Incidental Mutation 'R0989:Extl1'
ID |
97471 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Extl1
|
Ensembl Gene |
ENSMUSG00000028838 |
Gene Name |
exostosin-like glycosyltransferase 1 |
Synonyms |
D430033M16Rik |
MMRRC Submission |
039109-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.285)
|
Stock # |
R0989 (G1)
|
Quality Score |
196 |
Status
|
Not 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: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.0%
|
Validation Efficiency |
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadsb |
A |
G |
7: 131,030,273 (GRCm39) |
D140G |
probably damaging |
Het |
Atp7b |
A |
G |
8: 22,518,710 (GRCm39) |
S43P |
possibly damaging |
Het |
C4bp |
G |
A |
1: 130,570,790 (GRCm39) |
T262I |
probably benign |
Het |
Cdh23 |
A |
G |
10: 60,370,289 (GRCm39) |
Y169H |
probably damaging |
Het |
Celsr1 |
T |
C |
15: 85,915,480 (GRCm39) |
E831G |
probably benign |
Het |
Celsr2 |
A |
C |
3: 108,310,588 (GRCm39) |
M1498R |
probably benign |
Het |
Crim1 |
T |
C |
17: 78,508,373 (GRCm39) |
V59A |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,875,002 (GRCm39) |
I2560V |
probably benign |
Het |
Enpp2 |
A |
T |
15: 54,739,155 (GRCm39) |
M376K |
possibly damaging |
Het |
Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
Fbxw11 |
T |
C |
11: 32,685,149 (GRCm39) |
V328A |
probably benign |
Het |
Gm4846 |
G |
A |
1: 166,314,689 (GRCm39) |
S318L |
possibly damaging |
Het |
Golm1 |
A |
T |
13: 59,787,997 (GRCm39) |
Y301N |
probably benign |
Het |
Ipo8 |
T |
C |
6: 148,698,180 (GRCm39) |
T614A |
probably benign |
Het |
Klhl33 |
T |
A |
14: 51,129,279 (GRCm39) |
Y390F |
probably damaging |
Het |
Minar1 |
T |
A |
9: 89,484,088 (GRCm39) |
K436N |
probably damaging |
Het |
Mlh3 |
A |
G |
12: 85,316,169 (GRCm39) |
S6P |
probably benign |
Het |
Neurod2 |
A |
G |
11: 98,218,805 (GRCm39) |
S120P |
probably damaging |
Het |
Nfkb1 |
A |
G |
3: 135,295,157 (GRCm39) |
S896P |
probably benign |
Het |
Nr3c2 |
T |
C |
8: 77,914,193 (GRCm39) |
Y687H |
probably damaging |
Het |
Or13a24 |
A |
C |
7: 140,154,200 (GRCm39) |
I45L |
probably damaging |
Het |
Or52k2 |
G |
A |
7: 102,253,690 (GRCm39) |
G43D |
probably damaging |
Het |
Parp3 |
C |
T |
9: 106,350,281 (GRCm39) |
|
probably null |
Het |
Pcolce2 |
T |
A |
9: 95,520,776 (GRCm39) |
M51K |
probably benign |
Het |
Pnoc |
T |
C |
14: 65,642,317 (GRCm39) |
K149E |
probably damaging |
Het |
Polr1b |
T |
G |
2: 128,967,997 (GRCm39) |
V1130G |
probably damaging |
Het |
Prcp |
A |
T |
7: 92,559,424 (GRCm39) |
I163F |
probably benign |
Het |
Sez6l2 |
A |
G |
7: 126,559,016 (GRCm39) |
D361G |
probably damaging |
Het |
Slc4a9 |
T |
A |
18: 36,669,920 (GRCm39) |
L785* |
probably null |
Het |
Ssna1 |
T |
C |
2: 25,161,575 (GRCm39) |
T91A |
probably benign |
Het |
St18 |
A |
G |
1: 6,898,105 (GRCm39) |
T636A |
probably benign |
Het |
Tln2 |
C |
T |
9: 67,136,736 (GRCm39) |
A1250T |
probably damaging |
Het |
Tnk2 |
A |
G |
16: 32,499,176 (GRCm39) |
M815V |
probably damaging |
Het |
Tspan31 |
T |
A |
10: 126,904,196 (GRCm39) |
H167L |
probably damaging |
Het |
Tspoap1 |
T |
A |
11: 87,656,649 (GRCm39) |
C287S |
probably damaging |
Het |
Unc80 |
T |
C |
1: 66,685,599 (GRCm39) |
F2241S |
possibly 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 |
|
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 |
|
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'- ATGAACTTCCTGGTAGCCACCGTC -3'
Sequencing Primer
(F):5'- CGTGCCAAACGCAACCC -3'
(R):5'- ACTGCCCCCTATCAAGGTG -3'
|
Posted On |
2014-01-05 |