Mutagenetix > Incidental Mutation

Incidental Mutation 'R3980:Slc22a14'

311263

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

040843-MU

Accession Numbers

Essential gene?

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

Stock #

R3980 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118998521-119019496 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119007552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 286 (T286A)

Ref Sequence

ENSEMBL: ENSMUSP00000131982 (fasta)

Gene Model

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

AlphaFold

Q497L9

Predicted Effect

probably benign
Transcript: ENSMUST00000093775
AA Change: T286A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000091289
Gene: ENSMUSG00000070280
AA Change: T286A

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 benign
Transcript: ENSMUST00000152061

SMART Domains

Protein: ENSMUSP00000117967
Gene: ENSMUSG00000070280

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: T286A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000131982
Gene: ENSMUSG00000070280
AA Change: T286A

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: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	G	A	15: 74,454,792 (GRCm39)	G268R	probably damaging	Het
Amacr	T	A	15: 10,989,015 (GRCm39)	Y240*	probably null	Het
Ankhd1	A	T	18: 36,780,666 (GRCm39)	H1906L	probably damaging	Het
Arhgef25	C	A	10: 127,023,089 (GRCm39)	C106F	probably damaging	Het
Bean1	A	T	8: 104,937,730 (GRCm39)	Q103L	possibly damaging	Het
Ccr9	A	T	9: 123,608,441 (GRCm39)	N41I	probably benign	Het
Ceacam16	A	G	7: 19,592,558 (GRCm39)	F117L	probably benign	Het
Col4a1	T	C	8: 11,289,155 (GRCm39)		probably benign	Het
Csk	A	G	9: 57,538,063 (GRCm39)	Y48H	probably damaging	Het
Csmd1	T	A	8: 15,956,056 (GRCm39)	K3384*	probably null	Het
Ctnnd2	T	A	15: 30,669,589 (GRCm39)	H399Q	probably benign	Het
Cutal	T	C	2: 34,772,325 (GRCm39)	Y30H	possibly damaging	Het
Cybb	T	C	X: 9,310,827 (GRCm39)	Y425C	probably damaging	Het
Dab2	A	G	15: 6,464,644 (GRCm39)		probably null	Het
Defb30	C	A	14: 63,273,421 (GRCm39)	C64F	probably damaging	Het
Eif2a	T	C	3: 58,446,960 (GRCm39)	I45T	probably benign	Het
Esyt1	T	A	10: 128,347,393 (GRCm39)	D1044V	probably damaging	Het
Gabpb2	A	T	3: 95,096,081 (GRCm39)	V382E	probably damaging	Het
Glb1	T	A	9: 114,246,132 (GRCm39)	I61K	probably damaging	Het
Insyn2b	G	A	11: 34,352,678 (GRCm39)	C240Y	probably benign	Het
Kcnt1	T	C	2: 25,783,226 (GRCm39)	V263A	possibly damaging	Het
Kdm5b	A	G	1: 134,547,408 (GRCm39)	D1019G	probably benign	Het
Klhl2	A	T	8: 65,196,109 (GRCm39)	L545M	probably damaging	Het
Klhl2	C	A	8: 65,196,115 (GRCm39)	G543C	probably damaging	Het
Krt31	G	T	11: 99,939,030 (GRCm39)	Q264K	probably damaging	Het
Lmnb1	A	G	18: 56,864,091 (GRCm39)	D232G	probably damaging	Het
Loxhd1	T	C	18: 77,501,855 (GRCm39)	F859L	probably damaging	Het
Map7	C	A	10: 20,143,099 (GRCm39)	T416K	unknown	Het
Med18	T	A	4: 132,190,251 (GRCm39)	I45F	probably benign	Het
Mn1	A	T	5: 111,569,636 (GRCm39)	H1202L	possibly damaging	Het
Mpp7	T	C	18: 7,444,062 (GRCm39)	D120G	probably benign	Het
Nlrp1b	A	T	11: 71,072,437 (GRCm39)	F469I	possibly damaging	Het
Nos3	T	A	5: 24,582,929 (GRCm39)	D685E	probably damaging	Het
Nrap	G	A	19: 56,369,984 (GRCm39)	A206V	probably benign	Het
Nuggc	T	C	14: 65,856,542 (GRCm39)		probably null	Het
Oasl1	C	T	5: 115,070,957 (GRCm39)	T274I	probably damaging	Het
Or10ak12	T	A	4: 118,666,500 (GRCm39)	Y187F	probably benign	Het
Or51a25	T	C	7: 102,372,959 (GRCm39)	N246S	probably damaging	Het
Parp3	T	C	9: 106,351,267 (GRCm39)	D278G	probably damaging	Het
Phc3	T	A	3: 30,991,080 (GRCm39)	Q346L	probably damaging	Het
Pigo	A	G	4: 43,019,231 (GRCm39)	L1029P	probably damaging	Het
Plcb3	A	G	19: 6,943,803 (GRCm39)	I66T	probably damaging	Het
Plch2	T	C	4: 155,069,255 (GRCm39)	S1019G	probably benign	Het
Plekhg6	C	A	6: 125,350,146 (GRCm39)	C264F	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pou4f2	G	T	8: 79,162,067 (GRCm39)	H179N	possibly damaging	Het
Prpf39	T	C	12: 65,108,231 (GRCm39)		probably benign	Het
Rapgef1	G	A	2: 29,609,662 (GRCm39)	V700I	probably benign	Het
Rdh14	A	G	12: 10,444,703 (GRCm39)	I185V	probably benign	Het
Rnf111	A	T	9: 70,349,607 (GRCm39)	H785Q	probably damaging	Het
Rttn	C	T	18: 89,035,399 (GRCm39)	R758W	probably benign	Het
Sik3	G	A	9: 46,113,361 (GRCm39)	V601M	probably damaging	Het
Slc36a3	G	A	11: 55,026,209 (GRCm39)	T203I	probably benign	Het
Spata31	A	T	13: 65,070,468 (GRCm39)	Q872L	probably benign	Het
Spata31d1c	A	G	13: 65,182,974 (GRCm39)	D172G	possibly damaging	Het
Sphkap	A	T	1: 83,245,215 (GRCm39)		probably null	Het
Stat6	T	C	10: 127,491,248 (GRCm39)	V463A	probably damaging	Het
Stx7	T	C	10: 24,060,947 (GRCm39)	S225P	probably damaging	Het
Sult2a7	A	T	7: 14,207,334 (GRCm39)		probably benign	Het
Tada2a	A	T	11: 83,993,946 (GRCm39)	F179L	probably benign	Het
Tas2r103	A	G	6: 133,013,280 (GRCm39)	L262P	probably benign	Het
Tfap2d	A	G	1: 19,236,187 (GRCm39)	I382V	possibly damaging	Het
Tshr	C	A	12: 91,504,517 (GRCm39)	A485D	probably damaging	Het
Vmn1r32	T	A	6: 66,530,698 (GRCm39)	Y26F	probably damaging	Het
Vmn1r5	A	G	6: 56,962,636 (GRCm39)	T104A	probably damaging	Het
Wbp1l	T	A	19: 46,642,396 (GRCm39)		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
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
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'- TGTACTTCTCTGAGGGCCTC -3'
(R):5'- GCTCTGAGGGCTGTCTAAAGATC -3'

Sequencing Primer
(F):5'- GGCCTCTGTGTGTGTCCC -3'
(R):5'- CAGAAGAAACTTTGTGTAGCCC -3'

Posted On

2015-04-29