Mutagenetix > Incidental Mutation

Incidental Mutation 'R6176:Slc22a6'

487795

Institutional Source

Beutler Lab

Gene Symbol

Slc22a6

Ensembl Gene

ENSMUSG00000024650

Gene Name

solute carrier family 22 (organic anion transporter), member 6

Synonyms

mOat1, Orctl1, NKT, Oat1

MMRRC Submission

044318-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R6176 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8595403-8605663 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 8599161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 264 (E264A)

Ref Sequence

ENSEMBL: ENSMUSP00000010250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010250]

AlphaFold

Q8VC69

Predicted Effect

probably damaging
Transcript: ENSMUST00000010250
AA Change: E264A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000010250
Gene: ENSMUSG00000024650
AA Change: E264A

Domain	Start	End	E-Value	Type
Pfam:MFS_1	107	467	2.4e-25	PFAM
Pfam:Sugar_tr	107	512	8e-33	PFAM
low complexity region	520	531	N/A	INTRINSIC

Meta Mutation Damage Score

0.7406

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (60/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the sodium-dependent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and may be localized to the basolateral membrane. Four transcript variants encoding four different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene may result in increased thymus weight or impaired renal organic anion excretion for a subset of organic anions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	T	C	4: 63,295,969 (GRCm39)	Q966R	probably benign	Het
Amn	A	G	12: 111,240,590 (GRCm39)	D74G	possibly damaging	Het
Ank2	T	A	3: 126,739,120 (GRCm39)	T2255S	probably benign	Het
Ankfy1	G	A	11: 72,645,285 (GRCm39)	C788Y	probably benign	Het
Apaf1	A	G	10: 90,895,433 (GRCm39)		probably null	Het
Asl	T	A	5: 130,047,720 (GRCm39)	H82L	probably benign	Het
Atrn	A	G	2: 130,788,011 (GRCm39)	E271G	probably benign	Het
B4galnt3	A	G	6: 120,201,125 (GRCm39)	F184S	probably damaging	Het
C1s2	T	A	6: 124,602,768 (GRCm39)	H481L	probably damaging	Het
Cav2	A	G	6: 17,286,918 (GRCm39)	D58G	possibly damaging	Het
Cc2d2a	A	T	5: 43,866,455 (GRCm39)	H755L	probably benign	Het
Ccdc65	A	G	15: 98,606,433 (GRCm39)		probably null	Het
Celsr3	A	T	9: 108,705,554 (GRCm39)	Y679F	probably damaging	Het
Cep135	A	T	5: 76,772,490 (GRCm39)	Y625F	probably benign	Het
Cfhr1	A	G	1: 139,478,654 (GRCm39)	S58P	probably damaging	Het
Clip4	T	A	17: 72,113,628 (GRCm39)	C259*	probably null	Het
Cyp2j12	T	A	4: 96,029,074 (GRCm39)	Q69L	probably damaging	Het
Dock3	G	A	9: 106,790,147 (GRCm39)	T1484I	probably benign	Het
Ecscr	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	18: 35,849,813 (GRCm39)		probably benign	Het
Efcab3	A	T	11: 104,683,383 (GRCm39)	I1604F	probably benign	Het
Fam43b	T	C	4: 138,122,522 (GRCm39)	D266G	probably damaging	Het
Fbxl13	T	A	5: 21,705,498 (GRCm39)	I618F	possibly damaging	Het
Gne	C	T	4: 44,053,019 (GRCm39)		probably benign	Het
Gnpat	T	A	8: 125,605,593 (GRCm39)	V321E	probably damaging	Het
Gpatch8	G	A	11: 102,378,350 (GRCm39)	A200V	unknown	Het
Grid1	C	A	14: 35,284,504 (GRCm39)	A749E	probably benign	Het
Grip2	C	T	6: 91,756,832 (GRCm39)	V540I	probably benign	Het
Ice2	C	T	9: 69,324,354 (GRCm39)	T759M	probably damaging	Het
Jrk	G	T	15: 74,578,189 (GRCm39)	N365K	possibly damaging	Het
Kank4	A	G	4: 98,653,791 (GRCm39)	I879T	probably damaging	Het
Krtap20-1	T	A	16: 88,812,288 (GRCm39)	Y24*	probably null	Het
Lao1	T	A	4: 118,819,197 (GRCm39)	M1K	probably null	Het
Mlf1	A	G	3: 67,291,927 (GRCm39)	R31G	probably damaging	Het
Nt5c3b	T	C	11: 100,330,974 (GRCm39)		probably benign	Het
Nusap1	A	G	2: 119,460,902 (GRCm39)	R132G	probably benign	Het
Or11g1	A	G	14: 50,651,847 (GRCm39)	Y282C	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or5w20	G	A	2: 87,727,280 (GRCm39)	V254I	probably benign	Het
Or8d2b	A	C	9: 38,788,673 (GRCm39)	D67A	probably damaging	Het
Paqr9	G	T	9: 95,442,828 (GRCm39)	V273L	possibly damaging	Het
Pcdha9	A	T	18: 37,131,984 (GRCm39)	D351V	probably benign	Het
Pcdhga1	A	G	18: 37,797,282 (GRCm39)	D762G	probably benign	Het
Pde3a	T	A	6: 141,444,615 (GRCm39)	L1141Q	possibly damaging	Het
Pga5	T	A	19: 10,649,149 (GRCm39)		probably null	Het
Phldb3	C	A	7: 24,326,127 (GRCm39)	R570S	probably damaging	Het
Slc49a4	C	T	16: 35,525,167 (GRCm39)	M426I	probably benign	Het
Slit1	T	C	19: 41,626,034 (GRCm39)	K576R	probably damaging	Het
Sox21	T	C	14: 118,473,040 (GRCm39)	K3R	possibly damaging	Het
Stk32c	A	T	7: 138,700,691 (GRCm39)	D297E	probably benign	Het
Suclg1	T	C	6: 73,252,326 (GRCm39)	V323A	probably damaging	Het
Tas1r2	T	G	4: 139,396,199 (GRCm39)	C513G	probably damaging	Het
Tbc1d23	A	G	16: 56,992,152 (GRCm39)	Y603H	probably damaging	Het
Tbc1d31	T	C	15: 57,816,192 (GRCm39)	V642A	probably damaging	Het
Tle2	A	T	10: 81,423,168 (GRCm39)	D486V	probably damaging	Het
Tmem232	A	G	17: 65,792,867 (GRCm39)	I110T	probably damaging	Het
Tmem39b	A	G	4: 129,586,894 (GRCm39)	Y106H	probably damaging	Het
Trpm4	T	G	7: 44,976,100 (GRCm39)	N229T	probably damaging	Het
Tspo	A	G	15: 83,458,007 (GRCm39)	T120A	probably benign	Het
Ttc28	G	A	5: 111,371,851 (GRCm39)	A767T	probably damaging	Het
Usp53	G	A	3: 122,727,652 (GRCm39)	Q977*	probably null	Het
Vmn1r215	T	A	13: 23,260,528 (GRCm39)	D189E	probably damaging	Het
Vmn2r12	T	C	5: 109,233,866 (GRCm39)	Y782C	probably benign	Het
Vmn2r54	A	G	7: 12,349,908 (GRCm39)	L558P	probably damaging	Het
Zfp268	T	A	4: 145,350,628 (GRCm39)	C688*	probably null	Het

Other mutations in Slc22a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Slc22a6	APN	19	8,599,232 (GRCm39)	missense	probably benign	0.14
IGL00825:Slc22a6	APN	19	8,595,721 (GRCm39)	missense	possibly damaging	0.94
IGL01362:Slc22a6	APN	19	8,598,572 (GRCm39)	missense	possibly damaging	0.69
IGL01843:Slc22a6	APN	19	8,603,578 (GRCm39)	utr 3 prime	probably benign
IGL02583:Slc22a6	APN	19	8,600,980 (GRCm39)	missense	possibly damaging	0.79
R1004:Slc22a6	UTSW	19	8,595,763 (GRCm39)	missense	probably damaging	1.00
R1775:Slc22a6	UTSW	19	8,596,471 (GRCm39)	critical splice donor site	probably null
R1911:Slc22a6	UTSW	19	8,599,246 (GRCm39)	missense	probably benign
R2365:Slc22a6	UTSW	19	8,596,761 (GRCm39)	missense	probably benign
R3406:Slc22a6	UTSW	19	8,598,675 (GRCm39)	missense	probably damaging	1.00
R4106:Slc22a6	UTSW	19	8,595,874 (GRCm39)	missense	probably benign
R4693:Slc22a6	UTSW	19	8,601,016 (GRCm39)	missense	probably damaging	1.00
R5094:Slc22a6	UTSW	19	8,603,541 (GRCm39)	missense	probably damaging	1.00
R5347:Slc22a6	UTSW	19	8,595,917 (GRCm39)	missense	possibly damaging	0.94
R5360:Slc22a6	UTSW	19	8,596,786 (GRCm39)	missense	probably damaging	1.00
R5667:Slc22a6	UTSW	19	8,599,148 (GRCm39)	critical splice acceptor site	probably null
R5810:Slc22a6	UTSW	19	8,601,222 (GRCm39)	missense	probably damaging	1.00
R6336:Slc22a6	UTSW	19	8,599,494 (GRCm39)	missense	probably benign	0.02
R6864:Slc22a6	UTSW	19	8,595,805 (GRCm39)	missense	probably damaging	1.00
R6954:Slc22a6	UTSW	19	8,599,460 (GRCm39)	missense	probably benign	0.02
R7298:Slc22a6	UTSW	19	8,598,684 (GRCm39)	missense	possibly damaging	0.49
R7305:Slc22a6	UTSW	19	8,599,522 (GRCm39)	critical splice donor site	probably null
R7681:Slc22a6	UTSW	19	8,603,493 (GRCm39)	missense	probably benign	0.03
R7749:Slc22a6	UTSW	19	8,599,260 (GRCm39)	missense	possibly damaging	0.48
R7937:Slc22a6	UTSW	19	8,601,253 (GRCm39)	missense	probably benign	0.07
R8346:Slc22a6	UTSW	19	8,599,169 (GRCm39)	missense	probably damaging	1.00
R8347:Slc22a6	UTSW	19	8,599,169 (GRCm39)	missense	probably damaging	1.00
R8348:Slc22a6	UTSW	19	8,599,169 (GRCm39)	missense	probably damaging	1.00
R8363:Slc22a6	UTSW	19	8,596,386 (GRCm39)	missense	probably benign
R8698:Slc22a6	UTSW	19	8,600,889 (GRCm39)	missense	probably benign
R9431:Slc22a6	UTSW	19	8,598,596 (GRCm39)	missense	probably benign	0.10
R9602:Slc22a6	UTSW	19	8,598,560 (GRCm39)	nonsense	probably null
R9774:Slc22a6	UTSW	19	8,603,134 (GRCm39)	missense	probably benign	0.00
Z1088:Slc22a6	UTSW	19	8,599,197 (GRCm39)	missense	probably benign	0.03
Z1176:Slc22a6	UTSW	19	8,600,907 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- GAAGGAAGGTGGCAGTTCTC -3'
(R):5'- TAACCTCTGAGGCTTGGGTC -3'

Sequencing Primer
(F):5'- TGCTGGCATGCCTCTACACAG -3'
(R):5'- CTCTGAGGCTTGGGTCTTGGTAC -3'

Posted On

2017-10-10