Mutagenetix > Incidental Mutation

Incidental Mutation 'R1720:Slc5a4a'

265935

Institutional Source

Beutler Lab

Gene Symbol

Slc5a4a

Ensembl Gene

ENSMUSG00000020229

Gene Name

solute carrier family 5, member 4a

Synonyms

MMRRC Submission

039752-MU

Accession Numbers

Essential gene?

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

Stock #

R1720 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76147451-76189265 bp(+) (GRCm38)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

C to T at 76189269 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020450 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000020450

SMART Domains

Protein: ENSMUSP00000020450
Gene: ENSMUSG00000020229

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

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	A	G	11: 97,771,609	F146L	probably damaging	Het
9330182L06Rik	T	G	5: 9,428,407	C424G	probably damaging	Het
Acot5	A	G	12: 84,075,881	D413G	probably benign	Het
Actr5	G	T	2: 158,636,137	V476F	possibly damaging	Het
Adhfe1	G	A	1: 9,566,900	D426N	probably benign	Het
Adra1a	T	C	14: 66,638,278	L234P	probably damaging	Het
Akap9	G	T	5: 3,972,791	V1207L	possibly damaging	Het
Anapc2	A	G	2: 25,274,712	D36G	probably benign	Het
Apol8	A	G	15: 77,749,366	S337P	possibly damaging	Het
Asxl3	A	T	18: 22,452,435	D139V	probably damaging	Het
Atp13a4	A	T	16: 29,408,928	V1037E	probably damaging	Het
Baat	A	T	4: 49,490,231	F284L	probably benign	Het
C1qtnf6	A	T	15: 78,527,440	F40Y	probably damaging	Het
Caskin2	G	A	11: 115,802,782	H508Y	probably damaging	Het
Cass4	A	T	2: 172,427,734	I579F	probably damaging	Het
Cdk15	A	G	1: 59,289,758	Y277C	probably damaging	Het
Cit	G	A	5: 115,967,897	D947N	probably damaging	Het
Clint1	T	A	11: 45,887,410	I126K	probably damaging	Het
Col6a4	C	T	9: 106,026,472	G1640E	probably damaging	Het
Ddx10	T	C	9: 53,238,071	K119E	probably damaging	Het
Dennd1a	G	A	2: 37,800,197	Q964*	probably null	Het
Dnhd1	T	C	7: 105,693,828	F1460L	probably benign	Het
Edc3	T	C	9: 57,748,179		probably null	Het
Edn1	A	G	13: 42,305,350	E163G	probably benign	Het
Efl1	A	T	7: 82,683,721	D317V	possibly damaging	Het
F2	A	T	2: 91,628,830	Y430*	probably null	Het
Faap100	C	T	11: 120,374,581	V490M	probably damaging	Het
Fuz	G	T	7: 44,896,991	G104W	probably damaging	Het
Greb1l	C	A	18: 10,553,848	H1616Q	probably benign	Het
Grm1	G	T	10: 10,746,794		probably null	Het
Gucy2d	G	T	7: 98,477,230	A1098S	probably benign	Het
H1f0	T	A	15: 79,028,995	S92T	possibly damaging	Het
Hbb-bt	T	A	7: 103,813,876		probably benign	Het
Heg1	G	A	16: 33,707,179	A170T	probably benign	Het
Hspa4l	A	T	3: 40,781,617	K578*	probably null	Het
Ikbke	A	G	1: 131,259,210	S582P	possibly damaging	Het
Itga6	T	A	2: 71,820,166	F185L	probably damaging	Het
Itgal	T	A	7: 127,306,927	D396E	probably benign	Het
Kif5b	T	C	18: 6,213,427	H687R	probably benign	Het
Kmt2c	T	C	5: 25,299,184	N3709D	probably benign	Het
Lipf	A	T	19: 33,965,666	K125*	probably null	Het
Lrif1	A	T	3: 106,733,136	E512D	probably damaging	Het
Matn2	T	A	15: 34,345,274	Y142*	probably null	Het
Med13l	A	G	5: 118,741,995	T1051A	probably damaging	Het
Mpp3	T	A	11: 102,025,756	M1L	possibly damaging	Het
Mro	C	T	18: 73,876,735	S159L	probably benign	Het
Myh15	T	A	16: 49,092,782	D367E	probably damaging	Het
Myo1g	T	C	11: 6,512,490	Q547R	probably benign	Het
Neb	T	C	2: 52,207,721	I902M	probably benign	Het
Nsd1	G	A	13: 55,246,898	D771N	probably damaging	Het
Olfr1507	A	C	14: 52,490,594	Y40*	probably null	Het
Olfr248	A	G	1: 174,391,920	I284V	probably benign	Het
Olfr294	T	C	7: 86,616,456	N63S	probably damaging	Het
Olfr434	T	C	6: 43,217,560	S216P	probably damaging	Het
Olfr912	C	T	9: 38,581,289	T4I	probably benign	Het
Penk	A	G	4: 4,134,240	Y136H	probably damaging	Het
Prdm6	C	T	18: 53,540,200	S144L	probably benign	Het
Ptprq	T	A	10: 107,686,294	I599F	probably damaging	Het
Racgap1	A	T	15: 99,628,769	C304*	probably null	Het
Rbp3	T	C	14: 33,956,909	V938A	probably benign	Het
Rpp30	A	G	19: 36,094,427	K132E	probably damaging	Het
Rxfp2	A	T	5: 150,043,099	R101*	probably null	Het
Ryr1	A	T	7: 29,101,870	V823E	probably damaging	Het
S100pbp	A	T	4: 129,182,093	D146E	probably damaging	Het
Sdr9c7	T	A	10: 127,902,258	V135E	probably damaging	Het
Serpinb12	A	G	1: 106,946,614	D23G	probably damaging	Het
Serpinf1	T	A	11: 75,413,981	T185S	probably null	Het
Slc23a1	A	C	18: 35,625,851	C96G	possibly damaging	Het
Suco	A	T	1: 161,834,054	L936Q	probably damaging	Het
Tmem144	T	C	3: 79,825,299	Y224C	probably damaging	Het
Tpm4	T	A	8: 72,144,754		probably null	Het
Ttn	T	C	2: 76,730,070	E29329G	probably damaging	Het
Txn1	T	C	4: 57,943,922	I101V	probably benign	Het
Ube2o	A	T	11: 116,544,607	C452S	probably benign	Het
Uhrf1bp1l	T	C	10: 89,782,586	V141A	probably damaging	Het
Uxs1	A	T	1: 43,764,921	I278N	probably damaging	Het
Vps54	T	C	11: 21,306,519	F663L	probably damaging	Het
Wdfy3	CG	C	5: 101,926,525		probably null	Het
Zc3h11a	A	G	1: 133,621,701	S741P	probably damaging	Het
Zdbf2	G	A	1: 63,303,277	V272I	possibly damaging	Het
Zdhhc24	A	G	19: 4,878,951	N68S	probably damaging	Het
Znfx1	A	T	2: 167,044,066	L858*	probably null	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
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

Predicted Primers

Posted On

2015-02-05