Mutagenetix > Incidental Mutations

Incidental Mutation 'R8508:Slc22a14'

655703

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R8508 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119169455-119365553 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119180585 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 148 (L148P)

Ref Sequence

ENSEMBL: ENSMUSP00000091289 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093775] [ENSMUST00000127794] [ENSMUST00000170400]

Predicted Effect

probably damaging
Transcript: ENSMUST00000093775
AA Change: L148P

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

SMART Domains

Protein: ENSMUSP00000091289
Gene: ENSMUSG00000070280
AA Change: L148P

Domain	Start	End	E-Value	Type
transmembrane domain	68	90	N/A	INTRINSIC
Pfam:Sugar_tr	156	556	1.3e-28	PFAM
Pfam:MFS_1	178	514	7.8e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127794

Predicted Effect

probably damaging
Transcript: ENSMUST00000170400
AA Change: L148P

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

SMART Domains

Protein: ENSMUSP00000131982
Gene: ENSMUSG00000070280
AA Change: L148P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	G	13: 59,743,598	L136P	probably benign	Het
4932438H23Rik	T	G	16: 91,055,612	Y212S	probably damaging	Het
Angpt1	T	C	15: 42,512,399	N154D	probably damaging	Het
Angpt2	G	A	8: 18,741,119	R54*	probably null	Het
Ankrd27	T	A	7: 35,601,626	L117*	probably null	Het
Arhgap21	C	T	2: 20,854,180	M1234I	probably benign	Het
Arhgef33	A	G	17: 80,367,335	E387G	probably damaging	Het
Atp13a4	T	A	16: 29,454,769	K444*	probably null	Het
Atp6v1a	G	A	16: 44,101,862	R338C	probably damaging	Het
Canx	T	C	11: 50,311,647	D44G	possibly damaging	Het
Ccdc141	T	A	2: 77,132,244	M119L	probably benign	Het
Ckmt1	A	C	2: 121,362,691	Q299P	possibly damaging	Het
Dhx16	T	C	17: 35,885,920	S601P	probably damaging	Het
Dna2	A	C	10: 62,950,894	R140S	probably damaging	Het
Dock1	A	G	7: 134,782,409	T670A	probably benign	Het
Eogt	A	G	6: 97,143,998	S85P	possibly damaging	Het
Fbf1	A	T	11: 116,165,881	M1K	probably null	Het
Fbxl12	C	A	9: 20,638,864	R165L	possibly damaging	Het
Flnb	G	A	14: 7,950,394	V2571I	probably damaging	Het
Gm11361	A	G	13: 28,257,711	I26V	probably benign	Het
Gm43518	A	G	5: 123,938,259	E123G	unknown	Het
Gm8332	T	G	12: 88,249,685	E139A	unknown	Het
Gpatch2	A	G	1: 187,304,355	N374S	probably benign	Het
Hey1	G	C	3: 8,664,776	A207G	probably benign	Het
Hoxa11	T	C	6: 52,245,802		probably benign	Het
Hydin	G	A	8: 110,582,018	V3979I	probably benign	Het
Ighe	C	T	12: 113,271,793	W277*	probably null	Het
Kmt2c	G	T	5: 25,314,122	T2330K	probably benign	Het
Krt6a	T	A	15: 101,692,735	K261M	probably damaging	Het
Lats2	A	C	14: 57,722,705	S161A	probably benign	Het
Med13l	T	A	5: 118,754,321	D1936E	probably benign	Het
Mipol1	T	C	12: 57,306,088	V71A	possibly damaging	Het
Mphosph8	A	T	14: 56,676,546	K415*	probably null	Het
Npepps	A	G	11: 97,244,426		probably null	Het
Ntn4	A	T	10: 93,741,104	N545Y	possibly damaging	Het
Olfr1501	A	T	19: 13,838,402	M257K	possibly damaging	Het
Olfr164	T	C	16: 19,286,701	D14G	probably benign	Het
Olfr353	A	G	2: 36,890,354	S165P	probably damaging	Het
Olfr738	A	C	14: 50,413,675	M44L	probably benign	Het
Osbpl2	T	A	2: 180,155,343	V358E	possibly damaging	Het
Pdcd11	C	A	19: 47,119,806	P1204Q	probably damaging	Het
Pnliprp2	A	C	19: 58,763,374	S184R	probably damaging	Het
Ppm1g	G	T	5: 31,204,528	R373S	probably damaging	Het
Rnf130	A	G	11: 50,087,437	D275G	probably damaging	Het
Setd5	T	C	6: 113,121,087	S696P	probably damaging	Het
Sgip1	A	G	4: 102,915,071	Q219R	probably benign	Het
Slc1a2	T	C	2: 102,736,085		probably null	Het
Slc22a12	T	C	19: 6,542,437	T106A	probably benign	Het
Slc2a9	A	T	5: 38,382,078	F375I	probably damaging	Het
Sorbs3	A	T	14: 70,202,947	D117E	probably benign	Het
Sphkap	G	A	1: 83,276,500	T1176I	probably damaging	Het
Supt16	A	T	14: 52,181,589	V193D	probably damaging	Het
Sytl3	A	G	17: 6,728,291	T362A	probably damaging	Het
Tctn1	T	A	5: 122,246,611	Q410L	probably benign	Het
Trbc2	T	C	6: 41,547,777	Y133H		Het
Ttc28	G	A	5: 111,233,341	D1240N	probably benign	Het
Vmn2r120	A	G	17: 57,525,843	V112A	probably benign	Het
Zfp354b	A	T	11: 50,923,470	S209R	probably benign	Het
Zfp362	T	C	4: 128,774,606	H391R	probably damaging	Het

Other mutations in Slc22a14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Slc22a14	APN	9	119178513	missense	possibly damaging	0.58
R0086:Slc22a14	UTSW	9	119222738	critical splice donor site	probably benign
R0505:Slc22a14	UTSW	9	119172034	splice site	probably benign
R0593:Slc22a14	UTSW	9	119169851	missense	probably benign	0.15
R0597:Slc22a14	UTSW	9	119172124	missense	probably damaging	0.99
R0674:Slc22a14	UTSW	9	119178542	missense	probably damaging	1.00
R1290:Slc22a14	UTSW	9	119178452	missense	probably damaging	1.00
R1459:Slc22a14	UTSW	9	119223761	missense	possibly damaging	0.70
R1706:Slc22a14	UTSW	9	119180984	missense	probably benign	0.06
R3980:Slc22a14	UTSW	9	119178486	missense	probably benign	0.02
R4166:Slc22a14	UTSW	9	119178432	missense	probably benign	0.00
R4166:Slc22a14	UTSW	9	119179868	missense	possibly damaging	0.53
R4574:Slc22a14	UTSW	9	119179495	missense	probably damaging	0.99
R4959:Slc22a14	UTSW	9	119174035	small deletion	probably benign
R4973:Slc22a14	UTSW	9	119174035	small deletion	probably benign
R5273:Slc22a14	UTSW	9	119170638	missense	probably benign	0.08
R5330:Slc22a14	UTSW	9	119230596	missense	probably damaging	1.00
R5331:Slc22a14	UTSW	9	119230596	missense	probably damaging	1.00
R5543:Slc22a14	UTSW	9	119173608	missense	probably benign	0.01
R5801:Slc22a14	UTSW	9	119172083	missense	probably benign	0.01
R6521:Slc22a14	UTSW	9	119220769	splice site	probably null
R6622:Slc22a14	UTSW	9	119170577	missense	possibly damaging	0.81
R6948:Slc22a14	UTSW	9	119231416	missense	probably damaging	1.00
R7027:Slc22a14	UTSW	9	119231215	splice site	probably null
R7731:Slc22a14	UTSW	9	119170611	missense	possibly damaging	0.95
R7985:Slc22a14	UTSW	9	119170638	missense	probably benign	0.01
R8412:Slc22a14	UTSW	9	119180856	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAATGCATGCTCATTTCCTGGC -3'
(R):5'- CAGAGGCCCTACTGTAACAC -3'

Sequencing Primer
(F):5'- TTCCTGGCTTAAGAAAATCAGGGC -3'
(R):5'- TGTAACACCAGCTGGATCCTG -3'

Posted On

2020-10-20