Mutagenetix > Incidental Mutation

Incidental Mutation 'R5909:Glce'

460856

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

044106-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5909 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61964526-62029891 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 61967426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 575 (A575D)

Ref Sequence

ENSEMBL: ENSMUSP00000139949 (fasta)

Gene Model

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

AlphaFold

Q9EPS3

Predicted Effect

probably damaging
Transcript: ENSMUST00000034785
AA Change: A575D

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

SMART Domains

Protein: ENSMUSP00000034785
Gene: ENSMUSG00000032252
AA Change: A575D

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: A575D

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

SMART Domains

Protein: ENSMUSP00000139949
Gene: ENSMUSG00000032252
AA Change: A575D

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

noncoding transcript
Transcript: ENSMUST00000186514

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.6%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	T	C	9: 30,873,224 (GRCm39)	S810P	probably benign	Het
Adcy7	A	T	8: 89,052,124 (GRCm39)	I931F	probably damaging	Het
Alcam	G	T	16: 52,111,356 (GRCm39)	Q248K	probably benign	Het
Astn1	A	C	1: 158,429,507 (GRCm39)	R750S	probably damaging	Het
Atp1a2	A	T	1: 172,114,797 (GRCm39)	N329K	probably damaging	Het
Bcl6	A	G	16: 23,791,556 (GRCm39)	V266A	probably benign	Het
Bdp1	A	G	13: 100,228,794 (GRCm39)	V278A	probably benign	Het
Ccdc162	T	C	10: 41,437,111 (GRCm39)	E493G	probably damaging	Het
Cpvl	T	C	6: 53,909,413 (GRCm39)	Y241C	probably damaging	Het
Ddx55	T	C	5: 124,704,913 (GRCm39)	M390T	probably benign	Het
Ero1b	A	G	13: 12,594,139 (GRCm39)	E102G	probably benign	Het
Etnk1	A	G	6: 143,143,164 (GRCm39)	D273G	probably benign	Het
Exoc3	A	G	13: 74,347,643 (GRCm39)	V109A	probably damaging	Het
F830016B08Rik	T	A	18: 60,433,091 (GRCm39)	I58N	probably damaging	Het
Fancd2	T	A	6: 113,538,672 (GRCm39)	V589E	probably benign	Het
Fbll1	G	A	11: 35,689,159 (GRCm39)	R35C	unknown	Het
Fnbp1	A	G	2: 30,938,211 (GRCm39)		probably null	Het
Ift20	T	A	11: 78,430,867 (GRCm39)	M70K	possibly damaging	Het
Impg2	T	C	16: 56,078,499 (GRCm39)	V487A	probably damaging	Het
Isx	A	G	8: 75,619,426 (GRCm39)	D206G	probably benign	Het
Jak3	A	G	8: 72,136,875 (GRCm39)	I684V	possibly damaging	Het
Kdm5d	G	A	Y: 941,306 (GRCm39)	S1169N	probably benign	Het
Krt35	A	T	11: 99,986,639 (GRCm39)	L125Q	probably damaging	Het
Lama4	G	A	10: 38,948,855 (GRCm39)	A873T	probably benign	Het
Lrch4	T	C	5: 137,632,127 (GRCm39)	S74P	possibly damaging	Het
Maneal	A	T	4: 124,750,966 (GRCm39)	Y263*	probably null	Het
Mcat	C	T	15: 83,432,116 (GRCm39)	A251T	probably benign	Het
Mup3	T	G	4: 62,004,244 (GRCm39)	T90P	probably benign	Het
Mybpc2	G	A	7: 44,156,515 (GRCm39)	A812V	probably damaging	Het
Naa15	T	C	3: 51,367,485 (GRCm39)	F503L	probably damaging	Het
Nudt8	T	C	19: 4,050,727 (GRCm39)	L25S	possibly damaging	Het
Oas1e	A	T	5: 120,926,972 (GRCm39)	V245D	probably damaging	Het
Ofcc1	A	G	13: 40,417,054 (GRCm39)	M109T	possibly damaging	Het
Or4c58	A	G	2: 89,674,735 (GRCm39)	V194A	possibly damaging	Het
Or4p18	A	T	2: 88,232,535 (GRCm39)	F248I	probably damaging	Het
Phkb	G	T	8: 86,748,076 (GRCm39)		probably null	Het
Pidd1	A	C	7: 141,021,183 (GRCm39)	L365R	probably damaging	Het
Pira12	G	A	7: 3,900,621 (GRCm39)	T43I	probably damaging	Het
Pkd1l2	G	A	8: 117,750,795 (GRCm39)	R1739C	probably benign	Het
Pkdrej	A	T	15: 85,702,497 (GRCm39)	D1146E	possibly damaging	Het
Pkhd1l1	G	T	15: 44,390,159 (GRCm39)	W1425L	probably damaging	Het
Plxna4	A	G	6: 32,494,181 (GRCm39)	L145P	probably damaging	Het
Plxnd1	G	T	6: 115,945,649 (GRCm39)	D941E	probably benign	Het
Prdm13	G	T	4: 21,683,894 (GRCm39)	Q126K	unknown	Het
Rbm25	T	A	12: 83,728,362 (GRCm39)	V837E	probably damaging	Het
Rcc2	T	A	4: 140,444,379 (GRCm39)	Y357N	probably damaging	Het
Siglec1	A	T	2: 130,919,884 (GRCm39)	N882K	probably damaging	Het
Sox13	A	G	1: 133,311,627 (GRCm39)	I535T	probably benign	Het
Srrm2	T	C	17: 24,040,291 (GRCm39)	S2408P	probably benign	Het
Stat3	G	A	11: 100,794,556 (GRCm39)	T251I	probably benign	Het
Sulf1	A	T	1: 12,929,039 (GRCm39)	D102V	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tmem145	G	T	7: 25,007,618 (GRCm39)	L208F	possibly damaging	Het
Trim17	A	T	11: 58,859,506 (GRCm39)	E240V	probably damaging	Het
Trim43b	A	T	9: 88,967,451 (GRCm39)	I395K	possibly damaging	Het
Trmt61a	C	A	12: 111,647,292 (GRCm39)	H130N	probably damaging	Het
Unc5b	A	C	10: 60,608,138 (GRCm39)	L654R	probably damaging	Het
Vmn1r66	A	T	7: 10,008,269 (GRCm39)	S255T	probably benign	Het
Ylpm1	C	T	12: 85,087,660 (GRCm39)	P1148L	probably damaging	Het
Zbtb10	T	C	3: 9,345,109 (GRCm39)	F677S	probably benign	Het
Zfp493	T	A	13: 67,934,717 (GRCm39)	C223*	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
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'- CCGTGGAATGCAACTGTTTC -3'
(R):5'- TGGGCTGTATGACCTAAAAGAAAC -3'

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

Posted On

2017-02-28