Mutagenetix > Incidental Mutation

Incidental Mutation 'R4291:Slc22a21'

323071

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

041081-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4291 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53840791-53871158 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53860329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 34 (D34G)

Ref Sequence

ENSEMBL: ENSMUSP00000114966 (fasta)

Gene Model

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

AlphaFold

Q9WTN6

Predicted Effect

probably damaging
Transcript: ENSMUST00000076493
AA Change: D165G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075814
Gene: ENSMUSG00000063652
AA Change: D165G

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: ENSMUST00000119198

Predicted Effect

probably damaging
Transcript: ENSMUST00000124221
AA Change: D165G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123180
Gene: ENSMUSG00000063652
AA Change: D165G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000143352
AA Change: D34G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.9610

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (62/62)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,120,337 (GRCm39)	F27S	probably benign	Het
AK157302	T	A	13: 21,679,715 (GRCm39)	D80E	probably damaging	Het
Amz2	T	C	11: 109,324,881 (GRCm39)		probably null	Het
Angel1	A	G	12: 86,767,057 (GRCm39)	Y440H	probably damaging	Het
Ankrd34c	T	A	9: 89,611,817 (GRCm39)	K175*	probably null	Het
Arid1b	C	A	17: 5,090,938 (GRCm39)	S546R	probably damaging	Het
Atf6b	T	A	17: 34,871,648 (GRCm39)	M428K	probably benign	Het
Brpf3	G	A	17: 29,042,949 (GRCm39)	V997M	probably benign	Het
Cckar	A	G	5: 53,863,839 (GRCm39)	S41P	probably benign	Het
Cd96	T	A	16: 45,892,112 (GRCm39)	Q292L	probably damaging	Het
Cdh18	C	A	15: 22,714,637 (GRCm39)		probably benign	Het
Cfb	T	G	17: 35,080,114 (GRCm39)	D122A	possibly damaging	Het
Copa	G	T	1: 171,919,964 (GRCm39)		probably benign	Het
Ctnna2	T	A	6: 76,859,728 (GRCm39)	K854N	probably damaging	Het
Cwh43	G	A	5: 73,569,275 (GRCm39)	V106M	probably benign	Het
Dact2	C	T	17: 14,416,833 (GRCm39)	E456K	probably benign	Het
Dnah8	T	C	17: 30,967,533 (GRCm39)	S2582P	probably benign	Het
Eef2	A	G	10: 81,015,414 (GRCm39)	T312A	probably benign	Het
Enpep	T	A	3: 129,063,966 (GRCm39)	R934*	probably null	Het
Fam240b	A	T	13: 64,629,627 (GRCm39)	M63K	possibly damaging	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Gm6124	A	T	7: 38,872,195 (GRCm39)		noncoding transcript	Het
Gsn	G	A	2: 35,180,432 (GRCm39)	V147I	probably benign	Het
Gucy1a1	A	T	3: 82,002,066 (GRCm39)	F671Y	possibly damaging	Het
Hectd3	A	G	4: 116,852,889 (GRCm39)	E97G	probably damaging	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Krba1	C	T	6: 48,392,599 (GRCm39)	P802S	possibly damaging	Het
Lca5l	C	T	16: 95,979,974 (GRCm39)	S52N	probably damaging	Het
Lmf1	T	C	17: 25,873,455 (GRCm39)	L320P	probably damaging	Het
Map3k4	G	T	17: 12,474,147 (GRCm39)	Q845K	probably benign	Het
Mapkapk3	T	C	9: 107,136,131 (GRCm39)		probably benign	Het
Mccc1	A	G	3: 36,044,217 (GRCm39)	V203A	probably damaging	Het
Mcm9	C	A	10: 53,423,668 (GRCm39)	M677I	probably benign	Het
Mkrn2	A	G	6: 115,594,395 (GRCm39)	T369A	possibly damaging	Het
Mthfr	C	A	4: 148,139,949 (GRCm39)	N623K	probably damaging	Het
Myh2	T	C	11: 67,071,985 (GRCm39)	V571A	probably benign	Het
Nom1	G	A	5: 29,651,370 (GRCm39)		probably null	Het
Nucb1	T	A	7: 45,144,704 (GRCm39)	D283V	probably damaging	Het
Or12e8	G	A	2: 87,188,419 (GRCm39)	M210I	probably benign	Het
Or14c46	A	T	7: 85,918,968 (GRCm39)	F10I	probably damaging	Het
Or2v2	T	A	11: 49,004,254 (GRCm39)	I100L	probably benign	Het
Pcdhb1	A	C	18: 37,398,470 (GRCm39)	L140F	probably damaging	Het
Ptgs2	G	A	1: 149,976,002 (GRCm39)	A10T	probably benign	Het
Rfx3	C	T	19: 27,777,632 (GRCm39)	R497Q	probably damaging	Het
Rps6kb1	A	T	11: 86,410,702 (GRCm39)		probably benign	Het
Spata13	T	A	14: 60,947,004 (GRCm39)	M684K	probably damaging	Het
Tet3	T	C	6: 83,350,181 (GRCm39)	T961A	probably damaging	Het
Ttc27	T	C	17: 75,163,474 (GRCm39)	L694P	probably damaging	Het
Vmn1r238	G	A	18: 3,123,214 (GRCm39)	Q67*	probably null	Het
Vmn2r101	A	T	17: 19,832,303 (GRCm39)	R766S	probably damaging	Het
Vwf	A	T	6: 125,619,285 (GRCm39)	Y1321F	probably damaging	Het
Wfdc1	C	A	8: 120,406,194 (GRCm39)	P103Q	probably damaging	Het
Zfp488	C	A	14: 33,692,851 (GRCm39)	C104F	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
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
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'- ACTCAGGTTCCTTTGTTCAGTG -3'
(R):5'- GAGAGGCCACCTGTTTTCTC -3'

Sequencing Primer
(F):5'- AGGTTCCTTTGTTCAGTGAGGATTAG -3'
(R):5'- CATTGCTGCCCAGGTGAGTC -3'

Posted On

2015-06-20