Mutagenetix > Incidental Mutation

Incidental Mutation 'R6521:Slc22a14'

521285

Institutional Source

Beutler Lab

Gene Symbol

Slc22a14

Ensembl Gene

ENSMUSG00000070280

Gene Name

solute carrier family 22 (organic cation transporter), member 14

Synonyms

LOC382113

MMRRC Submission

044647-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R6521 (G1)

Quality Score

144.008

Status

Validated

Chromosome

Chromosomal Location

118998521-119019496 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 119049835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131982 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170400] [ENSMUST00000173185]

AlphaFold

Q497L9

Predicted Effect

probably null
Transcript: ENSMUST00000170400

SMART Domains

Protein: ENSMUSP00000131982
Gene: ENSMUSG00000070280

Domain	Start	End	E-Value	Type
transmembrane domain	68	90	N/A	INTRINSIC
Pfam:Sugar_tr	150	555	1.2e-28	PFAM
Pfam:MFS_1	178	514	7.6e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173185

SMART Domains

Protein: ENSMUSP00000134667
Gene: ENSMUSG00000092212

Domain	Start	End	E-Value	Type
transmembrane domain	22	44	N/A	INTRINSIC
Pfam:MFS_1	141	349	3.4e-12	PFAM
Pfam:Sugar_tr	162	333	7e-9	PFAM

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

Validation Efficiency

100% (48/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 3. The encoded protein is a transmembrane protein which is thought to transport small molecules and since this protein is conserved among several species, it is suggested to have a fundamental role in mammalian systems. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	A	8: 111,769,968 (GRCm39)	S356T	probably benign	Het
Acsbg2	T	C	17: 57,168,565 (GRCm39)	M185V	probably benign	Het
Adgrv1	A	T	13: 81,581,771 (GRCm39)	F4758I	probably damaging	Het
Ank3	A	G	10: 69,828,596 (GRCm39)		probably benign	Het
Ankfy1	G	A	11: 72,621,308 (GRCm39)	R198Q	possibly damaging	Het
Ano4	A	G	10: 88,819,640 (GRCm39)	V537A	probably damaging	Het
Catsper2	A	G	2: 121,237,288 (GRCm39)	L204P	probably damaging	Het
Cdh20	A	C	1: 104,869,859 (GRCm39)	D193A	probably damaging	Het
Ceacam5	T	C	7: 17,484,756 (GRCm39)		probably null	Het
Celf4	T	A	18: 25,612,531 (GRCm39)		probably null	Het
Cfap91	A	G	16: 38,127,121 (GRCm39)	V545A	probably benign	Het
Crebbp	A	T	16: 3,936,992 (GRCm39)	F754I	probably damaging	Het
Cyfip2	A	T	11: 46,145,415 (GRCm39)	I635N	probably damaging	Het
Erbb4	T	A	1: 68,081,689 (GRCm39)	D1131V	probably damaging	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Hoxc8	G	A	15: 102,901,135 (GRCm39)	V193M	probably benign	Het
Klhdc3	A	G	17: 46,988,687 (GRCm39)	V124A	probably benign	Het
Klhl18	A	G	9: 110,257,703 (GRCm39)	I509T	possibly damaging	Het
Mdfic	T	A	6: 15,729,027 (GRCm39)		probably benign	Het
Mkln1	T	A	6: 31,467,479 (GRCm39)	D64E	probably damaging	Het
Mmd2	A	G	5: 142,560,585 (GRCm39)	I112T	probably damaging	Het
Mpl	C	T	4: 118,312,314 (GRCm39)		probably null	Het
Mtmr4	A	G	11: 87,504,353 (GRCm39)	T1044A	possibly damaging	Het
Muc5b	C	A	7: 141,412,908 (GRCm39)	Y1951*	probably null	Het
Myo15a	C	T	11: 60,393,195 (GRCm39)	H2240Y	probably damaging	Het
Nckap5	A	T	1: 126,309,909 (GRCm39)	I74K	probably damaging	Het
Nfxl1	A	T	5: 72,697,651 (GRCm39)		probably null	Het
Or11j4	T	C	14: 50,631,005 (GRCm39)	V264A	possibly damaging	Het
Or2ah1	A	T	2: 85,653,794 (GRCm39)	I160F	probably benign	Het
Or4c11c	A	G	2: 88,661,700 (GRCm39)	I80V	probably benign	Het
Or8d2	C	T	9: 38,759,893 (GRCm39)	T161I	probably benign	Het
Piezo2	T	C	18: 63,154,399 (GRCm39)	Y2460C	probably damaging	Het
Pigx	A	G	16: 31,906,129 (GRCm39)	L64P	probably damaging	Het
Prss1	C	T	6: 41,440,615 (GRCm39)	T230I	probably damaging	Het
Ptma	A	G	1: 86,455,569 (GRCm39)		probably null	Het
Rab39	T	C	9: 53,617,331 (GRCm39)	T29A	probably benign	Het
Rem2	C	T	14: 54,715,144 (GRCm39)	A107V	possibly damaging	Het
Senp1	A	G	15: 97,946,152 (GRCm39)	V531A	probably damaging	Het
Serhl	A	G	15: 82,985,843 (GRCm39)		probably null	Het
Sirpa	T	G	2: 129,472,075 (GRCm39)	Y164D	probably damaging	Het
Slc12a3	T	C	8: 95,069,741 (GRCm39)	I550T	possibly damaging	Het
Slfn5	A	G	11: 82,851,241 (GRCm39)	N513D	probably damaging	Het
Sptan1	T	C	2: 29,910,467 (GRCm39)	S1831P	possibly damaging	Het
Swap70	T	C	7: 109,855,027 (GRCm39)	L109P	probably benign	Het
Tas2r119	G	A	15: 32,178,319 (GRCm39)	C295Y	probably damaging	Het
Tcaf3	T	A	6: 42,570,172 (GRCm39)	I527L	probably damaging	Het
Traj31	A	G	14: 54,425,387 (GRCm39)		probably benign	Het
Unc5a	T	A	13: 55,152,748 (GRCm39)	D887E	probably benign	Het
Zfp407	T	A	18: 84,450,536 (GRCm39)	H1600L	probably damaging	Het

Other mutations in Slc22a14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Slc22a14	APN	9	119,007,579 (GRCm39)	missense	possibly damaging	0.58
R0086:Slc22a14	UTSW	9	119,051,804 (GRCm39)	critical splice donor site	probably benign
R0505:Slc22a14	UTSW	9	119,001,100 (GRCm39)	splice site	probably benign
R0593:Slc22a14	UTSW	9	118,998,919 (GRCm39)	missense	probably benign	0.15
R0597:Slc22a14	UTSW	9	119,001,190 (GRCm39)	missense	probably damaging	0.99
R0674:Slc22a14	UTSW	9	119,007,608 (GRCm39)	missense	probably damaging	1.00
R1290:Slc22a14	UTSW	9	119,007,518 (GRCm39)	missense	probably damaging	1.00
R1459:Slc22a14	UTSW	9	119,052,827 (GRCm39)	missense	possibly damaging	0.70
R1706:Slc22a14	UTSW	9	119,010,050 (GRCm39)	missense	probably benign	0.06
R3980:Slc22a14	UTSW	9	119,007,552 (GRCm39)	missense	probably benign	0.02
R4166:Slc22a14	UTSW	9	119,008,934 (GRCm39)	missense	possibly damaging	0.53
R4166:Slc22a14	UTSW	9	119,007,498 (GRCm39)	missense	probably benign	0.00
R4574:Slc22a14	UTSW	9	119,008,561 (GRCm39)	missense	probably damaging	0.99
R4959:Slc22a14	UTSW	9	119,003,101 (GRCm39)	small deletion	probably benign
R4973:Slc22a14	UTSW	9	119,003,101 (GRCm39)	small deletion	probably benign
R5273:Slc22a14	UTSW	9	118,999,704 (GRCm39)	missense	probably benign	0.08
R5330:Slc22a14	UTSW	9	119,059,662 (GRCm39)	missense	probably damaging	1.00
R5331:Slc22a14	UTSW	9	119,059,662 (GRCm39)	missense	probably damaging	1.00
R5543:Slc22a14	UTSW	9	119,002,674 (GRCm39)	missense	probably benign	0.01
R5801:Slc22a14	UTSW	9	119,001,149 (GRCm39)	missense	probably benign	0.01
R6622:Slc22a14	UTSW	9	118,999,643 (GRCm39)	missense	possibly damaging	0.81
R6948:Slc22a14	UTSW	9	119,060,482 (GRCm39)	missense	probably damaging	1.00
R7027:Slc22a14	UTSW	9	119,060,281 (GRCm39)	splice site	probably null
R7731:Slc22a14	UTSW	9	118,999,677 (GRCm39)	missense	possibly damaging	0.95
R7985:Slc22a14	UTSW	9	118,999,704 (GRCm39)	missense	probably benign	0.01
R8412:Slc22a14	UTSW	9	119,009,922 (GRCm39)	missense	probably benign	0.00
R8508:Slc22a14	UTSW	9	119,009,651 (GRCm39)	missense	probably damaging	1.00
R8674:Slc22a14	UTSW	9	119,007,467 (GRCm39)	missense	probably null	1.00
R8773:Slc22a14	UTSW	9	119,059,290 (GRCm39)	intron	probably benign
R8950:Slc22a14	UTSW	9	118,998,778 (GRCm39)	missense	possibly damaging	0.71
R9484:Slc22a14	UTSW	9	119,009,615 (GRCm39)	missense	probably damaging	1.00
R9633:Slc22a14	UTSW	9	119,008,528 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGGTACAGTTTAATCAGTGCTG -3'
(R):5'- CGCACAATGTGTTGGGTAGC -3'

Sequencing Primer
(F):5'- GTAGACAGTACAACTCTGGTCTCAG -3'
(R):5'- CAATGTGTTGGGTAGCTGCTGAC -3'

Posted On

2018-06-06