Mutagenetix > Incidental Mutation

Incidental Mutation 'R7549:Glce'

584396

Institutional Source

Beutler Lab

Gene Symbol

Glce

Ensembl Gene

ENSMUSG00000032252

Gene Name

glucuronyl C5-epimerase

Synonyms

Hsepi, C130034A12Rik, heparan sulfate-glucuronic acid C5-epimerase, 1110017N23Rik

MMRRC Submission

045620-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7549 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61964526-62029891 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61968275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 292 (D292G)

Ref Sequence

ENSEMBL: ENSMUSP00000034785 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034785] [ENSMUST00000185675]

AlphaFold

Q9EPS3

Predicted Effect

probably damaging
Transcript: ENSMUST00000034785
AA Change: D292G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034785
Gene: ENSMUSG00000032252
AA Change: D292G

Domain	Start	End	E-Value	Type
transmembrane domain	12	29	N/A	INTRINSIC
Pfam:C5-epim_C	417	608	1.5e-78	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000185675
AA Change: D292G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139949
Gene: ENSMUSG00000032252
AA Change: D292G

Domain	Start	End	E-Value	Type
transmembrane domain	12	29	N/A	INTRINSIC
Pfam:C5-epim_C	417	608	6.1e-81	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutant mice die immediately after birth showing severe developmental defects including renal agenesis, lung abnormalities, and skeletal malformations. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	G	T	13: 31,742,978 (GRCm39)	R92S	unknown	Het
Adam1b	A	G	5: 121,639,981 (GRCm39)	C355R	probably damaging	Het
Adamtsl3	T	C	7: 82,223,117 (GRCm39)	L966P	probably damaging	Het
Aldh18a1	A	G	19: 40,553,291 (GRCm39)	C486R	probably damaging	Het
Aqp11	C	A	7: 97,387,284 (GRCm39)		probably benign	Het
Arhgap28	A	G	17: 68,178,961 (GRCm39)	L350P	probably damaging	Het
Art3	A	G	5: 92,551,514 (GRCm39)	Q291R	probably benign	Het
Asb15	A	G	6: 24,559,029 (GRCm39)		probably null	Het
Bmp8b	T	C	4: 122,999,448 (GRCm39)	I102T	possibly damaging	Het
Bsn	T	C	9: 107,992,014 (GRCm39)	D1246G	probably benign	Het
Cass4	G	A	2: 172,268,718 (GRCm39)	G267S	probably benign	Het
Cass4	G	T	2: 172,268,719 (GRCm39)	G267V	probably benign	Het
Ccr7	T	C	11: 99,036,727 (GRCm39)	Y65C	probably damaging	Het
Clstn2	A	C	9: 97,464,597 (GRCm39)	I186S	probably benign	Het
Cyp2r1	A	G	7: 114,153,879 (GRCm39)	I105T	possibly damaging	Het
Efr3a	T	A	15: 65,687,262 (GRCm39)		probably null	Het
Erg	A	C	16: 95,170,179 (GRCm39)		probably null	Het
Eya4	A	T	10: 22,987,557 (GRCm39)	V524E	probably damaging	Het
Farp1	C	A	14: 121,472,589 (GRCm39)	N241K	possibly damaging	Het
Fat1	A	T	8: 45,442,031 (GRCm39)	Y1111F	probably benign	Het
Fbn1	T	C	2: 125,185,947 (GRCm39)	E1607G	probably damaging	Het
Fbn2	A	T	18: 58,153,536 (GRCm39)	C2575*	probably null	Het
Fsip2	A	T	2: 82,824,337 (GRCm39)	D6690V	probably damaging	Het
Fzd4	T	C	7: 89,056,346 (GRCm39)	V131A	possibly damaging	Het
Gfral	T	A	9: 76,106,257 (GRCm39)	N110I	probably benign	Het
Gm19410	T	A	8: 36,266,500 (GRCm39)	I1051K	probably benign	Het
Gm5773	A	T	3: 93,680,323 (GRCm39)		probably benign	Het
Hcn3	A	T	3: 89,057,307 (GRCm39)	H430Q	probably null	Het
Hspa8	T	A	9: 40,714,255 (GRCm39)		probably null	Het
Ifna7	A	T	4: 88,734,664 (GRCm39)	D67V	possibly damaging	Het
Kif5c	T	A	2: 49,591,105 (GRCm39)	M319K	probably benign	Het
Klk7	G	T	7: 43,462,197 (GRCm39)		probably null	Het
Kmt2c	T	C	5: 25,619,968 (GRCm39)	K102E	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lrp1b	C	T	2: 40,765,134 (GRCm39)	M2897I		Het
Lysmd2	T	C	9: 75,544,519 (GRCm39)	S211P	probably damaging	Het
Magi1	T	G	6: 93,685,095 (GRCm39)	E761A	probably benign	Het
Mbd5	T	A	2: 49,141,355 (GRCm39)	I106N	probably damaging	Het
Mdc1	G	A	17: 36,159,749 (GRCm39)	A669T	probably null	Het
Mmp1b	A	G	9: 7,384,753 (GRCm39)	I265T	probably benign	Het
Mmp2	T	A	8: 93,563,594 (GRCm39)	L356Q	probably null	Het
Mroh8	A	G	2: 157,111,492 (GRCm39)	L154P	probably benign	Het
Muc13	T	C	16: 33,619,806 (GRCm39)	S185P	unknown	Het
Nuak1	T	A	10: 84,210,403 (GRCm39)	I562F	probably benign	Het
Obscn	C	A	11: 58,933,664 (GRCm39)		probably null	Het
Or51t4	T	C	7: 102,597,798 (GRCm39)	I42T	possibly damaging	Het
Or5w14	A	T	2: 87,542,115 (GRCm39)	M45K	probably damaging	Het
Or9k7	T	C	10: 130,046,853 (GRCm39)	M49V	probably benign	Het
Pex3	T	C	10: 13,418,414 (GRCm39)	M81V	probably benign	Het
Pex5l	T	A	3: 33,136,184 (GRCm39)	I12F	probably benign	Het
Phf3	G	T	1: 30,870,556 (GRCm39)	T164N	probably benign	Het
Phpt1	G	T	2: 25,464,844 (GRCm39)	A3E	probably benign	Het
Pja2	A	T	17: 64,616,410 (GRCm39)	L162M	probably damaging	Het
Pkdrej	T	A	15: 85,703,994 (GRCm39)	K647N	probably damaging	Het
Ppp2r1a	T	C	17: 21,182,944 (GRCm39)	S543P	possibly damaging	Het
Prdm13	C	A	4: 21,679,072 (GRCm39)	D473Y	probably damaging	Het
Prl6a1	A	T	13: 27,502,954 (GRCm39)	E183D	probably damaging	Het
Psmd3	C	T	11: 98,581,787 (GRCm39)	T304M	probably benign	Het
Ptpn5	C	T	7: 46,735,874 (GRCm39)		probably null	Het
Rassf6	T	G	5: 90,754,661 (GRCm39)	I206L	probably damaging	Het
Rif1	A	G	2: 51,968,519 (GRCm39)	H234R	possibly damaging	Het
Rint1	T	C	5: 24,020,702 (GRCm39)	V575A	probably benign	Het
Ros1	G	A	10: 52,021,930 (GRCm39)	T639I	probably damaging	Het
Ryr2	A	G	13: 11,752,871 (GRCm39)	F1817L	probably benign	Het
Ska1	T	C	18: 74,333,088 (GRCm39)	D110G	probably benign	Het
Slc25a41	G	A	17: 57,340,791 (GRCm39)	T227I	probably damaging	Het
Slc6a15	T	C	10: 103,224,998 (GRCm39)	S29P	probably benign	Het
Slc8a3	A	T	12: 81,361,544 (GRCm39)	I425K	probably benign	Het
Sox8	T	A	17: 25,786,935 (GRCm39)	Q256L	probably damaging	Het
Tars3	T	C	7: 65,297,341 (GRCm39)	V152A	probably damaging	Het
Tbx10	A	T	19: 4,046,651 (GRCm39)	T44S	probably benign	Het
Terb1	T	A	8: 105,224,716 (GRCm39)	I52F	possibly damaging	Het
Tes	AGCCGGCC	AGCC	6: 17,099,740 (GRCm39)		probably null	Het
Tgm1	A	G	14: 55,943,360 (GRCm39)	V527A	probably benign	Het
Tmed10	G	T	12: 85,391,036 (GRCm39)	Y167*	probably null	Het
Tmem165	T	G	5: 76,356,415 (GRCm39)	S318R	possibly damaging	Het
Trim9	G	T	12: 70,393,715 (GRCm39)	S76R	probably damaging	Het
Tti1	A	G	2: 157,849,088 (GRCm39)	V717A	probably damaging	Het
Vmn2r86	T	A	10: 130,282,697 (GRCm39)	I640F	probably damaging	Het
Vwf	A	G	6: 125,603,230 (GRCm39)	N860S		Het
Xirp2	A	G	2: 67,339,241 (GRCm39)	K494R	possibly damaging	Het
Zkscan4	G	A	13: 21,668,419 (GRCm39)	S319N	probably damaging	Het

Other mutations in Glce

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00534:Glce	APN	9	61,967,765 (GRCm39)	missense	probably damaging	1.00
IGL02005:Glce	APN	9	61,967,859 (GRCm39)	missense	probably damaging	1.00
IGL02093:Glce	APN	9	61,977,821 (GRCm39)	missense	probably damaging	1.00
IGL02102:Glce	APN	9	61,977,883 (GRCm39)	utr 5 prime	probably benign
IGL02243:Glce	APN	9	61,977,422 (GRCm39)	missense	probably damaging	1.00
IGL03099:Glce	APN	9	61,967,344 (GRCm39)	missense	probably benign	0.18
R0004:Glce	UTSW	9	61,975,861 (GRCm39)	missense	probably damaging	1.00
R0626:Glce	UTSW	9	61,968,282 (GRCm39)	missense	probably benign
R1204:Glce	UTSW	9	61,977,849 (GRCm39)	missense	probably damaging	0.99
R1436:Glce	UTSW	9	61,977,292 (GRCm39)	splice site	probably null
R1475:Glce	UTSW	9	61,968,210 (GRCm39)	missense	possibly damaging	0.75
R1622:Glce	UTSW	9	61,977,843 (GRCm39)	missense	possibly damaging	0.90
R1712:Glce	UTSW	9	61,977,857 (GRCm39)	missense	probably damaging	1.00
R1740:Glce	UTSW	9	61,977,815 (GRCm39)	missense	probably damaging	0.97
R2060:Glce	UTSW	9	61,968,228 (GRCm39)	missense	possibly damaging	0.83
R4424:Glce	UTSW	9	61,967,535 (GRCm39)	missense	probably damaging	1.00
R4893:Glce	UTSW	9	61,975,777 (GRCm39)	missense	probably benign
R5350:Glce	UTSW	9	61,967,587 (GRCm39)	nonsense	probably null
R5569:Glce	UTSW	9	61,977,485 (GRCm39)	missense	probably benign	0.35
R5666:Glce	UTSW	9	61,967,793 (GRCm39)	missense	probably damaging	1.00
R5670:Glce	UTSW	9	61,967,793 (GRCm39)	missense	probably damaging	1.00
R5743:Glce	UTSW	9	61,977,822 (GRCm39)	missense	probably damaging	1.00
R5909:Glce	UTSW	9	61,967,426 (GRCm39)	missense	probably damaging	1.00
R7091:Glce	UTSW	9	61,967,870 (GRCm39)	missense	probably damaging	1.00
R7139:Glce	UTSW	9	61,977,716 (GRCm39)	nonsense	probably null
R7854:Glce	UTSW	9	61,977,773 (GRCm39)	missense	probably benign	0.01
R7965:Glce	UTSW	9	61,968,228 (GRCm39)	missense	probably damaging	1.00
R8022:Glce	UTSW	9	61,967,873 (GRCm39)	missense	probably benign	0.08
R8264:Glce	UTSW	9	61,967,712 (GRCm39)	missense	probably benign
R8743:Glce	UTSW	9	61,968,103 (GRCm39)	missense	probably benign	0.01
R9048:Glce	UTSW	9	61,967,413 (GRCm39)	nonsense	probably null
X0057:Glce	UTSW	9	61,967,652 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGTGTTAGAAAGGCCCACTC -3'
(R):5'- AAGGTAAGCGGAAGTCATCC -3'

Sequencing Primer
(F):5'- GTCTCTGGTAACTGTACTCCATGAAG -3'
(R):5'- AGCGGAAGTCATCCTTAATTTTGTG -3'

Posted On

2019-10-17