Mutagenetix > Incidental Mutation

Incidental Mutation 'R1951:Slc22a18'

217299

Institutional Source

Beutler Lab

Gene Symbol

Slc22a18

Ensembl Gene

ENSMUSG00000000154

Gene Name

solute carrier family 22 (organic cation transporter), member 18

Synonyms

Orctl2, TSSC5, IMPT1, BWSCR1A, Impt1, Slc22a1l, BWR1A, p45-BWR1A

MMRRC Submission

039965-MU

Accession Numbers

Essential gene?

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

Stock #

R1951 (G1)

Quality Score

119

Status

Validated

Chromosome

Chromosomal Location

143027502-143053071 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 143029984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 17 (T17I)

Ref Sequence

ENSEMBL: ENSMUSP00000101537 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052348] [ENSMUST00000105917] [ENSMUST00000141988] [ENSMUST00000145943] [ENSMUST00000150791]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000052348
AA Change: T17I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056082
Gene: ENSMUSG00000000154
AA Change: T17I

Domain	Start	End	E-Value	Type
Pfam:MFS_1	14	339	1.1e-31	PFAM
Pfam:MFS_1	229	410	5.2e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000105917
AA Change: T17I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101537
Gene: ENSMUSG00000000154
AA Change: T17I

Domain	Start	End	E-Value	Type
Pfam:MFS_1	14	337	7.8e-32	PFAM
Pfam:MFS_3	66	346	6.5e-9	PFAM
Pfam:MFS_1	229	410	3.2e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000141988
AA Change: T17I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000145943
AA Change: T17I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115345
Gene: ENSMUSG00000000154
AA Change: T17I

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146983
AA Change: P99S

Predicted Effect

probably damaging
Transcript: ENSMUST00000150791
AA Change: T17I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.5082

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

98% (84/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene is imprinted, with preferential expression from the maternal allele. Mutations in this gene have been found in Wilms' tumor and lung cancer. This protein may act as a transporter of organic cations, and have a role in the transport of chloroquine and quinidine-related compounds in kidney. Several alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Oct 2015]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	T	7: 119,960,655 (GRCm39)	R706C	probably damaging	Het
Adcy3	T	C	12: 4,258,624 (GRCm39)	F847S	probably benign	Het
Alyref	C	G	11: 120,486,758 (GRCm39)	V168L	probably damaging	Het
Arhgap28	G	A	17: 68,208,336 (GRCm39)	A44V	probably benign	Het
Asap3	C	T	4: 135,954,767 (GRCm39)	R60*	probably null	Het
Baz1b	T	A	5: 135,245,593 (GRCm39)	N347K	probably benign	Het
Best2	T	A	8: 85,737,858 (GRCm39)	N179I	possibly damaging	Het
Bfar	C	T	16: 13,519,970 (GRCm39)	S276L	probably damaging	Het
Bloc1s3	A	G	7: 19,241,483 (GRCm39)	V15A	possibly damaging	Het
Borcs5	A	G	6: 134,687,230 (GRCm39)	H196R	unknown	Het
Calhm3	A	G	19: 47,140,256 (GRCm39)	L279P	probably benign	Het
Cand1	A	T	10: 119,043,925 (GRCm39)		probably benign	Het
Car15	T	C	16: 17,655,269 (GRCm39)	D57G	possibly damaging	Het
Casp12	G	A	9: 5,348,959 (GRCm39)		probably null	Het
Cd93	T	C	2: 148,283,778 (GRCm39)	T523A	probably benign	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Ckap5	A	G	2: 91,386,837 (GRCm39)		probably benign	Het
Col6a5	G	A	9: 105,814,156 (GRCm39)	R619W	unknown	Het
Colec12	G	A	18: 9,859,975 (GRCm39)		probably null	Het
Crmp1	G	A	5: 37,430,699 (GRCm39)	V222I	possibly damaging	Het
Crnkl1	G	A	2: 145,770,120 (GRCm39)	A241V	probably damaging	Het
Ctbp2	A	G	7: 132,616,756 (GRCm39)	S60P	probably benign	Het
Cyp2c68	T	C	19: 39,700,972 (GRCm39)	Y282C	probably benign	Het
Dhx36	T	C	3: 62,391,694 (GRCm39)	I551V	probably damaging	Het
Dlg5	T	A	14: 24,206,537 (GRCm39)		probably benign	Het
Dlgap1	A	T	17: 71,068,306 (GRCm39)	I300F	probably damaging	Het
Dmd	T	A	X: 82,874,123 (GRCm39)	I1342N	probably damaging	Het
Dnah6	T	A	6: 73,061,704 (GRCm39)	R2794*	probably null	Het
Fcgr1	G	A	3: 96,194,386 (GRCm39)	T167I	probably damaging	Het
Fgl1	G	T	8: 41,650,387 (GRCm39)	F187L	probably benign	Het
Fras1	T	A	5: 96,860,242 (GRCm39)	V2096E	probably benign	Het
Gm10647	A	G	9: 66,705,762 (GRCm39)		probably benign	Het
Gm14226	G	A	2: 154,866,255 (GRCm39)	D71N	possibly damaging	Het
Grip2	A	T	6: 91,760,829 (GRCm39)	I284N	probably damaging	Het
Hirip3	A	G	7: 126,462,038 (GRCm39)	R19G	probably damaging	Het
Ift70b	A	G	2: 75,767,586 (GRCm39)	L389P	probably damaging	Het
Irx5	A	G	8: 93,086,438 (GRCm39)	N174D	probably damaging	Het
Itgal	A	G	7: 126,929,317 (GRCm39)	D1078G	probably damaging	Het
Khdc3	T	C	9: 73,010,519 (GRCm39)	V123A	possibly damaging	Het
Klhl13	A	G	X: 23,127,820 (GRCm39)		probably benign	Het
Klhl42	T	C	6: 146,993,321 (GRCm39)	S98P	probably damaging	Het
Lrp5	T	C	19: 3,670,298 (GRCm39)	N602S	possibly damaging	Het
Lrrd1	A	T	5: 3,901,488 (GRCm39)	I598F	probably damaging	Het
Ltbp1	A	G	17: 75,458,372 (GRCm39)	T318A	probably benign	Het
Mfsd6	A	G	1: 52,748,517 (GRCm39)	F116S	probably damaging	Het
Ncam1	T	C	9: 49,456,492 (GRCm39)	I486V	probably benign	Het
Nptx1	A	G	11: 119,434,006 (GRCm39)		probably null	Het
Nrg1	T	C	8: 32,408,221 (GRCm39)	Y4C	probably damaging	Het
Nsf	G	A	11: 103,773,702 (GRCm39)	R271*	probably null	Het
Or5d39	A	G	2: 87,979,641 (GRCm39)	S241P	possibly damaging	Het
Or8g24	T	A	9: 38,989,580 (GRCm39)	I154F	probably benign	Het
Or8k18	G	C	2: 86,085,440 (GRCm39)	T199S	probably benign	Het
Or8k21	T	A	2: 86,145,504 (GRCm39)	N42I	probably damaging	Het
Or8k24	A	T	2: 86,215,855 (GRCm39)	H302Q	probably benign	Het
Pax2	A	G	19: 44,777,271 (GRCm39)	T155A	probably benign	Het
Pdia4	A	G	6: 47,780,813 (GRCm39)	Y212H	probably damaging	Het
Pgr	A	G	9: 8,946,954 (GRCm39)		probably benign	Het
Pitpnm3	G	T	11: 71,965,450 (GRCm39)	H112N	possibly damaging	Het
Ppargc1b	G	T	18: 61,431,848 (GRCm39)	T1000K	possibly damaging	Het
Psd3	C	A	8: 68,416,139 (GRCm39)	C586F	probably benign	Het
Ptprm	A	T	17: 67,247,575 (GRCm39)	S587T	probably benign	Het
Rabep2	A	T	7: 126,037,736 (GRCm39)	R169S	possibly damaging	Het
Rad21l	T	C	2: 151,497,179 (GRCm39)	R309G	probably benign	Het
Rbm12	T	C	2: 155,939,133 (GRCm39)	R380G	probably damaging	Het
Selp	A	G	1: 163,954,081 (GRCm39)	N127S	probably benign	Het
Slc12a2	A	G	18: 58,012,467 (GRCm39)	T197A	possibly damaging	Het
Sptbn4	T	C	7: 27,065,868 (GRCm39)	E2026G	possibly damaging	Het
Srf	A	T	17: 46,862,633 (GRCm39)	M285K	possibly damaging	Het
Tanc1	T	C	2: 59,622,156 (GRCm39)	V425A	possibly damaging	Het
Tle4	A	T	19: 14,493,721 (GRCm39)		probably null	Het
Tmem132e	A	G	11: 82,335,908 (GRCm39)	R905G	possibly damaging	Het
Tmem200c	A	T	17: 69,147,983 (GRCm39)	I189F	probably damaging	Het
Trappc13	T	C	13: 104,311,150 (GRCm39)	Q87R	probably benign	Het
Trpm7	A	T	2: 126,673,219 (GRCm39)	D511E	probably damaging	Het
Ttn	A	T	2: 76,632,634 (GRCm39)	I14140N	possibly damaging	Het
Virma	A	G	4: 11,513,907 (GRCm39)	D587G	probably benign	Het
Vmn1r72	A	G	7: 11,403,731 (GRCm39)	L239P	probably damaging	Het
Vmn2r68	A	G	7: 84,883,102 (GRCm39)	F217L	probably damaging	Het
Vps13c	T	C	9: 67,881,041 (GRCm39)		probably null	Het
Vrtn	T	C	12: 84,695,973 (GRCm39)	V241A	probably damaging	Het
Xdh	T	C	17: 74,214,653 (GRCm39)	E764G	probably damaging	Het
Zranb3	A	T	1: 127,927,136 (GRCm39)	V343D	probably damaging	Het

Other mutations in Slc22a18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01657:Slc22a18	APN	7	143,052,837 (GRCm39)	missense	probably damaging	1.00
IGL01888:Slc22a18	APN	7	143,033,053 (GRCm39)	missense	probably damaging	1.00
IGL02458:Slc22a18	APN	7	143,046,574 (GRCm39)	splice site	probably benign
IGL02626:Slc22a18	APN	7	143,052,837 (GRCm39)	missense	probably damaging	1.00
PIT4810001:Slc22a18	UTSW	7	143,046,668 (GRCm39)	missense	probably benign	0.00
R0294:Slc22a18	UTSW	7	143,046,578 (GRCm39)	critical splice acceptor site	probably null
R0571:Slc22a18	UTSW	7	143,045,598 (GRCm39)	splice site	probably benign
R1953:Slc22a18	UTSW	7	143,029,984 (GRCm39)	missense	probably damaging	1.00
R2352:Slc22a18	UTSW	7	143,051,152 (GRCm39)	missense	probably benign	0.02
R3900:Slc22a18	UTSW	7	143,033,507 (GRCm39)	missense	probably damaging	1.00
R5317:Slc22a18	UTSW	7	143,052,896 (GRCm39)	missense	probably damaging	1.00
R5428:Slc22a18	UTSW	7	143,033,082 (GRCm39)	missense	probably damaging	1.00
R7672:Slc22a18	UTSW	7	143,044,557 (GRCm39)	missense	probably damaging	1.00
R7684:Slc22a18	UTSW	7	143,044,577 (GRCm39)	missense	probably benign	0.00
R7688:Slc22a18	UTSW	7	143,033,560 (GRCm39)	missense	probably damaging	1.00
R8130:Slc22a18	UTSW	7	143,052,911 (GRCm39)	missense	probably damaging	1.00
R8443:Slc22a18	UTSW	7	143,051,123 (GRCm39)	missense	probably damaging	0.96
R9308:Slc22a18	UTSW	7	143,044,617 (GRCm39)	missense	probably benign	0.13
R9784:Slc22a18	UTSW	7	143,046,678 (GRCm39)	missense	probably benign	0.02
Z1177:Slc22a18	UTSW	7	143,050,779 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTGAAGGTCGAGGTAGCTG -3'
(R):5'- AATGGCCCCAGTTCCTAGGATC -3'

Sequencing Primer
(F):5'- TGAGCTCCACAGTCAGCC -3'
(R):5'- GTTCCTAGGATCCTTAATGTATCCAG -3'

Posted On

2014-08-01