Mutagenetix > Incidental Mutation

Incidental Mutation 'R7091:Glce'

550218

Institutional Source

Beutler Lab

Gene Symbol

Glce

Ensembl Gene

ENSMUSG00000032252

Gene Name

glucuronyl C5-epimerase

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7091 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62057248-62122655 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62060588 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 427 (V427A)

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: V427A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034785
Gene: ENSMUSG00000032252
AA Change: V427A

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: V427A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139949
Gene: ENSMUSG00000032252
AA Change: V427A

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (56/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	C	A	7: 127,384,362	A523S	possibly damaging	Het
Abhd18	A	C	3: 40,916,738	I111L	probably damaging	Het
Ank1	A	G	8: 23,058,663	D11G	probably benign	Het
Ank2	G	T	3: 127,023,351	Q472K	probably damaging	Het
Apbb2	A	T	5: 66,313,334	L520H	probably damaging	Het
Baat	T	C	4: 49,499,692	K205E	probably benign	Het
Brca1	T	A	11: 101,526,427	M294L	probably benign	Het
Capn1	A	G	19: 5,991,556	M641T	possibly damaging	Het
Cluap1	T	A	16: 3,940,806	D377E	probably benign	Het
Col6a2	C	T	10: 76,615,091	V39I	unknown	Het
Crybg3	T	A	16: 59,557,168	D1241V	possibly damaging	Het
Dnah10	A	G	5: 124,816,142	K3380R	probably benign	Het
Eml5	T	C	12: 98,802,474	I1400M	probably benign	Het
Fancd2	A	G	6: 113,545,101	D219G	probably damaging	Het
Fras1	A	G	5: 96,708,676	S1973G	probably benign	Het
Fsd1	G	A	17: 55,993,876	R245H	probably damaging	Het
G3bp1	T	A	11: 55,496,221	H271Q	possibly damaging	Het
Gm4778	T	C	3: 94,266,638	F314L	probably damaging	Het
Gm5141	T	C	13: 62,773,964	T464A	possibly damaging	Het
Gulp1	T	A	1: 44,766,134	F128I	probably damaging	Het
H2-Bl	T	C	17: 36,083,941	E30G	possibly damaging	Het
Hcrtr1	A	C	4: 130,130,914	L393W	probably damaging	Het
Heg1	T	C	16: 33,726,720	S650P	probably benign	Het
Hspa4l	T	A	3: 40,781,592	N569K	probably benign	Het
Ifi206	A	G	1: 173,473,875	F746L	unknown	Het
Ivl	T	C	3: 92,572,242	D172G	possibly damaging	Het
Lrp5	A	T	19: 3,630,184	D433E	probably damaging	Het
Mgam	T	C	6: 40,768,276	S1826P	possibly damaging	Het
Ms4a18	A	T	19: 11,008,728	L206M	probably damaging	Het
Msln	A	T	17: 25,750,080	C444S	probably damaging	Het
Mta1	A	G	12: 113,136,402	D644G	probably damaging	Het
Muc5ac	G	C	7: 141,809,687		probably benign	Het
Naa15	T	C	3: 51,458,756		probably null	Het
Nadk	A	G	4: 155,587,758	H302R	probably benign	Het
Neb	T	A	2: 52,256,112	N15I		Het
Nup153	A	T	13: 46,683,928	S1273T	probably benign	Het
Ofcc1	A	G	13: 40,072,767	I763T	probably damaging	Het
Olfr142	T	C	2: 90,252,463	Y175C	probably damaging	Het
Oxsr1	T	C	9: 119,284,661	I107V	probably benign	Het
Prmt5	A	G	14: 54,511,342		probably null	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Ranbp6	A	G	19: 29,812,716	S79P	probably damaging	Het
Reln	T	C	5: 21,899,029	I3315V	probably null	Het
Rnf223	T	C	4: 156,132,699	V177A	probably benign	Het
Slc20a1	C	T	2: 129,208,272	T450M	possibly damaging	Het
Smg5	C	T	3: 88,351,347	P542S	probably benign	Het
Sorl1	T	A	9: 42,002,634	Q1333L	probably benign	Het
Spag5	T	A	11: 78,313,191		probably null	Het
Tdp2	T	A	13: 24,838,224	F209I	probably damaging	Het
Tgm4	C	A	9: 123,040,460	L35M	probably damaging	Het
Tma7	A	G	9: 109,082,512		probably benign	Het
Tmprss4	A	T	9: 45,184,273	V91D	probably damaging	Het
Tnfsf4	T	A	1: 161,395,697	M39K	probably benign	Het
Ttn	T	A	2: 76,713,568	T33025S	probably benign	Het
Tut1	A	G	19: 8,965,811	H754R	probably benign	Het
Vmn2r27	T	G	6: 124,223,945	Q351P	possibly damaging	Het
Wee2	G	T	6: 40,462,002	G353V	probably benign	Het
Zfp879	T	A	11: 50,833,395	H278L	probably damaging	Het

Other mutations in Glce

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00534:Glce	APN	9	62060483	missense	probably damaging	1.00
IGL02005:Glce	APN	9	62060577	missense	probably damaging	1.00
IGL02093:Glce	APN	9	62070539	missense	probably damaging	1.00
IGL02102:Glce	APN	9	62070601	utr 5 prime	probably benign
IGL02243:Glce	APN	9	62070140	missense	probably damaging	1.00
IGL03099:Glce	APN	9	62060062	missense	probably benign	0.18
R0004:Glce	UTSW	9	62068579	missense	probably damaging	1.00
R0626:Glce	UTSW	9	62061000	missense	probably benign
R1204:Glce	UTSW	9	62070567	missense	probably damaging	0.99
R1436:Glce	UTSW	9	62070010	splice site	probably null
R1475:Glce	UTSW	9	62060928	missense	possibly damaging	0.75
R1622:Glce	UTSW	9	62070561	missense	possibly damaging	0.90
R1712:Glce	UTSW	9	62070575	missense	probably damaging	1.00
R1740:Glce	UTSW	9	62070533	missense	probably damaging	0.97
R2060:Glce	UTSW	9	62060946	missense	possibly damaging	0.83
R4424:Glce	UTSW	9	62060253	missense	probably damaging	1.00
R4893:Glce	UTSW	9	62068495	missense	probably benign
R5350:Glce	UTSW	9	62060305	nonsense	probably null
R5569:Glce	UTSW	9	62070203	missense	probably benign	0.35
R5666:Glce	UTSW	9	62060511	missense	probably damaging	1.00
R5670:Glce	UTSW	9	62060511	missense	probably damaging	1.00
R5743:Glce	UTSW	9	62070540	missense	probably damaging	1.00
R5909:Glce	UTSW	9	62060144	missense	probably damaging	1.00
R7139:Glce	UTSW	9	62070434	nonsense	probably null
R7549:Glce	UTSW	9	62060993	missense	probably damaging	1.00
R7854:Glce	UTSW	9	62070491	missense	probably benign	0.01
R7965:Glce	UTSW	9	62060946	missense	probably damaging	1.00
R8022:Glce	UTSW	9	62060591	missense	probably benign	0.08
R8264:Glce	UTSW	9	62060430	missense	probably benign
R8743:Glce	UTSW	9	62060821	missense	probably benign	0.01
R9048:Glce	UTSW	9	62060131	nonsense	probably null
X0057:Glce	UTSW	9	62060370	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCTGACGGAAACTTGTATGG -3'
(R):5'- TGGAGTACAGTTACCAGAGACC -3'

Sequencing Primer
(F):5'- ACGGAAACTTGTATGGGGCTG -3'
(R):5'- GTGGGCCTTTCTAACACAAAAGCTG -3'

Posted On

2019-05-15