Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02321:Isyna1'

288232

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Isyna1

Ensembl Gene

ENSMUSG00000019139

Gene Name

myo-inositol 1-phosphate synthase A1

Synonyms

1300017C10Rik, inositol-3-phosphate synthase 1, myo-inositol 1-phosphate synthase A1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.383) question?

Stock #

IGL02321

Quality Score

Status

Chromosome

Chromosomal Location

71047131-71049940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71048920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 333 (N333S)

Ref Sequence

ENSEMBL: ENSMUSP00000148077 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019283] [ENSMUST00000049908] [ENSMUST00000093454] [ENSMUST00000209285] [ENSMUST00000210005] [ENSMUST00000211197] [ENSMUST00000210580] [ENSMUST00000211117] [ENSMUST00000210369] [ENSMUST00000211608]

AlphaFold

Q9JHU9

Predicted Effect

probably damaging
Transcript: ENSMUST00000019283
AA Change: N333S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000019283
Gene: ENSMUSG00000019139
AA Change: N333S

Domain	Start	End	E-Value	Type
low complexity region	44	54	N/A	INTRINSIC
Pfam:NAD_binding_5	59	491	4.4e-141	PFAM
Pfam:Inos-1-P_synth	307	420	6.3e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049908

SMART Domains

Protein: ENSMUSP00000059039
Gene: ENSMUSG00000070003

Domain	Start	End	E-Value	Type
LisH	16	48	2.18e-3	SMART
Pfam:SSDP	81	123	6.7e-15	PFAM
Pfam:SSDP	121	338	1.3e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093454

SMART Domains

Protein: ENSMUSP00000091163
Gene: ENSMUSG00000070002

Domain	Start	End	E-Value	Type
Pfam:ELL	6	289	2.2e-107	PFAM
low complexity region	403	416	N/A	INTRINSIC
low complexity region	427	445	N/A	INTRINSIC
low complexity region	447	471	N/A	INTRINSIC
Pfam:Occludin_ELL	494	595	6.4e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209430

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209751

Predicted Effect

probably damaging
Transcript: ENSMUST00000210005
AA Change: N333S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000211197

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210358

Predicted Effect

probably benign
Transcript: ENSMUST00000210580

Predicted Effect

probably benign
Transcript: ENSMUST00000211117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210382

Predicted Effect

probably benign
Transcript: ENSMUST00000211501

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211268

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210305

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211134

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211488

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210878

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210006

Predicted Effect

probably benign
Transcript: ENSMUST00000210369

Predicted Effect

probably benign
Transcript: ENSMUST00000211608

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211773

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an inositol-3-phosphate synthase enzyme. The encoded protein plays a critical role in the myo-inositol biosynthesis pathway by catalyzing the rate-limiting conversion of glucose 6-phosphate to myoinositol 1-phosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 4. [provided by RefSeq, Nov 2011]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf3	C	T	8: 123,506,853 (GRCm39)	R49C	possibly damaging	Het
Alg2	T	C	4: 47,474,249 (GRCm39)	Y13C	probably benign	Het
Apoa4	A	G	9: 46,154,218 (GRCm39)	D273G	probably damaging	Het
Axl	C	T	7: 25,458,194 (GRCm39)	V854I	probably damaging	Het
Bicral	A	G	17: 47,122,873 (GRCm39)	S673P	probably benign	Het
Camkk2	A	G	5: 122,902,190 (GRCm39)	S40P	probably damaging	Het
Ccdc39	A	G	3: 33,871,107 (GRCm39)		probably benign	Het
Ccdc87	A	G	19: 4,891,059 (GRCm39)	E517G	probably damaging	Het
Cd22	A	G	7: 30,569,308 (GRCm39)	S603P	probably damaging	Het
Cdk5rap3	A	T	11: 96,804,291 (GRCm39)	C21S	probably damaging	Het
Chml	G	A	1: 175,519,900 (GRCm39)	P68L	possibly damaging	Het
Cplane1	A	G	15: 8,246,056 (GRCm39)	E1476G	probably benign	Het
Cstdc6	A	G	16: 36,143,388 (GRCm39)		probably benign	Het
Ephb3	T	C	16: 21,033,139 (GRCm39)	V41A	probably damaging	Het
Gm4781	T	A	10: 100,232,752 (GRCm39)		noncoding transcript	Het
Hip1r	A	T	5: 124,137,953 (GRCm39)	I760F	probably damaging	Het
Hyal5	T	C	6: 24,891,614 (GRCm39)	L476P	probably benign	Het
Kcnmb1	A	T	11: 33,920,091 (GRCm39)		probably benign	Het
Mark4	T	C	7: 19,160,314 (GRCm39)	T649A	probably benign	Het
Mgat1	T	C	11: 49,152,536 (GRCm39)	F340L	probably benign	Het
Mical1	G	A	10: 41,362,660 (GRCm39)	E932K	possibly damaging	Het
Mmaa	T	G	8: 80,000,759 (GRCm39)	Y233S	probably damaging	Het
Ntsr1	G	T	2: 180,180,627 (GRCm39)		probably null	Het
Or2o1	T	G	11: 49,051,602 (GRCm39)	Y254D	probably damaging	Het
Orm2	T	C	4: 63,281,229 (GRCm39)	Y56H	probably damaging	Het
Pex26	C	T	6: 121,170,468 (GRCm39)		probably benign	Het
Pik3r4	C	T	9: 105,521,677 (GRCm39)	A81V	probably benign	Het
Pramel32	A	G	4: 88,548,340 (GRCm39)	S22P	probably benign	Het
Prr14l	G	T	5: 32,985,151 (GRCm39)	T1448K	probably benign	Het
Ralgapa2	A	T	2: 146,254,736 (GRCm39)	Y799*	probably null	Het
Ryr1	A	C	7: 28,778,121 (GRCm39)	L2132R	probably damaging	Het
Sec23b	T	C	2: 144,421,325 (GRCm39)		probably null	Het
Sirt5	C	T	13: 43,533,164 (GRCm39)	T164I	probably damaging	Het
Slc9c1	T	C	16: 45,376,977 (GRCm39)	V429A	probably benign	Het
Spen	T	C	4: 141,244,441 (GRCm39)	D198G	unknown	Het
Syne2	A	G	12: 75,965,773 (GRCm39)	N832D	possibly damaging	Het
Traf7	C	A	17: 24,732,020 (GRCm39)	C193F	possibly damaging	Het
Vmn1r191	T	A	13: 22,363,068 (GRCm39)	R229*	probably null	Het
Vps53	C	T	11: 75,939,364 (GRCm39)	D680N	possibly damaging	Het
Wbp1l	G	T	19: 46,642,749 (GRCm39)	G234V	probably benign	Het
Wdfy3	A	T	5: 102,070,475 (GRCm39)	S1098T	probably damaging	Het
Yod1	T	A	1: 130,646,688 (GRCm39)	D188E	probably damaging	Het
Zbtb25	T	C	12: 76,396,907 (GRCm39)	D105G	probably damaging	Het

Other mutations in Isyna1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01363:Isyna1	APN	8	71,047,372 (GRCm39)	missense	probably damaging	0.98
IGL01670:Isyna1	APN	8	71,049,706 (GRCm39)	missense	probably benign	0.00
IGL02003:Isyna1	APN	8	71,049,407 (GRCm39)	missense	possibly damaging	0.94
IGL02649:Isyna1	APN	8	71,048,904 (GRCm39)	missense	probably damaging	1.00
R0629:Isyna1	UTSW	8	71,047,358 (GRCm39)	missense	probably damaging	1.00
R0976:Isyna1	UTSW	8	71,048,936 (GRCm39)	missense	probably damaging	1.00
R1186:Isyna1	UTSW	8	71,047,851 (GRCm39)	missense	probably benign
R4869:Isyna1	UTSW	8	71,049,412 (GRCm39)	missense	possibly damaging	0.80
R4901:Isyna1	UTSW	8	71,049,246 (GRCm39)	missense	probably damaging	1.00
R4941:Isyna1	UTSW	8	71,048,146 (GRCm39)	missense	probably damaging	1.00
R5141:Isyna1	UTSW	8	71,047,543 (GRCm39)	missense	probably damaging	1.00
R5719:Isyna1	UTSW	8	71,047,352 (GRCm39)	missense	probably damaging	1.00
R6500:Isyna1	UTSW	8	71,047,339 (GRCm39)	missense	probably damaging	1.00
R8095:Isyna1	UTSW	8	71,049,035 (GRCm39)	nonsense	probably null
R8957:Isyna1	UTSW	8	71,049,372 (GRCm39)	missense	probably damaging	0.99
R9479:Isyna1	UTSW	8	71,048,193 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16