Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01736:Gulo'

105714

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gulo

Ensembl Gene

ENSMUSG00000034450

Gene Name

gulonolactone (L-) oxidase

Synonyms

sfx, L-gulono-gamma-lactone oxidase

Accession Numbers

Essential gene?

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

Stock #

IGL01736

Quality Score

Status

Chromosome

Chromosomal Location

66224235-66246656 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66234325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 246 (F246L)

Ref Sequence

ENSEMBL: ENSMUSP00000060912 (fasta)

Gene Model

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

AlphaFold

P58710

Predicted Effect

probably benign
Transcript: ENSMUST00000059970
AA Change: F246L

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000060912
Gene: ENSMUSG00000034450
AA Change: F246L

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

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	G	5: 114,326,503 (GRCm39)	T290A	possibly damaging	Het
Apip	G	A	2: 102,917,486 (GRCm39)	V62M	probably damaging	Het
Appbp2	T	C	11: 85,105,143 (GRCm39)	K141R	possibly damaging	Het
Arhgef18	T	A	8: 3,501,624 (GRCm39)		probably benign	Het
B3galt2	A	G	1: 143,522,583 (GRCm39)	T240A	probably benign	Het
Bivm	A	T	1: 44,180,973 (GRCm39)	N385I	probably damaging	Het
Brd4	A	T	17: 32,417,649 (GRCm39)		probably benign	Het
Cage1	T	C	13: 38,206,789 (GRCm39)	D352G	possibly damaging	Het
Ceacam10	A	G	7: 24,480,535 (GRCm39)	Y102C	probably damaging	Het
Diaph3	T	C	14: 87,156,282 (GRCm39)	D677G	probably benign	Het
Dis3l	T	C	9: 64,226,536 (GRCm39)		probably null	Het
Dnah6	C	T	6: 73,165,360 (GRCm39)	V582M	probably benign	Het
Fndc3b	A	G	3: 27,521,552 (GRCm39)	L541P	probably damaging	Het
Folh1	T	C	7: 86,391,444 (GRCm39)	T384A	possibly damaging	Het
Gdpd3	T	C	7: 126,365,695 (GRCm39)	L18P	probably damaging	Het
Grxcr2	T	A	18: 42,132,047 (GRCm39)	K7N	probably damaging	Het
Inpp4b	A	T	8: 82,723,968 (GRCm39)	D500V	probably benign	Het
Ints4	C	T	7: 97,175,849 (GRCm39)	L647F	probably benign	Het
Kif17	T	A	4: 138,013,876 (GRCm39)	L264Q	possibly damaging	Het
Kif21a	T	C	15: 90,843,948 (GRCm39)	N1104S	possibly damaging	Het
Ly6e	T	G	15: 74,830,546 (GRCm39)	L132R	probably benign	Het
Mis18bp1	T	A	12: 65,185,452 (GRCm39)	H905L	probably damaging	Het
Nr2f2	A	G	7: 70,004,446 (GRCm39)	S269P	probably damaging	Het
Or2b2b	C	A	13: 21,858,787 (GRCm39)	C109F	probably benign	Het
Or2o1	G	A	11: 49,051,354 (GRCm39)	C171Y	probably damaging	Het
Or5d46	T	A	2: 88,170,771 (GRCm39)	N287K	probably damaging	Het
Pde8b	T	C	13: 95,166,910 (GRCm39)	I757V	probably damaging	Het
Psg23	A	T	7: 18,346,122 (GRCm39)	I191N	possibly damaging	Het
Slc12a4	A	T	8: 106,672,475 (GRCm39)		probably null	Het
Snph	A	T	2: 151,436,093 (GRCm39)	Y209*	probably null	Het
Tnfaip3	T	C	10: 18,882,649 (GRCm39)	H256R	probably damaging	Het
Tnip3	T	A	6: 65,573,107 (GRCm39)		probably benign	Het
Ttc3	T	A	16: 94,243,386 (GRCm39)	F1130Y	probably damaging	Het
Twnk	T	G	19: 44,998,627 (GRCm39)	V515G	probably damaging	Het
Usp24	T	A	4: 106,280,658 (GRCm39)	I2324K	probably benign	Het
Vwa7	T	C	17: 35,238,827 (GRCm39)	F305S	probably damaging	Het
Ythdc2	A	T	18: 44,983,735 (GRCm39)	Q567L	probably damaging	Het
Zbtb11	T	A	16: 55,818,523 (GRCm39)	I649K	probably damaging	Het
Zbtb49	T	C	5: 38,358,204 (GRCm39)	Y683C	probably damaging	Het
Zfhx4	A	T	3: 5,309,152 (GRCm39)	M793L	possibly damaging	Het
Zmym6	T	G	4: 127,002,437 (GRCm39)	I556R	probably damaging	Het
Zswim8	C	T	14: 20,764,780 (GRCm39)	P717S	probably benign	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
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
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

Posted On

2014-01-21