Mutagenetix > Incidental Mutation

Incidental Mutation 'R5328:Ext1'

422175

Institutional Source

Beutler Lab

Gene Symbol

Ext1

Ensembl Gene

ENSMUSG00000061731

Gene Name

exostoses (multiple) 1

Synonyms

MMRRC Submission

042843-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5328 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53064038-53346159 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 53075817 bp (GRCm38)

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,837,694 (GRCm38)	V860E	possibly damaging	Het
Abcc6	T	C	7: 45,992,311 (GRCm38)	D881G	probably benign	Het
Abcc9	A	G	6: 142,682,059 (GRCm38)	V415A	probably benign	Het
Adgrb3	A	C	1: 25,094,275 (GRCm38)	N1003K	possibly damaging	Het
Adora3	C	T	3: 105,907,303 (GRCm38)	T123I	probably benign	Het
Amotl2	A	C	9: 102,723,768 (GRCm38)	T345P	probably benign	Het
Arap3	C	T	18: 37,991,687 (GRCm38)	E247K	possibly damaging	Het
Atp8b1	A	T	18: 64,531,391 (GRCm38)	D1235E	probably benign	Het
Axl	A	T	7: 25,773,411 (GRCm38)	V400E	probably damaging	Het
Brd8	T	A	18: 34,607,981 (GRCm38)	N431Y	probably benign	Het
Cadps	A	T	14: 12,457,790 (GRCm38)	N1025K	probably benign	Het
Cblc	A	T	7: 19,792,580 (GRCm38)	S195T	possibly damaging	Het
Chd2	C	T	7: 73,463,681 (GRCm38)	A1184T	possibly damaging	Het
Chst10	G	A	1: 38,895,962 (GRCm38)		probably benign	Het
Col12a1	T	C	9: 79,620,060 (GRCm38)	K2663E	probably damaging	Het
Cspg4	A	T	9: 56,885,856 (GRCm38)	I292L	probably benign	Het
Cul1	T	C	6: 47,508,317 (GRCm38)	V294A	probably damaging	Het
Cyp2d11	G	A	15: 82,391,771 (GRCm38)	P203L	probably benign	Het
Dscam	T	C	16: 96,673,678 (GRCm38)	H1228R	probably benign	Het
Eif3l	A	T	15: 79,093,361 (GRCm38)	K534*	probably null	Het
Enpep	T	C	3: 129,280,510 (GRCm38)	E796G	probably benign	Het
Faap100	T	A	11: 120,377,632 (GRCm38)	E105V	possibly damaging	Het
Fam117a	T	A	11: 95,364,170 (GRCm38)		probably null	Het
Fan1	A	T	7: 64,354,469 (GRCm38)	Y750N	probably damaging	Het
Fat4	T	A	3: 38,956,868 (GRCm38)	I2039N	probably damaging	Het
Gabrr2	G	T	4: 33,082,565 (GRCm38)	D106Y	probably damaging	Het
Gak	A	C	5: 108,617,001 (GRCm38)	C145G	possibly damaging	Het
Galnt14	A	T	17: 73,505,459 (GRCm38)	N406K	possibly damaging	Het
Gm10439	T	G	X: 149,636,163 (GRCm38)	*434E	probably null	Het
Gm10837	G	T	14: 122,490,778 (GRCm38)	R22L	unknown	Het
Gm19965	T	A	1: 116,821,418 (GRCm38)	H276Q	possibly damaging	Het
Gm43517	T	C	12: 49,391,156 (GRCm38)		probably benign	Het
Gm9733	T	C	3: 15,332,174 (GRCm38)	M17V	unknown	Het
Greb1l	A	T	18: 10,553,720 (GRCm38)	I1574F	probably damaging	Het
Gzme	G	A	14: 56,117,767 (GRCm38)	H236Y	probably benign	Het
Heatr5b	G	A	17: 78,826,362 (GRCm38)	T266I	possibly damaging	Het
Hk3	T	C	13: 55,013,493 (GRCm38)	I185V	probably benign	Het
Hnrnpr	A	G	4: 136,339,216 (GRCm38)	E302G	probably benign	Het
Itgal	T	C	7: 127,311,675 (GRCm38)		probably null	Het
Itk	A	G	11: 46,331,876 (GRCm38)	S583P	probably benign	Het
Loxhd1	A	T	18: 77,410,572 (GRCm38)	I1448F	probably damaging	Het
Macf1	GCCCCC	GCCCCCC	4: 123,350,991 (GRCm38)		probably null	Het
Man2a2	A	T	7: 80,368,756 (GRCm38)	F118L	probably benign	Het
Mfsd5	T	A	15: 102,281,012 (GRCm38)	V273E	probably damaging	Het
Nfe2l2	A	G	2: 75,676,856 (GRCm38)	L300P	probably damaging	Het
Nt5c1a	T	G	4: 123,208,993 (GRCm38)	L122R	possibly damaging	Het
Nt5c3b	A	G	11: 100,440,241 (GRCm38)	F42S	probably damaging	Het
Olfr332	C	A	11: 58,490,429 (GRCm38)	A109S	possibly damaging	Het
Olfr577	T	A	7: 102,973,968 (GRCm38)	N8I	possibly damaging	Het
Pabpc1	A	T	15: 36,602,877 (GRCm38)	D204E	probably benign	Het
Panx2	A	G	15: 89,068,095 (GRCm38)	N255S	probably damaging	Het
Pcnt	A	G	10: 76,411,719 (GRCm38)	L993P	probably damaging	Het
Pfas	A	T	11: 68,988,592 (GRCm38)	C1160S	probably damaging	Het
Plekhh3	T	A	11: 101,167,658 (GRCm38)		probably benign	Het
Plod3	T	A	5: 136,989,683 (GRCm38)	N258K	probably damaging	Het
Prr14l	T	C	5: 32,830,021 (GRCm38)	Q710R	probably benign	Het
Rnf216	G	T	5: 143,092,999 (GRCm38)	T65K	possibly damaging	Het
Samd9l	T	C	6: 3,376,739 (GRCm38)	E174G	probably damaging	Het
Sept12	T	A	16: 4,993,993 (GRCm38)	M63L	possibly damaging	Het
Sh3bgrl2	T	A	9: 83,577,456 (GRCm38)	D22E	probably benign	Het
Skil	A	G	3: 31,117,569 (GRCm38)	K488R	probably benign	Het
Slamf6	T	A	1: 171,938,095 (GRCm38)	I262K	probably benign	Het
Slc27a3	T	C	3: 90,386,832 (GRCm38)	D470G	probably damaging	Het
Sorbs3	A	T	14: 70,181,174 (GRCm38)	V680E	probably damaging	Het
Sox9	C	T	11: 112,782,658 (GRCm38)	T25I	probably benign	Het
Srsf1	G	T	11: 88,049,993 (GRCm38)		probably benign	Het
Stard9	A	C	2: 120,699,230 (GRCm38)	E1989D	probably damaging	Het
Thumpd2	T	A	17: 81,044,162 (GRCm38)	I277F	possibly damaging	Het
Tinag	C	A	9: 77,005,631 (GRCm38)	G299*	probably null	Het
Tk2	A	T	8: 104,229,299 (GRCm38)		probably null	Het
Tmem44	A	G	16: 30,540,891 (GRCm38)	S210P	possibly damaging	Het
Traf3ip1	C	A	1: 91,520,069 (GRCm38)	P423T	probably damaging	Het
Trmt12	A	G	15: 58,872,855 (GRCm38)	D34G	probably damaging	Het
Ttc39b	A	G	4: 83,261,941 (GRCm38)	Y72H	probably damaging	Het
Ttn	G	A	2: 76,878,411 (GRCm38)		probably benign	Het
Ttyh2	T	A	11: 114,710,068 (GRCm38)	I381N	possibly damaging	Het
Uaca	A	T	9: 60,870,532 (GRCm38)	N734Y	probably benign	Het
Usp34	G	A	11: 23,488,659 (GRCm38)	G3407D	probably benign	Het
Usp34	T	C	11: 23,464,616 (GRCm38)	I2853T	probably benign	Het
Vmn2r78	A	G	7: 86,921,030 (GRCm38)	Y252C	probably damaging	Het
Wdr19	G	A	5: 65,244,179 (GRCm38)	C979Y	probably damaging	Het
Wdr92	C	A	11: 17,222,220 (GRCm38)	P103Q	probably damaging	Het
Yeats2	A	T	16: 20,171,205 (GRCm38)	H277L	probably damaging	Het
Zbtb2	T	C	10: 4,369,267 (GRCm38)	Y253C	possibly damaging	Het
Zfat	C	A	15: 68,179,828 (GRCm38)	G706C	probably damaging	Het
Zfp106	A	T	2: 120,520,417 (GRCm38)	N1584K	possibly damaging	Het

Other mutations in Ext1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00710:Ext1	APN	15	53,344,873 (GRCm38)	missense	probably damaging	1.00
IGL02081:Ext1	APN	15	53,073,446 (GRCm38)	nonsense	probably null
IGL03147:Ext1	UTSW	15	53,088,072 (GRCm38)	missense	probably damaging	0.98
R0047:Ext1	UTSW	15	53,345,146 (GRCm38)	missense	probably benign
R0047:Ext1	UTSW	15	53,345,146 (GRCm38)	missense	probably benign
R0437:Ext1	UTSW	15	53,106,106 (GRCm38)	missense	probably damaging	1.00
R0881:Ext1	UTSW	15	53,344,483 (GRCm38)	missense	probably benign	0.23
R1882:Ext1	UTSW	15	53,075,792 (GRCm38)	missense	probably damaging	1.00
R2135:Ext1	UTSW	15	53,101,744 (GRCm38)	missense	possibly damaging	0.88
R2175:Ext1	UTSW	15	53,068,728 (GRCm38)	missense	probably damaging	1.00
R2762:Ext1	UTSW	15	53,344,927 (GRCm38)	missense	probably benign	0.29
R3162:Ext1	UTSW	15	53,344,604 (GRCm38)	missense	possibly damaging	0.82
R3162:Ext1	UTSW	15	53,344,604 (GRCm38)	missense	possibly damaging	0.82
R3752:Ext1	UTSW	15	53,075,910 (GRCm38)	missense	probably damaging	1.00
R3815:Ext1	UTSW	15	53,345,089 (GRCm38)	missense	probably benign	0.05
R4096:Ext1	UTSW	15	53,073,357 (GRCm38)	missense	probably damaging	1.00
R4298:Ext1	UTSW	15	53,345,125 (GRCm38)	missense	probably benign	0.02
R4362:Ext1	UTSW	15	53,107,591 (GRCm38)	intron	probably benign
R4550:Ext1	UTSW	15	53,101,786 (GRCm38)	missense	probably damaging	0.99
R4647:Ext1	UTSW	15	53,089,987 (GRCm38)	missense	possibly damaging	0.95
R4648:Ext1	UTSW	15	53,089,987 (GRCm38)	missense	possibly damaging	0.95
R4871:Ext1	UTSW	15	53,092,377 (GRCm38)	missense	probably benign	0.37
R4954:Ext1	UTSW	15	53,344,492 (GRCm38)	missense	probably damaging	1.00
R5010:Ext1	UTSW	15	53,092,412 (GRCm38)	missense	probably damaging	1.00
R5153:Ext1	UTSW	15	53,075,817 (GRCm38)	missense	probably damaging	1.00
R5155:Ext1	UTSW	15	53,075,817 (GRCm38)	missense	probably damaging	1.00
R5385:Ext1	UTSW	15	53,075,817 (GRCm38)	missense	probably damaging	1.00
R5542:Ext1	UTSW	15	53,075,817 (GRCm38)	missense	probably damaging	1.00
R5555:Ext1	UTSW	15	53,088,143 (GRCm38)	missense	probably damaging	1.00
R5779:Ext1	UTSW	15	53,344,553 (GRCm38)	missense	probably damaging	0.99
R5874:Ext1	UTSW	15	53,101,752 (GRCm38)	missense	possibly damaging	0.61
R6401:Ext1	UTSW	15	53,106,097 (GRCm38)	missense	possibly damaging	0.94
R6604:Ext1	UTSW	15	53,083,159 (GRCm38)	missense	probably damaging	0.99
R6847:Ext1	UTSW	15	53,345,154 (GRCm38)	missense	probably benign
R6885:Ext1	UTSW	15	53,101,692 (GRCm38)	missense	probably damaging	1.00
R7212:Ext1	UTSW	15	53,345,162 (GRCm38)	missense	probably benign	0.00
R7315:Ext1	UTSW	15	53,073,387 (GRCm38)	missense	probably damaging	1.00
R7361:Ext1	UTSW	15	53,344,723 (GRCm38)	missense	probably damaging	1.00
R7474:Ext1	UTSW	15	53,344,489 (GRCm38)	missense	probably damaging	0.98
R7853:Ext1	UTSW	15	53,107,485 (GRCm38)	missense	probably damaging	0.96
R7860:Ext1	UTSW	15	53,089,939 (GRCm38)	missense	possibly damaging	0.84
R8013:Ext1	UTSW	15	53,075,887 (GRCm38)	missense	possibly damaging	0.78
R8014:Ext1	UTSW	15	53,075,887 (GRCm38)	missense	possibly damaging	0.78
R8725:Ext1	UTSW	15	53,344,669 (GRCm38)	missense	possibly damaging	0.91
R8888:Ext1	UTSW	15	53,092,327 (GRCm38)	missense	probably damaging	1.00
R9162:Ext1	UTSW	15	53,345,108 (GRCm38)	nonsense	probably null
R9342:Ext1	UTSW	15	53,345,128 (GRCm38)	missense	probably benign
R9587:Ext1	UTSW	15	53,092,412 (GRCm38)	missense	possibly damaging	0.53
R9663:Ext1	UTSW	15	53,345,060 (GRCm38)	missense	probably damaging	0.96
R9753:Ext1	UTSW	15	53,344,671 (GRCm38)	missense	probably damaging	1.00
X0021:Ext1	UTSW	15	53,345,273 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCAGTTGTTAGAAATCTCAGCTCC -3'
(R):5'- CCACGTTATGAATTAGCAGGGG -3'

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

Posted On

2016-08-04