Incidental Mutation 'R8014:Ext1'
ID |
617098 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ext1
|
Ensembl Gene |
ENSMUSG00000061731 |
Gene Name |
exostosin glycosyltransferase 1 |
Synonyms |
|
MMRRC Submission |
067454-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8014 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
52931657-53209579 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 52939283 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 589
(I589V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076505
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077273]
[ENSMUST00000133362]
|
AlphaFold |
P97464 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077273
AA Change: I589V
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000076505 Gene: ENSMUSG00000061731 AA Change: I589V
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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030458C11Rik |
C |
A |
15: 12,824,615 (GRCm39) |
D7Y |
probably benign |
Het |
Aff1 |
A |
G |
5: 103,981,735 (GRCm39) |
T625A |
possibly damaging |
Het |
Aldh8a1 |
T |
C |
10: 21,265,201 (GRCm39) |
V276A |
probably benign |
Het |
Alkbh3 |
T |
C |
2: 93,831,858 (GRCm39) |
D124G |
probably benign |
Het |
Apob |
T |
A |
12: 8,060,798 (GRCm39) |
N3093K |
possibly damaging |
Het |
Atp13a1 |
C |
T |
8: 70,252,429 (GRCm39) |
R608* |
probably null |
Het |
Bbs7 |
A |
T |
3: 36,648,536 (GRCm39) |
I404K |
probably damaging |
Het |
Cacna2d1 |
A |
T |
5: 16,547,689 (GRCm39) |
T647S |
possibly damaging |
Het |
Carmil1 |
T |
C |
13: 24,220,304 (GRCm39) |
E1140G |
possibly damaging |
Het |
Ccdc158 |
C |
A |
5: 92,796,889 (GRCm39) |
E482D |
probably damaging |
Het |
Ccdc92 |
A |
T |
5: 124,913,090 (GRCm39) |
H146Q |
probably damaging |
Het |
Cntnap4 |
T |
A |
8: 113,480,577 (GRCm39) |
N341K |
probably damaging |
Het |
Cog1 |
A |
G |
11: 113,546,990 (GRCm39) |
D528G |
probably damaging |
Het |
Cttnbp2 |
G |
C |
6: 18,426,092 (GRCm39) |
A762G |
possibly damaging |
Het |
D130043K22Rik |
A |
T |
13: 25,040,685 (GRCm39) |
I36F |
probably damaging |
Het |
Dis3 |
T |
A |
14: 99,314,835 (GRCm39) |
R954W |
possibly damaging |
Het |
Eef1ece2 |
A |
T |
16: 20,461,067 (GRCm39) |
T618S |
probably benign |
Het |
Fam20a |
T |
A |
11: 109,576,332 (GRCm39) |
E142D |
possibly damaging |
Het |
Fars2 |
C |
T |
13: 36,389,068 (GRCm39) |
Q186* |
probably null |
Het |
Fcgbpl1 |
G |
A |
7: 27,836,966 (GRCm39) |
R295H |
probably benign |
Het |
Fhdc1 |
A |
T |
3: 84,381,946 (GRCm39) |
M1K |
probably null |
Het |
Gars1 |
T |
A |
6: 55,050,392 (GRCm39) |
F551Y |
probably benign |
Het |
Gm28363 |
A |
G |
1: 117,654,534 (GRCm39) |
R58G |
probably benign |
Het |
Gm8356 |
A |
T |
14: 17,692,450 (GRCm39) |
N58K |
probably damaging |
Het |
Gm9758 |
A |
G |
5: 14,961,454 (GRCm39) |
V175A |
possibly damaging |
Het |
Gpr182 |
T |
C |
10: 127,586,874 (GRCm39) |
T26A |
possibly damaging |
Het |
Gpr19 |
A |
G |
6: 134,846,436 (GRCm39) |
Y416H |
probably damaging |
Het |
Hrob |
A |
G |
11: 102,148,725 (GRCm39) |
N379D |
probably benign |
Het |
Itgb7 |
T |
A |
15: 102,131,087 (GRCm39) |
S322C |
probably damaging |
Het |
Kcnma1 |
T |
A |
14: 23,423,211 (GRCm39) |
I831F |
probably benign |
Het |
Lrba |
A |
T |
3: 86,325,278 (GRCm39) |
D1912V |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,420,619 (GRCm39) |
T212S |
probably benign |
Het |
Map3k4 |
A |
T |
17: 12,489,918 (GRCm39) |
C504* |
probably null |
Het |
Morc2a |
T |
C |
11: 3,627,419 (GRCm39) |
S281P |
probably damaging |
Het |
Muc16 |
T |
C |
9: 18,566,171 (GRCm39) |
H2116R |
unknown |
Het |
Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
Omg |
T |
C |
11: 79,393,729 (GRCm39) |
D43G |
possibly damaging |
Het |
Or13c7 |
T |
A |
4: 43,854,958 (GRCm39) |
F216L |
probably benign |
Het |
Or2ag15 |
C |
T |
7: 106,340,824 (GRCm39) |
V106I |
probably benign |
Het |
Or4c122 |
T |
A |
2: 89,079,343 (GRCm39) |
I220F |
probably damaging |
Het |
Or4c3 |
C |
A |
2: 89,852,087 (GRCm39) |
V108F |
possibly damaging |
Het |
Or5b3 |
A |
T |
19: 13,388,175 (GRCm39) |
T81S |
not run |
Het |
Or5w22 |
A |
T |
2: 87,362,508 (GRCm39) |
M44L |
probably benign |
Het |
Pdia6 |
T |
C |
12: 17,323,966 (GRCm39) |
L66S |
probably damaging |
Het |
Pds5a |
A |
G |
5: 65,785,082 (GRCm39) |
I930T |
possibly damaging |
Het |
Piezo2 |
C |
T |
18: 63,216,271 (GRCm39) |
G1169S |
probably benign |
Het |
Pkhd1 |
A |
G |
1: 20,579,115 (GRCm39) |
|
probably null |
Het |
Plekhg1 |
A |
T |
10: 3,907,758 (GRCm39) |
R947W |
|
Het |
Ptprs |
A |
C |
17: 56,742,994 (GRCm39) |
S383A |
probably damaging |
Het |
Rin3 |
T |
A |
12: 102,327,630 (GRCm39) |
L193* |
probably null |
Het |
Sgsh |
A |
G |
11: 119,243,521 (GRCm39) |
V67A |
probably damaging |
Het |
Slc16a4 |
A |
G |
3: 107,218,794 (GRCm39) |
Y465C |
probably damaging |
Het |
Stab2 |
C |
A |
10: 86,686,767 (GRCm39) |
S2259I |
possibly damaging |
Het |
Tbc1d24 |
G |
A |
17: 24,401,795 (GRCm39) |
P385S |
possibly damaging |
Het |
Tm4sf1 |
T |
C |
3: 57,200,319 (GRCm39) |
I99V |
probably benign |
Het |
Tmem108 |
A |
T |
9: 103,376,606 (GRCm39) |
I281N |
probably benign |
Het |
Usp31 |
T |
C |
7: 121,248,480 (GRCm39) |
S988G |
probably damaging |
Het |
Usp44 |
G |
T |
10: 93,688,571 (GRCm39) |
|
probably null |
Het |
Zbtb26 |
T |
A |
2: 37,327,013 (GRCm39) |
|
probably null |
Het |
Zfp599 |
A |
G |
9: 22,160,777 (GRCm39) |
Y463H |
probably benign |
Het |
Zfp750 |
T |
A |
11: 121,403,843 (GRCm39) |
D344V |
possibly damaging |
Het |
Zmym5 |
T |
A |
14: 57,031,883 (GRCm39) |
K408N |
possibly damaging |
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 |
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'- GCAGTTGTTAGAAATCTCAGCTCC -3'
(R):5'- GTCAAGCAGTCAGTTTAATTTGCTG -3'
Sequencing Primer
(F):5'- TCAGTGTGTAAGAGCACCCGAC -3'
(R):5'- CAGTTTAATTTGCTGATGAATATGGG -3'
|
Posted On |
2020-01-23 |