Mutagenetix > Incidental Mutation

Incidental Mutation 'R0629:Isyna1'

57753

Institutional Source

Beutler Lab

Gene Symbol

Isyna1

Ensembl Gene

ENSMUSG00000019139

Gene Name

myo-inositol 1-phosphate synthase A1

Synonyms

MMRRC Submission

038818-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.315) question?

Stock #

R0629 (G1)

Quality Score

151

Status

Validated

Chromosome

Chromosomal Location

70594373-70597290 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70594708 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 27 (Y27C)

Ref Sequence

ENSEMBL: ENSMUSP00000148077 (fasta)

Gene Model

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

AlphaFold

Q9JHU9

Predicted Effect

probably damaging
Transcript: ENSMUST00000019283
AA Change: Y27C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019283
Gene: ENSMUSG00000019139
AA Change: Y27C

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 damaging
Transcript: ENSMUST00000209285
AA Change: Y27C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209430

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209751

Predicted Effect

probably damaging
Transcript: ENSMUST00000210005
AA Change: Y27C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210305

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210358

Predicted Effect

probably benign
Transcript: ENSMUST00000210369

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211773

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211488

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211134

Predicted Effect

probably benign
Transcript: ENSMUST00000210580

Predicted Effect

probably benign
Transcript: ENSMUST00000211117

Predicted Effect

probably benign
Transcript: ENSMUST00000211501

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210878

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210699

Predicted Effect

probably benign
Transcript: ENSMUST00000211608

Predicted Effect

probably benign
Transcript: ENSMUST00000211197

Meta Mutation Damage Score

0.6491

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

100% (66/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	T	17: 45,507,547	D86V	probably damaging	Het
Adamts14	G	A	10: 61,211,624	Q733*	probably null	Het
Adcy10	A	G	1: 165,543,105	D651G	probably damaging	Het
Apcdd1	T	A	18: 62,933,970	C52S	probably damaging	Het
Bclaf1	T	C	10: 20,333,426	S463P	probably damaging	Het
Cabcoco1	T	C	10: 68,516,278	Y68C	probably damaging	Het
Cacna1f	G	A	X: 7,620,434	S888N	probably damaging	Het
Cacna1g	A	G	11: 94,409,543	C2134R	possibly damaging	Het
Cdc37	A	C	9: 21,140,768	M325R	possibly damaging	Het
Clca2	T	A	3: 145,072,239	M762L	probably benign	Het
Cntn3	C	T	6: 102,203,976	V753M	probably damaging	Het
Col6a6	A	T	9: 105,727,165		probably benign	Het
Dscaml1	A	G	9: 45,721,418	D1194G	probably damaging	Het
Egfr	G	A	11: 16,869,333	G288S	probably damaging	Het
Fbxl17	G	T	17: 63,471,414	N19K	probably damaging	Het
Fmo3	A	G	1: 162,958,227		probably benign	Het
Frmd6	T	C	12: 70,883,762	Y219H	probably damaging	Het
Fuca1	T	C	4: 135,925,644	V193A	possibly damaging	Het
Gm1141	G	C	X: 71,938,773	R296P	possibly damaging	Het
Gm7461	C	T	8: 4,677,769		noncoding transcript	Het
Gpc5	T	A	14: 115,552,239	N508K	possibly damaging	Het
Iqch	A	T	9: 63,425,382	D1019E	probably benign	Het
Itgb8	T	G	12: 119,202,481	H105P	probably benign	Het
Kbtbd11	C	T	8: 15,027,572	P57L	probably benign	Het
Kcns3	A	C	12: 11,092,558	C47G	probably damaging	Het
Kif21b	A	T	1: 136,172,157		probably null	Het
Lama3	A	T	18: 12,419,245	H418L	possibly damaging	Het
Lrit3	A	G	3: 129,788,302	Y679H	probably damaging	Het
Lrrc19	T	A	4: 94,638,252	D356V	probably damaging	Het
Morc2b	A	G	17: 33,135,807	M997T	probably benign	Het
Mroh9	T	C	1: 163,060,636	H290R	possibly damaging	Het
Mtcl1	A	T	17: 66,338,142	S1886T	possibly damaging	Het
Muc20	T	C	16: 32,793,421	T529A	possibly damaging	Het
Myo7a	A	C	7: 98,085,466	L607R	probably damaging	Het
Myom2	T	A	8: 15,069,783	F180I	probably damaging	Het
Myt1l	G	A	12: 29,811,485	E89K	unknown	Het
Nek2	A	G	1: 191,831,317	N431S	probably benign	Het
Olfr1086	T	A	2: 86,676,529	H268L	possibly damaging	Het
Olfr169	A	T	16: 19,565,980	V301E	possibly damaging	Het
Oprm1	A	T	10: 6,832,604		probably null	Het
Oxsr1	A	G	9: 119,241,784		probably benign	Het
Pdgfrb	G	A	18: 61,078,648		probably null	Het
Proser1	C	A	3: 53,479,064	P789Q	probably benign	Het
Ptgs2	A	G	1: 150,101,037	Q7R	probably benign	Het
Rab3d	A	G	9: 21,914,686	V144A	probably benign	Het
Ralgapb	T	A	2: 158,439,547	L167H	probably damaging	Het
Ranbp3	A	G	17: 56,708,200	T301A	possibly damaging	Het
Rasgrf1	G	A	9: 89,984,269	V587M	probably damaging	Het
Sec16b	A	G	1: 157,564,863		probably benign	Het
Sin3b	T	C	8: 72,753,536		probably benign	Het
Slc10a2	T	C	8: 5,098,562	S128G	probably benign	Het
Tbl1xr1	G	A	3: 22,210,401	V507I	probably benign	Het
Tmem8b	T	G	4: 43,669,896		probably null	Het
Trak1	A	T	9: 121,367,167	T22S	probably benign	Het
Trim30d	A	G	7: 104,487,655	I114T	probably damaging	Het
Ttc13	A	T	8: 124,674,366	S624T	probably damaging	Het
Ttn	T	C	2: 76,828,130		probably benign	Het
Vipr1	T	A	9: 121,660,171	Y99*	probably null	Het
Vmn1r210	T	C	13: 22,827,874	K81E	probably damaging	Het
Wwc1	T	C	11: 35,853,472	Y841C	probably benign	Het
Xrcc4	A	G	13: 90,000,905		probably benign	Het
Zdhhc22	A	T	12: 86,988,297	I127N	probably damaging	Het
Zdhhc7	A	G	8: 120,088,046	L8P	possibly damaging	Het
Zfp664	C	A	5: 124,885,595	L18I	probably damaging	Het

Other mutations in Isyna1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01363:Isyna1	APN	8	70594722	missense	probably damaging	0.98
IGL01670:Isyna1	APN	8	70597056	missense	probably benign	0.00
IGL02003:Isyna1	APN	8	70596757	missense	possibly damaging	0.94
IGL02321:Isyna1	APN	8	70596270	missense	probably damaging	1.00
IGL02649:Isyna1	APN	8	70596254	missense	probably damaging	1.00
R0976:Isyna1	UTSW	8	70596286	missense	probably damaging	1.00
R1186:Isyna1	UTSW	8	70595201	missense	probably benign
R4869:Isyna1	UTSW	8	70596762	missense	possibly damaging	0.80
R4901:Isyna1	UTSW	8	70596596	missense	probably damaging	1.00
R4941:Isyna1	UTSW	8	70595496	missense	probably damaging	1.00
R5141:Isyna1	UTSW	8	70594893	missense	probably damaging	1.00
R5719:Isyna1	UTSW	8	70594702	missense	probably damaging	1.00
R6500:Isyna1	UTSW	8	70594689	missense	probably damaging	1.00
R8095:Isyna1	UTSW	8	70596385	nonsense	probably null
R8957:Isyna1	UTSW	8	70596722	missense	probably damaging	0.99
R9479:Isyna1	UTSW	8	70595543	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACTCTGGGCCGGTAAGTACGAAC -3'
(R):5'- TGAGACGCGCTAGTCCAACAAG -3'

Sequencing Primer
(F):5'- GGCCGGTAAGTACGAACCTATC -3'
(R):5'- GTATTCTCCTAGTAGCCACGG -3'

Posted On

2013-07-11