Mutagenetix > Incidental Mutation

Incidental Mutation 'R3422:Slc5a4a'

267086

Institutional Source

Beutler Lab

Gene Symbol

Slc5a4a

Ensembl Gene

ENSMUSG00000020229

Gene Name

solute carrier family 5, member 4a

Synonyms

MMRRC Submission

040640-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R3422 (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 (GRCm38)

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]

AlphaFold

no structure available at present

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

0.1135

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl3	A	G	6: 34,793,965	T132A	probably benign	Het
Ahnak	A	G	19: 9,005,708	D1452G	probably benign	Het
Ahnak	A	G	19: 9,006,752	D1800G	probably benign	Het
Armc4	T	C	18: 7,223,523		probably benign	Het
Atp7b	C	T	8: 22,028,670	D51N	probably damaging	Het
Brca2	A	G	5: 150,543,121	T2117A	possibly damaging	Het
Ccdc73	A	T	2: 104,951,947	K216M	probably null	Het
Ccdc73	G	A	2: 104,951,948		probably null	Het
Ckap5	T	A	2: 91,570,252	W650R	probably damaging	Het
D930048N14Rik	T	C	11: 51,654,958	*226R	probably null	Het
Fam19a1	C	A	6: 96,649,138	D112E	probably damaging	Het
Grin1	C	T	2: 25,303,914	G390D	probably damaging	Het
Ifit1bl1	T	G	19: 34,593,950	N369T	probably benign	Het
Kcnip1	A	G	11: 33,645,594	V43A	probably damaging	Het
Kifap3	T	A	1: 163,794,026	I81N	probably damaging	Het
Me2	C	T	18: 73,791,194	A316T	probably damaging	Het
Mgat4d	T	C	8: 83,358,143	S172P	probably damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Nmt2	A	G	2: 3,284,388	E31G	possibly damaging	Het
Nuak2	A	G	1: 132,332,080	D532G	probably benign	Het
Nwd2	G	T	5: 63,725,193	V63L	possibly damaging	Het
Olfr20	A	G	11: 73,354,634	N294D	probably damaging	Het
Olfr725	T	C	14: 50,034,540	T288A	possibly damaging	Het
Otub1	C	T	19: 7,199,059	D237N	probably damaging	Het
Pik3cg	A	T	12: 32,204,739	F416L	probably damaging	Het
Psmb2	T	C	4: 126,677,837	M28T	probably damaging	Het
Saysd1	T	A	14: 20,082,926	K54N	probably benign	Het
Slc7a3	T	A	X: 101,080,875		probably benign	Het
Soat2	T	C	15: 102,156,809		probably benign	Het
Spink5	A	G	18: 44,010,244	K756R	probably benign	Het
Tlr4	A	G	4: 66,839,536	I189V	probably benign	Het
Vsig2	G	A	9: 37,541,479	V195I	possibly damaging	Het
Zfp217	A	G	2: 170,120,017	F130S	possibly damaging	Het
Zfp91	G	A	19: 12,770,292	A489V	probably benign	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	splice site	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
R3421: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
R7591:Slc5a4a	UTSW	10	76147667	critical splice donor site	probably benign
R7671:Slc5a4a	UTSW	10	76147550	missense	unknown
R8785:Slc5a4a	UTSW	10	76150404	critical splice acceptor site	probably benign
R8929:Slc5a4a	UTSW	10	76170783	missense	probably benign	0.27
R8993:Slc5a4a	UTSW	10	76186535	missense	probably benign	0.15
R9018:Slc5a4a	UTSW	10	76166712	missense	possibly damaging	0.67
R9474:Slc5a4a	UTSW	10	76150404	critical splice acceptor site	probably benign
R9567:Slc5a4a	UTSW	10	76186562	missense	probably benign	0.08
R9648:Slc5a4a	UTSW	10	76166774	missense	probably damaging	1.00
Z1177:Slc5a4a	UTSW	10	76166744	missense	probably benign	0.01
Z1177:Slc5a4a	UTSW	10	76182847	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTCTATTTCCGGACAAGTGTC -3'
(R):5'- CAGGAACATCTGGGCTCTTG -3'

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

Posted On

2015-02-18