Incidental Mutation 'R3162:Ext1'
ID |
349866 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ext1
|
Ensembl Gene |
ENSMUSG00000061731 |
Gene Name |
exostosin glycosyltransferase 1 |
Synonyms |
|
MMRRC Submission |
040613-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3162 (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 53208000 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 254
(N254D)
|
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: N254D
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000076505 Gene: ENSMUSG00000061731 AA Change: N254D
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 |
0.0803 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
98% (62/63) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
T |
A |
15: 59,888,134 (GRCm39) |
E102V |
probably damaging |
Het |
9930014A18Rik |
A |
T |
15: 60,695,296 (GRCm39) |
V150E |
probably damaging |
Het |
Adcy9 |
A |
G |
16: 4,129,452 (GRCm39) |
L715P |
probably damaging |
Het |
Atad2b |
C |
A |
12: 4,989,689 (GRCm39) |
N133K |
possibly damaging |
Het |
AW551984 |
C |
A |
9: 39,504,325 (GRCm39) |
R547L |
probably damaging |
Het |
B3galt6 |
A |
G |
4: 156,076,464 (GRCm39) |
Y204H |
probably benign |
Het |
Camk1g |
T |
C |
1: 193,042,115 (GRCm39) |
T45A |
possibly damaging |
Het |
Caps2 |
C |
A |
10: 112,018,391 (GRCm39) |
Y180* |
probably null |
Het |
Cfap54 |
T |
A |
10: 92,881,140 (GRCm39) |
K349N |
probably damaging |
Het |
Copa |
T |
A |
1: 171,918,800 (GRCm39) |
C127S |
probably damaging |
Het |
Dapk2 |
T |
G |
9: 66,161,893 (GRCm39) |
V267G |
probably damaging |
Het |
Ddb1 |
T |
C |
19: 10,603,335 (GRCm39) |
L881P |
probably damaging |
Het |
Decr1 |
T |
A |
4: 15,930,972 (GRCm39) |
D120V |
probably damaging |
Het |
Dennd1c |
C |
T |
17: 57,373,562 (GRCm39) |
G637D |
possibly damaging |
Het |
Dhrs3 |
A |
G |
4: 144,646,016 (GRCm39) |
D108G |
possibly damaging |
Het |
Disp1 |
T |
C |
1: 182,868,806 (GRCm39) |
K1205E |
probably benign |
Het |
Dusp6 |
T |
C |
10: 99,099,944 (GRCm39) |
Y131H |
probably damaging |
Het |
Eif2b2 |
A |
T |
12: 85,266,435 (GRCm39) |
M34L |
probably benign |
Het |
Errfi1 |
G |
A |
4: 150,951,816 (GRCm39) |
E415K |
probably damaging |
Het |
Gm13141 |
GGTTTCTTGATGCC |
G |
4: 147,612,561 (GRCm39) |
|
noncoding transcript |
Het |
Hnrnpu |
T |
C |
1: 178,158,690 (GRCm39) |
|
probably benign |
Het |
Hpx |
C |
T |
7: 105,248,847 (GRCm39) |
|
probably benign |
Het |
Hyal3 |
T |
A |
9: 107,464,005 (GRCm39) |
C407S |
probably damaging |
Het |
Insr |
T |
G |
8: 3,211,416 (GRCm39) |
N1141T |
possibly damaging |
Het |
Ipo9 |
T |
C |
1: 135,337,214 (GRCm39) |
T174A |
probably benign |
Het |
Ivd |
T |
C |
2: 118,692,650 (GRCm39) |
|
probably null |
Het |
Leprot |
C |
T |
4: 101,515,090 (GRCm39) |
T89I |
probably damaging |
Het |
Msh6 |
T |
C |
17: 88,292,909 (GRCm39) |
Y555H |
probably damaging |
Het |
Nup155 |
G |
T |
15: 8,177,867 (GRCm39) |
R1083S |
possibly damaging |
Het |
Nusap1 |
A |
T |
2: 119,460,885 (GRCm39) |
Q126L |
possibly damaging |
Het |
Or13c7b |
T |
A |
4: 43,820,544 (GRCm39) |
K272N |
probably benign |
Het |
Or5al1 |
T |
C |
2: 85,990,439 (GRCm39) |
I92V |
probably benign |
Het |
Or6x1 |
G |
T |
9: 40,098,901 (GRCm39) |
Q163H |
probably benign |
Het |
Or7a35 |
C |
A |
10: 78,853,438 (GRCm39) |
T94N |
probably benign |
Het |
Pdik1l |
A |
G |
4: 134,011,561 (GRCm39) |
L94S |
probably damaging |
Het |
Pkdrej |
T |
A |
15: 85,700,818 (GRCm39) |
D1706V |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,368,924 (GRCm39) |
I856M |
probably damaging |
Het |
Prkcz |
A |
T |
4: 155,374,981 (GRCm39) |
D114E |
probably benign |
Het |
Psap |
T |
C |
10: 60,113,575 (GRCm39) |
L4P |
possibly damaging |
Het |
Ptprk |
T |
C |
10: 28,468,822 (GRCm39) |
V1402A |
probably benign |
Het |
Rai14 |
T |
C |
15: 10,633,250 (GRCm39) |
T47A |
possibly damaging |
Het |
Rlf |
A |
G |
4: 121,006,044 (GRCm39) |
S979P |
probably damaging |
Het |
Skic2 |
C |
T |
17: 35,066,789 (GRCm39) |
W88* |
probably null |
Het |
Skic8 |
T |
A |
9: 54,631,473 (GRCm39) |
|
probably benign |
Het |
Srbd1 |
A |
T |
17: 86,437,643 (GRCm39) |
D233E |
probably benign |
Het |
Tacr2 |
A |
G |
10: 62,101,024 (GRCm39) |
D378G |
probably benign |
Het |
Taok2 |
A |
G |
7: 126,474,347 (GRCm39) |
I294T |
possibly damaging |
Het |
Tert |
A |
G |
13: 73,775,528 (GRCm39) |
E93G |
possibly damaging |
Het |
Tns2 |
A |
G |
15: 102,021,771 (GRCm39) |
E1118G |
possibly damaging |
Het |
Ttc22 |
A |
T |
4: 106,480,276 (GRCm39) |
I177F |
probably damaging |
Het |
Vmn2r86 |
T |
C |
10: 130,291,673 (GRCm39) |
R31G |
probably damaging |
Het |
Wnt5a |
T |
C |
14: 28,244,445 (GRCm39) |
Y231H |
probably benign |
Het |
Zw10 |
T |
C |
9: 48,988,860 (GRCm39) |
Y709H |
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 |
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 |
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'- GTCACAGCGAGAATCCTTGTG -3'
(R):5'- GTCTCCACTTGTGGAACAATGG -3'
Sequencing Primer
(F):5'- ACAGCGAGAATCCTTGTGCTTTTG -3'
(R):5'- CCACTTGTGGAACAATGGTAGGAATC -3'
|
Posted On |
2015-10-08 |