Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4810001:Slc22a18'

556847

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: 0.063) question?

Stock #

PIT4810001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

143027502-143053071 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143046668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 271 (I271V)

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 benign
Transcript: ENSMUST00000052348
AA Change: I271V

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

SMART Domains

Protein: ENSMUSP00000056082
Gene: ENSMUSG00000000154
AA Change: I271V

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 benign
Transcript: ENSMUST00000105917
AA Change: I271V

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

SMART Domains

Protein: ENSMUSP00000101537
Gene: ENSMUSG00000000154
AA Change: I271V

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: 93.8%
3x: 91.1%
10x: 85.1%
20x: 72.2%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	G	16: 90,852,822 (GRCm39)	S105P	probably damaging	Het
Adtrp	C	T	13: 41,981,724 (GRCm39)	W48*	probably null	Het
Agxt2	A	T	15: 10,399,151 (GRCm39)	M413L	probably benign	Het
Ahnak2	T	A	12: 112,749,214 (GRCm39)	D211V		Het
Aplnr	T	A	2: 84,967,628 (GRCm39)	C218S	probably damaging	Het
Arhgdib	T	A	6: 136,901,162 (GRCm39)	E189V	probably damaging	Het
Atp10a	T	C	7: 58,463,596 (GRCm39)	I1043T	probably damaging	Het
Atp13a5	C	T	16: 29,133,382 (GRCm39)	C468Y	probably damaging	Het
Cars2	A	T	8: 11,564,699 (GRCm39)	C459S	probably benign	Het
Ccr3	T	A	9: 123,829,645 (GRCm39)	Y327N	probably benign	Het
Ceacam1	T	A	7: 25,171,400 (GRCm39)	I355F	probably damaging	Het
Celsr3	T	C	9: 108,722,932 (GRCm39)	L2773P	probably damaging	Het
Ces2g	A	T	8: 105,691,521 (GRCm39)	H192L	possibly damaging	Het
Cfap157	A	G	2: 32,671,444 (GRCm39)	F121L	probably damaging	Het
Champ1	G	A	8: 13,929,234 (GRCm39)	S464N	probably benign	Het
Clasp2	T	A	9: 113,735,135 (GRCm39)	L990Q	probably damaging	Het
Col6a3	A	T	1: 90,706,516 (GRCm39)	L2806Q	unknown	Het
Cpz	T	C	5: 35,665,536 (GRCm39)	E435G	possibly damaging	Het
Crbn	T	A	6: 106,761,440 (GRCm39)	R233*	probably null	Het
Ctc1	C	T	11: 68,913,352 (GRCm39)	T116I	probably benign	Het
Cyp4f17	T	C	17: 32,743,574 (GRCm39)	S314P	possibly damaging	Het
Dmxl1	A	G	18: 50,065,030 (GRCm39)	E2625G	probably damaging	Het
Dock7	T	A	4: 98,833,796 (GRCm39)	R1874*	probably null	Het
E130311K13Rik	A	T	3: 63,823,122 (GRCm39)	L174*	probably null	Het
Etnppl	A	G	3: 130,414,363 (GRCm39)	D86G	probably benign	Het
Fbxw18	C	A	9: 109,505,958 (GRCm39)	E438*	probably null	Het
Gpatch8	T	C	11: 102,372,668 (GRCm39)	N290S	unknown	Het
Gpr155	A	C	2: 73,178,607 (GRCm39)	L727R	probably benign	Het
Gpr158	C	G	2: 21,831,682 (GRCm39)	D927E	probably benign	Het
Igsf10	T	C	3: 59,225,903 (GRCm39)	Y2590C	probably damaging	Het
Ints7	A	G	1: 191,328,348 (GRCm39)	D207G	probably damaging	Het
Iqsec1	A	G	6: 90,647,473 (GRCm39)	L743P	probably damaging	Het
Kansl1l	A	T	1: 66,801,308 (GRCm39)	S553T	probably damaging	Het
Klhl14	G	T	18: 21,690,880 (GRCm39)	Y523*	probably null	Het
Krtap14	A	G	16: 88,622,515 (GRCm39)	S155P	probably damaging	Het
Lrrc3b	A	G	14: 15,358,273 (GRCm38)	V111A	probably benign	Het
Maml2	A	G	9: 13,531,320 (GRCm39)	N178S		Het
Megf8	G	A	7: 25,041,710 (GRCm39)	C1208Y	probably damaging	Het
Mocos	A	G	18: 24,819,759 (GRCm39)	D667G	probably damaging	Het
Nid2	A	G	14: 19,860,158 (GRCm39)	T1359A	possibly damaging	Het
Nup210	T	C	6: 91,007,106 (GRCm39)	E1357G	probably damaging	Het
Or2d2	A	T	7: 106,727,766 (GRCm39)	M278K	probably benign	Het
Or4a2	A	T	2: 89,248,297 (GRCm39)	H153Q	probably damaging	Het
Or9s15	T	A	1: 92,524,876 (GRCm39)	F212I	probably benign	Het
Pign	A	G	1: 105,525,487 (GRCm39)	V447A	possibly damaging	Het
Pomp	T	C	5: 147,806,229 (GRCm39)	L57P	probably benign	Het
Pou2af2	C	T	9: 51,202,992 (GRCm39)	G54D	possibly damaging	Het
Rbms3	T	A	9: 116,885,861 (GRCm39)	Y128F	probably damaging	Het
Slc12a4	A	G	8: 106,678,228 (GRCm39)	F322L	probably benign	Het
Slc16a9	T	A	10: 70,119,762 (GRCm39)	C468*	probably null	Het
Slc25a41	A	G	17: 57,346,933 (GRCm39)	V20A	possibly damaging	Het
Smim7	A	T	8: 73,324,857 (GRCm39)	L6Q	probably damaging	Het
Snx29	T	C	16: 11,218,845 (GRCm39)	V227A	probably damaging	Het
Sowaha	A	T	11: 53,369,290 (GRCm39)	L482Q	probably damaging	Het
Srp19	A	G	18: 34,467,523 (GRCm39)	Y68C	probably damaging	Het
Tecr	A	G	8: 84,298,884 (GRCm39)	S298P	probably damaging	Het
Terb2	T	A	2: 122,035,379 (GRCm39)	I200N	probably damaging	Het
Togaram1	G	A	12: 65,030,286 (GRCm39)	S1030N	probably damaging	Het
Trav7n-4	A	G	14: 53,329,193 (GRCm39)	M68V	probably benign	Het
Tshz1	A	C	18: 84,031,375 (GRCm39)	L1011R	possibly damaging	Het
Tubb3	A	G	8: 124,148,396 (GRCm39)	E443G	possibly damaging	Het
Uba5	A	T	9: 103,932,396 (GRCm39)	I189K	probably damaging	Het
Vasn	A	G	16: 4,467,909 (GRCm39)	T619A	probably benign	Het
Wbp1l	A	G	19: 46,642,761 (GRCm39)	D254G	probably benign	Het
Zzef1	T	C	11: 72,741,571 (GRCm39)	F738L	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
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
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'- TCTATAGAGTCCCAGGTGGTG -3'
(R):5'- ACATGTTGTAGGATGGAGAGCC -3'

Sequencing Primer
(F):5'- ATGTCCTCGATAGTCAGGCAAGTC -3'
(R):5'- CCAGGAGCTGAGTGTTTTCTCTC -3'

Posted On

2019-06-07