Mutagenetix > Incidental Mutation

Incidental Mutation 'R8725:Ext1'

673211

Institutional Source

Beutler Lab

Gene Symbol

Ext1

Ensembl Gene

ENSMUSG00000061731

Gene Name

exostosin glycosyltransferase 1

Synonyms

MMRRC Submission

068574-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8725 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52931657-53209579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53208065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 232 (V232A)

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: V232A

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000076505
Gene: ENSMUSG00000061731
AA Change: V232A

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	T	A	14: 103,287,075 (GRCm39)	W69R	probably damaging	Het
Adamtsl4	C	T	3: 95,584,426 (GRCm39)	R990Q	possibly damaging	Het
Ahdc1	T	A	4: 132,792,743 (GRCm39)	V1328E	possibly damaging	Het
Bpifb2	A	G	2: 153,731,356 (GRCm39)	H244R	possibly damaging	Het
Camk1	C	A	6: 113,315,109 (GRCm39)	V199L	probably damaging	Het
Ccdc18	A	T	5: 108,328,283 (GRCm39)	K661I	possibly damaging	Het
Cdh16	C	T	8: 105,344,874 (GRCm39)	V444I	probably benign	Het
Cep295	A	T	9: 15,243,715 (GRCm39)	Y1580*	probably null	Het
Cntnap5c	A	T	17: 58,362,663 (GRCm39)	N339Y	probably damaging	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Deup1	T	A	9: 15,503,721 (GRCm39)	D280V	probably damaging	Het
Dlat	G	T	9: 50,560,967 (GRCm39)	A360E	probably damaging	Het
Evpl	T	A	11: 116,113,019 (GRCm39)	D1557V	probably benign	Het
Gdpd5	T	C	7: 99,105,726 (GRCm39)	I514T	possibly damaging	Het
Gm14443	A	T	2: 175,010,693 (GRCm39)	C584*	probably null	Het
Gm2696	T	A	10: 77,672,034 (GRCm39)	C78S	unknown	Het
Gm4131	T	C	14: 62,701,300 (GRCm39)	D276G	possibly damaging	Het
Gm5114	C	T	7: 39,060,657 (GRCm39)	G64D	probably benign	Het
Gsx2	G	T	5: 75,236,755 (GRCm39)	A112S	probably benign	Het
Hebp1	G	T	6: 135,114,919 (GRCm39)	R181S	probably damaging	Het
Hectd4	G	A	5: 121,488,557 (GRCm39)	G3616D	probably damaging	Het
Hemgn	T	G	4: 46,394,638 (GRCm39)	T491P	probably benign	Het
Idh2	TCCCAGGGCC	TCC	7: 79,748,079 (GRCm39)		probably null	Het
Itsn1	T	C	16: 91,636,721 (GRCm39)	S723P	unknown	Het
Kat6a	G	A	8: 23,398,293 (GRCm39)	G287D	probably damaging	Het
Ktn1	T	G	14: 47,907,757 (GRCm39)		probably benign	Het
Lrrc56	C	A	7: 140,778,246 (GRCm39)	D79E	possibly damaging	Het
Lrrn1	C	T	6: 107,544,303 (GRCm39)	Q34*	probably null	Het
Mlxipl	A	G	5: 135,157,483 (GRCm39)	M340V	probably benign	Het
Mroh6	T	C	15: 75,756,563 (GRCm39)	T604A	possibly damaging	Het
Or13a26	G	T	7: 140,284,607 (GRCm39)	V148L	probably benign	Het
Or1n1	T	A	2: 36,749,610 (GRCm39)	Y250F	probably damaging	Het
Or4c122	A	T	2: 89,079,658 (GRCm39)	S115T	probably benign	Het
Palb2	A	C	7: 121,710,884 (GRCm39)	V1022G	unknown	Het
Pank1	T	G	19: 34,855,989 (GRCm39)	H163P	possibly damaging	Het
Pcdha12	A	G	18: 37,154,736 (GRCm39)	Q485R	probably benign	Het
Pcdhb15	T	A	18: 37,608,734 (GRCm39)	S655R	probably damaging	Het
Pcdhgb1	T	A	18: 37,814,467 (GRCm39)	C319*	probably null	Het
Pipox	A	T	11: 77,774,804 (GRCm39)	L93*	probably null	Het
Pkd1l1	A	C	11: 8,911,482 (GRCm39)	V265G		Het
Pld3	G	A	7: 27,239,079 (GRCm39)	Q149*	probably null	Het
Pramel34	A	T	5: 93,784,316 (GRCm39)	Y383N	probably damaging	Het
Prpf3	T	A	3: 95,748,021 (GRCm39)	T415S	possibly damaging	Het
Rasgef1b	G	A	5: 99,447,895 (GRCm39)	T105I	unknown	Het
Rere	G	T	4: 150,701,792 (GRCm39)	E24*	probably null	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Ric3	A	T	7: 108,637,924 (GRCm39)	D277E	probably benign	Het
Rnf44	A	T	13: 54,831,826 (GRCm39)	M82K	probably damaging	Het
Rsph14	T	C	10: 74,795,516 (GRCm39)	N223S	probably benign	Het
Rusc2	A	G	4: 43,415,396 (GRCm39)	E234G	probably damaging	Het
Scfd2	T	C	5: 74,642,900 (GRCm39)	N349S	probably benign	Het
Sema3d	G	A	5: 12,555,822 (GRCm39)	C183Y	probably damaging	Het
Setd2	T	C	9: 110,402,912 (GRCm39)	I74T		Het
Slc39a12	T	C	2: 14,454,670 (GRCm39)	S563P	probably damaging	Het
Slc9a8	A	T	2: 167,315,454 (GRCm39)	D526V	probably damaging	Het
Smpdl3b	G	T	4: 132,461,060 (GRCm39)	T339N	probably damaging	Het
Speer1e	A	T	5: 11,236,408 (GRCm39)	Q147L	probably benign	Het
Spi1	G	A	2: 90,945,516 (GRCm39)	G199D	probably damaging	Het
Stx2	T	C	5: 129,070,564 (GRCm39)	T118A	probably damaging	Het
Synj2	C	A	17: 6,088,015 (GRCm39)	S1355R	possibly damaging	Het
Taf15	A	G	11: 83,389,964 (GRCm39)	T245A	probably benign	Het
Tnrc6b	C	T	15: 80,760,653 (GRCm39)	A120V	probably damaging	Het
Usp19	G	T	9: 108,370,934 (GRCm39)	G198W	probably damaging	Het
Wdtc1	G	T	4: 133,041,114 (GRCm39)	H46N	probably damaging	Het
Zbtb1	C	A	12: 76,432,646 (GRCm39)	R211S	probably damaging	Het
Zc3h8	A	G	2: 128,775,207 (GRCm39)	V151A	probably benign	Het
Zfp219	T	C	14: 52,244,899 (GRCm39)	T499A	possibly damaging	Het
Zfp689	A	G	7: 127,047,940 (GRCm39)	F31L	probably damaging	Het
Zfp879	C	T	11: 50,729,321 (GRCm39)	D26N	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
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
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'- GAGAATCCTTGTGCTTTTGCCAG -3'
(R):5'- CCAAAGTGCAGAGTCTCCAC -3'

Sequencing Primer
(F):5'- AAGACGTCCTCCCCGTTATGG -3'
(R):5'- CAAAGTGCAGAGTCTCCACTTGTG -3'

Posted On

2021-04-30