Mutagenetix > Incidental Mutation

Incidental Mutation 'R1186:Isyna1'

102132

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

039258-MU

Accession Numbers

Essential gene?

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

Stock #

R1186 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71047131-71049940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 71047851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 115 (N115K)

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 benign
Transcript: ENSMUST00000019283
AA Change: N115K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000019283
Gene: ENSMUSG00000019139
AA Change: N115K

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
AA Change: N115K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209430

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209751

Predicted Effect

probably benign
Transcript: ENSMUST00000210005
AA Change: N115K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000211117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210878

Predicted Effect

probably benign
Transcript: ENSMUST00000210369

Predicted Effect

probably benign
Transcript: ENSMUST00000210580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210305

Predicted Effect

probably benign
Transcript: ENSMUST00000211197

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210382

Predicted Effect

probably benign
Transcript: ENSMUST00000211501

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211488

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211134

Predicted Effect

probably benign
Transcript: ENSMUST00000211608

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210358

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211773

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 95.7%
20x: 90.1%

Validation Efficiency

97% (69/71)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	G	A	10: 21,497,551 (GRCm39)	R64Q	probably benign	Het
9530068E07Rik	G	A	11: 52,293,905 (GRCm39)	V49I	probably benign	Het
A2m	T	C	6: 121,638,493 (GRCm39)	S902P	probably benign	Het
Aatf	A	T	11: 84,361,375 (GRCm39)		probably benign	Het
Adamtsl1	A	G	4: 86,306,746 (GRCm39)	T1395A	probably benign	Het
Alpk2	T	C	18: 65,427,412 (GRCm39)		probably null	Het
Ank3	G	T	10: 69,703,290 (GRCm39)	A308S	probably damaging	Het
Arap1	A	G	7: 101,053,476 (GRCm39)		probably benign	Het
Bltp1	T	C	3: 37,050,461 (GRCm39)		probably benign	Het
C4b	T	C	17: 34,955,283 (GRCm39)	D769G	possibly damaging	Het
Cep350	A	G	1: 155,751,122 (GRCm39)	S2017P	probably damaging	Het
Cfap54	T	A	10: 92,711,856 (GRCm39)	I2704F	unknown	Het
Crip2	G	A	12: 113,108,579 (GRCm39)		probably benign	Het
Cyp4f14	T	C	17: 33,135,760 (GRCm39)	I34V	probably benign	Het
Dcstamp	A	G	15: 39,618,025 (GRCm39)		probably null	Het
Ddx5	T	C	11: 106,674,805 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,406,526 (GRCm39)	L572Q	probably damaging	Het
Espl1	G	A	15: 102,212,474 (GRCm39)	A527T	probably benign	Het
Fam83d	A	G	2: 158,627,094 (GRCm39)	D261G	probably damaging	Het
Fbxo34	T	C	14: 47,768,043 (GRCm39)	F468L	probably damaging	Het
Gabarapl1	A	T	6: 129,510,368 (GRCm39)		probably benign	Het
Galnt17	G	T	5: 131,140,580 (GRCm39)	T179K	probably damaging	Het
Gm6899	C	T	11: 26,543,685 (GRCm39)		probably benign	Het
Helz2	T	A	2: 180,872,921 (GRCm39)	R2433W	probably damaging	Het
Hivep3	T	C	4: 119,671,920 (GRCm39)		probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ica1	A	G	6: 8,672,326 (GRCm39)	L225P	probably damaging	Het
Inpp5f	T	C	7: 128,296,307 (GRCm39)	I195T	probably benign	Het
Ly6g6e	T	C	17: 35,296,984 (GRCm39)	F75S	probably benign	Het
Ly96	A	G	1: 16,771,118 (GRCm39)	D101G	possibly damaging	Het
Mapk9	A	G	11: 49,769,096 (GRCm39)	T243A	probably damaging	Het
Mcc	A	G	18: 44,892,470 (GRCm39)	V48A	probably benign	Het
Mcpt2	C	T	14: 56,281,402 (GRCm39)		probably benign	Het
Med24	T	C	11: 98,608,583 (GRCm39)		probably benign	Het
Mtbp	G	A	15: 55,428,067 (GRCm39)	G162S	probably null	Het
Mtfr2	G	A	10: 20,228,598 (GRCm39)	C48Y	probably benign	Het
Naip2	AGGG	AGG	13: 100,298,545 (GRCm39)		probably null	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Ncoa4-ps	A	C	12: 119,225,206 (GRCm39)		noncoding transcript	Het
Nup107	A	C	10: 117,613,051 (GRCm39)	Y292*	probably null	Het
Nwd2	C	T	5: 63,807,367 (GRCm39)		probably benign	Het
Nxpe4	A	C	9: 48,304,692 (GRCm39)	N260H	probably benign	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Or6z7	T	C	7: 6,483,541 (GRCm39)	I205V	probably benign	Het
Or8b42	T	C	9: 38,342,397 (GRCm39)	V273A	possibly damaging	Het
Or8b47	T	C	9: 38,435,453 (GRCm39)	S142P	probably damaging	Het
Or8k37	A	T	2: 86,469,807 (GRCm39)	L82M	probably damaging	Het
P2rx7	T	C	5: 122,808,514 (GRCm39)	Y299H	probably damaging	Het
Per3	T	A	4: 151,110,595 (GRCm39)	E401V	probably damaging	Het
Rbm34	C	A	8: 127,692,197 (GRCm39)	E182*	probably null	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Senp2	T	C	16: 21,830,254 (GRCm39)	S38P	probably damaging	Het
Slc36a2	A	T	11: 55,055,057 (GRCm39)		probably null	Het
Spred1	A	T	2: 117,008,178 (GRCm39)	R361S	possibly damaging	Het
Spry2	A	G	14: 106,130,341 (GRCm39)	C282R	probably damaging	Het
Srp54b	T	C	12: 55,302,313 (GRCm39)		probably benign	Het
Taar8c	G	C	10: 23,977,463 (GRCm39)	Y116*	probably null	Het
Tchh	C	G	3: 93,355,353 (GRCm39)	R1598G	unknown	Het
Tex15	A	G	8: 34,061,661 (GRCm39)	M364V	probably benign	Het
Ttbk1	T	C	17: 46,778,057 (GRCm39)	R662G	probably damaging	Het
Ttc5	G	A	14: 51,004,683 (GRCm39)	Q374*	probably null	Het
Usp46	C	T	5: 74,162,783 (GRCm39)	A312T	probably benign	Het
Vmn1r176	A	T	7: 23,535,051 (GRCm39)	L34Q	probably damaging	Het
Vmn1r178	A	T	7: 23,593,317 (GRCm39)	R122*	probably null	Het
Vmn2r6	T	A	3: 64,472,488 (GRCm39)	M78L	probably benign	Het
Zfp407	A	T	18: 84,227,573 (GRCm39)	I2012N	probably benign	Het
Zfp980	G	A	4: 145,428,653 (GRCm39)	G461S	probably benign	Het
Zfyve26	G	A	12: 79,310,723 (GRCm39)	L161F	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
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
R0976:Isyna1	UTSW	8	71,048,936 (GRCm39)	missense	probably damaging	1.00
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'- AACTCTTCCTTAGGTGCAGCCCAG -3'
(R):5'- AGGTTCAGCGACGAGATATCCCAG -3'

Sequencing Primer
(F):5'- AATCGGCTGCGCCTAAC -3'
(R):5'- GCTTTGCCCACCATCAAACA -3'

Posted On

2014-01-15