Mutagenetix > Incidental Mutation

Incidental Mutation 'R5945:Slc22a4'

460563

Institutional Source

Beutler Lab

Gene Symbol

Slc22a4

Ensembl Gene

ENSMUSG00000020334

Gene Name

solute carrier family 22 (organic cation transporter), member 4

Synonyms

Octn1

MMRRC Submission

044137-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R5945 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53873949-53918916 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53886854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 296 (I296N)

Ref Sequence

ENSEMBL: ENSMUSP00000020586 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020586]

AlphaFold

Q9Z306

Predicted Effect

probably damaging
Transcript: ENSMUST00000020586
AA Change: I296N

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

SMART Domains

Protein: ENSMUSP00000020586
Gene: ENSMUSG00000020334
AA Change: I296N

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Sugar_tr	60	524	2.7e-30	PFAM
Pfam:MFS_1	139	478	1.7e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146351

Meta Mutation Damage Score

0.5402

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

100% (101/101)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is an organic cation transporter and plasma integral membrane protein containing eleven putative transmembrane domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete loss of ergothioneine with reduced absorption and increased excretion and increased susceptibility of small intestine to inflammation following ischemia and reperfusion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930488N24Rik	T	C	17: 14,326,601 (GRCm39)		noncoding transcript	Het
Abca13	C	T	11: 9,243,398 (GRCm39)	H1754Y	probably benign	Het
Abi1	T	C	2: 22,929,977 (GRCm39)	E34G	probably damaging	Het
Apobec3	C	T	15: 79,782,047 (GRCm39)	T19I	probably damaging	Het
Arel1	C	A	12: 84,973,121 (GRCm39)	V559L	probably benign	Het
Arhgef10	T	C	8: 15,030,028 (GRCm39)		probably null	Het
Asb6	T	C	2: 30,718,215 (GRCm39)		probably benign	Het
Asxl2	T	C	12: 3,550,439 (GRCm39)	V727A	possibly damaging	Het
Atp13a5	C	A	16: 29,055,995 (GRCm39)	R1100L	probably benign	Het
Atp6v1a	A	G	16: 43,920,309 (GRCm39)	V429A	probably damaging	Het
Caml	A	G	13: 55,776,445 (GRCm39)	Y228C	probably damaging	Het
Ccdc14	A	G	16: 34,543,958 (GRCm39)	E772G	probably damaging	Het
Ccdc96	A	G	5: 36,643,194 (GRCm39)	E400G	probably damaging	Het
Ces1h	T	A	8: 94,090,254 (GRCm39)	E266V	probably benign	Het
Chd5	G	T	4: 152,464,408 (GRCm39)	Q1522H	probably benign	Het
CN725425	T	A	15: 91,129,980 (GRCm39)	I281N	possibly damaging	Het
Cngb3	A	T	4: 19,283,579 (GRCm39)	E62V	probably null	Het
Cops5	T	A	1: 10,108,235 (GRCm39)		probably benign	Het
Crhr2	T	A	6: 55,077,667 (GRCm39)	I232F	possibly damaging	Het
Cxcl3	C	T	5: 90,934,175 (GRCm39)		probably benign	Het
Ddx31	T	A	2: 28,749,902 (GRCm39)	I308N	probably damaging	Het
Efcab14	T	A	4: 115,613,664 (GRCm39)	V204D	probably damaging	Het
Emsy	T	C	7: 98,268,590 (GRCm39)	T484A	probably damaging	Het
Ep400	A	T	5: 110,830,732 (GRCm39)	I2257N	unknown	Het
Epb41l4a	T	A	18: 33,961,783 (GRCm39)	Q420L	possibly damaging	Het
Fat4	A	G	3: 39,037,355 (GRCm39)	D3669G	probably benign	Het
Fmnl2	C	A	2: 53,004,211 (GRCm39)	T607K	probably damaging	Het
Glod4	T	C	11: 76,125,297 (GRCm39)	Y135C	probably damaging	Het
Gm10912	A	G	2: 103,896,961 (GRCm39)	I33M	possibly damaging	Het
Gm5592	T	C	7: 40,865,036 (GRCm39)		probably benign	Het
Gria4	A	G	9: 4,456,122 (GRCm39)	L726P	probably damaging	Het
H2-M10.4	T	C	17: 36,771,518 (GRCm39)	E220G	probably benign	Het
Itga1	T	G	13: 115,103,126 (GRCm39)	N1102H	probably benign	Het
Itpk1	A	G	12: 102,554,812 (GRCm39)	I6T	probably damaging	Het
Kcnh4	T	C	11: 100,636,148 (GRCm39)	D833G	probably damaging	Het
Kdm1a	T	C	4: 136,296,012 (GRCm39)		probably null	Het
Kif24	G	A	4: 41,428,670 (GRCm39)	Q97*	probably null	Het
Klhl2	T	C	8: 65,202,762 (GRCm39)	I479V	probably benign	Het
Large1	T	C	8: 73,578,828 (GRCm39)	Y459C	probably damaging	Het
Lcn8	T	G	2: 25,545,509 (GRCm39)	L169R	probably damaging	Het
Loxl3	T	G	6: 83,014,492 (GRCm39)	S133R	probably damaging	Het
Lyzl4	A	G	9: 121,413,529 (GRCm39)	Y4H	unknown	Het
Marchf7	A	G	2: 60,071,331 (GRCm39)	K612E	probably damaging	Het
Mreg	C	T	1: 72,231,359 (GRCm39)	G33D	probably benign	Het
Ms4a6c	A	C	19: 11,457,863 (GRCm39)		probably benign	Het
Nrbf2	G	A	10: 67,103,299 (GRCm39)	S268F	possibly damaging	Het
Oog4	T	A	4: 143,164,293 (GRCm39)	I341F	probably benign	Het
Or4k5	A	G	14: 50,386,220 (GRCm39)	V37A	probably benign	Het
Or5h26	A	G	16: 58,988,482 (GRCm39)	L8P	probably benign	Het
Or5h27	C	T	16: 59,006,091 (GRCm39)	V252I	unknown	Het
Or5l14	A	T	2: 87,792,946 (GRCm39)	C97S	probably damaging	Het
Pcdhb5	G	A	18: 37,454,523 (GRCm39)	R301Q	probably benign	Het
Podn	T	C	4: 107,878,910 (GRCm39)	K174R	possibly damaging	Het
Pphln1	T	C	15: 93,353,413 (GRCm39)		probably null	Het
Ppp2r1a	C	G	17: 21,179,675 (GRCm39)	H112D	possibly damaging	Het
Prmt5	A	G	14: 54,752,344 (GRCm39)	F151L	possibly damaging	Het
Ptch1	A	T	13: 63,721,233 (GRCm39)		probably benign	Het
Rgl2	A	G	17: 34,151,012 (GRCm39)		probably null	Het
Ryr2	A	T	13: 11,675,008 (GRCm39)	I3373N	probably damaging	Het
Scap	A	G	9: 110,213,664 (GRCm39)	N1209S	probably benign	Het
Sin3b	T	C	8: 73,457,793 (GRCm39)	S170P	probably damaging	Het
Slco1a8	T	A	6: 141,940,008 (GRCm39)	N145I	probably damaging	Het
Slco2a1	T	C	9: 102,923,989 (GRCm39)	S68P	probably damaging	Het
Snx8	A	G	5: 140,339,235 (GRCm39)	C161R	probably benign	Het
Spryd3	C	T	15: 102,026,630 (GRCm39)	C347Y	probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Strn3	T	C	12: 51,676,279 (GRCm39)	T333A	probably benign	Het
Swt1	T	A	1: 151,286,921 (GRCm39)	E190D	probably benign	Het
Tchh	A	T	3: 93,352,644 (GRCm39)	I695F	unknown	Het
Tfap4	G	A	16: 4,363,493 (GRCm39)	S314L	possibly damaging	Het
Tigd3	G	T	19: 5,941,894 (GRCm39)	T412K	probably benign	Het
Tmem184b	T	A	15: 79,249,681 (GRCm39)		probably null	Het
Trpa1	T	C	1: 14,968,359 (GRCm39)	D469G	probably benign	Het
Tssk1	T	C	16: 17,712,565 (GRCm39)	F117L	probably damaging	Het
Tuba3b	T	A	6: 145,565,471 (GRCm39)	M313K	probably damaging	Het
Tubgcp6	T	C	15: 88,993,420 (GRCm39)		probably null	Het
Vav1	A	G	17: 57,608,870 (GRCm39)	K345E	possibly damaging	Het
Zdhhc4	G	A	5: 143,310,641 (GRCm39)	R64C	probably damaging	Het
Zfp280d	T	A	9: 72,269,614 (GRCm39)	L892*	probably null	Het
Zfp46	T	A	4: 136,014,528 (GRCm39)	M3K	probably damaging	Het
Zfp607b	C	A	7: 27,401,841 (GRCm39)	P99Q	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp990	T	A	4: 145,264,613 (GRCm39)	I537N	probably damaging	Het

Other mutations in Slc22a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01459:Slc22a4	APN	11	53,877,303 (GRCm39)	critical splice donor site	probably null
IGL01723:Slc22a4	APN	11	53,879,671 (GRCm39)	missense	probably benign	0.28
IGL01839:Slc22a4	APN	11	53,886,903 (GRCm39)	missense	probably damaging	0.98
IGL02022:Slc22a4	APN	11	53,874,435 (GRCm39)	unclassified	probably benign
IGL02386:Slc22a4	APN	11	53,879,598 (GRCm39)	splice site	probably benign
PIT1430001:Slc22a4	UTSW	11	53,918,783 (GRCm39)	missense	probably benign
R0001:Slc22a4	UTSW	11	53,918,829 (GRCm39)	start gained	probably benign
R1111:Slc22a4	UTSW	11	53,898,667 (GRCm39)	missense	probably benign
R1710:Slc22a4	UTSW	11	53,918,801 (GRCm39)	start codon destroyed	probably null	0.99
R2104:Slc22a4	UTSW	11	53,874,436 (GRCm39)	unclassified	probably benign
R3081:Slc22a4	UTSW	11	53,898,615 (GRCm39)	missense	probably benign	0.38
R3498:Slc22a4	UTSW	11	53,882,879 (GRCm39)	missense	probably benign	0.00
R4014:Slc22a4	UTSW	11	53,888,218 (GRCm39)	missense	probably benign	0.04
R4658:Slc22a4	UTSW	11	53,888,336 (GRCm39)	missense	probably benign	0.05
R4720:Slc22a4	UTSW	11	53,879,719 (GRCm39)	missense	probably damaging	1.00
R4727:Slc22a4	UTSW	11	53,918,477 (GRCm39)	missense	possibly damaging	0.83
R5894:Slc22a4	UTSW	11	53,888,341 (GRCm39)	missense	probably benign	0.04
R6295:Slc22a4	UTSW	11	53,898,634 (GRCm39)	missense	possibly damaging	0.46
R6848:Slc22a4	UTSW	11	53,898,615 (GRCm39)	missense	possibly damaging	0.90
R6899:Slc22a4	UTSW	11	53,879,739 (GRCm39)	missense	probably damaging	1.00
R7343:Slc22a4	UTSW	11	53,877,364 (GRCm39)	missense	possibly damaging	0.53
R7414:Slc22a4	UTSW	11	53,888,254 (GRCm39)	missense	probably benign	0.00
R7806:Slc22a4	UTSW	11	53,881,476 (GRCm39)	missense	probably damaging	1.00
R8068:Slc22a4	UTSW	11	53,888,269 (GRCm39)	missense	possibly damaging	0.89
R8087:Slc22a4	UTSW	11	53,886,887 (GRCm39)	missense	possibly damaging	0.80
R8218:Slc22a4	UTSW	11	53,877,407 (GRCm39)	missense	probably benign	0.00
R8971:Slc22a4	UTSW	11	53,879,718 (GRCm39)	missense	probably damaging	0.99
R9008:Slc22a4	UTSW	11	53,881,664 (GRCm39)	nonsense	probably null
R9296:Slc22a4	UTSW	11	53,888,217 (GRCm39)	nonsense	probably null
R9484:Slc22a4	UTSW	11	53,879,773 (GRCm39)	missense	possibly damaging	0.94
R9679:Slc22a4	UTSW	11	53,881,599 (GRCm39)	missense	probably damaging	1.00
Z1177:Slc22a4	UTSW	11	53,918,544 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTGGTATATTGTGGGCATTTAAC -3'
(R):5'- CCTCCATTTCTTGTAGGCAGG -3'

Sequencing Primer
(F):5'- GCATTTAACAGGTAGCGAGTTACAC -3'
(R):5'- GTAGGCAGGATAAATTTTGGGTC -3'

Posted On

2017-02-28