Mutagenetix > Incidental Mutation

Incidental Mutation 'R5757:Glyr1'

445117

Institutional Source

Beutler Lab

Gene Symbol

Glyr1

Ensembl Gene

ENSMUSG00000022536

Gene Name

glyoxylate reductase 1 homolog (Arabidopsis)

Synonyms

NDF, 2810419J22Rik, 3930401K13Rik, Npac

MMRRC Submission

043360-MU

Accession Numbers

Essential gene?

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

Stock #

R5757 (G1)

Quality Score

190

Status

Not validated

Chromosome

Chromosomal Location

4831773-4867727 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4836856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 436 (M436K)

Ref Sequence

ENSEMBL: ENSMUSP00000111510 (fasta)

Gene Model

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

AlphaFold

Q922P9

Predicted Effect

probably benign
Transcript: ENSMUST00000023189
AA Change: M430K

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000023189
Gene: ENSMUSG00000022536
AA Change: M430K

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: ENSMUST00000115844
AA Change: M436K

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000111510
Gene: ENSMUSG00000022536
AA Change: M436K

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

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	C	T	11: 109,933,794 (GRCm39)	A1204T	probably benign	Het
Adcy5	G	T	16: 35,092,451 (GRCm39)	R604L	probably damaging	Het
Ago4	A	T	4: 126,419,877 (GRCm39)	N33K	probably damaging	Het
Arid5b	T	C	10: 67,937,909 (GRCm39)	Y406C	probably damaging	Het
Asgr1	A	C	11: 69,945,778 (GRCm39)	H18P	probably benign	Het
Asph	A	C	4: 9,637,722 (GRCm39)		probably null	Het
Brd4	G	A	17: 32,420,272 (GRCm39)		probably benign	Het
Ccdc150	T	A	1: 54,302,779 (GRCm39)	I133N	probably damaging	Het
Cdon	A	C	9: 35,364,068 (GRCm39)	H62P	probably damaging	Het
Clec4b1	T	A	6: 123,046,713 (GRCm39)	Y157*	probably null	Het
Clip1	G	A	5: 123,765,460 (GRCm39)	T810I	probably benign	Het
Crocc	A	T	4: 140,770,875 (GRCm39)	L184Q	probably damaging	Het
Fat2	C	T	11: 55,143,172 (GRCm39)	G4226R	probably damaging	Het
Fbxo30	T	A	10: 11,166,165 (GRCm39)	C296S	probably benign	Het
Fndc3a	T	C	14: 72,794,025 (GRCm39)	K883E	probably benign	Het
Gm525	A	T	11: 88,965,872 (GRCm39)	Q38L	probably benign	Het
Gnas	T	A	2: 174,187,040 (GRCm39)	V941D	probably damaging	Het
Hectd4	G	C	5: 121,486,682 (GRCm39)	E3226Q	possibly damaging	Het
Ints13	G	A	6: 146,451,604 (GRCm39)	R714C	probably benign	Het
Kif12	A	T	4: 63,088,755 (GRCm39)	W182R	probably damaging	Het
Kif21a	A	G	15: 90,835,548 (GRCm39)	L1272P	probably damaging	Het
Klhl14	A	C	18: 21,687,791 (GRCm39)	Y544D	probably damaging	Het
Kntc1	T	C	5: 123,945,372 (GRCm39)		probably null	Het
Lama1	G	A	17: 68,045,782 (GRCm39)	R229Q	possibly damaging	Het
Ltbp1	T	A	17: 75,580,944 (GRCm39)		probably null	Het
Map4k5	A	T	12: 69,871,429 (GRCm39)	C498S	probably damaging	Het
Myh9	A	T	15: 77,655,362 (GRCm39)	V1198E	probably benign	Het
Ncoa6	T	C	2: 155,253,528 (GRCm39)	D950G	probably damaging	Het
Obsl1	G	T	1: 75,469,699 (GRCm39)	A1106D	probably damaging	Het
Or5m9	T	A	2: 85,876,910 (GRCm39)	V28E	possibly damaging	Het
Or8k27	T	C	2: 86,275,922 (GRCm39)	I135V	probably benign	Het
Otog	T	A	7: 45,890,545 (GRCm39)		probably null	Het
Oxtr	A	T	6: 112,454,222 (GRCm39)	I14N	probably damaging	Het
Pfkfb3	A	T	2: 11,485,141 (GRCm39)	S490R	probably damaging	Het
Polk	A	C	13: 96,620,760 (GRCm39)	M560R	probably benign	Het
Polq	C	T	16: 36,907,043 (GRCm39)	H2335Y	probably benign	Het
Prr14	T	A	7: 127,074,725 (GRCm39)	V419D	possibly damaging	Het
Rflnb	A	G	11: 75,912,992 (GRCm39)	V132A	probably damaging	Het
Rxfp1	T	G	3: 79,568,627 (GRCm39)	I283L	possibly damaging	Het
Ryr3	G	A	2: 112,672,320 (GRCm39)	R1384C	probably damaging	Het
Scnn1g	T	A	7: 121,337,438 (GRCm39)	C100S	probably damaging	Het
Sfrp2	G	C	3: 83,673,933 (GRCm39)	G29R	possibly damaging	Het
Spop	A	G	11: 95,381,208 (GRCm39)	H312R	probably damaging	Het
Tpx2	A	G	2: 152,727,151 (GRCm39)		probably null	Het
Wdr4	A	T	17: 31,718,063 (GRCm39)	V337E	probably damaging	Het
Zbtb11	A	G	16: 55,827,392 (GRCm39)	N953D	probably damaging	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	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
R4112:Glyr1	UTSW	16	4,836,350 (GRCm39)	missense	possibly damaging	0.83
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
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'- CTTTCCTGGATGGTCTGACC -3'
(R):5'- TTTGCCAGACACAATTAGTACCTGG -3'

Sequencing Primer
(F):5'- TGGATGGTCTGACCCAGCTG -3'
(R):5'- GAAGGAAAAAGAGCCAGTCCTGTC -3'

Posted On

2016-11-21