Incidental Mutation 'R5010:Ext1'
ID |
390458 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ext1
|
Ensembl Gene |
ENSMUSG00000061731 |
Gene Name |
exostosin glycosyltransferase 1 |
Synonyms |
|
MMRRC Submission |
042601-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5010 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
52931657-53209579 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 52955808 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 430
(I430F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076505
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077273]
[ENSMUST00000110244]
[ENSMUST00000133362]
|
AlphaFold |
P97464 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077273
AA Change: I430F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000076505 Gene: ENSMUSG00000061731 AA Change: I430F
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 |
noncoding transcript
Transcript: ENSMUST00000110244
|
SMART Domains |
Protein: ENSMUSP00000105873 Gene: ENSMUSG00000061731
Domain | Start | End | E-Value | Type |
Pfam:Exostosin
|
4 |
82 |
1.1e-29 |
PFAM |
Pfam:Glyco_transf_64
|
166 |
239 |
2.3e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133362
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140798
|
Meta Mutation Damage Score |
0.2291 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
Validation Efficiency |
98% (65/66) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810065E05Rik |
C |
T |
11: 58,313,630 (GRCm39) |
A86V |
possibly damaging |
Het |
9430097D07Rik |
A |
G |
2: 32,464,440 (GRCm39) |
|
probably benign |
Het |
Actr5 |
T |
A |
2: 158,477,283 (GRCm39) |
D411E |
probably benign |
Het |
Ang5 |
A |
G |
14: 44,200,302 (GRCm39) |
D122G |
probably benign |
Het |
Atg9a |
A |
T |
1: 75,162,704 (GRCm39) |
|
probably null |
Het |
Cracd |
G |
C |
5: 76,805,681 (GRCm39) |
|
probably benign |
Het |
Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
Ddx11 |
G |
A |
17: 66,454,717 (GRCm39) |
V642M |
possibly damaging |
Het |
Dis3l2 |
G |
A |
1: 86,688,043 (GRCm39) |
V100I |
probably benign |
Het |
Echdc2 |
T |
C |
4: 108,029,328 (GRCm39) |
V111A |
probably benign |
Het |
Egr1 |
A |
G |
18: 34,996,711 (GRCm39) |
T498A |
probably benign |
Het |
Exosc3 |
T |
C |
4: 45,317,702 (GRCm39) |
K200R |
possibly damaging |
Het |
Exosc8 |
T |
C |
3: 54,636,644 (GRCm39) |
D229G |
probably benign |
Het |
Fbxw22 |
T |
C |
9: 109,232,492 (GRCm39) |
N31S |
probably benign |
Het |
Gja8 |
T |
C |
3: 96,827,165 (GRCm39) |
T166A |
probably benign |
Het |
Gm21814 |
T |
A |
6: 149,485,116 (GRCm39) |
|
noncoding transcript |
Het |
Gm21915 |
T |
A |
9: 40,581,944 (GRCm39) |
H12Q |
probably benign |
Het |
Hgsnat |
G |
A |
8: 26,437,988 (GRCm39) |
R527* |
probably null |
Het |
Iqgap2 |
A |
G |
13: 95,810,251 (GRCm39) |
F731S |
probably benign |
Het |
Jchain |
T |
C |
5: 88,670,364 (GRCm39) |
H85R |
probably damaging |
Het |
Kcnb2 |
T |
C |
1: 15,383,186 (GRCm39) |
C171R |
probably benign |
Het |
Kcnk3 |
C |
A |
5: 30,780,149 (GRCm39) |
R400S |
possibly damaging |
Het |
Klhl28 |
C |
T |
12: 65,004,001 (GRCm39) |
E171K |
probably damaging |
Het |
Lrrfip2 |
T |
C |
9: 111,053,040 (GRCm39) |
I375T |
possibly damaging |
Het |
Mccc1 |
T |
C |
3: 36,033,166 (GRCm39) |
N326S |
probably benign |
Het |
Med13l |
T |
C |
5: 118,731,615 (GRCm39) |
V97A |
possibly damaging |
Het |
Mertk |
C |
A |
2: 128,625,920 (GRCm39) |
T685K |
probably benign |
Het |
Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
Myom2 |
G |
A |
8: 15,133,310 (GRCm39) |
V401M |
probably damaging |
Het |
Nme5 |
A |
C |
18: 34,711,738 (GRCm39) |
M1R |
probably null |
Het |
Nop2 |
T |
C |
6: 125,110,726 (GRCm39) |
S68P |
probably benign |
Het |
Notch1 |
A |
T |
2: 26,366,126 (GRCm39) |
D809E |
possibly damaging |
Het |
Or14c39 |
T |
C |
7: 86,343,793 (GRCm39) |
I43T |
possibly damaging |
Het |
Ppat |
C |
T |
5: 77,076,525 (GRCm39) |
|
probably benign |
Het |
Prss23 |
T |
A |
7: 89,159,422 (GRCm39) |
M216L |
probably benign |
Het |
Psg18 |
A |
T |
7: 18,083,279 (GRCm39) |
V171D |
probably damaging |
Het |
Psg28 |
A |
G |
7: 18,161,816 (GRCm39) |
V229A |
probably damaging |
Het |
Qser1 |
T |
C |
2: 104,618,176 (GRCm39) |
N879D |
possibly damaging |
Het |
Rpap1 |
T |
C |
2: 119,600,522 (GRCm39) |
N879S |
probably benign |
Het |
Rusc2 |
T |
C |
4: 43,415,926 (GRCm39) |
S411P |
probably damaging |
Het |
Rxfp2 |
T |
A |
5: 149,990,825 (GRCm39) |
W519R |
probably damaging |
Het |
Scpep1 |
T |
A |
11: 88,832,175 (GRCm39) |
Q185L |
probably benign |
Het |
Serpinb11 |
A |
G |
1: 107,307,379 (GRCm39) |
N270S |
probably benign |
Het |
Serpinb6d |
T |
A |
13: 33,855,427 (GRCm39) |
M367K |
probably benign |
Het |
Skint10 |
T |
G |
4: 112,584,869 (GRCm39) |
I213L |
probably benign |
Het |
Skint5 |
T |
C |
4: 113,403,734 (GRCm39) |
T1163A |
unknown |
Het |
Slamf9 |
A |
T |
1: 172,303,780 (GRCm39) |
I42L |
possibly damaging |
Het |
Slc1a3 |
T |
C |
15: 8,680,330 (GRCm39) |
|
probably benign |
Het |
Smad6 |
T |
A |
9: 63,861,182 (GRCm39) |
Q371L |
possibly damaging |
Het |
Snx31 |
A |
T |
15: 36,555,469 (GRCm39) |
V26E |
probably damaging |
Het |
Spata31e5 |
A |
G |
1: 28,816,943 (GRCm39) |
I363T |
possibly damaging |
Het |
Taf4b |
A |
G |
18: 14,955,229 (GRCm39) |
N594S |
possibly damaging |
Het |
Tanc2 |
T |
C |
11: 105,670,918 (GRCm39) |
S172P |
probably damaging |
Het |
Tas2r110 |
T |
A |
6: 132,845,438 (GRCm39) |
Y156* |
probably null |
Het |
Tbc1d20 |
G |
A |
2: 152,135,856 (GRCm39) |
|
probably benign |
Het |
Timm50 |
A |
T |
7: 28,006,284 (GRCm39) |
D272E |
probably benign |
Het |
Ttn |
T |
G |
2: 76,730,855 (GRCm39) |
|
probably benign |
Het |
Vps13c |
T |
A |
9: 67,823,661 (GRCm39) |
F1362I |
probably benign |
Het |
Vwf |
T |
C |
6: 125,543,220 (GRCm39) |
S154P |
probably benign |
Het |
Zfp445 |
T |
C |
9: 122,681,410 (GRCm39) |
R844G |
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 |
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'- GGGCTCAGACAACAATCTCC -3'
(R):5'- TCTGTACACTGTACTTGAGGTGC -3'
Sequencing Primer
(F):5'- CCCTGGCTATTGGGAAGAATAACC -3'
(R):5'- ACACTGTACTTGAGGTGCTTTGTC -3'
|
Posted On |
2016-06-06 |