Mutagenetix > Incidental Mutation

Incidental Mutation 'R9716:Gulo'

730484

Institutional Source

Beutler Lab

Gene Symbol

Gulo

Ensembl Gene

ENSMUSG00000034450

Gene Name

gulonolactone (L-) oxidase

Synonyms

sfx, L-gulono-gamma-lactone oxidase

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R9716 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66224235-66246656 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66234348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 238 (E238G)

Ref Sequence

ENSEMBL: ENSMUSP00000060912 (fasta)

Gene Model

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

AlphaFold

P58710

Predicted Effect

probably benign
Transcript: ENSMUST00000059970
AA Change: E238G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000060912
Gene: ENSMUSG00000034450
AA Change: E238G

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: 99.9%
10x: 99.7%
20x: 99.0%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	A	8: 25,204,274 (GRCm39)	K178I	possibly damaging	Het
Adarb1	T	A	10: 77,131,539 (GRCm39)	H650L	possibly damaging	Het
Alms1	G	T	6: 85,578,234 (GRCm39)	L187F	possibly damaging	Het
Ano3	T	A	2: 110,601,376 (GRCm39)	N294I	probably damaging	Het
Asb3	T	A	11: 31,031,460 (GRCm39)	M360K	probably benign	Het
Atp6v0d2	T	C	4: 19,890,834 (GRCm39)	I109V	probably benign	Het
C9	A	T	15: 6,526,430 (GRCm39)		probably null	Het
Calcr	A	T	6: 3,687,468 (GRCm39)	I510N	probably benign	Het
Cdc5l	G	A	17: 45,744,500 (GRCm39)		probably benign	Het
Cdca3	T	A	6: 124,809,172 (GRCm39)	I104N	probably benign	Het
Chpt1	C	T	10: 88,339,446 (GRCm39)		probably null	Het
Chrna5	A	G	9: 54,911,919 (GRCm39)	I240V	probably benign	Het
Dhx29	T	C	13: 113,081,612 (GRCm39)	V412A	possibly damaging	Het
Dnah11	T	A	12: 118,024,148 (GRCm39)	M1868L	probably damaging	Het
Dock6	A	G	9: 21,742,418 (GRCm39)	V269A	probably benign	Het
Eif4b	T	C	15: 101,990,443 (GRCm39)	S16P	probably benign	Het
Eppk1	G	A	15: 75,994,526 (GRCm39)	T785I	probably benign	Het
Ezh2	T	C	6: 47,531,141 (GRCm39)	Y181C	possibly damaging	Het
Fem1c	T	C	18: 46,657,561 (GRCm39)	Y51C	probably damaging	Het
Garin5a	A	T	7: 44,150,405 (GRCm39)	E199V	probably damaging	Het
Glt8d2	T	C	10: 82,496,644 (GRCm39)	N138S	probably damaging	Het
Gltp	A	G	5: 114,808,470 (GRCm39)	*210Q	probably null	Het
Gm10318	T	A	10: 77,689,102 (GRCm39)	V123D	unknown	Het
Gm5134	C	T	10: 75,821,943 (GRCm39)	T259I	probably benign	Het
Gm6526	T	A	14: 43,988,309 (GRCm39)	C187S	probably benign	Het
Golga2	T	A	2: 32,189,287 (GRCm39)	S273T	probably damaging	Het
Htt	G	A	5: 35,012,019 (GRCm39)	V1565M	probably damaging	Het
Inpp5d	A	T	1: 87,625,191 (GRCm39)	D457V	possibly damaging	Het
Itpk1	C	T	12: 102,572,347 (GRCm39)		probably null	Het
Kif20a	T	C	18: 34,762,228 (GRCm39)	C414R	possibly damaging	Het
Klra3	T	C	6: 130,300,602 (GRCm39)	I256V	probably damaging	Het
Klrb1a	T	C	6: 128,597,239 (GRCm39)	T60A	probably benign	Het
Kmt2d	T	C	15: 98,741,283 (GRCm39)	K4592E	unknown	Het
Lama3	T	C	18: 12,583,460 (GRCm39)	C683R	probably damaging	Het
Lhcgr	A	G	17: 89,050,446 (GRCm39)	I360T	probably damaging	Het
Lmod2	G	A	6: 24,604,182 (GRCm39)	V386I	possibly damaging	Het
Med29	T	C	7: 28,086,308 (GRCm39)	I167V	possibly damaging	Het
Mis18bp1	T	A	12: 65,205,337 (GRCm39)		probably benign	Het
Mtus2	A	G	5: 148,013,464 (GRCm39)	K86E	possibly damaging	Het
Ndst4	T	A	3: 125,232,211 (GRCm39)	L260Q	probably damaging	Het
Neurod2	T	C	11: 98,218,444 (GRCm39)	Y240C	probably damaging	Het
Nsd1	T	C	13: 55,458,313 (GRCm39)	V2142A	possibly damaging	Het
Or10ag55-ps1	T	A	2: 87,115,491 (GRCm39)	S286T	probably damaging	Het
Or10c1	G	T	17: 37,522,355 (GRCm39)	R130S	possibly damaging	Het
Or1q1	C	T	2: 36,887,290 (GRCm39)	A156V	probably damaging	Het
Or6p1	T	A	1: 174,258,641 (GRCm39)	S216T	probably benign	Het
Pcm1	T	A	8: 41,728,168 (GRCm39)	S542T	probably damaging	Het
Pde7a	C	T	3: 19,285,167 (GRCm39)	G340D	probably benign	Het
Phkb	T	G	8: 86,604,798 (GRCm39)	C68G	probably null	Het
Ppif	A	G	14: 25,695,921 (GRCm39)	T73A	possibly damaging	Het
Prkacb	T	C	3: 146,463,475 (GRCm39)	E79G	probably damaging	Het
Ptprz1	G	T	6: 22,959,650 (GRCm39)	W49L	probably damaging	Het
Ring1	T	C	17: 34,240,420 (GRCm39)	E386G	possibly damaging	Het
Rp1	A	G	1: 4,212,833 (GRCm39)		probably null	Het
Rrm2	T	C	12: 24,760,446 (GRCm39)	Y177H	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGAGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Scn4b	T	A	9: 45,060,639 (GRCm39)	I180N	probably damaging	Het
Slc22a12	A	G	19: 6,586,765 (GRCm39)		probably null	Het
Spa17	C	T	9: 37,518,921 (GRCm39)	A73T	probably damaging	Het
Ssh3	C	T	19: 4,312,437 (GRCm39)	R636Q	probably benign	Het
Sugp2	C	A	8: 70,712,370 (GRCm39)	T995K	probably damaging	Het
Sumo3	T	A	10: 77,442,792 (GRCm39)	V4E	unknown	Het
Svil	C	A	18: 5,062,370 (GRCm39)	Q810K	probably damaging	Het
Tbr1	C	T	2: 61,635,077 (GRCm39)	P9L	probably benign	Het
Tmem26	C	T	10: 68,576,790 (GRCm39)	P78L	probably damaging	Het
Ttll9	A	G	2: 152,818,136 (GRCm39)	H42R	probably benign	Het
Usb1	T	C	8: 96,070,685 (GRCm39)	Y204H	probably damaging	Het
Vcpip1	A	G	1: 9,815,948 (GRCm39)	Y812H	probably benign	Het
Vmn2r15	T	C	5: 109,445,224 (GRCm39)	R67G	possibly damaging	Het
Wdr64	A	T	1: 175,622,658 (GRCm39)	I802L	probably benign	Het
Xndc1	T	C	7: 101,725,114 (GRCm39)	S100P	probably damaging	Het
Xpot	T	C	10: 121,447,392 (GRCm39)	I128V	probably benign	Het
Xrn1	C	T	9: 95,927,632 (GRCm39)	S1472F	possibly damaging	Het
Zscan12	A	T	13: 21,547,938 (GRCm39)	Y40F	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
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
R9746:Gulo	UTSW	14	66,225,630 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GATTTTCCTTGCTTAGAATGAACCC -3'
(R):5'- GAAGAAATAAGGCTTCCAGATTGTCC -3'

Sequencing Primer
(F):5'- TTCTGATATGCAGTCAGGGATAGACC -3'
(R):5'- CCTGGTAGGTGGGTCATCTCAC -3'

Posted On

2022-10-06