Incidental Mutation 'R0575:Extl1'
ID |
60442 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Extl1
|
Ensembl Gene |
ENSMUSG00000028838 |
Gene Name |
exostosin-like glycosyltransferase 1 |
Synonyms |
D430033M16Rik |
MMRRC Submission |
038765-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.285)
|
Stock # |
R0575 (G1)
|
Quality Score |
195 |
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: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
Validation Efficiency |
100% (30/30) |
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
C |
T |
14: 54,828,709 (GRCm39) |
S264N |
possibly damaging |
Het |
Acsm1 |
G |
A |
7: 119,258,424 (GRCm39) |
|
probably null |
Het |
Adsl |
C |
T |
15: 80,847,886 (GRCm39) |
A93V |
probably damaging |
Het |
Agbl5 |
A |
T |
5: 31,051,798 (GRCm39) |
S539C |
probably damaging |
Het |
Aggf1 |
T |
A |
13: 95,504,905 (GRCm39) |
T285S |
probably benign |
Het |
Anapc11 |
A |
G |
11: 120,490,192 (GRCm39) |
D36G |
probably benign |
Het |
Ankrd44 |
G |
A |
1: 54,801,469 (GRCm39) |
A286V |
probably damaging |
Het |
Atf7ip2 |
G |
T |
16: 10,055,075 (GRCm39) |
G281C |
probably damaging |
Het |
Birc6 |
A |
G |
17: 74,996,232 (GRCm39) |
K4475E |
probably damaging |
Het |
Ccbe1 |
T |
A |
18: 66,227,066 (GRCm39) |
|
probably benign |
Het |
Cyp26b1 |
A |
G |
6: 84,552,288 (GRCm39) |
|
probably benign |
Het |
Dcun1d1 |
T |
C |
3: 35,951,934 (GRCm39) |
|
probably benign |
Het |
Dtwd2 |
C |
A |
18: 49,831,539 (GRCm39) |
C156F |
probably damaging |
Het |
Efcab6 |
T |
G |
15: 83,851,901 (GRCm39) |
I326L |
probably benign |
Het |
F5 |
C |
A |
1: 164,003,813 (GRCm39) |
Q203K |
probably damaging |
Het |
Frs3 |
A |
G |
17: 48,014,648 (GRCm39) |
H447R |
possibly damaging |
Het |
Gmds |
T |
G |
13: 32,124,566 (GRCm39) |
Q264P |
probably damaging |
Het |
Golgb1 |
T |
A |
16: 36,739,171 (GRCm39) |
D2503E |
probably benign |
Het |
Lgi4 |
G |
A |
7: 30,759,518 (GRCm39) |
G25R |
probably benign |
Het |
Or2y1b |
G |
A |
11: 49,208,880 (GRCm39) |
C169Y |
probably damaging |
Het |
Or5b107 |
T |
A |
19: 13,142,751 (GRCm39) |
Y124* |
probably null |
Het |
Pcdh20 |
A |
G |
14: 88,705,048 (GRCm39) |
S751P |
probably damaging |
Het |
Pcnx4 |
A |
G |
12: 72,614,010 (GRCm39) |
T652A |
probably benign |
Het |
Pom121l2 |
T |
G |
13: 22,168,338 (GRCm39) |
F870V |
probably damaging |
Het |
Prob1 |
T |
C |
18: 35,787,774 (GRCm39) |
D160G |
possibly damaging |
Het |
Spa17 |
T |
C |
9: 37,514,689 (GRCm39) |
K133E |
probably damaging |
Het |
Strbp |
T |
A |
2: 37,530,885 (GRCm39) |
D123V |
possibly damaging |
Het |
Tnxb |
A |
G |
17: 34,936,180 (GRCm39) |
T3586A |
possibly damaging |
Het |
Zfp518a |
T |
A |
19: 40,900,759 (GRCm39) |
H229Q |
probably damaging |
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 |
R0566: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 |
PCR Primer
(F):5'- TGTGCGAAACGTGCCAAACG -3'
(R):5'- AGGACCATAGCTGATGAGACTCCCAC -3'
Sequencing Primer
(F):5'- CGTGCCAAACGCAACCC -3'
(R):5'- GATGAACTTCCTGGTAGCCAC -3'
|
Posted On |
2013-07-11 |