Mutagenetix > Incidental Mutation

Incidental Mutation 'R0976:Isyna1'

81168

Institutional Source

Beutler Lab

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

MMRRC Submission

039105-MU

Accession Numbers

Essential gene?

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

Stock #

R0976 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71047131-71049940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 71048936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 338 (N338K)

Ref Sequence

ENSEMBL: ENSMUSP00000148077 (fasta)

Gene Model

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

AlphaFold

Q9JHU9

Predicted Effect

probably damaging
Transcript: ENSMUST00000019283
AA Change: N338K

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

SMART Domains

Protein: ENSMUSP00000019283
Gene: ENSMUSG00000019139
AA Change: N338K

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: N338K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211134

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211268

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210358

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211488

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210305

Predicted Effect

probably benign
Transcript: ENSMUST00000211117

Predicted Effect

probably benign
Transcript: ENSMUST00000210369

Predicted Effect

probably benign
Transcript: ENSMUST00000210580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210382

Predicted Effect

probably benign
Transcript: ENSMUST00000211501

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210878

Predicted Effect

probably benign
Transcript: ENSMUST00000211197

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211773

Predicted Effect

probably benign
Transcript: ENSMUST00000211608

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 97.6%
20x: 95.2%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 183,765,702 (GRCm39)	S119N	probably benign	Het
Arap2	T	A	5: 62,807,227 (GRCm39)	I1147F	probably damaging	Het
Arl10	T	C	13: 54,723,621 (GRCm39)		probably benign	Het
Axin1	A	G	17: 26,407,060 (GRCm39)	E551G	probably damaging	Het
Ccr6	T	A	17: 8,475,254 (GRCm39)	L153Q	probably damaging	Het
Cntnap2	C	T	6: 47,248,164 (GRCm39)	P1190L	probably damaging	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Cux1	T	A	5: 136,342,144 (GRCm39)	D416V	probably damaging	Het
Cyp2c67	G	T	19: 39,631,818 (GRCm39)	F126L	probably damaging	Het
Cyp3a57	A	G	5: 145,327,278 (GRCm39)	I490V	probably benign	Het
Dsc1	T	C	18: 20,228,098 (GRCm39)		probably null	Het
Fam83f	T	A	15: 80,576,285 (GRCm39)	V312E	probably damaging	Het
Fsip2	A	G	2: 82,828,375 (GRCm39)	D6724G	possibly damaging	Het
Gabrr3	G	T	16: 59,281,887 (GRCm39)	C414F	probably benign	Het
Gm21738	T	C	14: 19,415,963 (GRCm38)	K192R	probably benign	Het
H2bc18	T	A	3: 96,177,402 (GRCm39)	V112E	probably benign	Het
Herc1	A	T	9: 66,347,160 (GRCm39)	K2005M	possibly damaging	Het
Kalrn	T	C	16: 34,205,760 (GRCm39)	D39G	probably damaging	Het
Mndal	T	A	1: 173,690,411 (GRCm39)	R306S	possibly damaging	Het
Nek2	A	G	1: 191,559,349 (GRCm39)	R285G	probably benign	Het
Nrg2	A	G	18: 36,154,144 (GRCm39)	I591T	probably benign	Het
Or8u8	A	G	2: 86,012,152 (GRCm39)	L101S	probably damaging	Het
Pcdh10	T	C	3: 45,335,236 (GRCm39)	S517P	probably damaging	Het
Pdcd2l	G	T	7: 33,895,771 (GRCm39)	D67E	probably benign	Het
Pex1	C	A	5: 3,683,943 (GRCm39)	D1146E	probably benign	Het
Pid1	A	T	1: 84,136,946 (GRCm39)	Y62N	probably benign	Het
Ppp4r1	T	C	17: 66,148,013 (GRCm39)	*935R	probably null	Het
Stag1	T	C	9: 100,658,877 (GRCm39)	F155L	probably damaging	Het
Stag1	G	A	9: 100,812,069 (GRCm39)		probably null	Het
Taok2	C	T	7: 126,474,323 (GRCm39)	R302Q	possibly damaging	Het
Tbc1d8	A	G	1: 39,445,882 (GRCm39)	V103A	probably damaging	Het
Terf2ip	T	A	8: 112,738,349 (GRCm39)	I79N	probably damaging	Het
Tgfb3	G	A	12: 86,116,606 (GRCm39)	T144I	probably damaging	Het
Top1	A	G	2: 160,559,343 (GRCm39)	N622S	possibly damaging	Het
Trappc9	T	A	15: 72,871,823 (GRCm39)	Q489L	probably damaging	Het
Vmn2r69	T	C	7: 85,056,108 (GRCm39)	T677A	probably damaging	Het
Wdr35	T	C	12: 9,036,104 (GRCm39)	F292L	probably benign	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
IGL02321:Isyna1	APN	8	71,048,920 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GGTGATGACTTCAAGTCAGGGCAG -3'
(R):5'- CGCAGGTATTATGGAGCACCAAGG -3'

Sequencing Primer
(F):5'- AGACTAAGGTCAAGTCTGTCCTG -3'
(R):5'- TTGCTGTCGCCAACATAGG -3'

Posted On

2013-11-07