Mutagenetix > Incidental Mutation

Incidental Mutation 'R5698:Slc22a21'

450805

Institutional Source

Beutler Lab

Gene Symbol

Slc22a21

Ensembl Gene

ENSMUSG00000063652

Gene Name

solute carrier family 22 (organic cation transporter), member 21

Synonyms

Octn3, Slc22a9

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5698 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53840791-53871158 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 53842175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 534 (K534N)

Ref Sequence

ENSEMBL: ENSMUSP00000075814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076493]

AlphaFold

Q9WTN6

Predicted Effect

probably benign
Transcript: ENSMUST00000076493
AA Change: K534N

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000075814
Gene: ENSMUSG00000063652
AA Change: K534N

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Sugar_tr	74	527	3.1e-31	PFAM
Pfam:MFS_1	139	376	3e-13	PFAM
low complexity region	528	542	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129301

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit no detectable phenotypic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	A	G	11: 3,926,366 (GRCm39)	K334E	possibly damaging	Het
Ache	G	A	5: 137,288,821 (GRCm39)	V176M	probably damaging	Het
Acss3	T	C	10: 106,784,605 (GRCm39)	D539G	probably damaging	Het
Adam6b	T	A	12: 113,455,083 (GRCm39)	D633E	probably benign	Het
Aldh16a1	G	A	7: 44,803,831 (GRCm39)		probably benign	Het
Amigo2	G	A	15: 97,143,607 (GRCm39)	Q272*	probably null	Het
Aoc1l1	A	G	6: 48,953,256 (GRCm39)	T394A	possibly damaging	Het
Appbp2	A	T	11: 85,100,925 (GRCm39)	H171Q	probably damaging	Het
Arhgef18	A	G	8: 3,489,499 (GRCm39)	D277G	probably damaging	Het
Armc8	A	G	9: 99,417,873 (GRCm39)	V95A	probably benign	Het
Atp6v0a4	C	T	6: 38,027,442 (GRCm39)		probably null	Het
Atp8a1	A	T	5: 67,924,496 (GRCm39)	N289K	probably benign	Het
Cand2	C	T	6: 115,768,704 (GRCm39)	L505F	probably damaging	Het
Ccnt2	A	G	1: 127,730,965 (GRCm39)	K614R	probably benign	Het
Col25a1	A	G	3: 130,272,632 (GRCm39)		probably null	Het
Copa	T	A	1: 171,946,511 (GRCm39)	L976*	probably null	Het
Ddx39b	T	C	17: 35,470,287 (GRCm39)	V267A	probably benign	Het
Dpp4	T	A	2: 62,164,655 (GRCm39)	Q709L	probably damaging	Het
Eno4	A	G	19: 58,956,904 (GRCm39)		probably null	Het
Exoc3	A	G	13: 74,322,134 (GRCm39)	L647P	probably benign	Het
Eya4	T	C	10: 23,015,975 (GRCm39)	S308G	possibly damaging	Het
Fbxo41	T	C	6: 85,454,638 (GRCm39)	T693A	possibly damaging	Het
Fcgbp	A	G	7: 27,791,447 (GRCm39)	T903A	possibly damaging	Het
Fkbp10	G	T	11: 100,314,352 (GRCm39)	W384L	probably damaging	Het
Frem2	A	G	3: 53,559,926 (GRCm39)	I1527T	possibly damaging	Het
H13	T	A	2: 152,530,875 (GRCm39)	I220N	probably damaging	Het
Has2	T	C	15: 56,531,312 (GRCm39)	R468G	probably damaging	Het
Ighmbp2	A	G	19: 3,324,538 (GRCm39)	S243P	probably damaging	Het
Irs1	T	C	1: 82,266,455 (GRCm39)	H587R	probably benign	Het
Kcnk1	C	T	8: 126,752,144 (GRCm39)	T250M	probably damaging	Het
Kif9	T	C	9: 110,339,532 (GRCm39)	V458A	probably benign	Het
Krt14	T	C	11: 100,096,451 (GRCm39)	T208A	probably benign	Het
Mybpc3	C	A	2: 90,955,194 (GRCm39)	H349Q	possibly damaging	Het
Neurl3	T	A	1: 36,305,587 (GRCm39)	T207S	possibly damaging	Het
Nol9	T	C	4: 152,135,031 (GRCm39)	V388A	probably damaging	Het
Notch3	T	C	17: 32,376,961 (GRCm39)	N315D	probably damaging	Het
Oas1h	G	T	5: 121,009,045 (GRCm39)	A252S	probably damaging	Het
Or13c7b	C	A	4: 43,821,183 (GRCm39)	M59I	probably damaging	Het
Pcbp1	G	A	6: 86,502,134 (GRCm39)	T255M	possibly damaging	Het
Plec	A	G	15: 76,083,808 (GRCm39)	V18A	probably benign	Het
Ppp1r17	A	T	6: 56,003,529 (GRCm39)	E114V	probably damaging	Het
Scamp5	A	T	9: 57,352,716 (GRCm39)	M151K	possibly damaging	Het
Sestd1	T	C	2: 77,048,512 (GRCm39)	Y135C	possibly damaging	Het
Slc25a12	T	C	2: 71,112,917 (GRCm39)	E448G	probably damaging	Het
Slco3a1	A	G	7: 73,996,566 (GRCm39)	L280P	probably damaging	Het
Sppl2b	C	A	10: 80,701,879 (GRCm39)		probably null	Het
Srd5a2	T	C	17: 74,334,014 (GRCm39)	E135G	possibly damaging	Het
Tfg	A	T	16: 56,521,467 (GRCm39)	M183K	probably damaging	Het
Ticrr	G	A	7: 79,328,881 (GRCm39)	M673I	probably benign	Het
Tm4sf20	T	G	1: 82,745,958 (GRCm39)	M61L	probably benign	Het
Ttll8	A	T	15: 88,823,209 (GRCm39)	S85T	possibly damaging	Het
Uggt2	G	A	14: 119,280,138 (GRCm39)	S780F	probably damaging	Het
Uroc1	T	C	6: 90,324,302 (GRCm39)	L442P	probably damaging	Het
Zfp1005	C	T	2: 150,111,394 (GRCm39)	H695Y	possibly damaging	Het
Znrf3	A	G	11: 5,239,006 (GRCm39)		probably benign	Het
Zswim2	C	A	2: 83,755,527 (GRCm39)	D125Y	possibly damaging	Het

Other mutations in Slc22a21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01389:Slc22a21	APN	11	53,870,407 (GRCm39)	missense	probably damaging	1.00
R0025:Slc22a21	UTSW	11	53,870,514 (GRCm39)	missense	probably damaging	1.00
R0104:Slc22a21	UTSW	11	53,842,635 (GRCm39)	missense	probably null	0.88
R0285:Slc22a21	UTSW	11	53,850,022 (GRCm39)	splice site	probably benign
R0562:Slc22a21	UTSW	11	53,870,446 (GRCm39)	nonsense	probably null
R0569:Slc22a21	UTSW	11	53,842,636 (GRCm39)	missense	probably benign	0.00
R1237:Slc22a21	UTSW	11	53,870,598 (GRCm39)	missense	probably benign	0.36
R2131:Slc22a21	UTSW	11	53,870,559 (GRCm39)	missense	probably damaging	1.00
R2327:Slc22a21	UTSW	11	53,842,130 (GRCm39)	missense	probably benign	0.25
R2991:Slc22a21	UTSW	11	53,850,195 (GRCm39)	missense	probably damaging	1.00
R4209:Slc22a21	UTSW	11	53,846,881 (GRCm39)	missense	probably benign	0.00
R4290:Slc22a21	UTSW	11	53,860,329 (GRCm39)	missense	probably damaging	1.00
R4291:Slc22a21	UTSW	11	53,860,329 (GRCm39)	missense	probably damaging	1.00
R4292:Slc22a21	UTSW	11	53,860,329 (GRCm39)	missense	probably damaging	1.00
R4294:Slc22a21	UTSW	11	53,860,329 (GRCm39)	missense	probably damaging	1.00
R4295:Slc22a21	UTSW	11	53,860,329 (GRCm39)	missense	probably damaging	1.00
R4470:Slc22a21	UTSW	11	53,846,839 (GRCm39)	missense	probably benign	0.00
R5194:Slc22a21	UTSW	11	53,870,673 (GRCm39)	missense	probably damaging	1.00
R5214:Slc22a21	UTSW	11	53,843,869 (GRCm39)	missense	probably damaging	0.99
R6169:Slc22a21	UTSW	11	53,848,913 (GRCm39)	missense	probably damaging	1.00
R6200:Slc22a21	UTSW	11	53,848,864 (GRCm39)	missense	probably damaging	1.00
R6767:Slc22a21	UTSW	11	53,870,328 (GRCm39)	missense	probably damaging	1.00
R6845:Slc22a21	UTSW	11	53,870,466 (GRCm39)	missense	probably benign	0.01
R7109:Slc22a21	UTSW	11	53,870,329 (GRCm39)	missense	possibly damaging	0.88
R7402:Slc22a21	UTSW	11	53,851,226 (GRCm39)	missense	probably benign	0.00
R8515:Slc22a21	UTSW	11	53,846,904 (GRCm39)	missense	possibly damaging	0.64
R8669:Slc22a21	UTSW	11	53,870,643 (GRCm39)	nonsense	probably null
R8911:Slc22a21	UTSW	11	53,846,809 (GRCm39)	critical splice donor site	probably null
R8973:Slc22a21	UTSW	11	53,860,402 (GRCm39)	missense	probably damaging	1.00
R9601:Slc22a21	UTSW	11	53,850,051 (GRCm39)	missense	possibly damaging	0.93
R9707:Slc22a21	UTSW	11	53,851,186 (GRCm39)	missense	probably benign	0.00
R9743:Slc22a21	UTSW	11	53,842,575 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTCTCCAGGACAGATGCTTGTTAG -3'
(R):5'- GCCCATGAAAGCAGCAGTTC -3'

Sequencing Primer
(F):5'- GACAGATGCTTGTTAGACACAATGCC -3'
(R):5'- GCAACTGATGGGTATCTTTG -3'

Posted On

2017-01-03