Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01560:Slc13a4'

90833

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc13a4

Ensembl Gene

ENSMUSG00000029843

Gene Name

solute carrier family 13 (sodium/sulfate symporters), member 4

Synonyms

9630060C05Rik, SUT1, SUT-1

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.747) question?

Stock #

IGL01560

Quality Score

Status

Chromosome

Chromosomal Location

35267957-35308131 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 35271603 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031868 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031868]

Predicted Effect

probably benign
Transcript: ENSMUST00000031868

SMART Domains

Protein: ENSMUSP00000031868
Gene: ENSMUSG00000029843

Domain	Start	End	E-Value	Type
Pfam:Na_sulph_symp	5	609	3.2e-105	PFAM
Pfam:CitMHS	45	166	1.1e-15	PFAM
Pfam:CitMHS	251	531	8.9e-18	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele display lethality before birth, impaired placental sulfate transport, failure of bone ossification, impaired vascular development, hemorrhaging, and cleft palate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931440F15Rik	A	T	11: 29,824,643	Y271*	probably null	Het
Arhgap28	A	T	17: 67,896,071	I129N	probably damaging	Het
Arsb	A	G	13: 93,807,598	I266V	probably benign	Het
Atp6v1b1	A	G	6: 83,749,915		probably benign	Het
Cacna1d	C	T	14: 30,099,206	V1118I	probably benign	Het
Cadps	A	T	14: 12,491,792	V791D	probably damaging	Het
Cdh2	T	C	18: 16,650,438	D78G	probably benign	Het
Flnb	T	G	14: 7,893,829	I714S	probably benign	Het
Fzd1	A	G	5: 4,756,037	M515T	probably benign	Het
Lrpprc	A	T	17: 84,708,119	F1288Y	probably benign	Het
Lrrk2	A	G	15: 91,774,988	I1868V	probably benign	Het
Mmel1	A	G	4: 154,892,510	D561G	probably null	Het
Mypn	A	T	10: 63,134,964	V887E	probably benign	Het
Olfr1223	C	T	2: 89,144,603	C140Y	probably damaging	Het
Olfr414	A	T	1: 174,430,901	M158L	probably benign	Het
Olfr846	T	C	9: 19,360,546	T270A	probably benign	Het
Osbpl5	C	A	7: 143,715,693	E49*	probably null	Het
Prpf8	A	G	11: 75,490,406	Q189R	possibly damaging	Het
Psmg2	G	A	18: 67,653,223	V218I	probably benign	Het
Six6	T	A	12: 72,940,057	M1K	probably null	Het
Slc17a1	T	A	13: 23,874,629	I22N	probably damaging	Het
Thsd7b	C	T	1: 130,218,181		probably benign	Het
Thumpd3	A	G	6: 113,063,159	I335V	possibly damaging	Het
Ttn	T	C	2: 76,771,672	T18549A	possibly damaging	Het
Ugt2b37	G	T	5: 87,251,839	P270Q	probably damaging	Het
Wdfy3	A	T	5: 101,957,486	Y158*	probably null	Het
Zfp282	A	T	6: 47,880,277	E148V	probably damaging	Het

Other mutations in Slc13a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Slc13a4	APN	6	35289824	missense	probably benign	0.01
IGL00975:Slc13a4	APN	6	35274975	missense	probably benign	0.18
IGL01069:Slc13a4	APN	6	35268882	missense	probably damaging	1.00
IGL01319:Slc13a4	APN	6	35307353	splice site	probably null
IGL02125:Slc13a4	APN	6	35278288	missense	probably benign	0.23
IGL02415:Slc13a4	APN	6	35283237	critical splice donor site	probably null
IGL02888:Slc13a4	APN	6	35268840	missense	probably benign	0.10
R0047:Slc13a4	UTSW	6	35287362	missense	possibly damaging	0.84
R0047:Slc13a4	UTSW	6	35287362	missense	possibly damaging	0.84
R0532:Slc13a4	UTSW	6	35287404	splice site	probably null
R0747:Slc13a4	UTSW	6	35278328	missense	probably damaging	1.00
R1391:Slc13a4	UTSW	6	35271662	missense	probably damaging	0.96
R2106:Slc13a4	UTSW	6	35287864	missense	probably damaging	0.99
R2253:Slc13a4	UTSW	6	35280483	missense	probably benign	0.00
R3195:Slc13a4	UTSW	6	35268926	missense	probably damaging	1.00
R3689:Slc13a4	UTSW	6	35268910	missense	possibly damaging	0.87
R3698:Slc13a4	UTSW	6	35274957	missense	probably benign	0.06
R3785:Slc13a4	UTSW	6	35287892	missense	probably damaging	1.00
R3856:Slc13a4	UTSW	6	35271604	splice site	probably null
R5400:Slc13a4	UTSW	6	35301842	nonsense	probably null
R6142:Slc13a4	UTSW	6	35301783	missense	probably damaging	0.99
R6645:Slc13a4	UTSW	6	35268839	missense	probably benign	0.19
R6851:Slc13a4	UTSW	6	35301733	missense	probably damaging	1.00
R7200:Slc13a4	UTSW	6	35287350	missense	possibly damaging	0.56
R7513:Slc13a4	UTSW	6	35283337	intron	probably null
R7590:Slc13a4	UTSW	6	35279463	missense	possibly damaging	0.90
R7673:Slc13a4	UTSW	6	35276476	missense	probably damaging	1.00
R7706:Slc13a4	UTSW	6	35270355	missense	possibly damaging	0.92

Posted On

2013-12-09