Mutagenetix > Incidental Mutation

Incidental Mutation 'R6328:Gulo'

510829

Institutional Source

Beutler Lab

Gene Symbol

Gulo

Ensembl Gene

ENSMUSG00000034450

Gene Name

gulonolactone (L-) oxidase

Synonyms

sfx, L-gulono-gamma-lactone oxidase

MMRRC Submission

044482-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R6328 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66224235-66246656 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 66240080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 126 (T126K)

Ref Sequence

ENSEMBL: ENSMUSP00000060912 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059970]

AlphaFold

P58710

Predicted Effect

probably damaging
Transcript: ENSMUST00000059970
AA Change: T126K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000060912
Gene: ENSMUSG00000034450
AA Change: T126K

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_4	21	156	7.6e-36	PFAM
Pfam:ALO	180	438	2.8e-92	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (57/58)

MGI Phenotype

PHENOTYPE: Homozygotes for spontaneous mutations exhibit impaired growth and mobility, decreased spleen and thymus weights, reduced serum calcium, phosphate, alkaline phosphatase, IGF1, and osteocalcin levels, and small, fragile and histologically abnormal bones. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,420,300 (GRCm39)		probably benign	Het
Abcb10	G	A	8: 124,688,756 (GRCm39)	R507W	probably damaging	Het
Actg1	T	C	11: 120,238,586 (GRCm39)	D80G	possibly damaging	Het
Actr5	A	G	2: 158,477,264 (GRCm39)	D405G	possibly damaging	Het
Ahnak	C	T	19: 8,984,512 (GRCm39)	T1932I	probably benign	Het
Ankk1	T	A	9: 49,327,371 (GRCm39)	T603S	possibly damaging	Het
Atp13a3	A	T	16: 30,155,053 (GRCm39)	F964I	probably damaging	Het
Atp6v1g3	A	G	1: 138,215,570 (GRCm39)	T77A	probably benign	Het
Bccip	A	G	7: 133,319,503 (GRCm39)	H198R	probably damaging	Het
Bsx	A	T	9: 40,785,519 (GRCm39)	R16W	probably damaging	Het
Ccdc88b	C	T	19: 6,826,406 (GRCm39)	R1103Q	probably damaging	Het
Cd59a	A	C	2: 103,941,103 (GRCm39)	Y27S	probably damaging	Het
Cdk20	A	G	13: 64,584,413 (GRCm39)	H162R	probably damaging	Het
Col6a2	C	T	10: 76,450,212 (GRCm39)	E240K	possibly damaging	Het
Ddr2	A	G	1: 169,814,634 (GRCm39)	V603A	possibly damaging	Het
Dgkz	A	G	2: 91,772,980 (GRCm39)	V359A	probably benign	Het
Dis3l2	T	A	1: 86,782,153 (GRCm39)	S223T	probably benign	Het
Dpysl4	A	G	7: 138,679,734 (GRCm39)	S535G	probably benign	Het
Dsp	A	T	13: 38,380,982 (GRCm39)	K1977*	probably null	Het
Dync2h1	A	T	9: 7,165,717 (GRCm39)	S515T	probably benign	Het
Epg5	A	G	18: 78,072,179 (GRCm39)	E2397G	possibly damaging	Het
Fam83d	G	A	2: 158,627,096 (GRCm39)	G262S	probably damaging	Het
Frmd4a	A	T	2: 4,595,509 (GRCm39)	T477S	probably damaging	Het
Gbp3	A	G	3: 142,274,819 (GRCm39)	E382G	probably benign	Het
Gltp	A	T	5: 114,808,572 (GRCm39)	C157S	possibly damaging	Het
Grb10	A	G	11: 11,887,905 (GRCm39)	S378P	probably damaging	Het
H2-M10.6	T	A	17: 37,124,836 (GRCm39)	M251K	probably damaging	Het
Hecw1	T	C	13: 14,422,205 (GRCm39)	D967G	possibly damaging	Het
Htr3b	A	T	9: 48,858,933 (GRCm39)	D68E	probably damaging	Het
Igkv5-39	G	T	6: 69,877,489 (GRCm39)	S89*	probably null	Het
Kctd4	C	A	14: 76,200,037 (GRCm39)		probably benign	Het
Lmna	T	C	3: 88,393,813 (GRCm39)	Q255R	probably damaging	Het
Lsmem1	A	G	12: 40,230,656 (GRCm39)	I82T	possibly damaging	Het
Lyg2	T	A	1: 37,950,194 (GRCm39)	M45L	probably benign	Het
Myo5b	G	A	18: 74,750,064 (GRCm39)	A176T	probably damaging	Het
Nudt5	A	T	2: 5,869,248 (GRCm39)	K158I	possibly damaging	Het
Nufip1	C	T	14: 76,348,494 (GRCm39)	P41L	possibly damaging	Het
Or4f14b	A	T	2: 111,775,739 (GRCm39)	W21R	probably null	Het
Or52z13	A	T	7: 103,247,073 (GRCm39)	E183D	probably damaging	Het
Pcp2	T	C	8: 3,674,887 (GRCm39)	D22G	probably damaging	Het
Pdk2	G	C	11: 94,930,228 (GRCm39)	N69K	possibly damaging	Het
Pdlim7	G	T	13: 55,655,905 (GRCm39)		probably benign	Het
Ptprc	C	A	1: 138,041,416 (GRCm39)	E148*	probably null	Het
Rassf5	A	T	1: 131,108,405 (GRCm39)	V225E	probably damaging	Het
Rbm6	A	T	9: 107,664,458 (GRCm39)	M725K	probably benign	Het
Scn1a	T	A	2: 66,103,660 (GRCm39)	I1867F	probably damaging	Het
Sdk2	T	A	11: 113,684,581 (GRCm39)	Q1960L	probably damaging	Het
Setx	A	G	2: 29,064,474 (GRCm39)		probably benign	Het
Sgo2b	T	A	8: 64,381,345 (GRCm39)	R496*	probably null	Het
Slco1a1	C	T	6: 141,878,176 (GRCm39)	V222I	probably damaging	Het
Sntg2	A	C	12: 30,308,013 (GRCm39)	L224R	probably damaging	Het
Syt16	C	A	12: 74,313,467 (GRCm39)	C464*	probably null	Het
Tapbpl	T	A	6: 125,201,881 (GRCm39)	S420C	probably benign	Het
Tax1bp1	A	G	6: 52,723,694 (GRCm39)	E528G	probably benign	Het
Tmem168	T	C	6: 13,602,710 (GRCm39)	T219A	probably benign	Het
Zfp180	T	C	7: 23,804,981 (GRCm39)	F467L	probably damaging	Het

Other mutations in Gulo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Gulo	APN	14	66,243,398 (GRCm39)	missense	probably damaging	1.00
IGL01736:Gulo	APN	14	66,234,325 (GRCm39)	missense	probably benign	0.24
R0599:Gulo	UTSW	14	66,227,890 (GRCm39)	missense	probably damaging	1.00
R2014:Gulo	UTSW	14	66,246,496 (GRCm39)	start codon destroyed	probably benign
R2058:Gulo	UTSW	14	66,228,608 (GRCm39)	missense	possibly damaging	0.51
R2079:Gulo	UTSW	14	66,227,832 (GRCm39)	missense	probably damaging	1.00
R2405:Gulo	UTSW	14	66,228,477 (GRCm39)	critical splice donor site	probably null
R4196:Gulo	UTSW	14	66,225,702 (GRCm39)	missense	possibly damaging	0.49
R4807:Gulo	UTSW	14	66,227,833 (GRCm39)	missense	probably benign	0.00
R5341:Gulo	UTSW	14	66,225,707 (GRCm39)	missense	probably benign	0.12
R5913:Gulo	UTSW	14	66,237,470 (GRCm39)	critical splice acceptor site	probably null
R5915:Gulo	UTSW	14	66,245,570 (GRCm39)	missense	probably benign	0.29
R6628:Gulo	UTSW	14	66,241,619 (GRCm39)	missense	probably benign	0.00
R7725:Gulo	UTSW	14	66,245,522 (GRCm39)	missense	probably damaging	0.99
R7935:Gulo	UTSW	14	66,237,288 (GRCm39)	missense	probably benign
R8720:Gulo	UTSW	14	66,225,074 (GRCm39)	missense	probably benign	0.01
R8940:Gulo	UTSW	14	66,235,040 (GRCm39)	missense	probably benign	0.04
R9458:Gulo	UTSW	14	66,235,043 (GRCm39)	missense	probably benign	0.01
R9716:Gulo	UTSW	14	66,234,348 (GRCm39)	missense	probably benign	0.00
R9746:Gulo	UTSW	14	66,225,630 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCCTTTGAGGATGTGCAGAG -3'
(R):5'- CACAAGCTGGGCCATCAAAG -3'

Sequencing Primer
(F):5'- CAGAGGTGGGGATGGCTTGAG -3'
(R):5'- CCATCAAAGGTAAAGGGGAATTCTC -3'

Posted On

2018-04-02