Mutagenetix > Incidental Mutations

Incidental Mutation 'R3421:Slc5a4a'

267049

Institutional Source

Beutler Lab

Gene Symbol

Slc5a4a

Ensembl Gene

ENSMUSG00000020229

Gene Name

solute carrier family 5, member 4a

Synonyms

MMRRC Submission

040639-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

R3421 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76147451-76189265 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76176573 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 359 (V359A)

Ref Sequence

ENSEMBL: ENSMUSP00000020450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020450]

Predicted Effect

probably benign
Transcript: ENSMUST00000020450
AA Change: V359A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000020450
Gene: ENSMUSG00000020229
AA Change: V359A

Domain	Start	End	E-Value	Type
transmembrane domain	26	48	N/A	INTRINSIC
Pfam:SSF	58	492	4e-161	PFAM
transmembrane domain	526	548	N/A	INTRINSIC
transmembrane domain	636	655	N/A	INTRINSIC

Meta Mutation Damage Score

0.092

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	A	5: 114,212,636		probably null	Het
Agbl3	A	G	6: 34,793,965	T132A	probably benign	Het
Amn1	A	T	6: 149,169,452	L196*	probably null	Het
Ap3b2	C	T	7: 81,473,850		probably benign	Het
Armc4	T	C	18: 7,223,523		probably benign	Het
Atp7b	C	T	8: 22,028,670	D51N	probably damaging	Het
Brip1	A	T	11: 86,152,669	Y356*	probably null	Het
Ccdc40	C	T	11: 119,234,779	P348L	probably benign	Het
Chrdl2	G	A	7: 100,023,868	C9Y	probably damaging	Het
Chst4	T	C	8: 110,030,406	D192G	probably damaging	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
D930048N14Rik	T	C	11: 51,654,958	*226R	probably null	Het
Dmgdh	T	C	13: 93,711,361	V522A	probably benign	Het
Dtx2	T	A	5: 136,012,478	Y246N	probably damaging	Het
Fam19a1	C	A	6: 96,649,138	D112E	probably damaging	Het
Gtf2ird1	T	A	5: 134,388,500	M518L	probably benign	Het
Hoxc6	T	A	15: 103,010,895	W188R	probably damaging	Het
Igfn1	C	T	1: 135,976,917		probably null	Het
Kcnip1	A	G	11: 33,645,594	V43A	probably damaging	Het
Kif4-ps	A	T	12: 101,146,971	E453V	probably damaging	Het
Kifap3	T	A	1: 163,794,026	I81N	probably damaging	Het
Mgat4d	T	C	8: 83,358,143	S172P	probably damaging	Het
Mr1	T	C	1: 155,137,591	Y80C	probably damaging	Het
Nuak2	A	G	1: 132,332,080	D532G	probably benign	Het
Olfr1230	C	G	2: 89,296,553	S239T	probably benign	Het
Olfr1288	A	G	2: 111,478,952	H56R	probably benign	Het
Olfr20	A	G	11: 73,354,634	N294D	probably damaging	Het
Olfr26	A	G	9: 38,855,325	K88E	possibly damaging	Het
Olfr725	T	C	14: 50,034,540	T288A	possibly damaging	Het
Pik3cg	A	T	12: 32,204,739	F416L	probably damaging	Het
Prex1	A	G	2: 166,617,854	V124A	probably damaging	Het
Psmb2	T	C	4: 126,677,837	M28T	probably damaging	Het
Ric1	T	C	19: 29,567,590	I230T	probably damaging	Het
Saysd1	T	A	14: 20,082,926	K54N	probably benign	Het
Slc25a17	C	T	15: 81,360,700	V11I	probably benign	Het
Slc7a3	T	A	X: 101,080,875		probably benign	Het
Slco1a5	A	T	6: 142,268,238	D52E	possibly damaging	Het
Soat2	T	C	15: 102,156,809		probably benign	Het
Telo2	C	T	17: 25,110,752	R262Q	probably damaging	Het
Zdhhc14	T	A	17: 5,753,091	*490R	probably null	Het
Zfp217	A	G	2: 170,120,017	F130S	possibly damaging	Het
Zfp712	C	T	13: 67,052,392	V10M	probably damaging	Het

Other mutations in Slc5a4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00670:Slc5a4a	APN	10	76163733	missense	probably damaging	1.00
IGL01725:Slc5a4a	APN	10	76181674	missense	probably benign	0.00
IGL02629:Slc5a4a	APN	10	76147579	missense	unknown
IGL02976:Slc5a4a	APN	10	76170693	missense	possibly damaging	0.67
IGL03255:Slc5a4a	APN	10	76150512	missense	probably damaging	1.00
IGL03258:Slc5a4a	APN	10	76150552	missense	possibly damaging	0.81
R0054:Slc5a4a	UTSW	10	76178197	missense	probably null	0.00
R0244:Slc5a4a	UTSW	10	76189152	missense	possibly damaging	0.46
R0398:Slc5a4a	UTSW	10	76182722	missense	possibly damaging	0.46
R0799:Slc5a4a	UTSW	10	76176534	missense	probably benign	0.00
R1160:Slc5a4a	UTSW	10	76178161	missense	possibly damaging	0.52
R1471:Slc5a4a	UTSW	10	76186528	missense	probably damaging	0.99
R1720:Slc5a4a	UTSW	10	76189269	unclassified	probably null
R1857:Slc5a4a	UTSW	10	76166735	missense	probably benign	0.27
R1858:Slc5a4a	UTSW	10	76166735	missense	probably benign	0.27
R1859:Slc5a4a	UTSW	10	76166735	missense	probably benign	0.27
R1942:Slc5a4a	UTSW	10	76147588	missense	unknown
R2016:Slc5a4a	UTSW	10	76153580	missense	probably benign	0.00
R2316:Slc5a4a	UTSW	10	76178081	splice site	probably null
R3420:Slc5a4a	UTSW	10	76176573	missense	probably benign	0.00
R3422:Slc5a4a	UTSW	10	76176573	missense	probably benign	0.00
R3845:Slc5a4a	UTSW	10	76189149	missense	probably damaging	0.99
R3874:Slc5a4a	UTSW	10	76181655	missense	probably benign	0.42
R4523:Slc5a4a	UTSW	10	76148362	missense	probably damaging	0.99
R4537:Slc5a4a	UTSW	10	76178095	nonsense	probably null
R4538:Slc5a4a	UTSW	10	76178095	nonsense	probably null
R4755:Slc5a4a	UTSW	10	76186564	missense	probably benign	0.00
R4868:Slc5a4a	UTSW	10	76178231	missense	probably damaging	0.98
R5135:Slc5a4a	UTSW	10	76147594	missense	unknown
R5254:Slc5a4a	UTSW	10	76182738	nonsense	probably null
R6083:Slc5a4a	UTSW	10	76147597	missense	unknown
R6331:Slc5a4a	UTSW	10	76178200	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CCGGACAAGTGTCTTTCCTC -3'
(R):5'- GTCCATCTCAGGAACATCTGG -3'

Sequencing Primer
(F):5'- AGTGTCTTTCCTCCCACACACAAG -3'
(R):5'- CTCTTGGCAATATGTGAAAGATGCCC -3'

Posted On

2015-02-18