Incidental Mutation 'R0566:Extl1'
| ID |
66997 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Extl1
|
| Ensembl Gene |
ENSMUSG00000028838 |
| Gene Name |
exostosin-like glycosyltransferase 1 |
| Synonyms |
D430033M16Rik |
| MMRRC Submission |
038757-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
R0566 (G1)
|
| Quality Score |
121 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
134083684-134099893 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
TGCGTTGCACCGATACCGGG to TG
at 134084988 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030643]
[ENSMUST00000081094]
[ENSMUST00000105872]
[ENSMUST00000105874]
|
| AlphaFold |
Q9JKV7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030643
|
| SMART Domains |
Protein: ENSMUSP00000030643
Gene: ENSMUSG00000028838
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Exostosin
|
87 |
329 |
2.1e-38 |
PFAM |
|
Pfam:Glyco_transf_64
|
412 |
652 |
1.7e-84 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081094
|
| SMART Domains |
Protein: ENSMUSP00000079875
Gene: ENSMUSG00000028836
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cation_efflux
|
1 |
280 |
6e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105872
|
| SMART Domains |
Protein: ENSMUSP00000101498
Gene: ENSMUSG00000028836
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cation_efflux
|
1 |
280 |
6e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105874
|
| SMART Domains |
Protein: ENSMUSP00000101500
Gene: ENSMUSG00000028836
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cation_efflux
|
70 |
277 |
3.4e-51 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132387
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.9%
|
| Validation Efficiency |
96% (24/25) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the multiple exostoses (EXT) family of glycosyltransferases, which function in the chain polymerization of heparan sulfate and heparin. The encoded protein harbors alpha 1,4- N-acetylglucosaminyltransferase activity, and is involved in chain elongation of heparan sulfate and possibly heparin. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf3 |
T |
C |
8: 123,508,266 (GRCm39) |
L254P |
possibly damaging |
Het |
| Adamts6 |
C |
A |
13: 104,581,435 (GRCm39) |
A850E |
probably benign |
Het |
| Ccdc112 |
A |
C |
18: 46,423,877 (GRCm39) |
V287G |
probably damaging |
Het |
| Ctbp2 |
A |
G |
7: 132,592,876 (GRCm39) |
V811A |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,408,402 (GRCm39) |
V1810A |
probably benign |
Het |
| Dhx15 |
T |
G |
5: 52,328,767 (GRCm39) |
K287T |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,221,840 (GRCm39) |
|
probably benign |
Het |
| Gnpda2 |
A |
G |
5: 69,742,304 (GRCm39) |
|
probably benign |
Het |
| Mto1 |
T |
C |
9: 78,355,583 (GRCm39) |
F2S |
possibly damaging |
Het |
| Nlrp1a |
A |
G |
11: 71,013,768 (GRCm39) |
L494P |
probably benign |
Het |
| Or2r2 |
T |
A |
6: 42,464,025 (GRCm39) |
Y34F |
probably damaging |
Het |
| Paqr8 |
C |
A |
1: 21,005,687 (GRCm39) |
H280Q |
possibly damaging |
Het |
| Perm1 |
A |
T |
4: 156,302,316 (GRCm39) |
M287L |
probably benign |
Het |
| Piwil2 |
A |
G |
14: 70,647,843 (GRCm39) |
V323A |
probably damaging |
Het |
| Pon3 |
A |
G |
6: 5,232,408 (GRCm39) |
V131A |
possibly damaging |
Het |
| Prima1 |
C |
A |
12: 103,163,573 (GRCm39) |
A133S |
probably benign |
Het |
| Prl7c1 |
A |
G |
13: 27,962,961 (GRCm39) |
L14P |
probably damaging |
Het |
| Prr23a2 |
T |
A |
9: 98,739,041 (GRCm39) |
L133H |
possibly damaging |
Het |
| Samd3 |
T |
C |
10: 26,120,396 (GRCm39) |
V157A |
possibly damaging |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,082,871 (GRCm39) |
|
probably null |
Het |
| Tmem208 |
T |
C |
8: 106,061,475 (GRCm39) |
V167A |
probably benign |
Het |
| Tnrc6a |
A |
T |
7: 122,770,136 (GRCm39) |
N642I |
probably benign |
Het |
| Vps26a |
A |
G |
10: 62,316,325 (GRCm39) |
|
probably benign |
Het |
| Zfp112 |
T |
C |
7: 23,825,102 (GRCm39) |
S357P |
probably benign |
Het |
|
| Other mutations in Extl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Extl1
|
APN |
4 |
134,085,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01404:Extl1
|
APN |
4 |
134,086,514 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03040:Extl1
|
APN |
4 |
134,087,940 (GRCm39) |
splice site |
probably benign |
|
|
R0165:Extl1
|
UTSW |
4 |
134,085,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0575:Extl1
|
UTSW |
4 |
134,084,988 (GRCm39) |
unclassified |
probably benign |
|
|
R0941:Extl1
|
UTSW |
4 |
134,084,988 (GRCm39) |
unclassified |
probably benign |
|
|
R0943:Extl1
|
UTSW |
4 |
134,084,988 (GRCm39) |
unclassified |
probably benign |
|
|
R0988:Extl1
|
UTSW |
4 |
134,084,988 (GRCm39) |
unclassified |
probably benign |
|
|
R0989:Extl1
|
UTSW |
4 |
134,084,988 (GRCm39) |
unclassified |
probably benign |
|
|
R0990:Extl1
|
UTSW |
4 |
134,084,988 (GRCm39) |
unclassified |
probably benign |
|
|
R1022:Extl1
|
UTSW |
4 |
134,084,988 (GRCm39) |
unclassified |
probably benign |
|
|
R1035:Extl1
|
UTSW |
4 |
134,084,988 (GRCm39) |
unclassified |
probably benign |
|
|
R1344:Extl1
|
UTSW |
4 |
134,086,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1495:Extl1
|
UTSW |
4 |
134,084,988 (GRCm39) |
unclassified |
probably benign |
|
|
R1699:Extl1
|
UTSW |
4 |
134,091,894 (GRCm39) |
nonsense |
probably null |
|
|
R1750:Extl1
|
UTSW |
4 |
134,089,999 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1768:Extl1
|
UTSW |
4 |
134,098,449 (GRCm39) |
missense |
probably benign |
|
|
R1883:Extl1
|
UTSW |
4 |
134,091,917 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2143:Extl1
|
UTSW |
4 |
134,098,355 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2144:Extl1
|
UTSW |
4 |
134,098,355 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2155:Extl1
|
UTSW |
4 |
134,090,491 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4298:Extl1
|
UTSW |
4 |
134,084,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4605:Extl1
|
UTSW |
4 |
134,087,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4606:Extl1
|
UTSW |
4 |
134,098,691 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4606:Extl1
|
UTSW |
4 |
134,098,690 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4787:Extl1
|
UTSW |
4 |
134,091,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5210:Extl1
|
UTSW |
4 |
134,087,895 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5776:Extl1
|
UTSW |
4 |
134,085,083 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6216:Extl1
|
UTSW |
4 |
134,090,441 (GRCm39) |
missense |
probably benign |
|
|
R6392:Extl1
|
UTSW |
4 |
134,091,945 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6674:Extl1
|
UTSW |
4 |
134,085,438 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7218:Extl1
|
UTSW |
4 |
134,087,080 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7779:Extl1
|
UTSW |
4 |
134,087,908 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7779:Extl1
|
UTSW |
4 |
134,085,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7795:Extl1
|
UTSW |
4 |
134,091,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7800:Extl1
|
UTSW |
4 |
134,098,929 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8472:Extl1
|
UTSW |
4 |
134,098,603 (GRCm39) |
missense |
probably benign |
|
|
R8977:Extl1
|
UTSW |
4 |
134,086,435 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9079:Extl1
|
UTSW |
4 |
134,089,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Extl1
|
UTSW |
4 |
134,085,332 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
|
| Posted On |
2013-08-20 |
Incidental Mutation