Mutagenetix > Incidental Mutation

Incidental Mutation 'R4523:Slc5a4a'

386326

Institutional Source

Beutler Lab

Gene Symbol

Slc5a4a

Ensembl Gene

ENSMUSG00000020229

Gene Name

solute carrier family 5, member 4a

Synonyms

MMRRC Submission

042004-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R4523 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76147451-76189265 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76148362 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 46 (A46V)

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: A46V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020450
Gene: ENSMUSG00000020229
AA Change: A46V

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

0.1449

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8a1	G	T	5: 67,667,600	T796K	probably benign	Het
Atr	T	C	9: 95,862,863	S78P	probably damaging	Het
BC017643	A	G	11: 121,224,108		probably benign	Het
Calb2	C	T	8: 110,148,509		probably null	Het
Ccdc88c	G	T	12: 100,913,332	S1843R	possibly damaging	Het
Cdca7	A	G	2: 72,479,698	S77G	probably damaging	Het
Cnot2	C	T	10: 116,581,474		probably benign	Het
Cstf2t	T	A	19: 31,083,082	V6D	possibly damaging	Het
Dido1	T	C	2: 180,672,292	I852V	probably damaging	Het
Dmgdh	C	T	13: 93,688,630	Q154*	probably null	Het
Dnah12	T	C	14: 26,770,022	F1138S	probably damaging	Het
Dnah12	G	A	14: 26,876,958	A998T	possibly damaging	Het
Dusp5	T	G	19: 53,537,601	Y225D	probably damaging	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Fam126a	T	C	5: 23,965,122	T410A	probably benign	Het
Fam193a	G	A	5: 34,443,371	D601N	probably benign	Het
Fbxo41	A	G	6: 85,484,042	I228T	probably damaging	Het
Fmo2	T	C	1: 162,887,708	K115R	probably benign	Het
Gak	G	T	5: 108,576,566	Q1093K	probably benign	Het
Gm5277	G	T	3: 78,892,186		noncoding transcript	Het
Gm7173	A	T	X: 79,509,995	N291K	possibly damaging	Het
Hgsnat	A	G	8: 25,968,361		probably null	Het
Map3k3	G	A	11: 106,148,868	R278H	probably damaging	Het
Mrvi1	T	C	7: 110,923,841	M338V	probably benign	Het
Muc4	T	C	16: 32,736,336		probably benign	Het
Nectin3	C	A	16: 46,448,590	R483L	probably benign	Het
Nop2	G	T	6: 125,133,552	R47L	probably damaging	Het
Ntng1	A	G	3: 109,934,996	S154P	probably damaging	Het
Olfml2b	T	C	1: 170,669,222	I474T	probably benign	Het
Olfr1054	C	G	2: 86,333,300	D19H	probably benign	Het
Olfr843	T	C	9: 19,249,229	T57A	probably damaging	Het
Optc	G	T	1: 133,903,754	T138K	possibly damaging	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Pard3	C	T	8: 127,398,627	P421S	probably benign	Het
Pcdhb22	G	T	18: 37,520,421	E647D	probably benign	Het
Pclo	A	G	5: 14,679,992		probably benign	Het
Prkce	G	T	17: 86,490,750		probably null	Het
Prr12	T	C	7: 45,048,523	D656G	unknown	Het
Ptprk	A	T	10: 28,466,052	D485V	probably damaging	Het
Ptprn2	T	C	12: 116,876,000	L381P	probably damaging	Het
Rnf144b	T	C	13: 47,207,537	I51T	probably benign	Het
Rpl10l	T	C	12: 66,283,738	D207G	probably benign	Het
Sh3glb2	A	T	2: 30,350,699	V118E	probably damaging	Het
Sipa1l2	C	T	8: 125,492,424	G58D	probably damaging	Het
Tepp	T	A	8: 95,313,010	Y18*	probably null	Het
Tgm7	C	A	2: 121,098,588		probably null	Het
Tjap1	A	G	17: 46,258,792	V424A	probably benign	Het
Trpm6	A	T	19: 18,796,500	I414F	probably damaging	Het
Tsr3	C	G	17: 25,241,749	D196E	probably benign	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Vmn2r72	T	A	7: 85,751,926	H95L	probably benign	Het
Vmn2r97	T	A	17: 18,929,071	N240K	probably benign	Het
Xdh	C	A	17: 73,898,344	G1042V	probably damaging	Het
Zcchc4	A	G	5: 52,784,067	D68G	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	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
R3845:Slc5a4a	UTSW	10	76189149	missense	probably damaging	0.99
R3874:Slc5a4a	UTSW	10	76181655	missense	probably benign	0.42
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'- CGGTTTCAAGATGCGAAATTCTG -3'
(R):5'- GATCTTTCTGGAATCCCCGC -3'

Sequencing Primer
(F):5'- GCTAAATTAAATCGTGGGGTTTCC -3'
(R):5'- GCTCTTACTCTTTAATTCGAGGATG -3'

Posted On

2016-05-11