Mutagenetix > Incidental Mutation

Incidental Mutation 'R8950:Slc22a14'

681581

Institutional Source

Beutler Lab

Gene Symbol

Slc22a14

Ensembl Gene

ENSMUSG00000070280

Gene Name

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

Synonyms

LOC382113

Accession Numbers

Essential gene?

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

Stock #

R8950 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118998521-119019496 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118998778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 182 (L182P)

Gene Model

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

AlphaFold

Q497L9

Predicted Effect

probably benign
Transcript: ENSMUST00000093775
AA Change: L608P

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000091289
Gene: ENSMUSG00000070280
AA Change: L608P

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

possibly damaging
Transcript: ENSMUST00000152061
AA Change: L182P

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000117967
Gene: ENSMUSG00000070280
AA Change: L182P

Domain	Start	End	E-Value	Type
transmembrane domain	73	92	N/A	INTRINSIC
transmembrane domain	99	118	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170400
AA Change: L608P

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000131982
Gene: ENSMUSG00000070280
AA Change: L608P

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: 100.0%
10x: 99.8%
20x: 99.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,823,595 (GRCm39)	F374S	possibly damaging	Het
Abca14	T	A	7: 119,823,644 (GRCm39)	Y390*	probably null	Het
Abca9	T	C	11: 110,054,206 (GRCm39)		probably null	Het
Anxa1	G	T	19: 20,352,662 (GRCm39)	S304*	probably null	Het
Aspm	G	A	1: 139,406,690 (GRCm39)	R1859Q	probably damaging	Het
Atp13a5	A	T	16: 29,197,314 (GRCm39)	N14K	probably damaging	Het
Bmpr1a	G	T	14: 34,163,148 (GRCm39)	H81N	possibly damaging	Het
Camkv	C	T	9: 107,824,296 (GRCm39)	T236I	probably damaging	Het
Carm1	T	A	9: 21,490,789 (GRCm39)	M219K	probably damaging	Het
Ccdc162	T	C	10: 41,474,507 (GRCm39)	R1352G	probably benign	Het
Cd200l1	A	T	16: 45,263,007 (GRCm39)	V44D	possibly damaging	Het
Cib1	A	G	7: 79,878,211 (GRCm39)	L89P	probably damaging	Het
Col6a5	C	T	9: 105,822,833 (GRCm39)	E175K	unknown	Het
Crebbp	A	G	16: 4,031,023 (GRCm39)	F22S	probably damaging	Het
Csf2rb	A	T	15: 78,232,520 (GRCm39)	D609V	probably benign	Het
Csn1s1	T	C	5: 87,824,482 (GRCm39)		probably null	Het
Dchs1	A	T	7: 105,408,212 (GRCm39)	H1873Q	probably benign	Het
Dnah1	T	C	14: 31,012,396 (GRCm39)	D1901G	probably damaging	Het
Dock10	G	T	1: 80,519,016 (GRCm39)	T1235N	probably benign	Het
Eddm3b	T	A	14: 51,354,110 (GRCm39)	S33T	probably damaging	Het
Fam151b	A	T	13: 92,610,567 (GRCm39)	M74K	probably damaging	Het
Fat1	T	A	8: 45,476,158 (GRCm39)	F1735I	probably damaging	Het
Fcgbpl1	A	G	7: 27,863,751 (GRCm39)	R2508G	probably benign	Het
Fip1l1	T	G	5: 74,756,524 (GRCm39)	S505R	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Gpr180	A	G	14: 118,395,452 (GRCm39)	I295V	probably benign	Het
Gtf3c2	G	A	5: 31,331,151 (GRCm39)	T175I	probably damaging	Het
Hmcn2	T	C	2: 31,244,741 (GRCm39)	Y733H	probably damaging	Het
Irs1	T	A	1: 82,264,652 (GRCm39)	Q1188L	probably benign	Het
Kcnk5	T	C	14: 20,192,046 (GRCm39)	R372G	probably benign	Het
Kdm5b	T	A	1: 134,541,664 (GRCm39)	N746K	possibly damaging	Het
Kdm7a	T	C	6: 39,123,903 (GRCm39)	I754V	probably benign	Het
Mad2l1bp	G	A	17: 46,458,891 (GRCm39)	T213I	possibly damaging	Het
Map2	G	T	1: 66,419,684 (GRCm39)	R5L	probably damaging	Het
Map4	G	A	9: 109,901,702 (GRCm39)	V781M	possibly damaging	Het
Mbd2	A	G	18: 70,713,864 (GRCm39)	D231G	probably damaging	Het
Negr1	C	A	3: 156,721,906 (GRCm39)	P160Q	probably damaging	Het
Nfya	A	T	17: 48,700,489 (GRCm39)		probably benign	Het
Nlk	T	C	11: 78,586,758 (GRCm39)	Q112R	probably benign	Het
Obscn	C	A	11: 58,947,009 (GRCm39)	A4339S	probably damaging	Het
Or3a10	A	G	11: 73,935,782 (GRCm39)	F106S	possibly damaging	Het
Or5b99	A	T	19: 12,976,445 (GRCm39)	I32F	probably damaging	Het
Pcdhb12	A	G	18: 37,570,590 (GRCm39)	T579A	probably benign	Het
Pcdhb2	G	A	18: 37,429,715 (GRCm39)	V563M	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Piezo1	T	C	8: 123,208,729 (GRCm39)	R2545G	probably benign	Het
Plcb1	A	G	2: 135,179,439 (GRCm39)	N616D	probably damaging	Het
Pogk	A	T	1: 166,226,394 (GRCm39)	F586I	probably damaging	Het
Polr1f	T	A	12: 33,483,526 (GRCm39)	Y93N	probably damaging	Het
Prkg2	T	A	5: 99,119,815 (GRCm39)	I435F	possibly damaging	Het
Prrt4	T	C	6: 29,177,665 (GRCm39)	T35A	probably damaging	Het
Rad17	A	G	13: 100,767,576 (GRCm39)	S342P	probably damaging	Het
Rpl36-ps4	A	G	17: 88,228,574 (GRCm39)	T40A	probably damaging	Het
Skint5	T	C	4: 113,374,349 (GRCm39)	T1247A	unknown	Het
Slc35b3	T	C	13: 39,138,097 (GRCm39)	D104G	probably damaging	Het
Sult2a1	A	G	7: 13,530,342 (GRCm39)	F266L	probably damaging	Het
Sult2a2	A	T	7: 13,467,484 (GRCm39)	M1L	probably damaging	Het
Tat	T	A	8: 110,718,337 (GRCm39)	I74N	probably damaging	Het
Trappc6a	G	T	7: 19,249,923 (GRCm39)		probably benign	Het
Usp44	A	G	10: 93,682,129 (GRCm39)	E193G	possibly damaging	Het
Virma	C	T	4: 11,519,047 (GRCm39)	Q765*	probably null	Het
Vmn1r46	T	C	6: 89,954,053 (GRCm39)	S301P	probably damaging	Het
Vmn2r116	A	T	17: 23,620,467 (GRCm39)	I734F	probably damaging	Het
Vmn2r5	A	T	3: 64,398,522 (GRCm39)	V819D	probably damaging	Het
Vmn2r74	A	G	7: 85,606,569 (GRCm39)	I259T	probably damaging	Het
Vps13a	A	G	19: 16,723,340 (GRCm39)	I286T	probably damaging	Het
Wdr73	T	C	7: 80,550,131 (GRCm39)	I55V	probably benign	Het
Znhit2	A	T	19: 6,111,803 (GRCm39)	R183*	probably null	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
R6521:Slc22a14	UTSW	9	119,049,835 (GRCm39)	splice site	probably null
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
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'- CTATTTTGGGATCCCGAGGG -3'
(R):5'- GAGAAAGCCCCATCTCGTTCAG -3'

Sequencing Primer
(F):5'- GCTGACCTTGGAGGAGGAC -3'
(R):5'- TCGTTCAGAGATGTCATGATTAAAG -3'

Posted On

2021-08-31