Mutagenetix > Incidental Mutations

Incidental Mutation 'R3714:Slc22a27'

259826

Institutional Source

Beutler Lab

Gene Symbol

Slc22a27

Ensembl Gene

ENSMUSG00000067656

Gene Name

solute carrier family 22, member 27

Synonyms

mOAT6 related protein, AB056442

MMRRC Submission

040707-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R3714 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7864388-7966027 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 7926450 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 107 (N107K)

Ref Sequence

ENSEMBL: ENSMUSP00000138475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075619] [ENSMUST00000182102]

AlphaFold

Q76M72

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075619
AA Change: N107K

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000093991
Gene: ENSMUSG00000067656
AA Change: N107K

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Sugar_tr	99	528	1.5e-25	PFAM
Pfam:MFS_1	140	372	1.3e-15	PFAM
Pfam:MFS_1	349	549	8.3e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182102
AA Change: N107K

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138475
Gene: ENSMUSG00000067656
AA Change: N107K

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:MFS_1	241	441	1.2e-11	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,947,976	T595A	possibly damaging	Het
Abcd4	C	T	12: 84,611,759	M223I	probably benign	Het
Adck5	G	A	15: 76,593,938	V229I	probably damaging	Het
AF366264	T	G	8: 13,836,736	I452L	probably benign	Het
Ankk1	T	G	9: 49,421,713	D157A	possibly damaging	Het
Atp1a2	A	G	1: 172,278,984	I817T	probably damaging	Het
Ccdc87	A	G	19: 4,840,259	S260G	probably benign	Het
Cers3	G	T	7: 66,786,075	A261S	probably benign	Het
Cntnap5c	C	T	17: 57,892,067	Q119*	probably null	Het
Cpb2	T	A	14: 75,283,217		probably null	Het
Ddx47	T	A	6: 135,019,062	I329K	probably damaging	Het
Elavl3	G	T	9: 22,018,599	D336E	probably benign	Het
Fam92b	C	T	8: 120,174,837	R43H	probably damaging	Het
Fras1	T	C	5: 96,645,970		probably null	Het
Fuk	G	T	8: 110,887,259	D723E	probably damaging	Het
Garem1	T	A	18: 21,148,890	E136D	probably damaging	Het
Haus6	A	G	4: 86,602,867	I178T	probably benign	Het
Igkv3-2	T	G	6: 70,698,496	V10G	possibly damaging	Het
Jrkl	A	C	9: 13,244,231	I475R	possibly damaging	Het
Lcmt1	C	T	7: 123,404,460	H146Y	probably damaging	Het
Lipk	A	G	19: 34,040,429	N289S	probably damaging	Het
Mb	A	G	15: 77,017,589	V102A	probably benign	Het
Mc4r	T	A	18: 66,859,821	N74Y	probably damaging	Het
Mink1	G	T	11: 70,608,950	R773L	possibly damaging	Het
Mroh2b	A	G	15: 4,943,649	I1045V	probably benign	Het
Myo15	A	T	11: 60,479,231	E939V	possibly damaging	Het
Ndufs7	T	C	10: 80,252,421	I14T	probably benign	Het
Nlrp4b	T	C	7: 10,714,881	V337A	probably benign	Het
Npm2	T	C	14: 70,652,620		probably null	Het
Olfr1240	G	A	2: 89,439,383	L299F	probably damaging	Het
Olfr479	T	C	7: 108,055,435	F151S	probably damaging	Het
Olfr92	A	G	17: 37,111,335	Y216H	probably damaging	Het
Prdm9	T	A	17: 15,557,361	K154*	probably null	Het
Prkch	C	T	12: 73,775,516	P630S	probably damaging	Het
Ptprn	T	C	1: 75,252,767		probably null	Het
Rnf31	T	A	14: 55,603,394	D884E	probably damaging	Het
Spata5	G	A	3: 37,433,209	V407I	probably benign	Het
Tln1	G	T	4: 43,540,597	A1468D	probably damaging	Het
Tmem185b	T	A	1: 119,527,051	F181I	possibly damaging	Het
Tmem63a	G	A	1: 180,963,114	D446N	possibly damaging	Het
Trappc11	T	C	8: 47,505,316		probably benign	Het
Vmn1r218	A	T	13: 23,136,911	N63Y	probably damaging	Het
Vps37c	A	G	19: 10,706,268	D18G	probably damaging	Het

Other mutations in Slc22a27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01994:Slc22a27	APN	19	7909743	missense	possibly damaging	0.93
IGL02516:Slc22a27	APN	19	7864811	missense	probably damaging	0.99
IGL02961:Slc22a27	APN	19	7926521	missense	probably damaging	0.99
IGL03008:Slc22a27	APN	19	7909702	missense	possibly damaging	0.92
PIT4544001:Slc22a27	UTSW	19	7909738	missense	probably damaging	1.00
R0172:Slc22a27	UTSW	19	7865836	nonsense	probably null
R0234:Slc22a27	UTSW	19	7926791	start gained	probably benign
R0234:Slc22a27	UTSW	19	7926791	start gained	probably benign
R0280:Slc22a27	UTSW	19	7896822	nonsense	probably null
R0561:Slc22a27	UTSW	19	7880162	critical splice donor site	probably null
R0597:Slc22a27	UTSW	19	7865884	missense	probably benign	0.00
R1005:Slc22a27	UTSW	19	7926751	missense	probably damaging	1.00
R1165:Slc22a27	UTSW	19	7909694	splice site	probably null
R1217:Slc22a27	UTSW	19	7926668	missense	probably benign	0.01
R1533:Slc22a27	UTSW	19	7866983	missense	possibly damaging	0.79
R1940:Slc22a27	UTSW	19	7909727	missense	probably damaging	1.00
R3959:Slc22a27	UTSW	19	7910049	missense	probably damaging	1.00
R4059:Slc22a27	UTSW	19	7879608	splice site	probably benign
R4249:Slc22a27	UTSW	19	7925879	missense	possibly damaging	0.64
R4748:Slc22a27	UTSW	19	7925876	missense	probably benign
R5220:Slc22a27	UTSW	19	7865938	missense	probably damaging	0.96
R5221:Slc22a27	UTSW	19	7865938	missense	probably damaging	0.96
R5232:Slc22a27	UTSW	19	7865938	missense	probably damaging	0.96
R5330:Slc22a27	UTSW	19	7879455	missense	probably benign	0.13
R5331:Slc22a27	UTSW	19	7879455	missense	probably benign	0.13
R5345:Slc22a27	UTSW	19	7865938	missense	probably damaging	0.96
R5427:Slc22a27	UTSW	19	7879388	critical splice donor site	probably null
R5534:Slc22a27	UTSW	19	7926631	missense	probably damaging	1.00
R5691:Slc22a27	UTSW	19	7926670	missense	possibly damaging	0.90
R5828:Slc22a27	UTSW	19	7926402	missense	probably damaging	1.00
R5878:Slc22a27	UTSW	19	7926757	missense	probably benign	0.01
R5918:Slc22a27	UTSW	19	7910046	missense	possibly damaging	0.91
R6185:Slc22a27	UTSW	19	7926588	missense	probably benign	0.14
R6901:Slc22a27	UTSW	19	7926579	missense	probably damaging	1.00
R7139:Slc22a27	UTSW	19	7926547	missense	probably damaging	1.00
R7336:Slc22a27	UTSW	19	7926689	missense	probably benign	0.02
R7502:Slc22a27	UTSW	19	7926382	missense	probably damaging	1.00
R7556:Slc22a27	UTSW	19	7865754	missense	probably damaging	0.98
R7737:Slc22a27	UTSW	19	7896762	missense	probably damaging	0.99
R7860:Slc22a27	UTSW	19	7910107	critical splice acceptor site	probably null
R8050:Slc22a27	UTSW	19	7880167	missense	probably benign	0.18
R8090:Slc22a27	UTSW	19	7865736	splice site	probably null
R8150:Slc22a27	UTSW	19	7910025	missense	possibly damaging	0.87
R8974:Slc22a27	UTSW	19	7926386	missense	probably damaging	1.00
R9246:Slc22a27	UTSW	19	7896844	missense	probably benign	0.36
R9425:Slc22a27	UTSW	19	7896791	missense	probably damaging	1.00
RF012:Slc22a27	UTSW	19	7926584	missense	probably benign	0.07
Z1177:Slc22a27	UTSW	19	7909730	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCCATAATGTGCCATCATCCTTAG -3'
(R):5'- TCCCCATCCTTGACAATGAC -3'

Sequencing Primer
(F):5'- ACTAGAAGAATGAGAACTGTTTCAC -3'
(R):5'- CACTGCCTCTGATAATGGCAGTAG -3'

Posted On

2015-01-23