Mutagenetix > Incidental Mutation

Incidental Mutation 'R9601:Slc22a21'

726369

Institutional Source

Beutler Lab

Gene Symbol

Slc22a21

Ensembl Gene

ENSMUSG00000063652

Gene Name

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

Synonyms

Octn3, Slc22a9

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9601 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53840791-53871158 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53850051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 268 (V268E)

Ref Sequence

ENSEMBL: ENSMUSP00000075814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076493] [ENSMUST00000124221] [ENSMUST00000143352]

AlphaFold

Q9WTN6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076493
AA Change: V268E

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075814
Gene: ENSMUSG00000063652
AA Change: V268E

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

probably benign
Transcript: ENSMUST00000124221

SMART Domains

Protein: ENSMUSP00000123180
Gene: ENSMUSG00000063652

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143352

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd6	T	C	14: 8,049,808 (GRCm38)	L246S	possibly damaging	Het
Ahcyl	A	G	16: 45,975,035 (GRCm39)	I114T	probably benign	Het
Arhgap22	C	A	14: 33,020,727 (GRCm39)	H107N	probably damaging	Het
Atp6v0a2	G	A	5: 124,790,257 (GRCm39)	G480D	probably damaging	Het
Baz2b	T	C	2: 59,731,847 (GRCm39)	T2064A	possibly damaging	Het
Bop1	T	A	15: 76,338,688 (GRCm39)	N449I	probably benign	Het
C8g	C	T	2: 25,388,916 (GRCm39)		probably null	Het
Camp	T	G	9: 109,677,504 (GRCm39)	T110P		Het
Ccdc141	T	C	2: 76,885,073 (GRCm39)	T523A	possibly damaging	Het
Ccdc157	A	T	11: 4,094,598 (GRCm39)	I578N	probably damaging	Het
Ccdc187	C	T	2: 26,143,445 (GRCm39)	A1298T	possibly damaging	Het
Cdc20	C	T	4: 118,290,716 (GRCm39)	W428*	probably null	Het
Chd9	A	T	8: 91,732,360 (GRCm39)	R1293*	probably null	Het
Clca3a1	C	T	3: 144,453,310 (GRCm39)	G505S	probably benign	Het
Clptm1	C	A	7: 19,369,763 (GRCm39)	W382C	probably damaging	Het
Cnot1	A	T	8: 96,482,835 (GRCm39)	N739K	probably benign	Het
Cntnap5a	T	C	1: 116,508,217 (GRCm39)	I1243T	probably damaging	Het
Col12a1	T	G	9: 79,525,034 (GRCm39)	D2709A	probably damaging	Het
Cpm	T	C	10: 117,511,999 (GRCm39)		probably null	Het
Ctsd	C	A	7: 141,936,373 (GRCm39)	G143C	probably damaging	Het
Cux2	A	G	5: 122,025,461 (GRCm39)	V69A	possibly damaging	Het
Cyp2c66	A	T	19: 39,175,054 (GRCm39)	I485L	probably benign	Het
Cyp4a29	T	C	4: 115,105,772 (GRCm39)	V158A	probably damaging	Het
Dbx1	A	T	7: 49,282,403 (GRCm39)	D267E	probably damaging	Het
Dop1b	A	G	16: 93,544,531 (GRCm39)	Y224C	possibly damaging	Het
Dsg3	T	A	18: 20,666,578 (GRCm39)	C596S	probably damaging	Het
Fcgbpl1	G	A	7: 27,853,805 (GRCm39)	V1590I	possibly damaging	Het
Fgd2	G	A	17: 29,593,860 (GRCm39)	V456I	probably benign	Het
Gabra1	A	T	11: 42,026,401 (GRCm39)	I297N	probably damaging	Het
Grid1	A	G	14: 35,167,814 (GRCm39)	E446G	probably damaging	Het
H2bc12	T	C	13: 22,220,393 (GRCm39)	S113P	probably benign	Het
Hmmr	A	T	11: 40,598,210 (GRCm39)	Y667*	probably null	Het
Katnip	A	G	7: 125,442,092 (GRCm39)	Q693R	probably benign	Het
Klhl25	A	G	7: 75,515,757 (GRCm39)	D221G	probably damaging	Het
Krtcap2	T	C	3: 89,156,449 (GRCm39)		probably null	Het
Lipi	T	A	16: 75,352,706 (GRCm39)	N377I	possibly damaging	Het
Lrp2	C	A	2: 69,289,928 (GRCm39)	C3637F	probably damaging	Het
Mrgprh	T	C	17: 13,096,264 (GRCm39)	F168S	possibly damaging	Het
Naip6	T	C	13: 100,436,961 (GRCm39)	T521A	probably benign	Het
Nkpd1	A	T	7: 19,257,462 (GRCm39)	I414F	probably damaging	Het
Or4c99	T	A	2: 88,330,314 (GRCm39)	M295K	probably damaging	Het
Or52z13	A	T	7: 103,246,598 (GRCm39)	D25V	probably benign	Het
Pcdhb21	A	T	18: 37,648,385 (GRCm39)	I505F	probably damaging	Het
Plxna1	C	T	6: 89,308,253 (GRCm39)	R1278Q	probably damaging	Het
Pofut2	T	C	10: 77,095,220 (GRCm39)	S22P	possibly damaging	Het
Prrc2b	C	A	2: 32,090,953 (GRCm39)	R442S	probably damaging	Het
Sema3e	T	A	5: 14,302,397 (GRCm39)	F641I	possibly damaging	Het
Sfswap	G	A	5: 129,618,463 (GRCm39)	V466I	possibly damaging	Het
Slc6a17	T	C	3: 107,380,930 (GRCm39)	D525G	possibly damaging	Het
Spata21	C	T	4: 140,822,467 (GRCm39)	T91I	possibly damaging	Het
Spryd7	T	G	14: 61,783,228 (GRCm39)	H98P	probably benign	Het
Sptb	G	T	12: 76,667,763 (GRCm39)	T778K	probably damaging	Het
Syne1	C	T	10: 5,209,270 (GRCm39)	R3411Q	probably benign	Het
Trank1	A	G	9: 111,202,193 (GRCm39)	I1607V	probably benign	Het
Ttll1	T	C	15: 83,380,516 (GRCm39)	D283G	probably benign	Het
Ufl1	G	A	4: 25,275,807 (GRCm39)	R199W	probably benign	Het
Vmn1r159	A	G	7: 22,542,616 (GRCm39)	S139P	probably damaging	Het
Vmn2r97	A	G	17: 19,134,770 (GRCm39)	I63V	probably benign	Het
Vps13a	T	C	19: 16,623,337 (GRCm39)	S2775G	possibly damaging	Het
Zfp992	C	T	4: 146,551,976 (GRCm39)	H566Y	probably 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
R5698:Slc22a21	UTSW	11	53,842,175 (GRCm39)	missense	probably benign	0.04
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
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'- GCTTGCAGCAAATTCTTAGCTTAAC -3'
(R):5'- TTGACTCTTCCTTGTTTTGAACAGG -3'

Sequencing Primer
(F):5'- GCAGAAGAGATGCCTACTTATGTCTG -3'
(R):5'- GGAACAGAAATGCTTTCCAAGTC -3'

Posted On

2022-10-06