Mutagenetix > Incidental Mutation

Incidental Mutation 'R7672:Slc22a18'

592233

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

Accession Numbers

Essential gene?

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

Stock #

R7672 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

143027502-143053071 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 143044557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 170 (C170F)

Ref Sequence

ENSEMBL: ENSMUSP00000056082 (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: C170F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000056082
Gene: ENSMUSG00000000154
AA Change: C170F

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: C170F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101537
Gene: ENSMUSG00000000154
AA Change: C170F

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 benign
Transcript: ENSMUST00000141988

Predicted Effect

probably benign
Transcript: ENSMUST00000145943

SMART Domains

Protein: ENSMUSP00000115345
Gene: ENSMUSG00000000154

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

Predicted Effect

probably benign
Transcript: ENSMUST00000150791

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	T	C	7: 127,836,191 (GRCm39)	H134R	probably damaging	Het
Adcy4	A	G	14: 56,018,362 (GRCm39)	M195T	probably benign	Het
Aktip	T	C	8: 91,856,285 (GRCm39)	N64S	possibly damaging	Het
Aldoart1	C	A	4: 72,770,747 (GRCm39)	M20I	probably benign	Het
Alms1	T	C	6: 85,592,333 (GRCm39)	L395P	probably damaging	Het
Ankrd9	C	A	12: 110,943,180 (GRCm39)	V252F	probably benign	Het
Apof	A	T	10: 128,104,885 (GRCm39)	H13L	probably benign	Het
Bahcc1	T	C	11: 120,174,172 (GRCm39)	F1644S	possibly damaging	Het
Baz2a	A	G	10: 127,959,726 (GRCm39)	D1377G	possibly damaging	Het
Bbox1	T	A	2: 110,135,794 (GRCm39)	I62F	probably damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	TCTGTGGTCACTGGT	TCTGTGGTCACTGGTGCTGTGGTCACTGGT	3: 95,795,487 (GRCm39)		probably benign	Het
BC028528	GTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTG	GTTCTGTGGTCACTGATTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTG	3: 95,795,455 (GRCm39)		probably benign	Het
Bcas3	C	T	11: 85,286,213 (GRCm39)	R124*	probably null	Het
Bpnt1	T	C	1: 185,078,879 (GRCm39)	V114A	probably damaging	Het
Ccnd1	C	T	7: 144,487,793 (GRCm39)	R228H	possibly damaging	Het
Cd244a	T	C	1: 171,404,853 (GRCm39)	V235A	probably benign	Het
Cramp1	C	T	17: 25,201,440 (GRCm39)	E681K	probably damaging	Het
Crebbp	C	T	16: 3,902,574 (GRCm39)	A2222T	probably benign	Het
Cyp1a2	T	A	9: 57,589,620 (GRCm39)	T65S	probably benign	Het
Cyp26b1	T	G	6: 84,561,351 (GRCm39)	K104Q	probably benign	Het
D430041D05Rik	T	C	2: 104,071,581 (GRCm39)	I556V	probably benign	Het
Dnase1l2	A	G	17: 24,661,219 (GRCm39)	L102P	probably damaging	Het
Eef1ece2	C	A	16: 20,457,417 (GRCm39)	A483E	probably damaging	Het
Elac1	C	T	18: 73,871,925 (GRCm39)	G357S	probably benign	Het
Enam	C	A	5: 88,651,830 (GRCm39)	T1113N	possibly damaging	Het
Eogt	A	T	6: 97,090,870 (GRCm39)	I423N	probably damaging	Het
Epc2	T	C	2: 49,435,831 (GRCm39)	S612P	possibly damaging	Het
Fam107b	T	C	2: 3,773,959 (GRCm39)	V24A	probably damaging	Het
Fhip2a	A	G	19: 57,373,750 (GRCm39)	H670R	possibly damaging	Het
Foxj3	C	T	4: 119,477,429 (GRCm39)	P413L	unknown	Het
Frg1	T	C	8: 41,870,040 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,820,455 (GRCm39)	V5396D	possibly damaging	Het
Hdlbp	T	C	1: 93,364,821 (GRCm39)	T149A	possibly damaging	Het
Heatr1	A	T	13: 12,453,545 (GRCm39)	Q2140L	probably damaging	Het
Iqcd	T	C	5: 120,744,881 (GRCm39)	L403P	probably damaging	Het
Kifbp	A	G	10: 62,413,852 (GRCm39)	I102T	probably benign	Het
Kpna2	T	G	11: 106,879,789 (GRCm39)	N505T	probably benign	Het
Lipo3	T	A	19: 33,757,785 (GRCm39)	E228V	probably benign	Het
Map4k3	C	T	17: 80,922,500 (GRCm39)	V474I	possibly damaging	Het
Mrpl11	T	C	19: 5,012,424 (GRCm39)	S2P	probably damaging	Het
Mug2	A	G	6: 122,017,678 (GRCm39)	I472V	probably benign	Het
Myom1	G	A	17: 71,391,235 (GRCm39)	V915M	possibly damaging	Het
Nedd9	A	T	13: 41,492,198 (GRCm39)	I104N	possibly damaging	Het
Nphp3	A	G	9: 103,909,159 (GRCm39)	M790V	probably benign	Het
Nr3c2	C	T	8: 77,635,838 (GRCm39)	P313L	probably damaging	Het
Obsl1	A	G	1: 75,469,365 (GRCm39)	V1192A	probably benign	Het
Or10j2	C	T	1: 173,098,440 (GRCm39)	R233W	probably benign	Het
Or52e7	A	G	7: 104,684,750 (GRCm39)	H115R	probably damaging	Het
Or5t16	T	C	2: 86,818,663 (GRCm39)	I286V	possibly damaging	Het
Prr5l	T	G	2: 101,565,083 (GRCm39)	E151A	probably damaging	Het
Psmb8	G	T	17: 34,417,404 (GRCm39)	R11L	probably benign	Het
Ptprg	T	A	14: 12,211,668 (GRCm38)	H983Q	probably benign	Het
Ptprj	T	C	2: 90,290,940 (GRCm39)	N600D	possibly damaging	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rc3h1	A	G	1: 160,778,454 (GRCm39)	S460G	probably damaging	Het
Rhot2	A	G	17: 26,062,079 (GRCm39)		probably null	Het
Sall1	T	C	8: 89,757,927 (GRCm39)	T726A	probably damaging	Het
Samd9l	G	A	6: 3,373,646 (GRCm39)	T1205I	probably benign	Het
Sh2b3	C	T	5: 121,956,822 (GRCm39)		probably null	Het
Slc24a1	G	A	9: 64,855,209 (GRCm39)	T566I	unknown	Het
Slc4a5	T	A	6: 83,237,517 (GRCm39)	C167S	probably damaging	Het
Slc8b1	T	G	5: 120,671,100 (GRCm39)	V579G	probably damaging	Het
Snrnp200	T	C	2: 127,063,822 (GRCm39)	V667A	probably damaging	Het
Sp8	C	A	12: 118,813,070 (GRCm39)	S308R	possibly damaging	Het
Srsf9	T	A	5: 115,468,619 (GRCm39)	V85E	probably damaging	Het
Syne1	T	C	10: 5,168,527 (GRCm39)	I5285V	probably benign	Het
Tmem245	T	C	4: 56,947,069 (GRCm39)	I115V	probably benign	Het
Triqk	A	G	4: 12,980,502 (GRCm39)	D82G	probably benign	Het
Trmt11	A	T	10: 30,463,520 (GRCm39)	S198R	probably damaging	Het
Ube4b	C	T	4: 149,471,661 (GRCm39)	R75Q	probably benign	Het
Ugt3a1	C	T	15: 9,310,779 (GRCm39)	Q354*	probably null	Het
Vmn1r202	A	G	13: 22,685,850 (GRCm39)	V189A	probably benign	Het
Vmn2r26	A	G	6: 124,016,606 (GRCm39)	I357V	probably benign	Het
Wdr6	T	C	9: 108,450,947 (GRCm39)	K914R	probably benign	Het
Zfat	T	C	15: 68,130,535 (GRCm39)	M1V	probably null	Het
Zfp207	A	G	11: 80,280,116 (GRCm39)	M171V	probably benign	Het
Zfp568	C	T	7: 29,697,212 (GRCm39)	T44I	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
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
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'- TCTGCCATTTGCTAAATGTGC -3'
(R):5'- GAGGAGATCACATTCCCTCTTTG -3'

Sequencing Primer
(F):5'- ATGTGCTTTAAGGGATCAAGTAGC -3'
(R):5'- TGAACCCCATGTCTGTCAGG -3'

Posted On

2019-11-12