Mutagenetix > Incidental Mutation

Incidental Mutation 'R8720:Gulo'

670094

Institutional Source

Beutler Lab

Gene Symbol

Gulo

Ensembl Gene

ENSMUSG00000034450

Gene Name

gulonolactone (L-) oxidase

Synonyms

sfx, L-gulono-gamma-lactone oxidase

MMRRC Submission

068571-MU

Accession Numbers

Essential gene?

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

Stock #

R8720 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66224235-66246656 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66225074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 422 (E422K)

Ref Sequence

ENSEMBL: ENSMUSP00000060912 (fasta)

Gene Model

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

AlphaFold

P58710

Predicted Effect

probably benign
Transcript: ENSMUST00000059970
AA Change: E422K

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000060912
Gene: ENSMUSG00000034450
AA Change: E422K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	T	C	11: 61,104,305 (GRCm39)	V64A	probably benign	Het
Anln	T	C	9: 22,284,573 (GRCm39)	H379R	probably benign	Het
Asb2	A	G	12: 103,291,680 (GRCm39)	Y416H	probably damaging	Het
Atp2b4	TTCTTC	TTCTTCGTCTTC	1: 133,629,465 (GRCm39)		probably benign	Het
Chsy1	T	A	7: 65,821,088 (GRCm39)	M441K	possibly damaging	Het
Cmas	A	G	6: 142,716,929 (GRCm39)	K274E	probably damaging	Het
Cmip	A	G	8: 118,138,010 (GRCm39)	Y75C	probably damaging	Het
Col17a1	T	A	19: 47,637,531 (GRCm39)		probably benign	Het
Col3a1	A	G	1: 45,386,893 (GRCm39)	Y1368C	unknown	Het
Cracdl	A	G	1: 37,652,522 (GRCm39)	F1095S	possibly damaging	Het
Cspg4	C	T	9: 56,794,797 (GRCm39)	T844I	probably benign	Het
Dnai7	G	T	6: 145,150,983 (GRCm39)	R30S	unknown	Het
Ect2	A	T	3: 27,169,647 (GRCm39)	N766K	probably damaging	Het
Fanci	C	A	7: 79,089,425 (GRCm39)	Q954K	possibly damaging	Het
Gm30083	A	G	14: 33,736,895 (GRCm39)	S21P	probably benign	Het
Helq	A	G	5: 100,914,561 (GRCm39)	V977A	probably damaging	Het
Herc1	A	G	9: 66,389,105 (GRCm39)	D3874G	probably benign	Het
Hsf4	G	T	8: 105,996,605 (GRCm39)	D34Y	probably damaging	Het
Il18	G	A	9: 50,476,684 (GRCm39)		probably benign	Het
Il22ra2	A	T	10: 19,508,599 (GRCm39)	E209V	probably damaging	Het
Ino80	A	T	2: 119,232,868 (GRCm39)	L1150Q	probably damaging	Het
Kif16b	A	G	2: 142,691,792 (GRCm39)	F231L	probably damaging	Het
Krtap19-4	A	G	16: 88,681,846 (GRCm39)	Y37H	unknown	Het
Lama4	A	T	10: 38,971,079 (GRCm39)	D1548V	probably damaging	Het
Lrig2	C	T	3: 104,418,998 (GRCm39)	A4T	probably damaging	Het
Lrp4	A	T	2: 91,324,459 (GRCm39)	I1265F	probably damaging	Het
Muc16	T	A	9: 18,552,896 (GRCm39)	T4466S	probably benign	Het
Myo1e	A	G	9: 70,204,570 (GRCm39)	I57V	possibly damaging	Het
Naip2	A	T	13: 100,298,630 (GRCm39)	Y469N	probably benign	Het
Nav1	G	A	1: 135,388,464 (GRCm39)	R1065C	unknown	Het
Nps	C	T	7: 134,874,045 (GRCm39)	R72C	probably damaging	Het
Nup210l	G	A	3: 90,117,681 (GRCm39)	V1796I	probably benign	Het
Pdzd7	T	C	19: 45,024,667 (GRCm39)	K451E	probably benign	Het
Pigv	A	T	4: 133,392,968 (GRCm39)	D67E	probably damaging	Het
Pik3cg	A	T	12: 32,243,688 (GRCm39)	F928I	probably benign	Het
Pkn3	A	G	2: 29,975,196 (GRCm39)	N486D	probably benign	Het
Ppp2r3d	A	G	9: 101,089,084 (GRCm39)	L413P	probably damaging	Het
Rbm45	G	T	2: 76,210,711 (GRCm39)	R414L	probably damaging	Het
Sap30l	A	T	11: 57,698,875 (GRCm39)	N116I	probably damaging	Het
Slc17a5	A	T	9: 78,485,945 (GRCm39)	F47I	probably damaging	Het
Slco1a7	A	T	6: 141,668,852 (GRCm39)	S527T	probably benign	Het
Srbd1	A	T	17: 86,358,571 (GRCm39)	D659E	probably damaging	Het
Sycp3	A	G	10: 88,298,394 (GRCm39)	Q40R	probably benign	Het
Trip13	T	C	13: 74,063,590 (GRCm39)	S374G	probably benign	Het
Ubr4	T	C	4: 139,208,149 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,090,715 (GRCm39)	V449I	probably benign	Het
Vmn1r211	A	T	13: 23,036,031 (GRCm39)	V212D	probably damaging	Het
Vmn2r111	T	A	17: 22,792,194 (GRCm39)	I21F	possibly damaging	Het
Zmiz2	A	T	11: 6,349,904 (GRCm39)	I491F	possibly 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
R6328:Gulo	UTSW	14	66,240,080 (GRCm39)	missense	probably damaging	1.00
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
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'- CCTTGTGTTCAGGAGAGGTC -3'
(R):5'- TCATGGGGTGCATTTTAAGGCC -3'

Sequencing Primer
(F):5'- AGAGGTCGTCTCCCACTGTG -3'
(R):5'- AGGCCTTTTAGCGTTATCTTCAAGAC -3'

Posted On

2021-04-30