Incidental Mutation 'R4298:Ext1'
| ID |
323444 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ext1
|
| Ensembl Gene |
ENSMUSG00000061731 |
| Gene Name |
exostosin glycosyltransferase 1 |
| Synonyms |
|
| MMRRC Submission |
041086-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4298 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
52931657-53209579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 53208521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 80
(I80N)
|
| 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: I80N
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000076505
Gene: ENSMUSG00000061731
AA Change: I80N
| 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 |
0.0866 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (54/54) |
| 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 |
|---|
| Abcc12 |
T |
C |
8: 87,258,154 (GRCm39) |
|
probably null |
Het |
| Ccser2 |
T |
A |
14: 36,612,337 (GRCm39) |
Q158L |
possibly damaging |
Het |
| Cct7 |
T |
A |
6: 85,445,155 (GRCm39) |
C469S |
probably damaging |
Het |
| Chmp7 |
A |
T |
14: 69,956,650 (GRCm39) |
|
probably null |
Het |
| Clcn4 |
C |
T |
7: 7,299,737 (GRCm39) |
D31N |
possibly damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Ctdp1 |
A |
T |
18: 80,493,172 (GRCm39) |
V441E |
probably benign |
Het |
| Cyp4a10 |
T |
C |
4: 115,389,889 (GRCm39) |
L498P |
probably damaging |
Het |
| Dsc3 |
A |
T |
18: 20,113,811 (GRCm39) |
N370K |
possibly damaging |
Het |
| Dusp12 |
G |
A |
1: 170,708,198 (GRCm39) |
T173M |
probably benign |
Het |
| Ebf3 |
C |
T |
7: 136,826,958 (GRCm39) |
R318Q |
possibly damaging |
Het |
| Epcam |
T |
C |
17: 87,947,962 (GRCm39) |
|
probably null |
Het |
| Erich6 |
G |
T |
3: 58,531,712 (GRCm39) |
A428D |
probably benign |
Het |
| Extl1 |
T |
C |
4: 134,084,969 (GRCm39) |
E667G |
probably damaging |
Het |
| F2 |
T |
G |
2: 91,459,665 (GRCm39) |
|
probably null |
Het |
| Fbxw16 |
T |
C |
9: 109,275,625 (GRCm39) |
I135V |
probably benign |
Het |
| Glipr1l1 |
A |
T |
10: 111,898,252 (GRCm39) |
D119V |
probably benign |
Het |
| Gprc5b |
G |
A |
7: 118,583,437 (GRCm39) |
A144V |
possibly damaging |
Het |
| Lmbrd2 |
G |
A |
15: 9,165,882 (GRCm39) |
R252H |
possibly damaging |
Het |
| Lyst |
A |
G |
13: 13,809,472 (GRCm39) |
T381A |
probably damaging |
Het |
| Mcpt4 |
A |
T |
14: 56,298,444 (GRCm39) |
V97D |
possibly damaging |
Het |
| Nefh |
A |
G |
11: 4,890,066 (GRCm39) |
I851T |
probably benign |
Het |
| Nf1 |
A |
T |
11: 79,275,070 (GRCm39) |
I44F |
probably damaging |
Het |
| Nyap2 |
A |
T |
1: 81,218,811 (GRCm39) |
I278F |
probably damaging |
Het |
| Or4c52 |
A |
T |
2: 89,845,993 (GRCm39) |
T240S |
probably benign |
Het |
| Or4f7d-ps1 |
G |
T |
2: 111,674,789 (GRCm39) |
|
noncoding transcript |
Het |
| Pdcd4 |
C |
A |
19: 53,908,092 (GRCm39) |
P201Q |
probably damaging |
Het |
| Pramel16 |
A |
T |
4: 143,675,713 (GRCm39) |
L371* |
probably null |
Het |
| Prdm11 |
T |
C |
2: 92,823,728 (GRCm39) |
T179A |
probably benign |
Het |
| Qrfpr |
T |
A |
3: 36,243,703 (GRCm39) |
I133F |
probably damaging |
Het |
| Rack1 |
T |
C |
11: 48,692,453 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
C |
5: 22,125,485 (GRCm39) |
C2733G |
probably damaging |
Het |
| Rrs1 |
C |
T |
1: 9,616,448 (GRCm39) |
R234C |
possibly damaging |
Het |
| Sag |
G |
C |
1: 87,772,737 (GRCm39) |
D402H |
probably benign |
Het |
| Sbk3 |
T |
A |
7: 4,972,979 (GRCm39) |
T64S |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Sh3gl1 |
C |
T |
17: 56,326,173 (GRCm39) |
G111D |
probably damaging |
Het |
| Spata20 |
G |
A |
11: 94,373,914 (GRCm39) |
R379W |
probably damaging |
Het |
| St3gal2 |
T |
C |
8: 111,688,991 (GRCm39) |
M177T |
probably benign |
Het |
| Stk39 |
C |
T |
2: 68,221,284 (GRCm39) |
G213D |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,222,603 (GRCm39) |
|
probably benign |
Het |
| Taf1d |
T |
C |
9: 15,219,939 (GRCm39) |
S63P |
probably damaging |
Het |
| Tnfrsf13b |
C |
G |
11: 61,031,643 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
T |
2: 76,554,394 (GRCm39) |
A30807D |
probably damaging |
Het |
| Unc119 |
A |
G |
11: 78,238,948 (GRCm39) |
N158S |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,620,801 (GRCm39) |
I845N |
possibly damaging |
Het |
| Vmn2r12 |
C |
A |
5: 109,239,830 (GRCm39) |
M244I |
probably benign |
Het |
| Zdhhc4 |
A |
G |
5: 143,309,997 (GRCm39) |
V87A |
probably damaging |
Het |
| Zwilch |
A |
G |
9: 64,062,444 (GRCm39) |
|
probably null |
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 |
|
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'- GCCGCTAGAATGTTTTGGTAAC -3'
(R):5'- ACAATCCTCTTGACCCAGGC -3'
Sequencing Primer
(F):5'- GGTAACTTTCGGCGATTTTCTC -3'
(R):5'- TTGACCCAGGCAGGACACATG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation