Mutagenetix > Incidental Mutation

Incidental Mutation 'R1953:Slc22a18'

217477

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

039967-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R1953 (G1)

Quality Score

202

Status

Not 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: 96.9%
20x: 94.4%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	A	T	11: 80,268,772 (GRCm39)	D12E	probably damaging	Het
Abca15	C	T	7: 119,960,655 (GRCm39)	R706C	probably damaging	Het
Actr1a	G	A	19: 46,369,387 (GRCm39)	S209F	probably benign	Het
Adcy1	A	G	11: 7,028,991 (GRCm39)	N247S	probably benign	Het
Anapc4	T	C	5: 52,997,030 (GRCm39)	L101S	probably damaging	Het
Asap3	C	T	4: 135,954,767 (GRCm39)	R60*	probably null	Het
Ascc3	T	C	10: 50,721,726 (GRCm39)	S2060P	probably benign	Het
Atp9b	G	A	18: 80,797,522 (GRCm39)	T851I	possibly damaging	Het
Borcs5	A	G	6: 134,687,230 (GRCm39)	H196R	unknown	Het
Bpifb9b	A	C	2: 154,153,234 (GRCm39)	D100A	probably damaging	Het
Cant1	G	C	11: 118,299,609 (GRCm39)	P247A	probably damaging	Het
Capza3	A	T	6: 139,988,294 (GRCm39)	I298L	possibly damaging	Het
Cdh10	T	C	15: 18,966,997 (GRCm39)		probably null	Het
Celsr3	T	C	9: 108,720,381 (GRCm39)	V2551A	probably benign	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Cmtr2	T	C	8: 110,948,551 (GRCm39)	L287P	probably damaging	Het
Crebbp	G	A	16: 3,997,313 (GRCm39)	T257I	probably benign	Het
Crispld2	G	A	8: 120,742,035 (GRCm39)	V128M	probably damaging	Het
Crnkl1	G	A	2: 145,770,120 (GRCm39)	A241V	probably damaging	Het
Dmd	T	A	X: 82,874,123 (GRCm39)	I1342N	probably damaging	Het
Dnah10	A	G	5: 124,859,332 (GRCm39)	T2043A	probably benign	Het
Dscaml1	C	T	9: 45,581,522 (GRCm39)	T447I	probably benign	Het
Eif2ak3	A	G	6: 70,869,538 (GRCm39)	T742A	probably benign	Het
Farp1	A	G	14: 121,492,894 (GRCm39)	T499A	probably benign	Het
Fcgr1	G	A	3: 96,194,386 (GRCm39)	T167I	probably damaging	Het
Fgd5	C	A	6: 92,001,611 (GRCm39)	H935Q	probably benign	Het
Fhl4	A	T	10: 84,934,171 (GRCm39)	D203E	probably benign	Het
Gapt	T	G	13: 110,490,340 (GRCm39)	T108P	probably damaging	Het
Gpt2	A	G	8: 86,248,013 (GRCm39)	T419A	probably benign	Het
Gucy2c	A	G	6: 136,681,291 (GRCm39)	V907A	probably damaging	Het
Hmbs	T	C	9: 44,248,741 (GRCm39)	D211G	probably damaging	Het
Irx5	A	G	8: 93,086,438 (GRCm39)	N174D	probably damaging	Het
Itfg1	A	G	8: 86,557,860 (GRCm39)	V170A	probably benign	Het
Itga2b	T	A	11: 102,349,009 (GRCm39)	T732S	probably benign	Het
Klhl3	A	G	13: 58,159,022 (GRCm39)	Y546H	probably damaging	Het
Lama5	G	A	2: 179,832,540 (GRCm39)	H1670Y	possibly damaging	Het
Mlst8	AT	ATT	17: 24,696,987 (GRCm39)		probably null	Het
Nbeal1	T	C	1: 60,273,999 (GRCm39)	V409A	probably damaging	Het
Nlgn1	T	A	3: 25,490,464 (GRCm39)	D421V	probably damaging	Het
Nlrp10	T	C	7: 108,524,325 (GRCm39)	D385G	probably benign	Het
Nr2e3	T	A	9: 59,857,079 (GRCm39)	D30V	probably benign	Het
Nyap1	A	G	5: 137,733,294 (GRCm39)	S580P	probably benign	Het
Or4c108	G	A	2: 88,804,224 (GRCm39)	Q4*	probably null	Het
Or4c12	A	G	2: 89,774,267 (GRCm39)	L64P	probably damaging	Het
Or4e2	T	A	14: 52,688,344 (GRCm39)	V158E	probably benign	Het
Pex1	A	G	5: 3,680,038 (GRCm39)	H952R	probably damaging	Het
Plin4	T	A	17: 56,410,849 (GRCm39)	I1061F	possibly damaging	Het
Pnkp	C	A	7: 44,512,026 (GRCm39)	R517S	probably benign	Het
Polr2e	T	A	10: 79,874,388 (GRCm39)	E39D	probably benign	Het
Pramel18	T	C	4: 101,767,312 (GRCm39)	I187T	probably benign	Het
Prokr1	T	C	6: 87,565,575 (GRCm39)	Y90C	probably benign	Het
Ptprm	A	T	17: 67,247,575 (GRCm39)	S587T	probably benign	Het
Rere	G	A	4: 150,701,294 (GRCm39)	E1225K	probably damaging	Het
Rsl24d1	G	T	9: 73,021,896 (GRCm39)		probably benign	Het
Selp	A	G	1: 163,954,081 (GRCm39)	N127S	probably benign	Het
Smad2	A	G	18: 76,395,776 (GRCm39)	T72A	possibly damaging	Het
Snx29	G	A	16: 11,217,647 (GRCm39)	W149*	probably null	Het
Stk31	G	T	6: 49,423,412 (GRCm39)		probably null	Het
Sult1e1	T	G	5: 87,735,530 (GRCm39)		probably null	Het
Syngap1	G	A	17: 27,163,661 (GRCm39)	R41H	possibly damaging	Het
Tbc1d17	T	A	7: 44,490,822 (GRCm39)		probably null	Het
Tex55	G	T	16: 38,648,275 (GRCm39)	T278K	possibly damaging	Het
Tie1	A	T	4: 118,329,987 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Usp47	T	A	7: 111,692,083 (GRCm39)	D848E	probably benign	Het
Vmn1r72	A	G	7: 11,403,731 (GRCm39)	L239P	probably damaging	Het
Vmn2r124	T	C	17: 18,283,122 (GRCm39)	I272T	probably benign	Het
Vwa1	C	T	4: 155,857,571 (GRCm39)	V76M	probably damaging	Het
Xrn1	G	T	9: 95,906,274 (GRCm39)		probably null	Het
Zfp667	G	T	7: 6,308,087 (GRCm39)	V252F	probably benign	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
R1951: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'- ACTCTTGAAGGTCGAGGTAGC -3'
(R):5'- ATCAATGGCCCCAGTTCCTAG -3'

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

Posted On

2014-08-01