Mutagenetix > Incidental Mutation

Incidental Mutation 'R4112:Glyr1'

314484

Institutional Source

Beutler Lab

Gene Symbol

Glyr1

Ensembl Gene

ENSMUSG00000022536

Gene Name

glyoxylate reductase 1 homolog (Arabidopsis)

Synonyms

NDF, 2810419J22Rik, 3930401K13Rik, Npac

MMRRC Submission

040989-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.433) question?

Stock #

R4112 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4831773-4867727 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4836350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 500 (K500E)

Ref Sequence

ENSEMBL: ENSMUSP00000111510 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023189] [ENSMUST00000023191] [ENSMUST00000090453] [ENSMUST00000115844] [ENSMUST00000202281]

AlphaFold

Q922P9

Predicted Effect

probably benign
Transcript: ENSMUST00000023189
AA Change: K494E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000023189
Gene: ENSMUSG00000022536
AA Change: K494E

Domain	Start	End	E-Value	Type
Pfam:PWWP	6	89	1.4e-24	PFAM
low complexity region	109	122	N/A	INTRINSIC
AT_hook	167	179	3.21e-1	SMART
Pfam:NAD_binding_2	266	422	1.2e-36	PFAM
Pfam:F420_oxidored	268	355	2e-6	PFAM
Pfam:NAD_binding_11	423	544	2.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000023191

SMART Domains

Protein: ENSMUSP00000023191
Gene: ENSMUSG00000022540

Domain	Start	End	E-Value	Type
Pfam:Rogdi_lz	18	298	9.7e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090453

SMART Domains

Protein: ENSMUSP00000087938
Gene: ENSMUSG00000022540

Domain	Start	End	E-Value	Type
Pfam:Rogdi_lz	18	210	1.2e-50	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115844
AA Change: K500E

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111510
Gene: ENSMUSG00000022536
AA Change: K500E

Domain	Start	End	E-Value	Type
Pfam:PWWP	6	89	1.8e-24	PFAM
low complexity region	109	122	N/A	INTRINSIC
AT_hook	167	179	3.21e-1	SMART
Pfam:NAD_binding_2	266	428	2.6e-41	PFAM
Pfam:F420_oxidored	268	361	3.2e-9	PFAM
Pfam:NAD_binding_11	429	550	3.4e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201651

Predicted Effect

probably benign
Transcript: ENSMUST00000202281

SMART Domains

Protein: ENSMUSP00000144481
Gene: ENSMUSG00000022540

Domain	Start	End	E-Value	Type
Pfam:Rogdi_lz	18	276	4.4e-49	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202998

Meta Mutation Damage Score

0.1244

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.3%

Validation Efficiency

97% (56/58)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Aamp	A	G	1: 74,320,386 (GRCm39)		probably benign	Het
Abcb4	A	G	5: 8,986,783 (GRCm39)		probably null	Het
Adam6b	T	A	12: 113,453,256 (GRCm39)	F24L	possibly damaging	Het
Alms1	G	A	6: 85,597,870 (GRCm39)	V1368I	probably benign	Het
Angpt2	T	A	8: 18,749,139 (GRCm39)	Q326L	probably damaging	Het
Armc9	T	A	1: 86,116,661 (GRCm39)	I327N	possibly damaging	Het
Bace2	A	G	16: 97,237,856 (GRCm39)	T436A	probably benign	Het
Ccdc162	T	A	10: 41,532,324 (GRCm39)	E450V	possibly damaging	Het
Ccdc7b	G	T	8: 129,811,708 (GRCm39)		probably benign	Het
Cdh17	T	C	4: 11,814,628 (GRCm39)	S728P	probably damaging	Het
Chia1	T	C	3: 106,035,844 (GRCm39)	L168P	probably damaging	Het
Cnot1	A	C	8: 96,500,246 (GRCm39)	L111V	probably damaging	Het
Col14a1	A	T	15: 55,226,955 (GRCm39)	N235I	unknown	Het
Col2a1	A	C	15: 97,881,582 (GRCm39)	L787R	probably benign	Het
Cyp3a25	A	T	5: 145,939,841 (GRCm39)	D55E	probably benign	Het
Dennd6a	A	T	14: 26,349,673 (GRCm39)		probably benign	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Etfbkmt	T	C	6: 149,046,089 (GRCm39)		probably benign	Het
Etfrf1	T	C	6: 145,161,098 (GRCm39)	Y23H	probably damaging	Het
Gemin4	T	A	11: 76,103,645 (GRCm39)	E372V	probably damaging	Het
Gm10271	A	T	10: 116,803,943 (GRCm39)		probably benign	Het
Gm20775	A	T	Y: 10,641,878 (GRCm39)		noncoding transcript	Het
Gm5578	A	G	6: 112,583,466 (GRCm39)		noncoding transcript	Het
Gxylt2	A	G	6: 100,760,167 (GRCm39)	N234S	probably damaging	Het
Kcna6	G	C	6: 126,716,737 (GRCm39)	R51G	probably damaging	Het
Klf17	A	G	4: 117,617,898 (GRCm39)	V153A	possibly damaging	Het
L3mbtl2	T	C	15: 81,566,170 (GRCm39)	V331A	possibly damaging	Het
Med1	A	T	11: 98,070,913 (GRCm39)	V110E	probably damaging	Het
Nsmaf	A	C	4: 6,417,188 (GRCm39)	Y535*	probably null	Het
Pcdh10	G	A	3: 45,336,055 (GRCm39)	V790M	probably damaging	Het
Phlpp1	A	G	1: 106,292,068 (GRCm39)	T976A	probably damaging	Het
Prelid3a	T	C	18: 67,605,967 (GRCm39)	Y25H	probably damaging	Het
Ptprk	T	A	10: 28,351,284 (GRCm39)		probably null	Het
Rbm5	A	T	9: 107,642,796 (GRCm39)	D79E	probably damaging	Het
Rhox3f	G	T	X: 36,763,672 (GRCm39)	E140*	probably null	Het
Rnd3	T	A	2: 51,038,242 (GRCm39)	T78S	possibly damaging	Het
Scart2	G	T	7: 139,878,281 (GRCm39)	G1003*	probably null	Het
Sgca	T	C	11: 94,863,396 (GRCm39)	T27A	possibly damaging	Het
Slc10a2	C	T	8: 5,155,135 (GRCm39)	D17N	probably benign	Het
Snap23	C	T	2: 120,414,856 (GRCm39)		probably benign	Het
Sptb	T	A	12: 76,644,553 (GRCm39)	T2098S	probably damaging	Het
Src	T	A	2: 157,304,946 (GRCm39)	L165H	probably damaging	Het
Srr	G	T	11: 74,803,898 (GRCm39)	Q20K	probably benign	Het
Stt3b	A	T	9: 115,095,206 (GRCm39)	F275Y	probably damaging	Het
Sucnr1	C	G	3: 59,994,215 (GRCm39)	R248G	probably damaging	Het
Thsd7b	A	T	1: 130,044,356 (GRCm39)	D1112V	probably benign	Het
Tmem80	A	G	7: 140,913,692 (GRCm39)		probably benign	Het
Top2a	C	A	11: 98,913,786 (GRCm39)	K18N	probably damaging	Het
Ttc24	T	A	3: 87,981,946 (GRCm39)	D40V	probably damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Zfp3	T	A	11: 70,662,333 (GRCm39)	S97R	probably benign	Het

Other mutations in Glyr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01369:Glyr1	APN	16	4,838,152 (GRCm39)	missense	probably benign
IGL02332:Glyr1	APN	16	4,836,817 (GRCm39)	missense	probably damaging	1.00
IGL02407:Glyr1	APN	16	4,854,812 (GRCm39)	missense	probably benign	0.01
IGL02429:Glyr1	APN	16	4,837,240 (GRCm39)	missense	probably benign	0.28
IGL03255:Glyr1	APN	16	4,866,621 (GRCm39)	splice site	probably null
R0020:Glyr1	UTSW	16	4,854,913 (GRCm39)	missense	probably damaging	1.00
R0309:Glyr1	UTSW	16	4,849,836 (GRCm39)	missense	probably damaging	0.98
R0694:Glyr1	UTSW	16	4,844,424 (GRCm39)	missense	probably damaging	0.99
R0971:Glyr1	UTSW	16	4,839,209 (GRCm39)	frame shift	probably null
R1347:Glyr1	UTSW	16	4,839,203 (GRCm39)	missense	probably damaging	1.00
R1347:Glyr1	UTSW	16	4,839,203 (GRCm39)	missense	probably damaging	1.00
R1382:Glyr1	UTSW	16	4,839,209 (GRCm39)	frame shift	probably null
R1383:Glyr1	UTSW	16	4,839,209 (GRCm39)	frame shift	probably null
R2137:Glyr1	UTSW	16	4,836,346 (GRCm39)	missense	probably benign	0.01
R2254:Glyr1	UTSW	16	4,836,877 (GRCm39)	missense	probably benign	0.01
R3913:Glyr1	UTSW	16	4,849,777 (GRCm39)	missense	probably damaging	1.00
R4629:Glyr1	UTSW	16	4,854,907 (GRCm39)	missense	possibly damaging	0.70
R4795:Glyr1	UTSW	16	4,865,622 (GRCm39)	missense	probably benign	0.40
R5112:Glyr1	UTSW	16	4,836,740 (GRCm39)	nonsense	probably null
R5412:Glyr1	UTSW	16	4,854,297 (GRCm39)	missense	possibly damaging	0.87
R5757:Glyr1	UTSW	16	4,836,856 (GRCm39)	missense	probably benign	0.30
R6425:Glyr1	UTSW	16	4,854,350 (GRCm39)	splice site	probably null
R7646:Glyr1	UTSW	16	4,836,361 (GRCm39)	missense	probably damaging	1.00
R7942:Glyr1	UTSW	16	4,836,785 (GRCm39)	missense	probably benign	0.43
R8415:Glyr1	UTSW	16	4,854,329 (GRCm39)	missense	probably benign	0.35
Z1177:Glyr1	UTSW	16	4,849,837 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGACTGATCAGAAGGGTC -3'
(R):5'- TATTTGAGGCCCCAGAGTAGG -3'

Sequencing Primer
(F):5'- GACCCTGTTCTCAATAAAGTGGG -3'
(R):5'- CCAGAGTAGGCCCTGAGTCTTTTG -3'

Posted On

2015-05-14