Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02629:Slc5a4a'

301213

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc5a4a

Ensembl Gene

ENSMUSG00000020229

Gene Name

solute carrier family 5, member 4a

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL02629

Quality Score

Status

Chromosome

Chromosomal Location

76147451-76189265 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76147579 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 17 (S17T)

Ref Sequence

ENSEMBL: ENSMUSP00000020450 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000020450
AA Change: S17T

SMART Domains

Protein: ENSMUSP00000020450
Gene: ENSMUSG00000020229
AA Change: S17T

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	C	10: 100,609,144		probably benign	Het
Aadacl3	A	G	4: 144,463,629	I34T	possibly damaging	Het
Acan	T	A	7: 79,111,979	I1979N	possibly damaging	Het
Ankrd27	A	G	7: 35,625,696	D701G	probably benign	Het
Arhgap31	C	T	16: 38,609,164	G450S	probably benign	Het
Braf	T	C	6: 39,688,299	E45G	possibly damaging	Het
Btnl6	C	T	17: 34,514,468	V178M	probably damaging	Het
Capg	A	T	6: 72,555,754	Q67L	probably benign	Het
Carmil3	A	G	14: 55,499,068	N663S	probably damaging	Het
Casz1	T	A	4: 148,944,391	S1098T	probably benign	Het
Cd55b	A	T	1: 130,419,798		probably benign	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cenpf	A	G	1: 189,652,334	L2583P	probably damaging	Het
Clec4a1	A	C	6: 122,932,147		probably null	Het
Corin	T	C	5: 72,332,673	N653S	probably damaging	Het
Dhx36	T	C	3: 62,506,734	E69G	probably benign	Het
Dpy19l1	C	A	9: 24,438,713		probably benign	Het
Fam184a	T	C	10: 53,698,811	N234S	possibly damaging	Het
Foxg1	A	G	12: 49,385,548	S355G	probably benign	Het
Fsd1l	T	C	4: 53,686,417	S277P	probably damaging	Het
Hadh	T	A	3: 131,235,635	D245V	probably damaging	Het
Jag2	G	A	12: 112,914,514		probably benign	Het
Klhl18	A	T	9: 110,429,938		probably benign	Het
Lmx1a	G	T	1: 167,844,623		probably benign	Het
Mcoln2	A	G	3: 146,170,044	Y89C	probably benign	Het
Mug1	A	T	6: 121,840,065	Y31F	possibly damaging	Het
Ndufb5	A	G	3: 32,737,199	T32A	probably benign	Het
Nub1	C	T	5: 24,703,464	H404Y	possibly damaging	Het
Nudt6	A	G	3: 37,405,171	Y222H	probably benign	Het
Olfr1269	A	T	2: 90,118,857	L247*	probably null	Het
Pla2g4c	A	T	7: 13,335,377	R159*	probably null	Het
Pnpla7	A	G	2: 25,050,945	D1103G	probably damaging	Het
Pof1b	T	G	X: 112,645,237		probably benign	Het
Prrg2	C	T	7: 45,056,742		probably null	Het
Rab3gap1	A	G	1: 127,909,863	T221A	probably benign	Het
Rfx7	A	G	9: 72,619,259	N1244D	probably damaging	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Rnf123	A	T	9: 108,070,789		probably benign	Het
Rnf44	T	G	13: 54,683,062	Q207P	possibly damaging	Het
Serpina3g	A	G	12: 104,241,178	D200G	probably damaging	Het
Smc4	G	T	3: 69,025,873	C609F	probably damaging	Het
Sync	T	C	4: 129,293,951	F259L	probably damaging	Het
Tas2r113	T	C	6: 132,893,336	L109P	probably damaging	Het
Tjp2	C	A	19: 24,122,379		probably benign	Het
Tmem30a	C	A	9: 79,776,249		probably benign	Het
Unc80	T	C	1: 66,483,317	V226A	possibly damaging	Het
Upk2	A	T	9: 44,454,139	L44Q	probably damaging	Het
Usp42	T	C	5: 143,723,154	Y203C	possibly damaging	Het
Vmn1r28	A	T	6: 58,265,816	I215F	probably benign	Het
Zswim2	A	G	2: 83,925,209	V116A	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
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
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

Posted On

2015-04-16