Mutagenetix > Incidental Mutation

Incidental Mutation 'R7474:Ext1'

579370

Institutional Source

Beutler Lab

Gene Symbol

Ext1

Ensembl Gene

ENSMUSG00000061731

Gene Name

exostoses (multiple) 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53064038-53346159 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53344489 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 292 (V292D)

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: V292D

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076505
Gene: ENSMUSG00000061731
AA Change: V292D

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: 99.7%
20x: 98.9%

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	A	11: 9,328,088	C3089*	probably null	Het
Abcc1	A	G	16: 14,472,986	T1487A	possibly damaging	Het
Agfg1	T	A	1: 82,882,411	L333*	probably null	Het
Agfg2	C	A	5: 137,653,868	V410F	possibly damaging	Het
Amotl2	T	C	9: 102,730,111	V706A	probably benign	Het
Apob	A	T	12: 8,009,185	T2556S	probably benign	Het
Asb18	T	A	1: 89,993,033	H174L	possibly damaging	Het
Atp10a	G	A	7: 58,658,527	E25K	unknown	Het
Aup1	T	C	6: 83,054,967	L65P	probably benign	Het
Blvra	T	C	2: 127,086,849	F86L	probably damaging	Het
Cabp4	T	C	19: 4,139,399	D53G	probably benign	Het
Cd300c2	T	A	11: 114,998,296	E153V	probably benign	Het
Crxos	A	G	7: 15,902,931	E143G	possibly damaging	Het
Csmd2	A	G	4: 128,546,127	N3125D		Het
Cyp2c67	T	A	19: 39,617,432	Q340L	probably null	Het
Dscam	T	A	16: 96,819,889	N540Y	possibly damaging	Het
E2f8	G	A	7: 48,875,760	R155W	probably damaging	Het
Extl3	T	C	14: 65,076,641	E364G	possibly damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,609,203		probably benign	Het
Fsd1	A	T	17: 55,988,149	D46V	possibly damaging	Het
Gcnt2	T	A	13: 40,958,257	L374H	probably damaging	Het
Gm10309	G	A	17: 86,504,667		probably benign	Het
Gm13084	T	C	4: 143,811,699	D234G	probably benign	Het
Gm14410	A	T	2: 177,202,825		probably null	Het
Gm5114	A	T	7: 39,407,980	S738R	probably benign	Het
Gtf3c2	C	A	5: 31,167,756	G502W	probably damaging	Het
Insc	G	A	7: 114,768,823		probably null	Het
Kcnt2	T	C	1: 140,570,478	Y898H	possibly damaging	Het
Kctd19	C	A	8: 105,392,032	R299L	probably benign	Het
Klf10	T	C	15: 38,297,202	N198S	probably benign	Het
L3mbtl1	A	T	2: 162,966,604	D574V	probably damaging	Het
Lamc1	G	A	1: 153,332,265	A92V	possibly damaging	Het
Lrrc63	T	A	14: 75,126,203	T163S	possibly damaging	Het
Mak	T	A	13: 41,051,480	K127N	probably damaging	Het
Mdga2	G	A	12: 66,486,761	Q945*	probably null	Het
Mthfr	T	A	4: 148,052,602	I519N	possibly damaging	Het
Mtmr2	C	A	9: 13,799,225	H357N	probably damaging	Het
Myh13	A	T	11: 67,327,164	E21V	possibly damaging	Het
Myh13	A	C	11: 67,367,711	Q184P		Het
Nans	T	A	4: 46,502,484	L307Q	probably damaging	Het
Ncan	C	A	8: 70,102,041	R1042L	possibly damaging	Het
Nrg3	T	C	14: 39,011,999	E310G	probably damaging	Het
Obsl1	A	C	1: 75,498,184	N857K	probably benign	Het
Olfml2a	T	C	2: 38,960,261	V663A	probably damaging	Het
Olfr1104	T	C	2: 87,022,554		probably benign	Het
Olfr116	T	C	17: 37,624,386	D83G	probably benign	Het
Olfr213	G	T	6: 116,541,038	C195F	probably damaging	Het
Olfr603	A	G	7: 103,383,762	I80T	probably damaging	Het
Olfr621-ps1	C	A	7: 103,629,147	W271L	unknown	Het
Pla2g4a	T	C	1: 149,865,200	M363V	possibly damaging	Het
Prickle1	A	T	15: 93,508,671	V157D	possibly damaging	Het
Pstk	A	G	7: 131,373,633	N105S	probably benign	Het
Ptpn21	A	G	12: 98,737,363		probably null	Het
Rnf2	T	A	1: 151,471,716	E277D	probably benign	Het
Rnpepl1	T	C	1: 92,918,972	F532S	probably benign	Het
Rtn1	C	T	12: 72,308,390	A261T	possibly damaging	Het
Ryr2	A	G	13: 11,594,876	S4355P	probably benign	Het
Sacs	T	G	14: 61,211,178	L3558V	probably benign	Het
Senp6	T	C	9: 80,142,328	V1047A	probably damaging	Het
Slco2b1	A	T	7: 99,664,832	C515S	probably damaging	Het
Smgc	T	A	15: 91,860,694	V732E	possibly damaging	Het
Sorcs1	T	C	19: 50,153,112	M1105V	possibly damaging	Het
Spats1	A	G	17: 45,457,161	Y160H	possibly damaging	Het
Tnfsf14	T	A	17: 57,190,848	D128V		Het
Tns3	T	C	11: 8,530,894	Q234R	probably damaging	Het
Uxs1	A	G	1: 43,757,024	V306A	possibly damaging	Het
Vac14	T	A	8: 110,636,434	V304D	probably damaging	Het
Vangl1	A	G	3: 102,184,249	F174L	probably benign	Het
Vav1	A	G	17: 57,299,102	E242G	probably benign	Het
Vsir	A	G	10: 60,368,922	N305D	probably benign	Het
Vwce	T	A	19: 10,646,941	C399S	possibly damaging	Het
Wrn	A	T	8: 33,329,181	L248M	probably damaging	Het
Zfp141	T	A	7: 42,476,254	K265*	probably null	Het
Zfp735	A	T	11: 73,711,176	K315N	possibly damaging	Het

Other mutations in Ext1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00710:Ext1	APN	15	53344873	missense	probably damaging	1.00
IGL02081:Ext1	APN	15	53073446	nonsense	probably null
IGL03147:Ext1	UTSW	15	53088072	missense	probably damaging	0.98
R0047:Ext1	UTSW	15	53345146	missense	probably benign
R0047:Ext1	UTSW	15	53345146	missense	probably benign
R0437:Ext1	UTSW	15	53106106	missense	probably damaging	1.00
R0881:Ext1	UTSW	15	53344483	missense	probably benign	0.23
R1882:Ext1	UTSW	15	53075792	missense	probably damaging	1.00
R2135:Ext1	UTSW	15	53101744	missense	possibly damaging	0.88
R2175:Ext1	UTSW	15	53068728	missense	probably damaging	1.00
R2762:Ext1	UTSW	15	53344927	missense	probably benign	0.29
R3162:Ext1	UTSW	15	53344604	missense	possibly damaging	0.82
R3162:Ext1	UTSW	15	53344604	missense	possibly damaging	0.82
R3752:Ext1	UTSW	15	53075910	missense	probably damaging	1.00
R3815:Ext1	UTSW	15	53345089	missense	probably benign	0.05
R4096:Ext1	UTSW	15	53073357	missense	probably damaging	1.00
R4298:Ext1	UTSW	15	53345125	missense	probably benign	0.02
R4362:Ext1	UTSW	15	53107591	intron	probably benign
R4550:Ext1	UTSW	15	53101786	missense	probably damaging	0.99
R4647:Ext1	UTSW	15	53089987	missense	possibly damaging	0.95
R4648:Ext1	UTSW	15	53089987	missense	possibly damaging	0.95
R4871:Ext1	UTSW	15	53092377	missense	probably benign	0.37
R4954:Ext1	UTSW	15	53344492	missense	probably damaging	1.00
R5010:Ext1	UTSW	15	53092412	missense	probably damaging	1.00
R5153:Ext1	UTSW	15	53075817	missense	probably damaging	1.00
R5155:Ext1	UTSW	15	53075817	missense	probably damaging	1.00
R5328:Ext1	UTSW	15	53075817	missense	probably damaging	1.00
R5385:Ext1	UTSW	15	53075817	missense	probably damaging	1.00
R5542:Ext1	UTSW	15	53075817	missense	probably damaging	1.00
R5555:Ext1	UTSW	15	53088143	missense	probably damaging	1.00
R5779:Ext1	UTSW	15	53344553	missense	probably damaging	0.99
R5874:Ext1	UTSW	15	53101752	missense	possibly damaging	0.61
R6401:Ext1	UTSW	15	53106097	missense	possibly damaging	0.94
R6604:Ext1	UTSW	15	53083159	missense	probably damaging	0.99
R6847:Ext1	UTSW	15	53345154	missense	probably benign
R6885:Ext1	UTSW	15	53101692	missense	probably damaging	1.00
R7212:Ext1	UTSW	15	53345162	missense	probably benign	0.00
R7315:Ext1	UTSW	15	53073387	missense	probably damaging	1.00
R7361:Ext1	UTSW	15	53344723	missense	probably damaging	1.00
R7853:Ext1	UTSW	15	53107485	missense	probably damaging	0.96
R7860:Ext1	UTSW	15	53089939	missense	possibly damaging	0.84
R8013:Ext1	UTSW	15	53075887	missense	possibly damaging	0.78
R8014:Ext1	UTSW	15	53075887	missense	possibly damaging	0.78
R8725:Ext1	UTSW	15	53344669	missense	possibly damaging	0.91
R8888:Ext1	UTSW	15	53092327	missense	probably damaging	1.00
R9162:Ext1	UTSW	15	53345108	nonsense	probably null
R9342:Ext1	UTSW	15	53345128	missense	probably benign
R9587:Ext1	UTSW	15	53092412	missense	possibly damaging	0.53
R9663:Ext1	UTSW	15	53345060	missense	probably damaging	0.96
R9753:Ext1	UTSW	15	53344671	missense	probably damaging	1.00
X0021:Ext1	UTSW	15	53345273	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAACTGAGGGCTTCTGTCTC -3'
(R):5'- CTGAAAACTTCCGACCAAACTTTG -3'

Sequencing Primer
(F):5'- GAGGGCTTCTGTCTCCACCC -3'
(R):5'- AACTTCCGACCAAACTTTGATGTTTC -3'

Posted On

2019-10-07