Mutagenetix > Incidental Mutation

Incidental Mutation 'R6845:Slc22a21'

534724

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

044951-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6845 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53840791-53871158 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53870466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 73 (D73G)

Ref Sequence

ENSEMBL: ENSMUSP00000123180 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020586] [ENSMUST00000076493] [ENSMUST00000124221]

AlphaFold

Q9WTN6

Predicted Effect

probably benign
Transcript: ENSMUST00000020586

SMART Domains

Protein: ENSMUSP00000020586
Gene: ENSMUSG00000020334

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Sugar_tr	60	524	2.7e-30	PFAM
Pfam:MFS_1	139	478	1.7e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000076493
AA Change: D73G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000075814
Gene: ENSMUSG00000063652
AA Change: D73G

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
AA Change: D73G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000123180
Gene: ENSMUSG00000063652
AA Change: D73G

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

Meta Mutation Damage Score

0.0845

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

95% (53/56)

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
Aadacl2fm2	C	A	3: 59,659,539 (GRCm39)	P331T	probably damaging	Het
Adam6a	T	C	12: 113,507,717 (GRCm39)	L30P	possibly damaging	Het
Cabin1	G	A	10: 75,557,342 (GRCm39)	R1099W	probably damaging	Het
Cdon	C	T	9: 35,398,252 (GRCm39)	Q990*	probably null	Het
Cit	T	A	5: 116,122,947 (GRCm39)	L1421Q	probably damaging	Het
Cplane1	T	C	15: 8,251,388 (GRCm39)	S1887P	possibly damaging	Het
Ddx27	T	C	2: 166,864,016 (GRCm39)	C242R	probably damaging	Het
Dlgap5	A	T	14: 47,654,020 (GRCm39)	V3E	possibly damaging	Het
Dnah6	A	T	6: 73,110,525 (GRCm39)	F1687I	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Duoxa1	A	T	2: 122,135,672 (GRCm39)	Y142*	probably null	Het
F3	A	G	3: 121,526,124 (GRCm39)	K229R	probably benign	Het
Fance	A	G	17: 28,536,565 (GRCm39)	R42G	probably damaging	Het
Foxs1	T	C	2: 152,774,619 (GRCm39)	K145E	probably benign	Het
Gpd1l	T	C	9: 114,762,785 (GRCm39)	M1V	probably null	Het
Gpr149	T	A	3: 62,511,942 (GRCm39)	H19L	possibly damaging	Het
Hmgcs1	T	C	13: 120,162,674 (GRCm39)	Y213H	probably damaging	Het
Htra1	C	A	7: 130,538,021 (GRCm39)		probably benign	Het
Il20ra	A	G	10: 19,635,059 (GRCm39)	I433M	probably benign	Het
Il3ra	G	C	14: 14,346,517 (GRCm38)		probably null	Het
Kif11	C	T	19: 37,392,565 (GRCm39)	L499F	probably damaging	Het
Kifc3	A	G	8: 95,835,307 (GRCm39)	M189T	probably benign	Het
Klk1b3	G	A	7: 43,851,127 (GRCm39)	A187T	probably benign	Het
Klre1	T	C	6: 129,561,202 (GRCm39)	S188P	probably damaging	Het
Krtap4-13	G	A	11: 99,700,192 (GRCm39)		probably benign	Het
Lgi4	A	T	7: 30,760,510 (GRCm39)	T22S	probably damaging	Het
Lrp10	C	T	14: 54,707,145 (GRCm39)	R661C	probably damaging	Het
Lrrtm1	A	G	6: 77,220,864 (GRCm39)	D107G	probably benign	Het
Mad1l1	C	A	5: 139,994,924 (GRCm39)	A701S	probably damaging	Het
Mia2	T	A	12: 59,231,064 (GRCm39)	Y1237*	probably null	Het
Mpp4	T	C	1: 59,183,963 (GRCm39)	D278G	probably benign	Het
Myh6	G	A	14: 55,182,206 (GRCm39)	S1734L	probably benign	Het
Nbeal1	C	T	1: 60,320,469 (GRCm39)	R2021*	probably null	Het
Nol4l	T	C	2: 153,258,582 (GRCm39)	T602A	probably benign	Het
Or5b109	T	A	19: 13,211,997 (GRCm39)	C128S	probably damaging	Het
Pcdh15	A	T	10: 74,466,465 (GRCm39)	H894L	probably benign	Het
Phldb1	A	T	9: 44,627,359 (GRCm39)	I362N	probably damaging	Het
Plcxd2	T	A	16: 45,830,223 (GRCm39)		probably benign	Het
Ppp1r13l	G	T	7: 19,105,323 (GRCm39)	R365L	probably damaging	Het
Pramel16	T	C	4: 143,676,394 (GRCm39)	T237A	probably benign	Het
Rfc1	A	T	5: 65,468,459 (GRCm39)	S85T	possibly damaging	Het
Rnf133	A	G	6: 23,649,341 (GRCm39)	V196A	possibly damaging	Het
Shank3	T	C	15: 89,432,528 (GRCm39)	V1016A	probably benign	Het
Slc34a2	T	A	5: 53,226,511 (GRCm39)	F545I	probably damaging	Het
Slc4a7	T	A	14: 14,775,000 (GRCm38)	M810K	probably damaging	Het
Ss18	A	T	18: 14,788,221 (GRCm39)	M83K	possibly damaging	Het
Tkfc	T	C	19: 10,576,696 (GRCm39)	R94G	probably damaging	Het
Tpp2	T	A	1: 44,017,668 (GRCm39)	C757*	probably null	Het
Trav13n-4	T	C	14: 53,599,856 (GRCm39)	L11P	probably damaging	Het
Trpm4	T	C	7: 44,971,753 (GRCm39)	M138V	possibly damaging	Het
Utp18	G	A	11: 93,776,582 (GRCm39)		probably benign	Het
Vps33a	A	G	5: 123,673,335 (GRCm39)	V417A	probably benign	Het
Zfp207	C	T	11: 80,286,317 (GRCm39)		probably benign	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
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'- TCTGTCACGATGGTGGACAG -3'
(R):5'- GCCGACTCTATGCTTGACTAC -3'

Sequencing Primer
(F):5'- GGAAGATGTCCTTGTCGTACTCC -3'
(R):5'- GACTCTATGCTTGACTACGACGAG -3'

Posted On

2018-09-12