Incidental Mutation 'R4954:Ext1'
ID |
381500 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ext1
|
Ensembl Gene |
ENSMUSG00000061731 |
Gene Name |
exostosin glycosyltransferase 1 |
Synonyms |
|
MMRRC Submission |
042551-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4954 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
52931657-53209579 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 53207888 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 291
(D291G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076505
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077273]
[ENSMUST00000133362]
|
AlphaFold |
P97464 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077273
AA Change: D291G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000076505 Gene: ENSMUSG00000061731 AA Change: D291G
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 |
0.7837 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
Validation Efficiency |
100% (66/66) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
G |
A |
12: 118,875,169 (GRCm39) |
H668Y |
probably benign |
Het |
Alk |
C |
T |
17: 72,209,687 (GRCm39) |
W919* |
probably null |
Het |
Aoc3 |
G |
A |
11: 101,222,925 (GRCm39) |
G387D |
probably damaging |
Het |
Arhgap26 |
T |
A |
18: 39,376,694 (GRCm39) |
C441S |
probably benign |
Het |
Arhgap28 |
C |
A |
17: 68,176,008 (GRCm39) |
E100* |
probably null |
Het |
Ate1 |
C |
T |
7: 130,110,748 (GRCm39) |
G186D |
probably benign |
Het |
Birc6 |
T |
A |
17: 74,919,026 (GRCm39) |
L1948H |
probably damaging |
Het |
Bmp2k |
C |
T |
5: 97,234,623 (GRCm39) |
|
probably benign |
Het |
Ccin |
A |
T |
4: 43,985,077 (GRCm39) |
I495F |
probably benign |
Het |
Cir1 |
T |
A |
2: 73,140,848 (GRCm39) |
E40D |
probably benign |
Het |
Cyp3a57 |
A |
T |
5: 145,307,765 (GRCm39) |
|
probably null |
Het |
Dennd1b |
A |
G |
1: 138,981,124 (GRCm39) |
T113A |
probably damaging |
Het |
Dnah2 |
G |
A |
11: 69,430,322 (GRCm39) |
P79S |
possibly damaging |
Het |
Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
Dync2i1 |
T |
C |
12: 116,219,645 (GRCm39) |
D99G |
probably damaging |
Het |
Enpep |
A |
T |
3: 129,077,829 (GRCm39) |
I596N |
probably damaging |
Het |
Eps15 |
G |
A |
4: 109,227,875 (GRCm39) |
|
probably null |
Het |
Gm12883 |
T |
C |
4: 121,252,198 (GRCm39) |
|
noncoding transcript |
Het |
Gm9921 |
A |
G |
12: 45,484,383 (GRCm39) |
|
noncoding transcript |
Het |
H2-T22 |
C |
A |
17: 36,352,851 (GRCm39) |
W85C |
probably damaging |
Het |
Heatr1 |
G |
A |
13: 12,422,397 (GRCm39) |
|
probably null |
Het |
Hspa4l |
T |
A |
3: 40,739,832 (GRCm39) |
|
probably null |
Het |
Kcnc3 |
CTT |
CT |
7: 44,240,720 (GRCm39) |
|
probably null |
Het |
Kpna1 |
T |
C |
16: 35,853,696 (GRCm39) |
V442A |
probably damaging |
Het |
Mogat2 |
T |
C |
7: 98,887,724 (GRCm39) |
T17A |
possibly damaging |
Het |
Musk |
C |
T |
4: 58,344,222 (GRCm39) |
T285I |
probably damaging |
Het |
Myorg |
G |
A |
4: 41,498,241 (GRCm39) |
A463V |
possibly damaging |
Het |
Nbea |
T |
G |
3: 55,943,379 (GRCm39) |
Q632P |
probably damaging |
Het |
Ncoa3 |
T |
C |
2: 165,907,706 (GRCm39) |
V1105A |
probably benign |
Het |
Neb |
T |
C |
2: 52,067,530 (GRCm39) |
|
probably null |
Het |
Nlrp4e |
A |
T |
7: 23,061,318 (GRCm39) |
K970* |
probably null |
Het |
Oog2 |
A |
T |
4: 143,917,302 (GRCm39) |
|
probably benign |
Het |
Or13g1 |
T |
C |
7: 85,955,809 (GRCm39) |
I171V |
probably benign |
Het |
Or2a57 |
A |
G |
6: 43,213,318 (GRCm39) |
M259V |
probably benign |
Het |
Or52a24 |
A |
G |
7: 103,381,414 (GRCm39) |
I94V |
probably damaging |
Het |
Otos |
T |
C |
1: 92,572,167 (GRCm39) |
Y53C |
probably damaging |
Het |
Oxct2a |
A |
T |
4: 123,216,252 (GRCm39) |
C376* |
probably null |
Het |
Pate12 |
A |
T |
9: 36,344,156 (GRCm39) |
K46N |
probably benign |
Het |
Phf14 |
C |
A |
6: 11,987,619 (GRCm39) |
Q633K |
probably benign |
Het |
Pkdrej |
T |
A |
15: 85,700,602 (GRCm39) |
N1778I |
probably damaging |
Het |
Psmc3 |
C |
T |
2: 90,885,974 (GRCm39) |
|
probably benign |
Het |
Rbm33 |
A |
T |
5: 28,544,274 (GRCm39) |
I177F |
probably damaging |
Het |
Rps6ka2 |
A |
G |
17: 7,539,003 (GRCm39) |
D307G |
probably benign |
Het |
Rps6ka2 |
G |
A |
17: 7,566,685 (GRCm39) |
V648I |
probably benign |
Het |
Scn11a |
C |
T |
9: 119,587,725 (GRCm39) |
V1340M |
possibly damaging |
Het |
Sema7a |
T |
C |
9: 57,863,663 (GRCm39) |
W279R |
probably damaging |
Het |
Slc2a10 |
A |
T |
2: 165,356,675 (GRCm39) |
I112F |
probably damaging |
Het |
Stk4 |
C |
A |
2: 163,993,601 (GRCm39) |
S77R |
possibly damaging |
Het |
Stk4 |
T |
A |
2: 163,993,602 (GRCm39) |
W78R |
probably damaging |
Het |
Syf2 |
T |
A |
4: 134,662,283 (GRCm39) |
L99* |
probably null |
Het |
Tas2r104 |
A |
T |
6: 131,661,968 (GRCm39) |
I247K |
probably damaging |
Het |
Usp15 |
G |
T |
10: 122,967,303 (GRCm39) |
R368S |
probably damaging |
Het |
Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
Vmn2r2 |
T |
A |
3: 64,047,905 (GRCm39) |
L20F |
probably benign |
Het |
Zcchc4 |
A |
T |
5: 52,976,559 (GRCm39) |
H451L |
probably 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 |
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'- GCAACAGAACTGAGGGCTTC -3'
(R):5'- CTGAAAACTTCCGACCAAACTTTG -3'
Sequencing Primer
(F):5'- AACAGAACTGAGGGCTTCTGTCTC -3'
(R):5'- AACTTCCGACCAAACTTTGATGTTTC -3'
|
Posted On |
2016-04-27 |