Mutagenetix > Incidental Mutation

Incidental Mutation 'R7854:Glce'

607135

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

045907-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7854 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61964526-62029891 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61977773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 37 (I37N)

Ref Sequence

ENSEMBL: ENSMUSP00000034785 (fasta)

Gene Model

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

AlphaFold

Q9EPS3

Predicted Effect

probably benign
Transcript: ENSMUST00000034785
AA Change: I37N

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000034785
Gene: ENSMUSG00000032252
AA Change: I37N

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 benign
Transcript: ENSMUST00000185675
AA Change: I37N

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000139949
Gene: ENSMUSG00000032252
AA Change: I37N

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
AA Change: I37N

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Meta Mutation Damage Score

0.0990

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (51/52)

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
Adgrv1	T	A	13: 81,741,207 (GRCm39)	I86F	probably damaging	Het
Als2cl	A	G	9: 110,727,564 (GRCm39)	*953W	probably null	Het
Ap1g2	A	G	14: 55,343,390 (GRCm39)	F66L	probably damaging	Het
Aqp12	T	G	1: 92,934,176 (GRCm39)	C18G	probably damaging	Het
Atp9a	T	C	2: 168,490,523 (GRCm39)	I826V	probably benign	Het
C1ra	A	G	6: 124,494,700 (GRCm39)	Q321R	probably benign	Het
Calcoco1	T	C	15: 102,627,991 (GRCm39)	I48V	possibly damaging	Het
Cep63	A	T	9: 102,480,197 (GRCm39)	S269R	probably damaging	Het
Chchd7	T	C	4: 3,943,422 (GRCm39)	V63A	possibly damaging	Het
Dennd5b	T	C	6: 148,969,964 (GRCm39)	D163G	probably benign	Het
Dpep2	T	C	8: 106,716,160 (GRCm39)	D251G		Het
Ercc6	T	C	14: 32,288,249 (GRCm39)	L807P	probably damaging	Het
Fads6	A	T	11: 115,188,222 (GRCm39)	D27E	probably benign	Het
Gfer	C	A	17: 24,913,259 (GRCm39)	D198Y	probably damaging	Het
Gps2	T	C	11: 69,806,030 (GRCm39)	L128P	probably damaging	Het
Gramd2b	A	G	18: 56,611,926 (GRCm39)	T130A	probably damaging	Het
Hectd4	T	A	5: 121,467,631 (GRCm39)	Y2527N	probably benign	Het
Itpr1	A	G	6: 108,364,330 (GRCm39)	D820G	probably damaging	Het
Itsn2	T	C	12: 4,751,276 (GRCm39)	Y1289H	probably damaging	Het
Kcnh6	A	T	11: 105,908,172 (GRCm39)	I263F	probably damaging	Het
Kcns2	A	T	15: 34,839,917 (GRCm39)	M427L	probably benign	Het
Mptx1	A	T	1: 174,159,966 (GRCm39)	M91L	probably benign	Het
Ms4a20	T	A	19: 11,089,741 (GRCm39)	Y48F	probably benign	Het
Mtx2	A	G	2: 74,699,231 (GRCm39)	Y128C	probably damaging	Het
Myh9	A	T	15: 77,675,953 (GRCm39)	D244E	probably benign	Het
Ndufs2	T	C	1: 171,066,938 (GRCm39)	D140G	probably damaging	Het
Obscn	T	C	11: 58,981,538 (GRCm39)	T1827A	probably benign	Het
Ogn	A	T	13: 49,774,514 (GRCm39)	Y219F	possibly damaging	Het
Or1ak2	A	G	2: 36,828,036 (GRCm39)	R302G	probably benign	Het
Or51f2	C	T	7: 102,526,992 (GRCm39)	R222*	probably null	Het
Parp4	A	G	14: 56,896,805 (GRCm39)	E1943G	unknown	Het
Pex19	T	G	1: 171,954,417 (GRCm39)		probably null	Het
Prss53	T	C	7: 127,488,117 (GRCm39)	N166S	probably benign	Het
Prx	T	A	7: 27,216,066 (GRCm39)	V328E	probably damaging	Het
Pstpip2	C	T	18: 77,962,004 (GRCm39)	T258I	probably benign	Het
Rasgrp4	C	T	7: 28,850,035 (GRCm39)	P58L	unknown	Het
Ros1	T	C	10: 52,004,563 (GRCm39)	Y1019C	probably damaging	Het
Rptor	T	C	11: 119,748,779 (GRCm39)	M787T	probably benign	Het
Rsf1	GGCGGCGGCGGC	GGCGGCGGCGGCGGCGGCGGCAGCGGCAGCGGCGGCGGC	7: 97,229,131 (GRCm39)		probably benign	Het
Spef2	T	A	15: 9,596,730 (GRCm39)	R1440W	possibly damaging	Het
Spta1	T	A	1: 174,046,396 (GRCm39)		probably null	Het
Sptbn4	T	C	7: 27,061,835 (GRCm39)	I2335V	probably benign	Het
Srp68	G	C	11: 116,144,909 (GRCm39)		probably null	Het
Taar1	A	G	10: 23,796,680 (GRCm39)	D126G	probably benign	Het
Tdrd9	A	G	12: 112,013,395 (GRCm39)	T1210A	probably benign	Het
Tle5	A	G	10: 81,401,481 (GRCm39)	H183R	probably damaging	Het
Tpcn1	A	G	5: 120,687,653 (GRCm39)	F364L	probably damaging	Het
Trav2	A	T	14: 52,805,238 (GRCm39)	K20*	probably null	Het
Trpa1	T	C	1: 14,951,918 (GRCm39)	E927G	probably benign	Het
Tyk2	A	T	9: 21,026,776 (GRCm39)	D637E	probably benign	Het
Vmn1r200	T	C	13: 22,580,009 (GRCm39)	F271L	probably benign	Het
Vmn1r231	T	A	17: 21,110,894 (GRCm39)	D7V	probably damaging	Het
Wwc2	G	A	8: 48,321,512 (GRCm39)	T534I	unknown	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
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'- TTGAGCCCTAACACCTTGC -3'
(R):5'- AAAATATTCTGGCCGCACATTG -3'

Sequencing Primer
(F):5'- GCTTCCCCCGTTGCTATTGAAG -3'
(R):5'- CCTCCATAGGTATGGTCTGA -3'

Posted On

2019-12-20