Incidental Mutation 'R3815:Ext1'
ID |
274264 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ext1
|
Ensembl Gene |
ENSMUSG00000061731 |
Gene Name |
exostosin glycosyltransferase 1 |
Synonyms |
|
MMRRC Submission |
040770-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3815 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
52931657-53209579 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 53208485 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 92
(I92S)
|
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: I92S
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000076505 Gene: ENSMUSG00000061731 AA Change: I92S
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 |
0.0726 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
Validation Efficiency |
100% (55/55) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
T |
C |
6: 86,936,024 (GRCm39) |
|
probably benign |
Het |
Aldh18a1 |
A |
G |
19: 40,558,944 (GRCm39) |
S299P |
probably damaging |
Het |
Ankrd6 |
A |
C |
4: 32,806,206 (GRCm39) |
S618R |
probably benign |
Het |
Apobec3 |
G |
T |
15: 79,783,301 (GRCm39) |
R126M |
possibly damaging |
Het |
Arl8b |
T |
A |
6: 108,790,658 (GRCm39) |
V65D |
probably damaging |
Het |
AW554918 |
C |
T |
18: 25,533,104 (GRCm39) |
R253C |
probably benign |
Het |
Cd177 |
A |
G |
7: 24,453,817 (GRCm39) |
V358A |
probably benign |
Het |
Cdca7l |
G |
A |
12: 117,835,948 (GRCm39) |
V95I |
probably damaging |
Het |
Ces1e |
A |
G |
8: 93,928,467 (GRCm39) |
|
probably null |
Het |
Cfap90 |
A |
G |
13: 68,759,344 (GRCm39) |
H106R |
probably damaging |
Het |
Coq5 |
T |
G |
5: 115,433,957 (GRCm39) |
F306V |
probably damaging |
Het |
Cpsf1 |
A |
G |
15: 76,485,349 (GRCm39) |
V501A |
probably benign |
Het |
Csmd1 |
C |
T |
8: 16,052,522 (GRCm39) |
A2201T |
probably damaging |
Het |
Cul5 |
T |
A |
9: 53,534,243 (GRCm39) |
I630L |
probably benign |
Het |
Cyp4a12b |
A |
T |
4: 115,289,667 (GRCm39) |
D178V |
probably damaging |
Het |
Dedd |
A |
G |
1: 171,166,469 (GRCm39) |
E135G |
probably benign |
Het |
Ecel1 |
A |
G |
1: 87,080,622 (GRCm39) |
F368S |
probably damaging |
Het |
Fbxw5 |
A |
T |
2: 25,393,576 (GRCm39) |
D268V |
possibly damaging |
Het |
Flacc1 |
T |
G |
1: 58,698,164 (GRCm39) |
N379T |
probably damaging |
Het |
Gen1 |
A |
T |
12: 11,302,034 (GRCm39) |
V192E |
possibly damaging |
Het |
Gm11077 |
T |
G |
6: 140,675,041 (GRCm39) |
V11G |
unknown |
Het |
Ift88 |
A |
T |
14: 57,678,438 (GRCm39) |
E150V |
possibly damaging |
Het |
Kcna1 |
T |
C |
6: 126,620,009 (GRCm39) |
R104G |
probably damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Krt82 |
A |
G |
15: 101,459,035 (GRCm39) |
S2P |
probably damaging |
Het |
Luc7l2 |
T |
C |
6: 38,547,526 (GRCm39) |
S69P |
possibly damaging |
Het |
Ly9 |
G |
T |
1: 171,416,653 (GRCm39) |
T537N |
possibly damaging |
Het |
Mamstr |
G |
T |
7: 45,293,956 (GRCm39) |
R20L |
probably damaging |
Het |
Nav1 |
C |
A |
1: 135,398,862 (GRCm39) |
K573N |
possibly damaging |
Het |
Or5b104 |
T |
C |
19: 13,072,277 (GRCm39) |
H245R |
probably damaging |
Het |
Or8b12c |
C |
T |
9: 37,715,465 (GRCm39) |
S86L |
probably benign |
Het |
Or8b40 |
A |
T |
9: 38,027,922 (GRCm39) |
T277S |
possibly damaging |
Het |
Or8b55 |
A |
G |
9: 38,727,722 (GRCm39) |
K308E |
possibly damaging |
Het |
Palld |
T |
A |
8: 62,002,871 (GRCm39) |
|
probably benign |
Het |
Pcdha2 |
A |
G |
18: 37,074,748 (GRCm39) |
Y793C |
probably benign |
Het |
Pcdhb4 |
A |
T |
18: 37,441,065 (GRCm39) |
D125V |
probably damaging |
Het |
Pomgnt1 |
T |
A |
4: 116,011,139 (GRCm39) |
|
probably null |
Het |
Ppp1r9b |
A |
T |
11: 94,883,359 (GRCm39) |
E329V |
probably damaging |
Het |
Rarres1 |
T |
A |
3: 67,422,654 (GRCm39) |
D32V |
probably benign |
Het |
Rhobtb1 |
A |
G |
10: 69,121,523 (GRCm39) |
H53R |
possibly damaging |
Het |
Ryr1 |
A |
T |
7: 28,772,327 (GRCm39) |
S2494T |
probably damaging |
Het |
Sapcd2 |
G |
A |
2: 25,263,518 (GRCm39) |
|
probably benign |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Senp1 |
A |
C |
15: 97,954,713 (GRCm39) |
D490E |
probably damaging |
Het |
Sfrp5 |
C |
T |
19: 42,187,230 (GRCm39) |
R280H |
probably benign |
Het |
Skint5 |
A |
G |
4: 113,486,319 (GRCm39) |
|
probably benign |
Het |
Skint5 |
G |
A |
4: 113,703,496 (GRCm39) |
T499I |
possibly damaging |
Het |
Smad1 |
G |
A |
8: 80,070,359 (GRCm39) |
A393V |
probably benign |
Het |
Sorl1 |
A |
G |
9: 41,975,345 (GRCm39) |
L487P |
possibly damaging |
Het |
Spire1 |
G |
T |
18: 67,639,733 (GRCm39) |
T273K |
probably benign |
Het |
Tep1 |
T |
C |
14: 51,105,772 (GRCm39) |
T83A |
possibly damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,552,077 (GRCm39) |
R29441* |
probably null |
Het |
Wdr37 |
A |
G |
13: 8,903,632 (GRCm39) |
|
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 |
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'- TGGTCTCTGTCTAAAGTATCCAGAC -3'
(R):5'- TGCAGTTTAGGGCATCGAGG -3'
Sequencing Primer
(F):5'- CTCTGTCTAAAGTATCCAGACTCAAG -3'
(R):5'- TTTAGGGCATCGAGGAGCCAC -3'
|
Posted On |
2015-04-02 |