Mutagenetix > Incidental Mutation

Incidental Mutation 'R7706:Slc13a4'

594275

Institutional Source

Beutler Lab

Gene Symbol

Slc13a4

Ensembl Gene

ENSMUSG00000029843

Gene Name

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

Synonyms

9630060C05Rik, SUT1, SUT-1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.840) question?

Stock #

R7706 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35267957-35308131 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35270355 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 577 (I577V)

Ref Sequence

ENSEMBL: ENSMUSP00000031868 (fasta)

Gene Model

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

AlphaFold

Q8BZ82

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031868
AA Change: I577V

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031868
Gene: ENSMUSG00000029843
AA Change: I577V

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

Meta Mutation Damage Score

0.0786

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (52/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C23Rik	G	A	17: 45,733,657	T46I	unknown	Het
Arhgef1	G	A	7: 24,916,881	D317N	probably damaging	Het
Atxn7l2	T	C	3: 108,207,403	D109G	probably damaging	Het
B4galnt3	C	A	6: 120,218,952	V305L	probably benign	Het
C9	T	A	15: 6,458,921	N85K	probably benign	Het
Cacna1g	T	C	11: 94,415,041	I1941V	probably benign	Het
Capn15	A	G	17: 25,964,151	V518A	probably benign	Het
Chst10	A	T	1: 38,866,025	Y200N	probably damaging	Het
Cir1	A	G	2: 73,312,479	S4P	probably damaging	Het
Cish	G	A	9: 107,300,641	R172Q	probably benign	Het
Cnot10	A	T	9: 114,593,438	N693K	probably damaging	Het
Ddx6	A	G	9: 44,627,642	D249G	probably damaging	Het
Dennd6b	T	C	15: 89,185,244	D528G	probably benign	Het
Dmtf1	T	A	5: 9,124,489	T484S	possibly damaging	Het
Dnaaf5	T	C	5: 139,152,841	V259A	probably damaging	Het
Dzip1l	A	T	9: 99,637,536	S39C	probably damaging	Het
Efcab8	T	A	2: 153,781,775	M60K		Het
Eml2	T	A	7: 19,186,110	V113D	possibly damaging	Het
Fnip1	A	T	11: 54,515,499	I1141F	probably benign	Het
Gm7298	T	A	6: 121,735,611	S127R	probably damaging	Het
Hcn2	G	A	10: 79,734,183	R622Q	possibly damaging	Het
Ift172	C	T	5: 31,266,379	W746*	probably null	Het
Irs1	A	G	1: 82,287,691	Y935H	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,436,913		probably benign	Het
Klhl20	T	C	1: 161,109,257	I183V	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lalba	T	C	15: 98,481,593	D103G	probably damaging	Het
Lpin3	T	C	2: 160,905,290	L822P	probably damaging	Het
Lrrc38	G	A	4: 143,350,275	C36Y	probably damaging	Het
Ly6e	T	C	15: 74,958,334	S46P	possibly damaging	Het
Narfl	T	C	17: 25,782,252	*493Q	probably null	Het
Nav2	T	C	7: 49,594,319	I2098T	probably benign	Het
Nipbl	T	C	15: 8,351,526	E594G	probably benign	Het
Olfr552	T	A	7: 102,604,646	H97Q	probably benign	Het
Parn	T	C	16: 13,607,253	D432G	probably damaging	Het
Pcdh20	A	G	14: 88,467,357	S836P	probably damaging	Het
Pcmtd2	C	T	2: 181,855,075	R282C	probably damaging	Het
Ppp2r3c	A	G	12: 55,281,705	I425T	probably benign	Het
Samm50	T	A	15: 84,200,880		probably null	Het
Sars	C	T	3: 108,431,464		probably null	Het
Senp8	A	G	9: 59,737,838	Y12H	possibly damaging	Het
Srr	T	G	11: 74,913,135		probably null	Het
Steap2	T	A	5: 5,682,967	N19I	possibly damaging	Het
Sucla2	A	G	14: 73,568,993	Y168C	probably damaging	Het
Tha1	T	C	11: 117,869,455	Q275R	probably damaging	Het
Trim56	T	C	5: 137,114,656	N2S	probably benign	Het
Tubgcp6	T	A	15: 89,104,223	H849L	probably benign	Het
Uevld	A	G	7: 46,948,027	I72T	possibly damaging	Het
Ybx1	A	G	4: 119,278,967	*323Q	probably null	Het
Zfp354b	C	T	11: 50,928,563		probably null	Het
Zfp36l2	A	T	17: 84,186,918	L97Q	probably benign	Het
Zfp729a	T	A	13: 67,623,493	R78S	possibly 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
IGL01560:Slc13a4	APN	6	35271603	splice site	probably benign
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	splice site	probably null
R7590:Slc13a4	UTSW	6	35279463	missense	possibly damaging	0.90
R7673:Slc13a4	UTSW	6	35276476	missense	probably damaging	1.00
R7971:Slc13a4	UTSW	6	35271760	missense	probably damaging	1.00
R8056:Slc13a4	UTSW	6	35268952	missense	probably damaging	1.00
R8428:Slc13a4	UTSW	6	35268879	missense	probably benign	0.21
R8486:Slc13a4	UTSW	6	35270369	missense	probably damaging	1.00
R8767:Slc13a4	UTSW	6	35268848	missense	probably benign	0.21
R8795:Slc13a4	UTSW	6	35283295	missense	probably benign	0.01
R9145:Slc13a4	UTSW	6	35270355	missense	possibly damaging	0.92
R9431:Slc13a4	UTSW	6	35301807	missense	probably damaging	1.00
Z1176:Slc13a4	UTSW	6	35278292	missense	probably damaging	0.96
Z1177:Slc13a4	UTSW	6	35289849	missense	possibly damaging	0.75
Z1177:Slc13a4	UTSW	6	35289850	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCCCGATGAGAGTTAGGGAG -3'
(R):5'- CATTCACGCACAGGAAATGC -3'

Sequencing Primer
(F):5'- GCCCATTGCTGTTCCTGGAG -3'
(R):5'- AATGCCCACCTAGTCTCAGTTAATG -3'

Posted On

2019-11-12