Mutagenetix > Incidental Mutation

Incidental Mutation 'R2262:Slc22a28'

243906

Institutional Source

Beutler Lab

Gene Symbol

Slc22a28

Ensembl Gene

ENSMUSG00000063590

Gene Name

solute carrier family 22, member 28

Synonyms

Gm5631

MMRRC Submission

040262-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

R2262 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8062209-8131982 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8071208 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 358 (Y358C)

Ref Sequence

ENSEMBL: ENSMUSP00000067114 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065651]

AlphaFold

B2RT89

Predicted Effect

probably benign
Transcript: ENSMUST00000065651
AA Change: Y358C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000067114
Gene: ENSMUSG00000063590
AA Change: Y358C

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Sugar_tr	99	527	1.4e-26	PFAM
Pfam:MFS_1	140	375	1.1e-15	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932431P20Rik	T	C	7: 29,532,562		noncoding transcript	Het
Ahdc1	A	G	4: 133,063,163	T572A	unknown	Het
Bco1	T	C	8: 117,133,025	L489S	probably damaging	Het
Brinp1	A	G	4: 68,829,354	Y171H	probably damaging	Het
C1rl	A	T	6: 124,506,948	I186F	probably damaging	Het
Cacna1d	A	G	14: 30,491,016	V29A	possibly damaging	Het
Calcrl	T	C	2: 84,345,173	D279G	probably damaging	Het
Cass4	T	C	2: 172,427,254	S421P	probably damaging	Het
Casz1	G	T	4: 148,929,099	R40L	probably damaging	Het
Cdh23	A	G	10: 60,317,128	V2372A	probably damaging	Het
Cdk17	T	A	10: 93,211,958	S56T	possibly damaging	Het
Ces2h	T	A	8: 105,016,559	M142K	probably damaging	Het
Cfap161	C	T	7: 83,793,372	V78I	probably benign	Het
Chst8	T	A	7: 34,676,010	M135L	probably benign	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Dcc	C	T	18: 71,374,551	E917K	probably damaging	Het
Dnah11	T	A	12: 117,880,025	M4362L	probably benign	Het
Dnah11	T	C	12: 117,966,639	T3324A	probably damaging	Het
Dnah8	A	G	17: 30,673,835	N798S	probably damaging	Het
Dnajc3	A	G	14: 118,960,820	Q118R	probably damaging	Het
Dok4	A	T	8: 94,866,512	C182S	probably damaging	Het
Fnbp4	G	T	2: 90,757,404	L375F	probably damaging	Het
Gbp8	T	C	5: 105,016,133	Q433R	possibly damaging	Het
Glt1d1	A	G	5: 127,657,112	M117V	probably benign	Het
Hcar1	A	C	5: 123,878,586	D347E	probably benign	Het
Kif16b	T	C	2: 142,740,917	K563E	probably damaging	Het
Klra17	A	G	6: 129,874,794		probably null	Het
Krt35	C	T	11: 100,095,767	M140I	probably benign	Het
Lamb2	A	T	9: 108,480,610	I111F	probably damaging	Het
Nell1	C	T	7: 50,560,821	T494I	possibly damaging	Het
Noa1	G	A	5: 77,309,804	Q85*	probably null	Het
Nsun4	A	T	4: 116,052,950	S138T	probably benign	Het
Pcdh1	A	T	18: 38,198,657	L431H	probably benign	Het
Pde1a	T	A	2: 80,128,931		probably benign	Het
Pdgfra	T	C	5: 75,185,523	V778A	probably benign	Het
Plekhj1	A	T	10: 80,796,472	N55K	probably benign	Het
Ptpn20	A	G	14: 33,612,311	M49V	probably benign	Het
Rbm6	A	G	9: 107,791,090	L547P	probably damaging	Het
Rexo1	C	T	10: 80,549,569	E552K	probably benign	Het
Ryr3	C	G	2: 112,675,873	R3443P	probably damaging	Het
Saxo1	C	T	4: 86,478,975	D109N	probably damaging	Het
Setd2	A	G	9: 110,561,243		probably benign	Het
Sptbn4	T	A	7: 27,434,357	D77V	probably damaging	Het
Ssh1	T	C	5: 113,942,703	S867G	possibly damaging	Het
Stmn2	T	C	3: 8,541,895	F25S	probably damaging	Het
Tcirg1	C	T	19: 3,903,591	R112H	possibly damaging	Het
Tekt4	T	A	17: 25,476,511	S439R	possibly damaging	Het
Trpc1	T	A	9: 95,706,933	N746I	probably damaging	Het
Tuba1c	A	G	15: 99,037,876	H406R	probably damaging	Het
Uqcrfs1	G	A	13: 30,541,107	S150L	probably benign	Het
Vcp	T	C	4: 42,980,828	T761A	probably benign	Het
Vmn1r68	T	C	7: 10,527,445	E242G	probably damaging	Het
Vmn2r29	T	A	7: 7,240,086	H22L	possibly damaging	Het
Vmn2r32	T	A	7: 7,474,619	I258L	probably benign	Het
Vmn2r37	T	A	7: 9,217,944	T307S	probably damaging	Het
Vmn2r6	T	C	3: 64,556,669	N248S	probably benign	Het
Vmn2r63	G	T	7: 42,928,607	T169N	probably benign	Het
Vmn2r67	T	C	7: 85,136,974	T608A	probably damaging	Het
Xpo1	T	A	11: 23,284,634		probably null	Het
Zfp180	T	G	7: 24,104,624	V156G	probably benign	Het
Zfp37	A	T	4: 62,191,636	L397Q	probably damaging	Het

Other mutations in Slc22a28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Slc22a28	APN	19	8130203	missense	possibly damaging	0.89
IGL00515:Slc22a28	APN	19	8117064	missense	probably benign	0.34
IGL01025:Slc22a28	APN	19	8116908	splice site	probably benign
IGL02697:Slc22a28	APN	19	8117127	missense	probably benign	0.06
PIT4378001:Slc22a28	UTSW	19	8071914	missense	probably damaging	0.96
R0744:Slc22a28	UTSW	19	8116833	missense	possibly damaging	0.94
R0836:Slc22a28	UTSW	19	8116833	missense	possibly damaging	0.94
R1398:Slc22a28	UTSW	19	8130202	nonsense	probably null
R1456:Slc22a28	UTSW	19	8071858	missense	possibly damaging	0.50
R1603:Slc22a28	UTSW	19	8063309	missense	probably damaging	1.00
R1993:Slc22a28	UTSW	19	8117124	missense	possibly damaging	0.79
R2254:Slc22a28	UTSW	19	8064493	missense	probably benign
R4078:Slc22a28	UTSW	19	8101413	missense	probably benign	0.15
R4165:Slc22a28	UTSW	19	8063408	missense	possibly damaging	0.95
R4612:Slc22a28	UTSW	19	8101406	missense	probably damaging	1.00
R4947:Slc22a28	UTSW	19	8131452	missense	probably benign	0.03
R5573:Slc22a28	UTSW	19	8071097	missense	possibly damaging	0.50
R5611:Slc22a28	UTSW	19	8063333	missense	probably damaging	1.00
R5621:Slc22a28	UTSW	19	8071011	missense	probably benign	0.00
R5671:Slc22a28	UTSW	19	8131431	missense	probably damaging	1.00
R6063:Slc22a28	UTSW	19	8117022	missense	probably benign	0.01
R6358:Slc22a28	UTSW	19	8071888	missense	probably damaging	0.99
R6385:Slc22a28	UTSW	19	8101480	missense	probably damaging	0.99
R6680:Slc22a28	UTSW	19	8101393	missense	probably benign	0.07
R6767:Slc22a28	UTSW	19	8117045	missense	probably damaging	1.00
R6865:Slc22a28	UTSW	19	8064491	nonsense	probably null
R6947:Slc22a28	UTSW	19	8064510	missense	possibly damaging	0.58
R7049:Slc22a28	UTSW	19	8071905	missense	probably benign
R7269:Slc22a28	UTSW	19	8117127	missense	probably benign	0.06
R7484:Slc22a28	UTSW	19	8071127	missense	probably benign
R7823:Slc22a28	UTSW	19	8064525	missense	probably benign	0.38
R7856:Slc22a28	UTSW	19	8063333	missense	probably damaging	1.00
R7980:Slc22a28	UTSW	19	8101473	missense	probably damaging	0.99
R8323:Slc22a28	UTSW	19	8131424	missense	probably damaging	1.00
R8404:Slc22a28	UTSW	19	8131429	nonsense	probably null
R8435:Slc22a28	UTSW	19	8071200	missense	probably benign	0.13
R8529:Slc22a28	UTSW	19	8063413	missense	probably benign	0.01
R9149:Slc22a28	UTSW	19	8071840	missense	probably benign	0.00
R9727:Slc22a28	UTSW	19	8131454	missense	probably benign
R9782:Slc22a28	UTSW	19	8064448	missense	probably null	1.00
Z1088:Slc22a28	UTSW	19	8062398	missense	probably damaging	0.96
Z1176:Slc22a28	UTSW	19	8062383	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGTACAAATACAGCAGTCAACATG -3'
(R):5'- CGATGTGATCACTCATTACACAATG -3'

Sequencing Primer
(F):5'- GTCAACATGAAGATTCCCCTCAGG -3'
(R):5'- TCATTACACAATGATTCTTGGTAGC -3'

Posted On

2014-10-16