Mutagenetix > Incidental Mutation

Incidental Mutation 'R3845:Slc5a4a'

277333

Institutional Source

Beutler Lab

Gene Symbol

Slc5a4a

Ensembl Gene

ENSMUSG00000020229

Gene Name

solute carrier family 5, member 4a

Synonyms

MMRRC Submission

040893-MU

Accession Numbers

Essential gene?

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

Stock #

R3845 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76147451-76189265 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76189149 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 620 (E620G)

Ref Sequence

ENSEMBL: ENSMUSP00000020450 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000020450
AA Change: E620G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020450
Gene: ENSMUSG00000020229
AA Change: E620G

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

0.0951

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apool	A	T	X: 112,364,458		probably benign	Het
Atp4a	A	G	7: 30,717,115	N439S	probably null	Het
AU041133	T	A	10: 82,151,318	H268Q	probably damaging	Het
Ccdc105	T	C	10: 78,748,698	N330S	probably benign	Het
Ccdc136	C	T	6: 29,417,177	R666W	probably benign	Het
Ccdc97	T	C	7: 25,715,028		probably benign	Het
Celf1	T	C	2: 91,009,238	V336A	possibly damaging	Het
Chd3	T	C	11: 69,346,759	N1870D	possibly damaging	Het
Col5a3	C	T	9: 20,808,377	D229N	unknown	Het
Cpn1	G	T	19: 43,974,084	P142Q	possibly damaging	Het
Cubn	T	C	2: 13,283,008	D3420G	probably damaging	Het
Cyp2u1	A	G	3: 131,293,486	F482S	possibly damaging	Het
Foxo1	T	A	3: 52,346,280	D621E	probably benign	Het
Gm13084	T	C	4: 143,811,975	E142G	probably damaging	Het
Gm5346	T	C	8: 43,626,632	N185S	probably benign	Het
Grid2	A	G	6: 64,345,842	M609V	possibly damaging	Het
Hsd17b3	A	T	13: 64,089,062	F23I	possibly damaging	Het
Kcnk10	A	G	12: 98,440,744	I217T	probably benign	Het
Mis18bp1	G	A	12: 65,149,142	S616L	possibly damaging	Het
Mtch1	A	T	17: 29,342,832	F133I	probably damaging	Het
Myh4	T	A	11: 67,259,105	V1830E	possibly damaging	Het
Nav3	T	C	10: 109,853,376	M347V	possibly damaging	Het
Nbea	A	G	3: 56,086,292		probably benign	Het
Nhej1	A	T	1: 74,968,883	D76E	probably benign	Het
Nsf	C	T	11: 103,930,752	E26K	possibly damaging	Het
Olfr1024	A	C	2: 85,904,737	C106G	probably damaging	Het
Papd5	A	T	8: 88,250,664	I322F	possibly damaging	Het
Pias3	T	C	3: 96,702,210	V307A	probably benign	Het
Pltp	T	A	2: 164,854,288	M135L	probably benign	Het
Plxna2	A	G	1: 194,793,790	Y1106C	probably damaging	Het
Ptgir	G	A	7: 16,907,386	R201H	probably damaging	Het
Ptk7	A	T	17: 46,586,418	D329E	probably benign	Het
Pygl	T	C	12: 70,198,443	D411G	probably benign	Het
Rev1	A	T	1: 38,098,988	M72K	probably damaging	Het
Sfrp1	T	C	8: 23,412,248	L155P	probably damaging	Het
Smarca2	A	G	19: 26,720,873	I1314V	probably benign	Het
Tas2r109	G	A	6: 132,980,803	L55F	probably damaging	Het
Tek	T	A	4: 94,804,872	C274S	probably damaging	Het
Tmem38b	T	A	4: 53,859,905	D228E	probably benign	Het
Topbp1	T	C	9: 103,309,923	V109A	possibly damaging	Het
Trbv5	A	G	6: 41,062,748	I96V	probably benign	Het
Trim16	T	G	11: 62,836,672		probably benign	Het
Upf3a	A	T	8: 13,798,238	T345S	probably benign	Het
Usp15	A	G	10: 123,119,135	S913P	probably damaging	Het
Vmn2r124	T	A	17: 18,073,691	V680D	possibly damaging	Het
Vmn2r91	G	A	17: 18,107,598	V485I	probably benign	Het
Zdbf2	A	T	1: 63,308,324	H1954L	possibly 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	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
R3422:Slc5a4a	UTSW	10	76176573	missense	probably benign	0.00
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'- AAATACTTCCTCATGATCCTTCTGG -3'
(R):5'- ACCAATTGCTAATGGCCTCC -3'

Sequencing Primer
(F):5'- GATCCTTCTGGCTCTTGTAAAAATTG -3'
(R):5'- CAATTGCTAATGGCCTCCTGTAAG -3'

Posted On

2015-04-06