Mutagenetix > Incidental Mutation

Incidental Mutation 'R5155:Ext1'

396691

Institutional Source

Beutler Lab

Gene Symbol

Ext1

Ensembl Gene

ENSMUSG00000061731

Gene Name

exostosin glycosyltransferase 1

Synonyms

MMRRC Submission

042737-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5155 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52931657-53209579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 52939213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 612 (W612L)

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: W612L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000076505
Gene: ENSMUSG00000061731
AA Change: W612L

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,482,447 (GRCm39)	V4326A	probably damaging	Het
Actn4	A	G	7: 28,661,442 (GRCm39)		probably null	Het
Adamts8	A	G	9: 30,865,844 (GRCm39)	D464G	probably benign	Het
Adss1	T	C	12: 112,604,642 (GRCm39)	I366T	probably damaging	Het
Alox12e	T	C	11: 70,207,081 (GRCm39)	D575G	possibly damaging	Het
Ankrd44	A	T	1: 54,817,489 (GRCm39)	M73K	probably benign	Het
Ap4e1	A	G	2: 126,905,289 (GRCm39)	T987A	probably benign	Het
Banp	A	C	8: 122,727,759 (GRCm39)	S318R	probably damaging	Het
Bcas1	T	C	2: 170,260,538 (GRCm39)	H47R	probably damaging	Het
Brwd1	G	T	16: 95,803,993 (GRCm39)	S2524*	probably null	Het
Btbd8	T	C	5: 107,638,569 (GRCm39)	I323T	probably damaging	Het
Cand2	T	A	6: 115,769,219 (GRCm39)	D676E	probably benign	Het
Cc2d1a	A	T	8: 84,867,755 (GRCm39)	H224Q	probably benign	Het
Ccdc138	A	T	10: 58,343,394 (GRCm39)	Y83F	probably benign	Het
Ccdc162	A	T	10: 41,429,576 (GRCm39)		probably null	Het
Ccdc162	A	C	10: 41,455,147 (GRCm39)	S396A	probably damaging	Het
Ces1e	A	T	8: 93,928,034 (GRCm39)	*562R	probably null	Het
Clstn2	T	A	9: 97,338,484 (GRCm39)	M892L	probably benign	Het
Crybg3	T	C	16: 59,345,264 (GRCm39)	T2673A	possibly damaging	Het
Cstf3	A	G	2: 104,482,830 (GRCm39)	N326S	probably benign	Het
Cux1	G	A	5: 136,594,295 (GRCm39)		probably benign	Het
Cyb5r4	T	G	9: 86,922,456 (GRCm39)	M155R	probably benign	Het
D130043K22Rik	A	G	13: 25,056,273 (GRCm39)	D535G	probably damaging	Het
Dnah2	G	A	11: 69,313,362 (GRCm39)	P4266S	probably damaging	Het
Dnah7a	T	A	1: 53,682,654 (GRCm39)	N272I	probably benign	Het
Dsg2	A	G	18: 20,731,715 (GRCm39)	Y779C	possibly damaging	Het
Eif4g3	T	A	4: 137,854,054 (GRCm39)	N507K	probably benign	Het
Elavl4	T	C	4: 110,149,833 (GRCm39)	Q3R	probably null	Het
Engase	T	G	11: 118,372,107 (GRCm39)	I133S	probably benign	Het
Ercc5	T	C	1: 44,219,782 (GRCm39)	V1018A	probably damaging	Het
Faap100	T	A	11: 120,268,458 (GRCm39)	E105V	possibly damaging	Het
Fam8a1	G	A	13: 46,827,038 (GRCm39)	A270T	probably benign	Het
Fhdc1	T	G	3: 84,353,457 (GRCm39)	Q589H	probably benign	Het
Gatm	G	A	2: 122,440,334 (GRCm39)	T35I	probably benign	Het
Gcgr	T	C	11: 120,427,872 (GRCm39)	I271T	probably benign	Het
Gm527	T	A	12: 64,970,381 (GRCm39)	Y239N	probably damaging	Het
H2-Ab1	A	G	17: 34,486,358 (GRCm39)	H139R	possibly damaging	Het
Herc2	G	A	7: 55,877,574 (GRCm39)	R4547Q	possibly damaging	Het
Itga1	A	T	13: 115,171,839 (GRCm39)	S89T	probably benign	Het
Kash5	C	A	7: 44,839,078 (GRCm39)	E53*	probably null	Het
Katnip	A	G	7: 125,471,356 (GRCm39)	T1486A	probably damaging	Het
Lrba	A	G	3: 86,258,607 (GRCm39)	M1365V	probably benign	Het
Lrp1b	A	C	2: 41,618,634 (GRCm39)		probably null	Het
Map1a	G	A	2: 121,132,867 (GRCm39)	A990T	probably damaging	Het
Micall2	C	A	5: 139,695,986 (GRCm39)	L784F	probably damaging	Het
Mmp9	T	C	2: 164,790,986 (GRCm39)		probably null	Het
Mrps7	T	A	11: 115,495,655 (GRCm39)	Y64*	probably null	Het
Mslnl	C	T	17: 25,957,942 (GRCm39)	Q62*	probably null	Het
Nfil3	A	G	13: 53,122,616 (GRCm39)	L96P	probably damaging	Het
Or2f1	A	G	6: 42,721,748 (GRCm39)	Y259C	probably damaging	Het
Phf3	T	C	1: 30,863,457 (GRCm39)	D756G	possibly damaging	Het
Plxnd1	C	T	6: 115,935,949 (GRCm39)		probably null	Het
Prickle4	C	T	17: 48,000,982 (GRCm39)		probably null	Het
Prr9	T	A	3: 92,030,356 (GRCm39)	T95S	possibly damaging	Het
Prrc2a	A	G	17: 35,379,067 (GRCm39)		probably null	Het
Prrt3	A	G	6: 113,474,520 (GRCm39)		probably null	Het
Psme4	A	T	11: 30,826,806 (GRCm39)	Y1775F	probably damaging	Het
Pum2	T	C	12: 8,763,572 (GRCm39)	V243A	possibly damaging	Het
Rnf32	T	C	5: 29,408,145 (GRCm39)	S125P	probably damaging	Het
Rnf8	A	G	17: 29,845,604 (GRCm39)	Y65C	probably damaging	Het
Rph3a	T	C	5: 121,086,833 (GRCm39)	T456A	possibly damaging	Het
Scaper	T	A	9: 55,463,370 (GRCm39)	Q854L	probably null	Het
Sez6l2	T	C	7: 126,561,545 (GRCm39)	S472P	probably damaging	Het
Spsb3	T	C	17: 25,105,969 (GRCm39)		probably benign	Het
Srebf2	A	G	15: 82,080,427 (GRCm39)	D40G	probably damaging	Het
Sspo	A	G	6: 48,437,408 (GRCm39)	N1389D	probably benign	Het
Taf4b	G	T	18: 14,963,152 (GRCm39)	A631S	probably benign	Het
Tcstv1b	T	C	13: 120,635,089 (GRCm39)	S124P	probably benign	Het
Tigd4	G	A	3: 84,501,970 (GRCm39)	V296M	possibly damaging	Het
Tsc22d2	T	A	3: 58,324,737 (GRCm39)		probably benign	Het
Uso1	T	A	5: 92,315,194 (GRCm39)		probably null	Het
Vmn2r6	T	G	3: 64,445,935 (GRCm39)	N597H	probably benign	Het
Zfc3h1	T	A	10: 115,248,026 (GRCm39)	S1076R	possibly damaging	Het
Zfp64	T	A	2: 168,748,885 (GRCm39)	Q44L	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
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
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'- CAGTTGTTAGAAATCTCAGCTCC -3'
(R):5'- CGAAACAGTTGTGGGACTCC -3'

Sequencing Primer
(F):5'- TCAGTGTGTAAGAGCACCCGAC -3'
(R):5'- GGGACTCCACGTTATGAATTAGC -3'

Posted On

2016-06-21