Mutagenetix > Incidental Mutation

Incidental Mutation 'R8095:Isyna1'

630149

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

067527-MU

Accession Numbers

Essential gene?

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

Stock #

R8095 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71047131-71049940 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 71049035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 371 (Y371*)

Ref Sequence

ENSEMBL: ENSMUSP00000019283 (fasta)

Gene Model

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

AlphaFold

Q9JHU9

Predicted Effect

probably null
Transcript: ENSMUST00000019283
AA Change: Y371*

SMART Domains

Protein: ENSMUSP00000019283
Gene: ENSMUSG00000019139
AA Change: Y371*

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

probably null
Transcript: ENSMUST00000210005
AA Change: Y371*

Predicted Effect

probably benign
Transcript: ENSMUST00000210369

Predicted Effect

probably benign
Transcript: ENSMUST00000210580

Predicted Effect

probably benign
Transcript: ENSMUST00000211117

Predicted Effect

probably benign
Transcript: ENSMUST00000211197

Predicted Effect

probably benign
Transcript: ENSMUST00000211501

Predicted Effect

probably benign
Transcript: ENSMUST00000211608

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.1%
20x: 97.6%

Validation Efficiency

100% (49/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,536,196 (GRCm39)	I490M	possibly damaging	Het
Abcc9	T	C	6: 142,590,048 (GRCm39)	I817V	probably benign	Het
Atp11b	T	C	3: 35,888,565 (GRCm39)	L945P	probably damaging	Het
Coa8	C	A	12: 111,689,218 (GRCm39)	A100D	probably damaging	Het
Crem	T	C	18: 3,295,106 (GRCm39)	T108A	probably benign	Het
Cttnbp2	T	A	6: 18,435,432 (GRCm39)	K142M	probably damaging	Het
Cyp51	C	T	5: 4,136,490 (GRCm39)	E435K	probably benign	Het
Dnah14	G	T	1: 181,633,597 (GRCm39)	E11*	probably null	Het
Dpy19l1	T	C	9: 24,396,160 (GRCm39)		probably null	Het
Dym	A	G	18: 75,247,872 (GRCm39)	T259A	possibly damaging	Het
E030018B13Rik	T	G	7: 63,569,049 (GRCm39)	H32Q	unknown	Het
Ehmt2	T	G	17: 35,126,745 (GRCm39)	H809Q	probably damaging	Het
Fabp6	G	A	11: 43,489,543 (GRCm39)	R33C	probably damaging	Het
Fam98a	C	A	17: 75,845,766 (GRCm39)	D327Y	probably damaging	Het
Foxf1	C	T	8: 121,813,551 (GRCm39)	T357I	probably benign	Het
Foxh1	T	A	15: 76,553,208 (GRCm39)	R169*	probably null	Het
Hydin	T	C	8: 111,295,991 (GRCm39)	F3568S	probably damaging	Het
Il22	T	C	10: 118,041,028 (GRCm39)	S45P	possibly damaging	Het
Lingo3	T	C	10: 80,671,255 (GRCm39)	H225R	probably benign	Het
Lmo7	T	A	14: 102,124,855 (GRCm39)	V560E	possibly damaging	Het
Mab21l2	A	G	3: 86,454,769 (GRCm39)	V77A	probably benign	Het
Mapkbp1	A	G	2: 119,848,131 (GRCm39)	K595R	probably benign	Het
Mfsd2a	A	T	4: 122,845,064 (GRCm39)	C216S	probably damaging	Het
Muc16	A	T	9: 18,496,126 (GRCm39)	Y6688*	probably null	Het
Or12j5	T	C	7: 140,084,192 (GRCm39)	Y60C	probably damaging	Het
Otud6b	T	C	4: 14,825,614 (GRCm39)	D72G	probably damaging	Het
Pcdhgb6	A	G	18: 37,875,924 (GRCm39)	I211V	probably benign	Het
Ryr3	A	G	2: 112,498,388 (GRCm39)		probably null	Het
Sardh	T	C	2: 27,132,730 (GRCm39)	Y166C	probably damaging	Het
Scn1a	T	A	2: 66,132,809 (GRCm39)	K171N	possibly damaging	Het
Scyl2	G	T	10: 89,476,965 (GRCm39)	T720K	probably damaging	Het
Slc9a8	T	A	2: 167,310,891 (GRCm39)	V384D	probably damaging	Het
Slco1a8	T	A	6: 141,933,415 (GRCm39)	I457F	probably benign	Het
Smg1	T	C	7: 117,772,285 (GRCm39)	Y1490C	unknown	Het
Snx16	A	T	3: 10,503,244 (GRCm39)	M1K	probably null	Het
Sqle	A	G	15: 59,193,276 (GRCm39)	S218G	probably benign	Het
Strip1	A	G	3: 107,525,455 (GRCm39)	I527T	possibly damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tnfsf13	A	G	11: 69,575,983 (GRCm39)	C35R	probably damaging	Het
Trf	T	C	9: 103,087,735 (GRCm39)	Y673C	probably damaging	Het
Ttc39b	C	T	4: 83,164,557 (GRCm39)	A252T	probably benign	Het
Tubgcp6	A	T	15: 89,006,977 (GRCm39)	L15H	probably benign	Het
Uspl1	C	T	5: 149,150,992 (GRCm39)	Q731*	probably null	Het
Vmn1r193	T	C	13: 22,403,231 (GRCm39)	R254G	possibly damaging	Het
Vrtn	C	T	12: 84,696,809 (GRCm39)	R520C	probably damaging	Het
Wipf1	G	A	2: 73,267,879 (GRCm39)	P173L	possibly damaging	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zfp644	A	C	5: 106,766,280 (GRCm39)	V1234G	possibly 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
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
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'- AGGGTACTGCAGAGCATTCAC -3'
(R):5'- TCGCAGGTATTATGGAGCAC -3'

Sequencing Primer
(F):5'- GCAGAGCATTCACCGTCTC -3'
(R):5'- AGCACCAAGGTGTTTGTCC -3'

Posted On

2020-06-30