Mutagenetix > Incidental Mutation

Incidental Mutation 'R3913:Slc23a3'

309486

Institutional Source

Beutler Lab

Gene Symbol

Slc23a3

Ensembl Gene

ENSMUSG00000026205

Gene Name

solute carrier family 23 (nucleobase transporters), member 3

Synonyms

Yspl1, SVCT3

MMRRC Submission

040911-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3913 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75102185-75110534 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75105566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 422 (I422F)

Ref Sequence

ENSEMBL: ENSMUSP00000027405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027405]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027405
AA Change: I422F

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027405
Gene: ENSMUSG00000026205
AA Change: I422F

Domain	Start	End	E-Value	Type
low complexity region	20	30	N/A	INTRINSIC
Pfam:Xan_ur_permease	50	122	4.6e-12	PFAM
Pfam:Xan_ur_permease	115	476	2.3e-100	PFAM
transmembrane domain	490	512	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188033

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188080

Meta Mutation Damage Score

0.2167

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh7	T	A	3: 137,927,541 (GRCm39)	V29E	probably damaging	Het
Adra1d	T	A	2: 131,404,075 (GRCm39)	D5V	probably damaging	Het
Arid1b	A	G	17: 5,392,532 (GRCm39)	I2021V	possibly damaging	Het
Birc6	A	T	17: 74,880,608 (GRCm39)	R462*	probably null	Het
Cchcr1	T	C	17: 35,836,233 (GRCm39)	V341A	probably damaging	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Crybg1	T	C	10: 43,874,759 (GRCm39)	D783G	possibly damaging	Het
Dcaf15	T	C	8: 84,825,794 (GRCm39)	Y271C	probably damaging	Het
Dcun1d2	A	C	8: 13,331,082 (GRCm39)	M16R	probably damaging	Het
Dnah17	C	T	11: 117,971,675 (GRCm39)		probably benign	Het
Dnttip2	T	C	3: 122,069,040 (GRCm39)	V85A	possibly damaging	Het
Eprs1	G	A	1: 185,111,939 (GRCm39)		probably null	Het
Exoc7	T	C	11: 116,197,731 (GRCm39)	D27G	probably benign	Het
Gdpd5	A	G	7: 99,087,546 (GRCm39)	D70G	probably null	Het
Glyr1	A	G	16: 4,849,777 (GRCm39)	F199L	probably damaging	Het
Golga4	T	A	9: 118,368,039 (GRCm39)	M414K	probably damaging	Het
Gpr132	C	A	12: 112,816,640 (GRCm39)	W62L	probably benign	Het
Gpr179	A	T	11: 97,225,591 (GRCm39)	V2188E	probably benign	Het
Ilf3	C	T	9: 21,309,422 (GRCm39)	A526V	possibly damaging	Het
Ints10	T	A	8: 69,266,272 (GRCm39)	S478T	probably damaging	Het
Kcnab2	A	G	4: 152,479,689 (GRCm39)	V187A	probably damaging	Het
Kcnj15	C	T	16: 95,097,329 (GRCm39)	T317I	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klhl30	T	C	1: 91,287,166 (GRCm39)	V484A	possibly damaging	Het
Krt90	G	A	15: 101,471,218 (GRCm39)	R15W	probably damaging	Het
Liph	G	T	16: 21,781,009 (GRCm39)		probably benign	Het
Lrrc7	G	A	3: 157,997,589 (GRCm39)	L158F	probably damaging	Het
Maml1	T	C	11: 50,154,259 (GRCm39)	T602A	probably benign	Het
Mast4	A	G	13: 102,895,177 (GRCm39)	L782P	probably damaging	Het
Mei4	A	G	9: 81,772,316 (GRCm39)	K43R	probably benign	Het
Mettl4	A	G	17: 95,047,960 (GRCm39)	V227A	probably benign	Het
Mst1r	G	A	9: 107,791,945 (GRCm39)	R827Q	probably benign	Het
Olfm1	A	G	2: 28,098,186 (GRCm39)	T83A	possibly damaging	Het
Or1e30	G	T	11: 73,678,522 (GRCm39)	G253W	probably damaging	Het
Or5m10b	T	C	2: 85,699,115 (GRCm39)	Y60H	probably damaging	Het
Parp4	A	G	14: 56,857,975 (GRCm39)	E869G	probably damaging	Het
Pate4	C	A	9: 35,523,140 (GRCm39)	M1I	probably null	Het
Patj	A	G	4: 98,457,338 (GRCm39)	D1280G	probably damaging	Het
Ppargc1b	T	C	18: 61,444,447 (GRCm39)	S255G	probably damaging	Het
Rev3l	A	G	10: 39,696,552 (GRCm39)	I521M	probably damaging	Het
Rlim	T	C	X: 103,006,267 (GRCm39)	T545A	probably benign	Het
Robo2	A	T	16: 73,831,893 (GRCm39)	D262E	probably damaging	Het
Sec14l5	A	G	16: 4,965,720 (GRCm39)		probably benign	Het
Sema4b	A	G	7: 79,870,222 (GRCm39)	S467G	probably benign	Het
Setd2	C	T	9: 110,380,114 (GRCm39)	R1310C	probably damaging	Het
Sh3d19	T	C	3: 85,992,083 (GRCm39)	I37T	probably damaging	Het
Snap91	T	C	9: 86,674,610 (GRCm39)	T534A	possibly damaging	Het
Son	A	T	16: 91,456,999 (GRCm39)		probably benign	Het
Tnks	A	T	8: 35,340,228 (GRCm39)	S463R	probably damaging	Het
Tubb3	A	G	8: 124,147,748 (GRCm39)	H227R	possibly damaging	Het
Tyw1	T	A	5: 130,287,876 (GRCm39)	V36D	probably damaging	Het
Vwa5a	T	C	9: 38,646,039 (GRCm39)	I469T	probably damaging	Het
Zdhhc8	A	G	16: 18,044,587 (GRCm39)	L311P	possibly damaging	Het

Other mutations in Slc23a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00799:Slc23a3	APN	1	75,109,925 (GRCm39)	missense	possibly damaging	0.92
R0468:Slc23a3	UTSW	1	75,109,874 (GRCm39)	missense	possibly damaging	0.82
R3858:Slc23a3	UTSW	1	75,106,040 (GRCm39)	critical splice donor site	probably null
R4060:Slc23a3	UTSW	1	75,109,964 (GRCm39)	unclassified	probably benign
R4592:Slc23a3	UTSW	1	75,105,200 (GRCm39)	missense	probably damaging	1.00
R4937:Slc23a3	UTSW	1	75,109,268 (GRCm39)	missense	probably damaging	1.00
R4940:Slc23a3	UTSW	1	75,110,447 (GRCm39)	splice site	probably null
R6213:Slc23a3	UTSW	1	75,108,392 (GRCm39)	missense	probably benign
R6402:Slc23a3	UTSW	1	75,105,200 (GRCm39)	missense	probably damaging	0.99
R6644:Slc23a3	UTSW	1	75,105,191 (GRCm39)	missense	probably damaging	0.98
R7068:Slc23a3	UTSW	1	75,109,877 (GRCm39)	missense	probably benign	0.00
R7944:Slc23a3	UTSW	1	75,106,040 (GRCm39)	critical splice donor site	probably null
R7945:Slc23a3	UTSW	1	75,106,040 (GRCm39)	critical splice donor site	probably null
R8220:Slc23a3	UTSW	1	75,110,511 (GRCm39)	unclassified	probably benign
R8368:Slc23a3	UTSW	1	75,106,281 (GRCm39)	missense	probably damaging	1.00
R8443:Slc23a3	UTSW	1	75,110,085 (GRCm39)	missense	probably benign	0.12
R8726:Slc23a3	UTSW	1	75,106,173 (GRCm39)	missense	probably benign	0.02
R8843:Slc23a3	UTSW	1	75,106,271 (GRCm39)	missense	probably damaging	1.00
R9014:Slc23a3	UTSW	1	75,109,274 (GRCm39)	missense	probably benign	0.02
R9759:Slc23a3	UTSW	1	75,109,925 (GRCm39)	frame shift	probably null
R9760:Slc23a3	UTSW	1	75,109,925 (GRCm39)	frame shift	probably null
R9761:Slc23a3	UTSW	1	75,109,925 (GRCm39)	frame shift	probably null
R9762:Slc23a3	UTSW	1	75,109,925 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AAGAGACTCGGTTCAGCTAAG -3'
(R):5'- TGGGTTGAGTCAAAGAGGTACC -3'

Sequencing Primer
(F):5'- GACTCGGTTCAGCTAAGAAAAC -3'
(R):5'- ACCTTTGATAGAGTGTCGAGGATAC -3'

Posted On

2015-04-17