Mutagenetix > Incidental Mutation

Incidental Mutation 'R5341:Gulo'

422352

Institutional Source

Beutler Lab

Gene Symbol

Gulo

Ensembl Gene

ENSMUSG00000034450

Gene Name

gulonolactone (L-) oxidase

Synonyms

sfx, L-gulono-gamma-lactone oxidase

MMRRC Submission

042920-MU

Accession Numbers

Essential gene?

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

Stock #

R5341 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66224235-66246656 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66225707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 373 (D373G)

Ref Sequence

ENSEMBL: ENSMUSP00000060912 (fasta)

Gene Model

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

AlphaFold

P58710

Predicted Effect

probably benign
Transcript: ENSMUST00000059970
AA Change: D373G

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000060912
Gene: ENSMUSG00000034450
AA Change: D373G

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.2%

Validation Efficiency

97% (64/66)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	A	G	10: 85,223,236 (GRCm39)	D15G	unknown	Het
Actr5	C	A	2: 158,467,144 (GRCm39)	S28*	probably null	Het
Adcy1	A	C	11: 7,080,375 (GRCm39)	M373L	probably damaging	Het
Adcyap1r1	C	G	6: 55,455,054 (GRCm39)	F111L	probably benign	Het
Arid5b	A	T	10: 68,113,957 (GRCm39)	F27I	possibly damaging	Het
Art5	C	A	7: 101,747,306 (GRCm39)	V158L	probably benign	Het
Bora	T	A	14: 99,305,530 (GRCm39)	Y300N	probably damaging	Het
Cd300a	A	G	11: 114,784,288 (GRCm39)	T99A	probably damaging	Het
Cdon	A	G	9: 35,381,431 (GRCm39)	Y607C	probably damaging	Het
Cenatac	A	G	9: 44,328,406 (GRCm39)		probably null	Het
Cpxm2	T	A	7: 131,756,342 (GRCm39)		probably benign	Het
Cstdc7	A	G	18: 42,306,496 (GRCm39)	D21G	possibly damaging	Het
Dhx8	AGACCGGGACCGGGACCGGGACCGGGAC	AGACCGGGACCGGGACCGGGAC	11: 101,629,016 (GRCm39)		probably benign	Het
Dync2i1	T	C	12: 116,219,534 (GRCm39)	E136G	possibly damaging	Het
Enox1	A	C	14: 77,815,096 (GRCm39)	T85P	possibly damaging	Het
Fanci	T	C	7: 79,055,926 (GRCm39)	L158P	probably damaging	Het
Gbgt1	C	A	2: 28,395,019 (GRCm39)	T219N	probably damaging	Het
Hivep2	C	A	10: 14,008,336 (GRCm39)	Q1645K	possibly damaging	Het
Iqce	A	C	5: 140,675,814 (GRCm39)	M114R	possibly damaging	Het
Lmbrd1	A	T	1: 24,785,892 (GRCm39)	K396*	probably null	Het
Lrrk2	A	T	15: 91,657,061 (GRCm39)	D1785V	probably damaging	Het
Matcap1	A	T	8: 106,011,687 (GRCm39)	M226K	probably damaging	Het
Mcmdc2	ATAAAAAAAAAGGAAAAATTACCTT	AT	1: 10,011,142 (GRCm39)		probably null	Het
Mepce	A	G	5: 137,781,522 (GRCm39)	V564A	probably damaging	Het
Mmp17	A	T	5: 129,679,193 (GRCm39)	D364V	possibly damaging	Het
Mrgpre	T	C	7: 143,335,246 (GRCm39)	N86D	probably benign	Het
Ms4a20	T	C	19: 11,087,745 (GRCm39)		probably benign	Het
Or2r11	A	T	6: 42,437,098 (GRCm39)	L285Q	probably damaging	Het
Or4f53	T	A	2: 111,087,982 (GRCm39)	I174K	probably damaging	Het
Pate11	A	T	9: 36,388,357 (GRCm39)	K61*	probably null	Het
Pax5	T	C	4: 44,697,630 (GRCm39)	D35G	probably damaging	Het
Pip5k1b	T	A	19: 24,281,440 (GRCm39)	T473S	probably benign	Het
Pkd2l2	A	G	18: 34,542,987 (GRCm39)		probably null	Het
Pygo2	C	A	3: 89,340,067 (GRCm39)	P155Q	probably damaging	Het
Rb1cc1	G	T	1: 6,285,266 (GRCm39)		probably benign	Het
Rbpj	A	G	5: 53,799,425 (GRCm39)	E80G	possibly damaging	Het
Sbno1	A	C	5: 124,546,538 (GRCm39)		probably null	Het
Slc1a1	T	A	19: 28,874,968 (GRCm39)	V182E	probably benign	Het
Slc34a3	A	T	2: 25,120,671 (GRCm39)	F419I	probably benign	Het
Snx8	A	G	5: 140,343,886 (GRCm39)	V62A	probably damaging	Het
Sp9	T	C	2: 73,104,858 (GRCm39)	S471P	possibly damaging	Het
Sspo	A	T	6: 48,436,549 (GRCm39)	S1270C	probably damaging	Het
Stk11	A	T	10: 79,962,094 (GRCm39)	T83S	probably benign	Het
Syt13	A	G	2: 92,783,897 (GRCm39)	E389G	probably benign	Het
Taf10	T	C	7: 105,390,139 (GRCm39)		probably benign	Het
Tgm1	A	T	14: 55,937,705 (GRCm39)	S801R	possibly damaging	Het
Thoc2l	A	T	5: 104,665,942 (GRCm39)	T155S	probably damaging	Het
Timeless	T	C	10: 128,083,047 (GRCm39)	F628L	possibly damaging	Het
Tmem171	G	T	13: 98,824,956 (GRCm39)	P225T	probably damaging	Het
Tspan12	A	T	6: 21,835,458 (GRCm39)	C72S	possibly damaging	Het
Txk	T	C	5: 72,853,964 (GRCm39)	T458A	probably benign	Het
Txndc9	A	G	1: 38,026,704 (GRCm39)		probably benign	Het
Uap1	C	A	1: 169,971,000 (GRCm39)	C464F	probably damaging	Het
Ugt2b36	A	T	5: 87,240,087 (GRCm39)	Y99*	probably null	Het
Usp35	T	C	7: 96,975,134 (GRCm39)	Y13C	probably damaging	Het
Vmn1r6	T	G	6: 56,979,789 (GRCm39)	N128K	probably damaging	Het
Vmn2r106	T	A	17: 20,497,788 (GRCm39)	I484L	probably benign	Het
Zdbf2	T	A	1: 63,347,092 (GRCm39)	S1824T	probably benign	Het
Zdhhc4	A	G	5: 143,311,915 (GRCm39)	V19A	probably benign	Het
Zfp955b	C	T	17: 33,524,095 (GRCm39)		probably benign	Het
Zfp97	T	A	17: 17,365,472 (GRCm39)	C324S	probably damaging	Het
Zswim8	G	A	14: 20,766,122 (GRCm39)	D803N	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
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

Predicted Primers

PCR Primer
(F):5'- CAGGAAAGGCATATTCTGGTGC -3'
(R):5'- CCTTAGGGATGTGCAGTGAG -3'

Sequencing Primer
(F):5'- CCCTTTCACTAAGAAGCTGGGAG -3'
(R):5'- AGTGAGCAGGCATCTGTCCTG -3'

Posted On

2016-08-04