Incidental Mutation 'R0881:Ext1'
| ID |
80576 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ext1
|
| Ensembl Gene |
ENSMUSG00000061731 |
| Gene Name |
exostosin glycosyltransferase 1 |
| Synonyms |
|
| MMRRC Submission |
039048-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0881 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
52931657-53209579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53207879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 294
(L294P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077273]
[ENSMUST00000133362]
|
| AlphaFold |
P97464 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077273
AA Change: L294P
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000076505
Gene: ENSMUSG00000061731
AA Change: L294P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
41 |
N/A |
INTRINSIC |
|
Pfam:Exostosin
|
110 |
396 |
6e-64 |
PFAM |
|
Pfam:Glyco_transf_64
|
480 |
729 |
1.1e-106 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133362
|
| Meta Mutation Damage Score |
0.9252 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 93.0%
|
| Validation Efficiency |
96% (51/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display a lethal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
| Abcc9 |
T |
A |
6: 142,592,029 (GRCm39) |
I732F |
probably damaging |
Het |
| Adam10 |
T |
C |
9: 70,653,519 (GRCm39) |
S248P |
probably damaging |
Het |
| Adam18 |
A |
T |
8: 25,162,159 (GRCm39) |
|
probably benign |
Het |
| Angel2 |
G |
A |
1: 190,669,661 (GRCm39) |
E114K |
probably damaging |
Het |
| Arhgap29 |
A |
G |
3: 121,808,328 (GRCm39) |
T1169A |
probably damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,731,242 (GRCm39) |
M759K |
probably damaging |
Het |
| Atxn2l |
A |
G |
7: 126,095,768 (GRCm39) |
S450P |
probably damaging |
Het |
| B3glct |
T |
A |
5: 149,663,034 (GRCm39) |
V264E |
probably damaging |
Het |
| Bbx |
A |
G |
16: 50,040,963 (GRCm39) |
|
probably benign |
Het |
| Bmp3 |
A |
G |
5: 99,020,461 (GRCm39) |
N295D |
possibly damaging |
Het |
| C9 |
G |
A |
15: 6,488,349 (GRCm39) |
|
probably benign |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Cdan1 |
A |
T |
2: 120,551,466 (GRCm39) |
V1039E |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,758,665 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
C |
A |
2: 82,816,617 (GRCm39) |
H4117N |
possibly damaging |
Het |
| Itga8 |
C |
T |
2: 12,267,003 (GRCm39) |
|
probably null |
Het |
| Itln1 |
G |
T |
1: 171,360,949 (GRCm39) |
H48N |
probably benign |
Het |
| Kcna5 |
T |
A |
6: 126,511,957 (GRCm39) |
H57L |
probably benign |
Het |
| Klhdc4 |
A |
T |
8: 122,526,226 (GRCm39) |
Y304* |
probably null |
Het |
| Klhl25 |
A |
G |
7: 75,516,027 (GRCm39) |
Y6C |
probably damaging |
Het |
| Lars1 |
C |
T |
18: 42,347,851 (GRCm39) |
V991M |
probably benign |
Het |
| Med20 |
T |
C |
17: 47,922,605 (GRCm39) |
M1T |
probably null |
Het |
| Mslnl |
A |
T |
17: 25,961,939 (GRCm39) |
H138L |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,457,449 (GRCm39) |
I1583V |
probably benign |
Het |
| Nipbl |
A |
C |
15: 8,337,096 (GRCm39) |
V2093G |
probably damaging |
Het |
| Nup98 |
T |
A |
7: 101,809,923 (GRCm39) |
T536S |
probably damaging |
Het |
| Opalin |
T |
C |
19: 41,052,420 (GRCm39) |
|
probably null |
Het |
| Or1j12 |
T |
G |
2: 36,343,452 (GRCm39) |
L285R |
probably damaging |
Het |
| Or51d1 |
T |
A |
7: 102,348,291 (GRCm39) |
V282D |
possibly damaging |
Het |
| Or8g26 |
A |
G |
9: 39,095,984 (GRCm39) |
K170R |
probably benign |
Het |
| Pgm2 |
A |
T |
5: 64,250,351 (GRCm39) |
T9S |
unknown |
Het |
| Piwil2 |
A |
C |
14: 70,646,376 (GRCm39) |
S387A |
probably benign |
Het |
| Polr1c |
T |
C |
17: 46,555,539 (GRCm39) |
T240A |
possibly damaging |
Het |
| Polr3c |
A |
G |
3: 96,631,163 (GRCm39) |
M118T |
probably damaging |
Het |
| Pth1r |
C |
T |
9: 110,560,641 (GRCm39) |
C42Y |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rictor |
A |
T |
15: 6,821,151 (GRCm39) |
M1492L |
probably benign |
Het |
| Rrbp1 |
T |
A |
2: 143,795,173 (GRCm39) |
Y1277F |
probably benign |
Het |
| Scgb3a2 |
T |
G |
18: 43,897,549 (GRCm39) |
|
probably benign |
Het |
| Skint1 |
G |
A |
4: 111,886,054 (GRCm39) |
S327N |
probably benign |
Het |
| Steap4 |
A |
T |
5: 8,030,388 (GRCm39) |
S415C |
probably benign |
Het |
| Tex48 |
A |
G |
4: 63,530,228 (GRCm39) |
|
probably benign |
Het |
| Tox2 |
T |
A |
2: 163,163,365 (GRCm39) |
S502T |
probably benign |
Het |
| Usp47 |
T |
A |
7: 111,690,643 (GRCm39) |
I762K |
possibly damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,334,859 (GRCm39) |
H267R |
probably benign |
Het |
| Wnt2b |
A |
G |
3: 104,860,513 (GRCm39) |
|
probably benign |
Het |
| Xirp1 |
T |
C |
9: 119,847,483 (GRCm39) |
N28D |
possibly damaging |
Het |
| Zeb1 |
T |
C |
18: 5,767,138 (GRCm39) |
S550P |
probably benign |
Het |
|
| Other mutations in Ext1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00710:Ext1
|
APN |
15 |
53,208,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02081:Ext1
|
APN |
15 |
52,936,842 (GRCm39) |
nonsense |
probably null |
|
|
IGL03147:Ext1
|
UTSW |
15 |
52,951,468 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0047:Ext1
|
UTSW |
15 |
53,208,542 (GRCm39) |
missense |
probably benign |
|
|
R0047:Ext1
|
UTSW |
15 |
53,208,542 (GRCm39) |
missense |
probably benign |
|
|
R0437:Ext1
|
UTSW |
15 |
52,969,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1882:Ext1
|
UTSW |
15 |
52,939,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2135:Ext1
|
UTSW |
15 |
52,965,140 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2175:Ext1
|
UTSW |
15 |
52,932,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2762:Ext1
|
UTSW |
15 |
53,208,323 (GRCm39) |
missense |
probably benign |
0.29 |
|
R3162:Ext1
|
UTSW |
15 |
53,208,000 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3162:Ext1
|
UTSW |
15 |
53,208,000 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3752:Ext1
|
UTSW |
15 |
52,939,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3815:Ext1
|
UTSW |
15 |
53,208,485 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4096:Ext1
|
UTSW |
15 |
52,936,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4298:Ext1
|
UTSW |
15 |
53,208,521 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4362:Ext1
|
UTSW |
15 |
52,970,987 (GRCm39) |
intron |
probably benign |
|
|
R4550:Ext1
|
UTSW |
15 |
52,965,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4647:Ext1
|
UTSW |
15 |
52,953,383 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4648:Ext1
|
UTSW |
15 |
52,953,383 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4871:Ext1
|
UTSW |
15 |
52,955,773 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4954:Ext1
|
UTSW |
15 |
53,207,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5010:Ext1
|
UTSW |
15 |
52,955,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5153:Ext1
|
UTSW |
15 |
52,939,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5155:Ext1
|
UTSW |
15 |
52,939,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5328:Ext1
|
UTSW |
15 |
52,939,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5385:Ext1
|
UTSW |
15 |
52,939,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5542:Ext1
|
UTSW |
15 |
52,939,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5555:Ext1
|
UTSW |
15 |
52,951,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5779:Ext1
|
UTSW |
15 |
53,207,949 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5874:Ext1
|
UTSW |
15 |
52,965,148 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6401:Ext1
|
UTSW |
15 |
52,969,493 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6604:Ext1
|
UTSW |
15 |
52,946,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6847:Ext1
|
UTSW |
15 |
53,208,550 (GRCm39) |
missense |
probably benign |
|
|
R6885:Ext1
|
UTSW |
15 |
52,965,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7212:Ext1
|
UTSW |
15 |
53,208,558 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7315:Ext1
|
UTSW |
15 |
52,936,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7361:Ext1
|
UTSW |
15 |
53,208,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7474:Ext1
|
UTSW |
15 |
53,207,885 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7853:Ext1
|
UTSW |
15 |
52,970,881 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7860:Ext1
|
UTSW |
15 |
52,953,335 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8013:Ext1
|
UTSW |
15 |
52,939,283 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8014:Ext1
|
UTSW |
15 |
52,939,283 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8725:Ext1
|
UTSW |
15 |
53,208,065 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8888:Ext1
|
UTSW |
15 |
52,955,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9162:Ext1
|
UTSW |
15 |
53,208,504 (GRCm39) |
nonsense |
probably null |
|
|
R9342:Ext1
|
UTSW |
15 |
53,208,524 (GRCm39) |
missense |
probably benign |
|
|
R9587:Ext1
|
UTSW |
15 |
52,955,808 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9663:Ext1
|
UTSW |
15 |
53,208,456 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9753:Ext1
|
UTSW |
15 |
53,208,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Ext1
|
UTSW |
15 |
53,208,669 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAACTGAGGGCTTCTGTCTCCAC -3'
(R):5'- TTCTGGCACTTGGCCTGACTACAC -3'
Sequencing Primer
(F):5'- TGTCTCCACCCCGCATC -3'
(R):5'- CTGACTACACTGAGGACGTG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation