Mutagenetix > Incidental Mutation

Incidental Mutation 'R5400:Slc13a4'

429931

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

042971-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.890) question?

Stock #

R5400 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35267957-35308131 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 35301842 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 37 (C37*)

Ref Sequence

ENSEMBL: ENSMUSP00000031868 (fasta)

Gene Model

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

AlphaFold

Q8BZ82

Predicted Effect

probably null
Transcript: ENSMUST00000031868
AA Change: C37*

SMART Domains

Protein: ENSMUSP00000031868
Gene: ENSMUSG00000029843
AA Change: C37*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122829

Meta Mutation Damage Score

0.9714

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (64/65)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	A	T	5: 9,479,247	N1027Y	probably damaging	Het
Accsl	T	C	2: 93,859,422	D380G	probably damaging	Het
Afm	T	C	5: 90,551,398	L567P	possibly damaging	Het
AI481877	A	G	4: 59,082,432	S399P	possibly damaging	Het
Anks1b	A	T	10: 90,512,824	I785L	probably damaging	Het
Arpc5l	G	A	2: 39,013,735	G79S	probably benign	Het
Arvcf	G	T	16: 18,399,070	R440L	probably benign	Het
Atm	T	C	9: 53,503,018	D924G	probably damaging	Het
Atp8b1	A	T	18: 64,545,989		probably null	Het
Cd19	C	T	7: 126,414,452	G55D	probably benign	Het
Cd34	A	G	1: 194,938,958		probably benign	Het
Cd69	T	A	6: 129,269,991	M88L	probably benign	Het
Ces2h	A	G	8: 105,018,425	E397G	probably benign	Het
Ddx60	T	C	8: 62,010,002	F1306L	possibly damaging	Het
Dennd5b	T	C	6: 149,000,016	E1124G	probably damaging	Het
Dio1	A	T	4: 107,306,988	M44K	probably damaging	Het
En1	A	G	1: 120,603,595	D188G	probably damaging	Het
Epha10	C	T	4: 124,914,121		probably benign	Het
Fam120b	A	T	17: 15,403,126	L455F	possibly damaging	Het
Flt4	AC	ACC	11: 49,651,034		probably null	Het
Gm38394	G	A	1: 133,658,141	T486I	probably damaging	Het
Incenp	A	G	19: 9,877,675		probably null	Het
Kansl3	A	G	1: 36,358,149	V86A	possibly damaging	Het
Klhl7	C	G	5: 24,126,920	F73L	probably damaging	Het
Med28	T	A	5: 45,525,199	V69D	probably damaging	Het
Mknk1	C	A	4: 115,864,552	L98M	probably damaging	Het
Mknk1	T	A	4: 115,864,553	L98Q	probably damaging	Het
Myo3b	T	A	2: 70,105,380	C97S	probably damaging	Het
Neto1	A	G	18: 86,395,908	H9R	possibly damaging	Het
Olfr1230	T	C	2: 89,296,913	D119G	probably damaging	Het
Olfr317	T	C	11: 58,732,320	T282A	possibly damaging	Het
Olfr354	A	T	2: 36,907,821	I292F	probably damaging	Het
Olfr78	G	A	7: 102,742,430	T191I	probably benign	Het
Omd	A	T	13: 49,592,227	E371V	probably benign	Het
Osbpl9	G	T	4: 109,062,300	Y733*	probably null	Het
Pcdh12	A	T	18: 38,268,898	S91R	probably damaging	Het
Pxk	C	A	14: 8,136,911	P144Q	probably benign	Het
Qser1	A	G	2: 104,789,874	S198P	probably damaging	Het
Recql	T	G	6: 142,362,347		probably benign	Het
Reln	T	C	5: 21,979,714	D1601G	probably damaging	Het
Scn10a	T	C	9: 119,609,034	D1922G	probably damaging	Het
Scn11a	T	A	9: 119,769,908	R1185S	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc9a9	T	A	9: 94,712,901	F155I	probably damaging	Het
Spef2	T	A	15: 9,614,281	K1193M	probably damaging	Het
Swt1	T	C	1: 151,412,834	T80A	probably benign	Het
Tmc1	A	G	19: 20,804,602	I584T	probably damaging	Het
Tsc22d1	C	A	14: 76,417,054	F324L	probably benign	Het
Usp19	T	C	9: 108,500,193	V1236A	probably damaging	Het
Vmn2r63	T	C	7: 42,928,211	N301S	probably benign	Het
Wrn	C	T	8: 33,294,917	V476I	probably benign	Het
Zbtb25	C	A	12: 76,349,702	E249*	probably null	Het
Zfp54	C	A	17: 21,433,700	T152K	probably benign	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
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
R7706:Slc13a4	UTSW	6	35270355	missense	possibly damaging	0.92
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'- CCCGTCGCTTGCTTATGAAC -3'
(R):5'- CTTTCACCCACAAAGGATGGCTAC -3'

Sequencing Primer
(F):5'- ATGAACCTCCTGTCCTCTGG -3'
(R):5'- AAGGATGGCTACTATCCTCATTGGC -3'

Posted On

2016-09-06