Incidental Mutation 'R9162:Ext1'
ID |
695806 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ext1
|
Ensembl Gene |
ENSMUSG00000061731 |
Gene Name |
exostosin glycosyltransferase 1 |
Synonyms |
|
MMRRC Submission |
068943-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9162 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
52931657-53209579 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 53208504 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 86
(R86*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076505
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077273]
[ENSMUST00000133362]
|
AlphaFold |
P97464 |
Predicted Effect |
probably null
Transcript: ENSMUST00000077273
AA Change: R86*
|
SMART Domains |
Protein: ENSMUSP00000076505 Gene: ENSMUSG00000061731 AA Change: R86*
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
98% (48/49) |
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 |
Abcb8 |
A |
G |
5: 24,611,732 (GRCm39) |
D516G |
probably damaging |
Het |
Abcd2 |
A |
G |
15: 91,058,926 (GRCm39) |
M506T |
probably benign |
Het |
Abhd17a |
T |
C |
10: 80,422,577 (GRCm39) |
Y35C |
probably damaging |
Het |
Adamts12 |
A |
G |
15: 11,311,721 (GRCm39) |
N1326S |
probably benign |
Het |
Arhgef18 |
T |
C |
8: 3,414,645 (GRCm39) |
Y8H |
probably benign |
Het |
Arsi |
T |
C |
18: 61,050,569 (GRCm39) |
V484A |
probably damaging |
Het |
Bsn |
T |
C |
9: 107,987,883 (GRCm39) |
D2623G |
unknown |
Het |
Cul9 |
A |
C |
17: 46,837,529 (GRCm39) |
D1005E |
probably benign |
Het |
Dchs1 |
A |
C |
7: 105,414,732 (GRCm39) |
V770G |
probably damaging |
Het |
Dcst2 |
C |
A |
3: 89,274,088 (GRCm39) |
S213* |
probably null |
Het |
Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
Dysf |
C |
T |
6: 84,089,215 (GRCm39) |
T926I |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,404,352 (GRCm39) |
F368L |
probably damaging |
Het |
Flnc |
T |
C |
6: 29,455,860 (GRCm39) |
C2097R |
probably damaging |
Het |
Git1 |
T |
A |
11: 77,396,331 (GRCm39) |
I565N |
probably benign |
Het |
Gpr22 |
A |
G |
12: 31,758,724 (GRCm39) |
V466A |
probably benign |
Het |
Hacd4 |
T |
A |
4: 88,338,017 (GRCm39) |
T194S |
probably benign |
Het |
Hectd4 |
A |
G |
5: 121,445,042 (GRCm39) |
K93R |
possibly damaging |
Het |
Kcnv1 |
T |
C |
15: 44,972,450 (GRCm39) |
S478G |
possibly damaging |
Het |
Kmt2a |
T |
C |
9: 44,759,363 (GRCm39) |
S829G |
probably benign |
Het |
Lnp1 |
A |
T |
16: 56,737,844 (GRCm39) |
H81Q |
possibly damaging |
Het |
Lrp1 |
C |
T |
10: 127,441,368 (GRCm39) |
A252T |
probably benign |
Het |
Msl2 |
T |
C |
9: 100,978,928 (GRCm39) |
V434A |
probably benign |
Het |
Myo1g |
T |
A |
11: 6,460,897 (GRCm39) |
I716F |
probably damaging |
Het |
Or52e19 |
A |
T |
7: 102,958,927 (GRCm39) |
|
probably benign |
Het |
Or56a42-ps1 |
A |
T |
7: 104,777,454 (GRCm39) |
Y53* |
probably null |
Het |
Or5b12 |
A |
T |
19: 12,897,024 (GRCm39) |
Y216* |
probably null |
Het |
Or7e175 |
A |
G |
9: 20,040,457 (GRCm39) |
I6V |
probably benign |
Het |
Pappa |
T |
A |
4: 65,123,040 (GRCm39) |
S792T |
probably damaging |
Het |
Pcdhb17 |
T |
C |
18: 37,620,168 (GRCm39) |
S653P |
probably damaging |
Het |
Plcd4 |
A |
G |
1: 74,601,362 (GRCm39) |
K574R |
probably benign |
Het |
Scyl3 |
C |
A |
1: 163,773,891 (GRCm39) |
Q372K |
probably benign |
Het |
Sgsm1 |
A |
T |
5: 113,430,577 (GRCm39) |
D269E |
probably damaging |
Het |
Siah2 |
C |
A |
3: 58,599,104 (GRCm39) |
G45C |
unknown |
Het |
Slc4a11 |
T |
A |
2: 130,534,214 (GRCm39) |
D28V |
possibly damaging |
Het |
Slco1a8 |
T |
A |
6: 141,939,453 (GRCm39) |
E200V |
probably damaging |
Het |
Socs4 |
T |
A |
14: 47,528,301 (GRCm39) |
M412K |
probably damaging |
Het |
Spata31e1 |
T |
G |
13: 49,939,310 (GRCm39) |
Q800P |
possibly damaging |
Het |
Spef2 |
T |
G |
15: 9,602,017 (GRCm39) |
N1415T |
unknown |
Het |
Stat6 |
A |
G |
10: 127,487,089 (GRCm39) |
K199E |
probably damaging |
Het |
Syndig1l |
A |
G |
12: 84,727,291 (GRCm39) |
F91S |
probably damaging |
Het |
Tank |
C |
A |
2: 61,480,432 (GRCm39) |
Q324K |
possibly damaging |
Het |
Tars3 |
G |
A |
7: 65,332,518 (GRCm39) |
E540K |
probably benign |
Het |
Tial1 |
A |
G |
7: 128,050,415 (GRCm39) |
V70A |
possibly damaging |
Het |
Tmem87b |
C |
T |
2: 128,681,150 (GRCm39) |
T358I |
probably benign |
Het |
Ttyh3 |
G |
A |
5: 140,621,820 (GRCm39) |
A42V |
possibly damaging |
Het |
Xrn1 |
T |
C |
9: 95,915,660 (GRCm39) |
I1261T |
probably benign |
Het |
Zfp229 |
T |
C |
17: 21,964,495 (GRCm39) |
S242P |
probably damaging |
Het |
Zmym2 |
T |
A |
14: 57,163,361 (GRCm39) |
C638S |
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 |
R0881:Ext1
|
UTSW |
15 |
53,207,879 (GRCm39) |
missense |
probably benign |
0.23 |
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 |
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'- TGGTCTCTGTCTAAAGTATCCAGAC -3'
(R):5'- TGCAGTTTAGGGCATCGAGG -3'
Sequencing Primer
(F):5'- CTCTGTCTAAAGTATCCAGACTCAAG -3'
(R):5'- TTTAGGGCATCGAGGAGCCAC -3'
|
Posted On |
2022-02-07 |