Mutagenetix > Incidental Mutation

Incidental Mutation 'R1436:Glce'

160646

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

039491-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1436 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61964526-62029891 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 61977292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139949 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034785] [ENSMUST00000185675] [ENSMUST00000185873]

AlphaFold

Q9EPS3

Predicted Effect

probably null
Transcript: ENSMUST00000034785

SMART Domains

Protein: ENSMUSP00000034785
Gene: ENSMUSG00000032252

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 null
Transcript: ENSMUST00000185675

SMART Domains

Protein: ENSMUSP00000139949
Gene: ENSMUSG00000032252

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

Predicted Effect

probably benign
Transcript: ENSMUST00000185873

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186514

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.6%
20x: 86.8%

Validation Efficiency

94% (65/69)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,621,172 (GRCm39)	F292S	probably benign	Het
Aadacl2fm3	A	T	3: 59,772,760 (GRCm39)	D88V	probably damaging	Het
Abca13	T	C	11: 9,242,646 (GRCm39)	V1503A	probably damaging	Het
AI661453	C	T	17: 47,777,627 (GRCm39)		probably benign	Het
Ano2	T	C	6: 125,844,134 (GRCm39)		probably null	Het
Areg	G	T	5: 91,287,664 (GRCm39)		probably benign	Het
Atg16l2	A	G	7: 100,940,757 (GRCm39)	V453A	probably damaging	Het
BC034090	A	G	1: 155,101,662 (GRCm39)	S563P	probably benign	Het
Bhmt-ps1	A	G	4: 26,369,591 (GRCm39)		noncoding transcript	Het
Birc6	C	A	17: 74,959,700 (GRCm39)	P3855Q	probably damaging	Het
Cd151	A	T	7: 141,049,197 (GRCm39)	K8M	probably damaging	Het
Cd163	T	C	6: 124,304,890 (GRCm39)	V1089A	possibly damaging	Het
Chd3	A	T	11: 69,248,400 (GRCm39)		probably null	Het
Cnot6l	T	A	5: 96,281,971 (GRCm39)	E9V	probably damaging	Het
Col22a1	A	G	15: 71,794,806 (GRCm39)		probably benign	Het
Cyp2c68	A	G	19: 39,729,484 (GRCm39)	M1T	probably null	Het
Dbp	T	C	7: 45,357,879 (GRCm39)	V149A	probably damaging	Het
Dnah10	T	C	5: 124,839,285 (GRCm39)	V1241A	probably benign	Het
Galnt10	T	C	11: 57,662,295 (GRCm39)	S314P	probably damaging	Het
Gm5093	C	G	17: 46,750,680 (GRCm39)	D116H	probably damaging	Het
Golim4	A	G	3: 75,785,951 (GRCm39)		probably null	Het
Helz2	A	T	2: 180,877,317 (GRCm39)	I1107N	probably damaging	Het
Hoxc9	T	C	15: 102,890,304 (GRCm39)	S74P	probably benign	Het
Ikbkb	T	A	8: 23,163,419 (GRCm39)	N297I	probably benign	Het
Il20ra	T	A	10: 19,625,000 (GRCm39)	I93N	probably damaging	Het
Itch	C	A	2: 155,034,065 (GRCm39)	N412K	probably damaging	Het
Kcna5	T	A	6: 126,511,724 (GRCm39)	T135S	probably damaging	Het
Lncpint	G	A	6: 31,157,974 (GRCm39)		noncoding transcript	Het
Lrrc39	A	T	3: 116,373,293 (GRCm39)		probably null	Het
Mad2l1	T	A	6: 66,516,797 (GRCm39)	V163E	possibly damaging	Het
Moxd1	C	T	10: 24,120,256 (GRCm39)	T128M	probably damaging	Het
Mpeg1	C	T	19: 12,439,823 (GRCm39)	S427F	probably damaging	Het
Nckap5	T	C	1: 125,953,798 (GRCm39)	Y854C	possibly damaging	Het
Ncln	C	T	10: 81,325,727 (GRCm39)	E373K	probably damaging	Het
Neurod4	T	C	10: 130,106,540 (GRCm39)	T245A	possibly damaging	Het
Nsun5	T	C	5: 135,399,067 (GRCm39)	L39P	probably damaging	Het
Or2ad1	G	T	13: 21,327,162 (GRCm39)	Q22K	probably benign	Het
Or4c105	A	T	2: 88,648,336 (GRCm39)	T274S	possibly damaging	Het
Or4f7	A	G	2: 111,644,906 (GRCm39)	L55S	probably damaging	Het
Pde8b	T	C	13: 95,162,678 (GRCm39)	T815A	probably benign	Het
Pofut2	C	T	10: 77,104,398 (GRCm39)	R392W	probably damaging	Het
Ppip5k2	G	A	1: 97,639,507 (GRCm39)	T1186I	probably benign	Het
Rhot2	A	C	17: 26,060,374 (GRCm39)	S277R	probably benign	Het
Satb1	T	G	17: 52,111,391 (GRCm39)		probably null	Het
Sec31b	T	C	19: 44,524,634 (GRCm39)	I88V	probably damaging	Het
Selenon	T	A	4: 134,267,997 (GRCm39)	E483V	probably damaging	Het
Serpinc1	A	G	1: 160,820,981 (GRCm39)	T22A	possibly damaging	Het
Sf3a2	G	A	10: 80,640,040 (GRCm39)		probably benign	Het
Sf3b1	A	G	1: 55,040,580 (GRCm39)	Y561H	possibly damaging	Het
Smarcc1	T	A	9: 109,947,708 (GRCm39)		probably benign	Het
Stard3nl	C	T	13: 19,556,819 (GRCm39)	R107Q	probably damaging	Het
Syce1	C	T	7: 140,357,593 (GRCm39)	R324H	possibly damaging	Het
Tnk1	G	T	11: 69,743,119 (GRCm39)		probably benign	Het
Trim46	A	G	3: 89,150,968 (GRCm39)	F198L	probably damaging	Het
Trip4	A	T	9: 65,788,233 (GRCm39)	W71R	probably damaging	Het
Ubox5	A	C	2: 130,439,213 (GRCm39)		probably benign	Het
Ust	G	A	10: 8,183,202 (GRCm39)	T167M	probably damaging	Het
Zbtb2	T	C	10: 4,318,697 (GRCm39)	Q443R	probably benign	Het
Zfp407	A	G	18: 84,361,196 (GRCm39)		probably benign	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
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
R7549:Glce	UTSW	9	61,968,275 (GRCm39)	missense	probably damaging	1.00
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'- TCACACCAACTGGAAAGCTTCAATAGG -3'
(R):5'- TGACTGTCTCATAAACGATGAGCACAC -3'

Sequencing Primer
(F):5'- CAACTGGAAAGCTTCAATAGGTTTAC -3'
(R):5'- GGGAATGAAGTTTTCCTTCCATTCAC -3'

Posted On

2014-03-14