Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03329:Slc5a3'

416782

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc5a3

Ensembl Gene

ENSMUSG00000089774

Gene Name

solute carrier family 5 (inositol transporters), member 3

Synonyms

Smit1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03329

Quality Score

Status

Chromosome

Chromosomal Location

91855210-91884361 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91874348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 135 (I135T)

Ref Sequence

ENSEMBL: ENSMUSP00000109608 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047429] [ENSMUST00000113975] [ENSMUST00000131098] [ENSMUST00000232677]

AlphaFold

Q9JKZ2

Predicted Effect

probably benign
Transcript: ENSMUST00000047429

SMART Domains

Protein: ENSMUSP00000037631
Gene: ENSMUSG00000039680

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S6	3	95	7.2e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113975
AA Change: I135T

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

SMART Domains

Protein: ENSMUSP00000109608
Gene: ENSMUSG00000089774
AA Change: I135T

Domain	Start	End	E-Value	Type
Pfam:SSF	39	477	1.3e-163	PFAM
transmembrane domain	511	533	N/A	INTRINSIC
low complexity region	665	675	N/A	INTRINSIC
transmembrane domain	696	715	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131098

SMART Domains

Protein: ENSMUSP00000139098
Gene: ENSMUSG00000089774

Domain	Start	End	E-Value	Type
Pfam:SSF	1	142	3.4e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232222

Predicted Effect

probably benign
Transcript: ENSMUST00000232677

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in lethality shortly after birth due to respiratory failure and abnormal development of peripheral nerves. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,248,047 (GRCm39)	D2598G	probably benign	Het
Abcf2	T	G	5: 24,776,246 (GRCm39)		probably null	Het
Acsl1	T	A	8: 46,946,031 (GRCm39)	C55S	possibly damaging	Het
Adam22	T	A	5: 8,199,210 (GRCm39)	M249L	possibly damaging	Het
Alk	A	G	17: 72,206,159 (GRCm39)		probably benign	Het
Ambn	T	G	5: 88,609,527 (GRCm39)	S78R	probably benign	Het
Apbb1ip	T	A	2: 22,757,729 (GRCm39)	V449D	possibly damaging	Het
Atp13a5	A	T	16: 29,152,883 (GRCm39)	Y194*	probably null	Het
Cacul1	A	T	19: 60,531,489 (GRCm39)	F260Y	probably damaging	Het
Cfap46	A	G	7: 139,181,081 (GRCm39)	I2640T	probably damaging	Het
Chd7	T	C	4: 8,841,108 (GRCm39)	S1446P	probably damaging	Het
Cimap2	G	T	4: 106,464,601 (GRCm39)	R353S	possibly damaging	Het
Clcn2	G	A	16: 20,530,902 (GRCm39)	T276I	probably damaging	Het
Dcbld1	T	G	10: 52,195,721 (GRCm39)	Y310D	probably damaging	Het
Dennd4c	G	A	4: 86,696,113 (GRCm39)	V157I	probably damaging	Het
Dennd5b	G	T	6: 148,899,758 (GRCm39)	T1213K	possibly damaging	Het
Dusp8	A	T	7: 141,638,097 (GRCm39)	L177*	probably null	Het
Erbb4	T	C	1: 68,367,281 (GRCm39)	S479G	probably benign	Het
Gpbp1	T	A	13: 111,589,787 (GRCm39)		probably benign	Het
Hmcn1	T	A	1: 150,608,661 (GRCm39)	Q1507L	probably damaging	Het
Inppl1	G	T	7: 101,473,587 (GRCm39)	T1021K	possibly damaging	Het
Klk1b9	A	G	7: 43,628,838 (GRCm39)	E114G	probably benign	Het
Klre1	T	C	6: 129,562,660 (GRCm39)		probably benign	Het
Lancl1	T	C	1: 67,060,209 (GRCm39)	Y72C	probably damaging	Het
Lilra6	A	G	7: 3,917,647 (GRCm39)		probably benign	Het
Magi2	T	C	5: 20,671,126 (GRCm39)	V490A	possibly damaging	Het
Myo3b	T	A	2: 70,084,803 (GRCm39)	N720K	probably damaging	Het
Or2ah1	A	C	2: 85,653,729 (GRCm39)	D138A	probably benign	Het
Or7e166	T	C	9: 19,624,597 (GRCm39)	V158A	probably benign	Het
Ppp2r3d	T	A	9: 101,003,630 (GRCm39)		probably benign	Het
Rbm47	T	C	5: 66,184,036 (GRCm39)	D189G	probably damaging	Het
Scn2a	G	A	2: 65,594,973 (GRCm39)	D1941N	probably benign	Het
Sgpp2	T	C	1: 78,367,200 (GRCm39)	I111T	probably benign	Het
Sh3bp2	T	C	5: 34,716,546 (GRCm39)	V319A	probably benign	Het
Slc12a3	A	C	8: 95,092,519 (GRCm39)	Q980P	possibly damaging	Het
Slc39a8	G	T	3: 135,590,474 (GRCm39)	G389V	probably damaging	Het
Smu1	A	G	4: 40,739,568 (GRCm39)	V414A	possibly damaging	Het
Tlr12	A	G	4: 128,510,645 (GRCm39)	F535S	possibly damaging	Het
Trim47	A	G	11: 115,997,254 (GRCm39)	V501A	probably damaging	Het
Vmn1r16	A	T	6: 57,300,603 (GRCm39)	N6K	probably damaging	Het
Vwce	G	A	19: 10,637,360 (GRCm39)	C711Y	possibly damaging	Het
Wdr25	C	T	12: 108,864,262 (GRCm39)	L136F	probably benign	Het
Xpo1	A	G	11: 23,234,306 (GRCm39)	Q437R	probably benign	Het
Zfp169	C	A	13: 48,644,270 (GRCm39)		probably benign	Het
Zfp607b	A	T	7: 27,403,295 (GRCm39)	I584F	probably damaging	Het
Zzef1	T	A	11: 72,808,099 (GRCm39)		probably benign	Het

Other mutations in Slc5a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:Slc5a3	APN	16	91,874,519 (GRCm39)	missense	probably damaging	1.00
IGL01100:Slc5a3	APN	16	91,876,110 (GRCm39)	intron	probably benign
IGL01374:Slc5a3	APN	16	91,874,006 (GRCm39)	missense	probably benign	0.03
IGL01566:Slc5a3	APN	16	91,874,465 (GRCm39)	missense	probably damaging	0.99
IGL01615:Slc5a3	APN	16	91,876,000 (GRCm39)	nonsense	probably null
IGL02489:Slc5a3	APN	16	91,874,593 (GRCm39)	missense	possibly damaging	0.78
PIT4449001:Slc5a3	UTSW	16	91,874,702 (GRCm39)	missense	probably benign
R0054:Slc5a3	UTSW	16	91,874,522 (GRCm39)	missense	probably damaging	1.00
R0054:Slc5a3	UTSW	16	91,874,522 (GRCm39)	missense	probably damaging	1.00
R0166:Slc5a3	UTSW	16	91,874,581 (GRCm39)	missense	possibly damaging	0.73
R1022:Slc5a3	UTSW	16	91,874,383 (GRCm39)	missense	probably damaging	1.00
R1024:Slc5a3	UTSW	16	91,874,383 (GRCm39)	missense	probably damaging	1.00
R1102:Slc5a3	UTSW	16	91,874,765 (GRCm39)	missense	probably damaging	1.00
R1635:Slc5a3	UTSW	16	91,874,284 (GRCm39)	missense	possibly damaging	0.89
R1777:Slc5a3	UTSW	16	91,874,644 (GRCm39)	missense	probably benign	0.00
R1955:Slc5a3	UTSW	16	91,874,762 (GRCm39)	missense	possibly damaging	0.46
R2068:Slc5a3	UTSW	16	91,874,128 (GRCm39)	missense	probably damaging	1.00
R3787:Slc5a3	UTSW	16	91,874,816 (GRCm39)	missense	possibly damaging	0.82
R4152:Slc5a3	UTSW	16	91,874,696 (GRCm39)	nonsense	probably null
R4651:Slc5a3	UTSW	16	91,874,090 (GRCm39)	missense	probably benign	0.26
R4944:Slc5a3	UTSW	16	91,875,571 (GRCm39)	missense	possibly damaging	0.67
R5008:Slc5a3	UTSW	16	91,874,169 (GRCm39)	missense	probably damaging	0.96
R6058:Slc5a3	UTSW	16	91,875,963 (GRCm39)	missense	probably benign	0.00
R7459:Slc5a3	UTSW	16	91,875,905 (GRCm39)	missense	probably benign
R7544:Slc5a3	UTSW	16	91,874,682 (GRCm39)	missense	probably benign	0.00
R7843:Slc5a3	UTSW	16	91,875,907 (GRCm39)	missense	probably benign
R9432:Slc5a3	UTSW	16	91,874,615 (GRCm39)	missense	probably benign	0.00
R9501:Slc5a3	UTSW	16	91,875,257 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02