 AA Change: F916S
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 damaging
Transcript: ENSMUST00000225633
AA Change: F916S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm5 |
A |
T |
4: 144,504,683 (GRCm39) |
I156N |
probably damaging |
Het |
Abca1 |
C |
A |
4: 53,042,381 (GRCm39) |
R1897L |
possibly damaging |
Het |
Ablim2 |
A |
G |
5: 36,015,170 (GRCm39) |
K461E |
probably damaging |
Het |
Acss3 |
A |
T |
10: 106,773,008 (GRCm39) |
Y659* |
probably null |
Het |
Actr8 |
T |
G |
14: 29,708,952 (GRCm39) |
L253R |
probably damaging |
Het |
Arid4b |
A |
G |
13: 14,362,281 (GRCm39) |
K915R |
probably damaging |
Het |
C3 |
T |
C |
17: 57,511,502 (GRCm39) |
E1560G |
probably benign |
Het |
Cacna1c |
A |
T |
6: 118,631,333 (GRCm39) |
I1013N |
probably damaging |
Het |
Cep83 |
G |
A |
10: 94,625,600 (GRCm39) |
R670H |
probably benign |
Het |
Col19a1 |
T |
A |
1: 24,332,193 (GRCm39) |
D870V |
probably damaging |
Het |
Ddr2 |
A |
G |
1: 169,832,298 (GRCm39) |
V164A |
possibly damaging |
Het |
Dnaaf10 |
A |
G |
11: 17,162,031 (GRCm39) |
D23G |
possibly damaging |
Het |
Donson |
A |
T |
16: 91,476,814 (GRCm39) |
V549E |
probably damaging |
Het |
Egflam |
C |
T |
15: 7,254,144 (GRCm39) |
G824R |
probably damaging |
Het |
Fam110c |
A |
G |
12: 31,124,406 (GRCm39) |
M123V |
unknown |
Het |
G3bp1 |
A |
T |
11: 55,388,813 (GRCm39) |
I342F |
probably damaging |
Het |
Golgb1 |
A |
G |
16: 36,720,870 (GRCm39) |
N409D |
probably benign |
Het |
Grin2b |
C |
T |
6: 135,713,304 (GRCm39) |
G859D |
probably damaging |
Het |
Hspb1 |
A |
T |
5: 135,918,186 (GRCm39) |
T178S |
probably benign |
Het |
Iigp1 |
A |
G |
18: 60,523,329 (GRCm39) |
Y149C |
probably damaging |
Het |
Il22 |
G |
T |
10: 118,045,366 (GRCm39) |
G159* |
probably null |
Het |
Jcad |
T |
C |
18: 4,675,790 (GRCm39) |
F1184S |
probably damaging |
Het |
Kcnj2 |
G |
T |
11: 110,963,057 (GRCm39) |
V150L |
probably damaging |
Het |
Kifc1 |
C |
T |
17: 34,105,639 (GRCm39) |
R56Q |
probably damaging |
Het |
Lce1h |
A |
G |
3: 92,671,027 (GRCm39) |
S42P |
unknown |
Het |
Lrp4 |
C |
A |
2: 91,327,418 (GRCm39) |
D1471E |
probably benign |
Het |
Lrrc3 |
C |
A |
10: 77,737,299 (GRCm39) |
V46L |
probably benign |
Het |
Mcf2l |
G |
A |
8: 12,976,646 (GRCm39) |
A2T |
possibly damaging |
Het |
Med12l |
G |
A |
3: 59,170,634 (GRCm39) |
C1673Y |
probably null |
Het |
Nckap1 |
T |
C |
2: 80,343,034 (GRCm39) |
E955G |
possibly damaging |
Het |
Ndufs3 |
T |
A |
2: 90,732,690 (GRCm39) |
|
probably null |
Het |
Nkx6-1 |
A |
G |
5: 101,809,698 (GRCm39) |
|
probably null |
Het |
Obscn |
C |
A |
11: 58,890,954 (GRCm39) |
E1713* |
probably null |
Het |
Or10ak12 |
G |
A |
4: 118,666,560 (GRCm39) |
T167I |
possibly damaging |
Het |
Or10g1b |
A |
G |
14: 52,627,582 (GRCm39) |
F216S |
probably damaging |
Het |
Or10n1 |
A |
G |
9: 39,524,916 (GRCm39) |
T18A |
probably benign |
Het |
Or2n1 |
T |
A |
17: 38,486,917 (GRCm39) |
|
probably null |
Het |
Or6n1 |
A |
G |
1: 173,917,541 (GRCm39) |
R312G |
probably benign |
Het |
Or7e165 |
A |
C |
9: 19,695,161 (GRCm39) |
H244P |
probably damaging |
Het |
Or8c15 |
A |
G |
9: 38,121,050 (GRCm39) |
T234A |
probably benign |
Het |
Osbpl5 |
A |
G |
7: 143,295,433 (GRCm39) |
F10L |
possibly damaging |
Het |
Plvap |
A |
C |
8: 71,964,095 (GRCm39) |
I89S |
probably damaging |
Het |
Ppp2r2a |
A |
G |
14: 67,259,772 (GRCm39) |
V308A |
possibly damaging |
Het |
Ppp2r5e |
T |
C |
12: 75,540,250 (GRCm39) |
S132G |
probably benign |
Het |
Pum3 |
G |
T |
19: 27,389,659 (GRCm39) |
Q398K |
probably benign |
Het |
Ralgapa2 |
T |
C |
2: 146,184,430 (GRCm39) |
T1526A |
probably benign |
Het |
Sh3tc2 |
T |
A |
18: 62,122,704 (GRCm39) |
Y488* |
probably null |
Het |
Spmip7 |
A |
T |
11: 11,440,244 (GRCm39) |
R8S |
possibly damaging |
Het |
Sqle |
A |
G |
15: 59,202,753 (GRCm39) |
Y537C |
probably benign |
Het |
Sult2a8 |
T |
G |
7: 14,159,439 (GRCm39) |
K60T |
probably damaging |
Het |
Tex15 |
T |
C |
8: 34,064,199 (GRCm39) |
S1210P |
possibly damaging |
Het |
Thumpd3 |
A |
G |
6: 113,043,825 (GRCm39) |
|
silent |
Het |
Timeless |
A |
G |
10: 128,077,604 (GRCm39) |
D228G |
probably damaging |
Het |
Trim31 |
A |
T |
17: 37,216,797 (GRCm39) |
|
probably null |
Het |
Ttc39c |
A |
T |
18: 12,828,428 (GRCm39) |
D196V |
possibly damaging |
Het |
Wbp4 |
C |
A |
14: 79,709,837 (GRCm39) |
V133L |
possibly damaging |
Het |
Zfp354c |
G |
T |
11: 50,706,597 (GRCm39) |
D159E |
probably benign |
Het |
Zfp940 |
C |
A |
7: 29,544,858 (GRCm39) |
D350Y |
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 |
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 |
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'- TGAGTCTGCTGACCAGGATC -3'
(R):5'- TTTCCAGGTGACATCAAGGTGG -3'
Sequencing Primer
(F):5'- AGTGTGGCTGACTTCAAAATG -3'
(R):5'- ACATCAAGGTGGACTTTTCGATGC -3'
|
Posted On |
2016-09-01 |