Mutagenetix > Incidental Mutation

Incidental Mutation 'R4893:Glce'

377409

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

042498-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4893 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62057248-62122655 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62068495 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 241 (D241G)

Ref Sequence

ENSEMBL: ENSMUSP00000139949 (fasta)

Gene Model

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

AlphaFold

Q9EPS3

Predicted Effect

probably benign
Transcript: ENSMUST00000034785
AA Change: D241G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034785
Gene: ENSMUSG00000032252
AA Change: D241G

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: D241G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139949
Gene: ENSMUSG00000032252
AA Change: D241G

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	A	G	8: 116,971,165	I401T	probably damaging	Het
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Acss1	C	A	2: 150,629,866	V323F	probably damaging	Het
Adgrf3	T	G	5: 30,200,478	D286A	probably benign	Het
Akap5	T	C	12: 76,329,969	V718A	probably damaging	Het
Ankk1	A	G	9: 49,415,683	V732A	probably benign	Het
Antxr2	T	A	5: 98,004,072	D180V	probably damaging	Het
Arfgef2	T	G	2: 166,866,956	F1063V	probably benign	Het
Ascl5	A	T	1: 136,051,179	I126F	probably damaging	Het
Aspm	T	A	1: 139,489,839		probably null	Het
Atf6b	T	C	17: 34,648,612	S100P	probably damaging	Het
Baz2a	C	A	10: 128,123,415	H1266Q	possibly damaging	Het
Cdh4	A	T	2: 179,847,419		probably benign	Het
Celsr3	C	G	9: 108,849,421	S3283C	probably damaging	Het
Clca4b	C	T	3: 144,925,173	V309M	possibly damaging	Het
Cnbd2	T	C	2: 156,365,184	Y436H	probably damaging	Het
Csnk1a1	T	C	18: 61,585,301		probably benign	Het
Cstf1	C	T	2: 172,380,524	R401C	probably damaging	Het
Cul3	A	G	1: 80,288,850	I117T	probably damaging	Het
Dlgap3	A	G	4: 127,194,983	D124G	probably damaging	Het
Dnah12	A	G	14: 26,710,170	D381G	possibly damaging	Het
Dtna	T	C	18: 23,569,667	L85P	probably damaging	Het
Ephb2	A	G	4: 136,659,753	I722T	probably damaging	Het
Epn3	A	T	11: 94,491,996	F421I	probably damaging	Het
Fam160b1	T	A	19: 57,381,756	H477Q	probably benign	Het
Fam83f	T	A	15: 80,691,955	L269H	probably damaging	Het
Gata4	G	A	14: 63,201,596	A139V	probably benign	Het
Gm17728	A	T	17: 9,422,231	I58F	probably benign	Het
Inhba	A	T	13: 16,026,549	D232V	possibly damaging	Het
Itgb2l	C	A	16: 96,427,821	R394L	probably benign	Het
Klhl14	T	C	18: 21,557,935	Y486C	probably damaging	Het
Krt1	A	G	15: 101,850,120	I203T	probably damaging	Het
Lims2	T	C	18: 31,941,811		probably null	Het
Lrrc31	T	G	3: 30,679,297	I423L	probably benign	Het
Map7d1	C	T	4: 126,233,222	D732N	unknown	Het
Mau2	A	T	8: 70,030,640		probably null	Het
Mbtps1	G	A	8: 119,518,193	R840W	probably damaging	Het
Morn3	T	C	5: 123,037,682	I214M	probably damaging	Het
Mrpl44	A	G	1: 79,777,865	K63E	probably damaging	Het
Muc20	T	C	16: 32,794,672	T112A	possibly damaging	Het
Myo6	T	A	9: 80,228,877	L94Q	probably damaging	Het
Nos1	C	A	5: 117,952,877	T1423K	possibly damaging	Het
Olfr166	A	G	16: 19,486,903	T22A	probably benign	Het
Olfr31	T	C	14: 14,328,852	V247A	probably damaging	Het
Pdzd2	T	C	15: 12,385,343	T1114A	probably benign	Het
Pgm1	T	C	5: 64,105,940	V310A	probably benign	Het
Pi4ka	T	C	16: 17,377,036	E166G	probably benign	Het
Pign	A	T	1: 105,646,711	D303E	probably damaging	Het
Pik3c3	G	T	18: 30,282,000	V149L	probably benign	Het
Pkd1l3	A	T	8: 109,638,394	Y1126F	probably benign	Het
Pkd2l1	T	A	19: 44,153,771	Q516L	probably benign	Het
Pnliprp2	C	A	19: 58,771,421	Q355K	probably benign	Het
Pnpla7	T	A	2: 25,053,676	Y1314*	probably null	Het
Ppp1r1b	A	G	11: 98,355,344	T51A	possibly damaging	Het
Prkcd	A	T	14: 30,599,425	S544T	probably damaging	Het
Pusl1	G	A	4: 155,889,541	T252I	probably benign	Het
Rnf44	A	G	13: 54,681,932		probably null	Het
Slc24a2	A	T	4: 87,226,908	V303E	probably damaging	Het
Slc28a2	T	A	2: 122,455,216		probably null	Het
Sox8	T	C	17: 25,568,989	D162G	probably damaging	Het
Spag1	T	C	15: 36,197,846		probably null	Het
Taar6	T	C	10: 23,985,400	I83V	probably benign	Het
Tes	T	A	6: 17,104,596	C359S	probably damaging	Het
Vmn2r4	A	T	3: 64,406,255	L435H	probably damaging	Het
Zfhx3	G	T	8: 108,957,007	D3693Y	unknown	Het
Zfp931	G	A	2: 178,068,203	P130L	probably damaging	Het
Zfr	T	G	15: 12,136,542	V95G	unknown	Het
Zw10	A	G	9: 49,074,025	E587G	possibly 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
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
R7091:Glce	UTSW	9	62060588	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'- AGGTACCCCAGTTTGTTAGGTC -3'
(R):5'- CCTCAGAATGACTCCTCTGTG -3'

Sequencing Primer
(F):5'- GGTACCCCAGTTTGTTAGGTCATAAC -3'
(R):5'- CAGAATGACTCCTCTGTGTCTAGG -3'

Posted On

2016-03-17