Mutagenetix > Incidental Mutation

Incidental Mutation 'R5994:Dglucy'

481020

Institutional Source

Beutler Lab

Gene Symbol

Dglucy

Ensembl Gene

ENSMUSG00000021185

Gene Name

D-glutamate cyclase

Synonyms

9030617O03Rik

MMRRC Submission

044173-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R5994 (G1)

Quality Score

185.009

Status

Not validated

Chromosome

Chromosomal Location

100779057-100896981 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100842700 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 219 (R219Q)

Ref Sequence

ENSEMBL: ENSMUSP00000129876 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069782] [ENSMUST00000110069] [ENSMUST00000110070] [ENSMUST00000110073] [ENSMUST00000154603] [ENSMUST00000167322]

AlphaFold

Q8BH86

Predicted Effect

probably benign
Transcript: ENSMUST00000069782
AA Change: R219Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000067830
Gene: ENSMUSG00000021185
AA Change: R219Q

Domain	Start	End	E-Value	Type
Pfam:DUF1445	115	257	1.1e-51	PFAM
Pfam:DUF4392	298	612	4.2e-100	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110069
AA Change: R219Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105696
Gene: ENSMUSG00000021185
AA Change: R219Q

Domain	Start	End	E-Value	Type
Pfam:DUF1445	115	257	1.1e-51	PFAM
Pfam:DUF4392	298	612	4.2e-100	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110070
AA Change: R219Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105697
Gene: ENSMUSG00000021185
AA Change: R219Q

Domain	Start	End	E-Value	Type
Pfam:DUF1445	115	257	2.8e-51	PFAM
Pfam:DUF4392	298	563	2.5e-87	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110073
AA Change: R249Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105700
Gene: ENSMUSG00000021185
AA Change: R249Q

Domain	Start	End	E-Value	Type
Pfam:DUF1445	145	287	7.2e-54	PFAM
Pfam:DUF4392	329	640	2.3e-124	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154603

Predicted Effect

probably benign
Transcript: ENSMUST00000167322
AA Change: R219Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000129876
Gene: ENSMUSG00000021185
AA Change: R219Q

Domain	Start	End	E-Value	Type
Pfam:DUF1445	115	257	1.1e-51	PFAM
Pfam:DUF4392	298	612	4.2e-100	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit elevated D-glutamate levels in the heart. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,670,903	H1118L	probably benign	Het
Abca8b	A	G	11: 109,949,766		probably null	Het
Abcb5	A	T	12: 118,965,260		probably null	Het
Adcy6	A	T	15: 98,593,664	I1016N	probably damaging	Het
Afg3l2	A	T	18: 67,429,070	C312S	probably damaging	Het
Ano8	C	T	8: 71,484,834	V89M	probably damaging	Het
Arhgap21	C	T	2: 20,881,376	G330D	possibly damaging	Het
Caskin1	T	C	17: 24,496,961	L195P	probably damaging	Het
Cfap54	A	G	10: 93,039,081	I514T	probably damaging	Het
Ctdsp2	G	A	10: 126,995,820		probably benign	Het
Cyp4x1	T	C	4: 115,121,945	I152V	probably benign	Het
Disp3	G	T	4: 148,254,284	A810E	possibly damaging	Het
Dtx4	T	C	19: 12,501,153	Y22C	probably damaging	Het
Edaradd	A	T	13: 12,478,496	I105N	probably damaging	Het
Eepd1	C	T	9: 25,603,453	P519S	probably damaging	Het
Fscn3	A	T	6: 28,430,295	S155C	probably benign	Het
Gm10134	A	T	2: 28,506,246	E51V	probably damaging	Het
Gm7247	C	T	14: 51,364,348	S26F	probably benign	Het
Golga7	T	C	8: 23,250,265	E83G	probably benign	Het
Gpr12	T	C	5: 146,583,431	H227R	probably damaging	Het
Hoxa2	T	G	6: 52,164,392	S85R	possibly damaging	Het
Hrnr	T	C	3: 93,332,300	S3282P	unknown	Het
Ift74	C	A	4: 94,691,724	T543K	possibly damaging	Het
Klf10	C	A	15: 38,296,041	R420L	probably damaging	Het
Krt77	T	A	15: 101,862,855	I338F	probably damaging	Het
Limch1	A	T	5: 66,974,622	S152C	probably damaging	Het
Mgat4e	T	A	1: 134,541,496	H270L	probably benign	Het
Myrf	A	T	19: 10,219,117	L504Q	probably null	Het
Nckipsd	A	G	9: 108,813,977	Q366R	probably benign	Het
Npy5r	A	T	8: 66,682,099	V14D	probably benign	Het
Nrap	T	A	19: 56,351,599	R830*	probably null	Het
Ogfrl1	A	T	1: 23,378,989	Y103N	probably damaging	Het
Olfr978	A	T	9: 39,994,223	R138*	probably null	Het
P2rx4	T	A	5: 122,725,079	L232H	probably damaging	Het
Pabpc2	A	T	18: 39,773,894	T71S	probably benign	Het
Paip2b	C	A	6: 83,808,885	S121I	probably damaging	Het
Pofut1	C	T	2: 153,261,229	T261I	possibly damaging	Het
Ppp6c	G	T	2: 39,210,992	T46K	possibly damaging	Het
Prkd2	C	A	7: 16,850,336	H371Q	probably benign	Het
Prrc2c	A	T	1: 162,674,156		probably null	Het
Psd3	C	T	8: 67,719,968	A894T	probably damaging	Het
Pygm	A	T	19: 6,398,043		probably null	Het
Pzp	A	T	6: 128,491,597	M989K	probably damaging	Het
Ralgapa2	A	T	2: 146,361,453	S1159T	probably benign	Het
Rapgefl1	T	C	11: 98,850,160	F575L	probably benign	Het
Rassf6	A	G	5: 90,617,768	L28S	probably damaging	Het
Rbp3	G	T	14: 33,954,900	K268N	probably damaging	Het
Rela	C	T	19: 5,647,064	T433M	possibly damaging	Het
Rnf103	T	A	6: 71,496,910	S102R	probably damaging	Het
Scarf2	A	G	16: 17,806,379	N516S	probably damaging	Het
Sdcbp2	T	C	2: 151,587,483	I241T	probably damaging	Het
Sept7	T	C	9: 25,288,198	I131T	possibly damaging	Het
Sh3pxd2b	T	C	11: 32,407,570	F191L	probably damaging	Het
Siglec15	C	A	18: 78,047,375	C236F	probably damaging	Het
Slc11a2	T	C	15: 100,397,681	T520A	probably benign	Het
Slc26a11	C	A	11: 119,379,912	F553L	probably benign	Het
Smchd1	G	A	17: 71,365,409	P1596S	possibly damaging	Het
Taar7b	A	G	10: 24,000,348	H137R	probably damaging	Het
Thap12	T	A	7: 98,716,030	C468*	probably null	Het
Timp4	C	T	6: 115,247,354	G118D	probably damaging	Het
Tnnt3	A	G	7: 142,511,266	K48E	probably damaging	Het
Trmt10a	T	A	3: 138,156,714	I255N	probably damaging	Het
Ttll10	T	C	4: 156,048,732		probably null	Het
Ube4b	A	G	4: 149,372,932	Y283H	probably damaging	Het
Ucp1	G	T	8: 83,293,938	V126L	possibly damaging	Het
Unc13b	T	A	4: 43,172,596		probably benign	Het
Vps13b	T	C	15: 35,875,772	S2768P	probably damaging	Het
Zcchc6	T	G	13: 59,789,209	Y806S	probably damaging	Het
Zfp101	T	A	17: 33,380,962	M607L	probably benign	Het
Zfp292	C	T	4: 34,805,464	V2527M	possibly damaging	Het
Zfp503	T	A	14: 21,985,562	T429S	possibly damaging	Het

Other mutations in Dglucy

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01483:Dglucy	APN	12	100853217	missense	probably damaging	1.00
IGL01885:Dglucy	APN	12	100850281	missense	probably damaging	0.97
IGL01911:Dglucy	APN	12	100838525	missense	probably damaging	0.96
IGL02240:Dglucy	APN	12	100871413	missense	possibly damaging	0.51
IGL02388:Dglucy	APN	12	100856998	missense	probably damaging	1.00
IGL02653:Dglucy	APN	12	100871431	missense	probably benign
IGL02829:Dglucy	APN	12	100871404	missense	probably damaging	1.00
R0096:Dglucy	UTSW	12	100838651	missense	possibly damaging	0.94
R0096:Dglucy	UTSW	12	100838651	missense	possibly damaging	0.94
R0591:Dglucy	UTSW	12	100859518	splice site	probably benign
R1723:Dglucy	UTSW	12	100842679	missense	probably damaging	1.00
R1765:Dglucy	UTSW	12	100850102	splice site	probably null
R1926:Dglucy	UTSW	12	100867155	missense	possibly damaging	0.94
R1968:Dglucy	UTSW	12	100859644	missense	possibly damaging	0.95
R2004:Dglucy	UTSW	12	100856922	missense	probably damaging	1.00
R3117:Dglucy	UTSW	12	100838678	missense	probably benign
R3716:Dglucy	UTSW	12	100850116	missense	probably damaging	0.97
R3946:Dglucy	UTSW	12	100838700	critical splice donor site	probably null
R3976:Dglucy	UTSW	12	100841389	missense	probably benign	0.01
R4782:Dglucy	UTSW	12	100850343	missense	probably benign	0.00
R4784:Dglucy	UTSW	12	100838664	missense	probably damaging	0.99
R4799:Dglucy	UTSW	12	100850343	missense	probably benign	0.00
R5037:Dglucy	UTSW	12	100835241	missense	probably benign	0.09
R5468:Dglucy	UTSW	12	100850335	missense	probably benign	0.01
R5609:Dglucy	UTSW	12	100787646	missense	probably null
R6452:Dglucy	UTSW	12	100835209	missense	possibly damaging	0.93
R7257:Dglucy	UTSW	12	100842738	missense	probably damaging	1.00
R7488:Dglucy	UTSW	12	100857051	missense	possibly damaging	0.95
R7580:Dglucy	UTSW	12	100850164	missense	probably benign	0.29
R7589:Dglucy	UTSW	12	100841401	missense	probably damaging	1.00
R8181:Dglucy	UTSW	12	100850111	critical splice acceptor site	probably null
R8189:Dglucy	UTSW	12	100838630	missense	probably benign	0.01
R8383:Dglucy	UTSW	12	100835329	missense	probably benign	0.27
R8421:Dglucy	UTSW	12	100842679	missense	probably damaging	1.00
R8719:Dglucy	UTSW	12	100838562	missense	probably damaging	1.00
R8766:Dglucy	UTSW	12	100871447	missense	probably benign
R9182:Dglucy	UTSW	12	100844769	missense	possibly damaging	0.70
X0025:Dglucy	UTSW	12	100838664	missense	possibly damaging	0.84
X0061:Dglucy	UTSW	12	100838598	missense	probably benign	0.04
Z1176:Dglucy	UTSW	12	100853304	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- CAACTAGCACTTGTGGGGAG -3'
(R):5'- AGACACCGTAGACTCTTAGCTTAC -3'

Sequencing Primer
(F):5'- CTAGCACTTGTGGGGAGAAAGATAC -3'
(R):5'- ACTCTGGGGAAGTGCTCTACTAC -3'

Posted On

2017-06-26