Mutagenetix > Incidental Mutation

Incidental Mutation 'R9048:Glce'

688188

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

068874-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9048 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61964526-62029891 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 61967413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 579 (Y579*)

Ref Sequence

ENSEMBL: ENSMUSP00000034785 (fasta)

Gene Model

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

AlphaFold

Q9EPS3

Predicted Effect

probably null
Transcript: ENSMUST00000034785
AA Change: Y579*

SMART Domains

Protein: ENSMUSP00000034785
Gene: ENSMUSG00000032252
AA Change: Y579*

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
AA Change: Y579*

SMART Domains

Protein: ENSMUSP00000139949
Gene: ENSMUSG00000032252
AA Change: Y579*

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: 98.5%

Validation Efficiency

100% (53/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahcyl	A	T	16: 45,974,558 (GRCm39)	V273D	probably damaging	Het
Als2	C	T	1: 59,225,670 (GRCm39)	V947M	possibly damaging	Het
Bltp1	T	C	3: 37,065,926 (GRCm39)	S67P		Het
Bmp6	C	T	13: 38,682,778 (GRCm39)	T453I	probably damaging	Het
Ccdc141	T	C	2: 76,853,872 (GRCm39)	K1092R	probably damaging	Het
Ces1f	T	C	8: 93,989,695 (GRCm39)	D407G	probably benign	Het
Cfap46	G	T	7: 139,207,259 (GRCm39)	H1887N	unknown	Het
Cldn10	G	A	14: 119,025,656 (GRCm39)	V30M	probably damaging	Het
Col4a1	T	A	8: 11,281,944 (GRCm39)		probably benign	Het
Cyria	G	A	12: 12,412,286 (GRCm39)	A183T	probably damaging	Het
Dmac2l	C	T	12: 69,787,752 (GRCm39)	R63C	probably damaging	Het
Enpp7	A	G	11: 118,881,455 (GRCm39)	H200R	probably damaging	Het
Entrep3	T	C	3: 89,093,048 (GRCm39)	Y269H	probably damaging	Het
Epb41l3	C	T	17: 69,517,218 (GRCm39)	A82V	probably benign	Het
Exph5	A	G	9: 53,284,935 (GRCm39)	H672R	possibly damaging	Het
Gm9507	G	A	10: 77,647,245 (GRCm39)	P145S	unknown	Het
Igf2	A	T	7: 142,207,759 (GRCm39)	F113I	probably benign	Het
Il1a	T	C	2: 129,148,441 (GRCm39)	S90G	probably benign	Het
Kalrn	A	G	16: 33,854,854 (GRCm39)	I2002T	possibly damaging	Het
Kng2	G	A	16: 22,806,522 (GRCm39)	T559I	probably benign	Het
Leng8	A	G	7: 4,146,931 (GRCm39)		probably benign	Het
Lpcat2	G	T	8: 93,635,878 (GRCm39)	A427S	probably benign	Het
Mapk14	A	G	17: 28,947,358 (GRCm39)	T175A	probably benign	Het
Mei1	C	A	15: 81,969,036 (GRCm39)	S329*	probably null	Het
Mfsd2a	A	G	4: 122,854,768 (GRCm39)	I20T	probably benign	Het
Mtcl1	T	C	17: 66,678,331 (GRCm39)	N665S	probably benign	Het
Mup5	T	A	4: 61,750,612 (GRCm39)	Q177L	probably benign	Het
Nkx6-2	A	G	7: 139,161,876 (GRCm39)	F167S	probably damaging	Het
Or10j5	T	C	1: 172,784,929 (GRCm39)	V189A	probably benign	Het
Or13c7b	T	C	4: 43,820,584 (GRCm39)	Y259C	probably damaging	Het
Or2t26	G	A	11: 49,039,830 (GRCm39)	V249I	probably damaging	Het
Or2y1c	T	A	11: 49,361,880 (GRCm39)	W301R	probably benign	Het
Or55b3	A	T	7: 102,126,684 (GRCm39)	I131N	probably damaging	Het
Or5h18	G	A	16: 58,847,598 (GRCm39)	T224I	probably benign	Het
Pgap6	T	C	17: 26,340,515 (GRCm39)	V633A	probably damaging	Het
Phyh	A	T	2: 4,932,249 (GRCm39)	M112L	probably benign	Het
Pip5k1c	C	A	10: 81,152,710 (GRCm39)		probably benign	Het
Pkn1	G	A	8: 84,424,663 (GRCm39)	R11C	possibly damaging	Het
Podn	G	C	4: 107,878,596 (GRCm39)	R424G	probably damaging	Het
Ptdss2	A	G	7: 140,732,797 (GRCm39)	D222G	probably damaging	Het
Ryk	A	T	9: 102,774,468 (GRCm39)	M401L	probably benign	Het
Sec61g	A	G	11: 16,458,129 (GRCm39)	V22A	probably benign	Het
Septin8	A	G	11: 53,427,530 (GRCm39)	N250D	probably damaging	Het
Siglecg	T	C	7: 43,058,003 (GRCm39)	L7P	probably benign	Het
Sin3a	A	G	9: 57,032,620 (GRCm39)	D1188G	probably damaging	Het
Sipa1l2	G	A	8: 126,174,465 (GRCm39)	T1271M	possibly damaging	Het
Stard9	T	A	2: 120,508,415 (GRCm39)	L241H	probably damaging	Het
Stx8	A	G	11: 67,902,211 (GRCm39)	T132A	probably damaging	Het
Stxbp2	A	G	8: 3,687,218 (GRCm39)	I403V		Het
Stxbp3	A	T	3: 108,723,704 (GRCm39)	M177K	probably benign	Het
Supt16	T	A	14: 52,418,513 (GRCm39)	Q248L	probably damaging	Het
Vmn2r91	A	T	17: 18,356,122 (GRCm39)	L596F	probably benign	Het
Zkscan3	T	C	13: 21,580,686 (GRCm39)	M1V	probably null	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
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
X0057:Glce	UTSW	9	61,967,652 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCGTGGAATGCAACTGTTTC -3'
(R):5'- GCTGTATGACCTAAAAGAAACAGC -3'

Sequencing Primer
(F):5'- CACAGCATTTAAAGTGTGCGAC -3'
(R):5'- TATGACCTAAAAGAAACAGCAGGGG -3'

Posted On

2021-11-19