Mutagenetix > Incidental Mutation

Incidental Mutation 'R6062:Slc22a19'

483877

Institutional Source

Beutler Lab

Gene Symbol

Slc22a19

Ensembl Gene

ENSMUSG00000024757

Gene Name

solute carrier family 22 (organic anion transporter), member 19

Synonyms

Slc22a9, Oat5, D630043A20Rik

MMRRC Submission

044227-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R6062 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7650440-7688675 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7651647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 520 (N520S)

Ref Sequence

ENSEMBL: ENSMUSP00000025666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025666]

AlphaFold

Q8VCA0

Predicted Effect

probably damaging
Transcript: ENSMUST00000025666
AA Change: N520S

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

SMART Domains

Protein: ENSMUSP00000025666
Gene: ENSMUSG00000024757
AA Change: N520S

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
Pfam:Sugar_tr	103	528	6.3e-22	PFAM
Pfam:MFS_1	122	378	2.4e-20	PFAM
Pfam:MFS_1	377	549	1.7e-10	PFAM

Meta Mutation Damage Score

0.2682

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

98% (56/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC22A24 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atat1	T	A	17: 36,219,456 (GRCm39)	Q136L	probably damaging	Het
Atm	A	G	9: 53,399,887 (GRCm39)	L1531P	probably damaging	Het
Brca2	G	A	5: 150,480,354 (GRCm39)	R2708H	probably damaging	Het
Cand1	G	A	10: 119,053,915 (GRCm39)	A141V	possibly damaging	Het
Cdcp2	T	C	4: 106,959,689 (GRCm39)	S35P	probably damaging	Het
Ces4a	G	A	8: 105,864,806 (GRCm39)		probably null	Het
Colec10	T	A	15: 54,323,203 (GRCm39)	M142K	possibly damaging	Het
Crtc1	G	T	8: 70,858,839 (GRCm39)	D90E	probably damaging	Het
Csmd1	T	C	8: 16,142,319 (GRCm39)	E1528G	possibly damaging	Het
Csnk2a2	A	G	8: 96,184,097 (GRCm39)	V154A	possibly damaging	Het
Daglb	T	C	5: 143,480,358 (GRCm39)	I454T	probably benign	Het
Dtna	C	A	18: 23,755,113 (GRCm39)	N478K	possibly damaging	Het
E330034G19Rik	A	T	14: 24,343,448 (GRCm39)		probably benign	Het
Ecpas	G	T	4: 58,826,453 (GRCm39)	S1038Y	possibly damaging	Het
Eefsec	A	T	6: 88,332,611 (GRCm39)	S200T	probably benign	Het
Enthd1	T	A	15: 80,336,916 (GRCm39)	D506V	probably damaging	Het
Erbb2	A	G	11: 98,324,075 (GRCm39)	Y736C	probably damaging	Het
Gabrg1	A	G	5: 70,938,056 (GRCm39)	C183R	probably damaging	Het
Ginm1	T	A	10: 7,651,097 (GRCm39)	H103L	probably benign	Het
Golgb1	C	A	16: 36,735,033 (GRCm39)	Q1427K	possibly damaging	Het
Grb14	G	T	2: 64,852,964 (GRCm39)	Q9K	possibly damaging	Het
Hbp1	A	T	12: 31,987,246 (GRCm39)	M192K	probably damaging	Het
Herpud2	A	T	9: 25,020,284 (GRCm39)	D357E	probably damaging	Het
Idi1	A	G	13: 8,937,541 (GRCm39)	S111G	probably damaging	Het
Lrrc32	T	C	7: 98,147,748 (GRCm39)	V176A	probably benign	Het
Matn1	T	A	4: 130,679,277 (GRCm39)	D310E	probably benign	Het
Mbtps1	A	T	8: 120,257,830 (GRCm39)	L469Q	possibly damaging	Het
Muc4	A	G	16: 32,579,682 (GRCm39)	D2417G	unknown	Het
Myo7b	T	C	18: 32,101,043 (GRCm39)	T1551A	possibly damaging	Het
Neb	A	G	2: 52,075,293 (GRCm39)	M224T	probably benign	Het
Ola1	A	T	2: 73,029,842 (GRCm39)	D92E	probably damaging	Het
Or1e28-ps1	A	C	11: 73,615,386 (GRCm39)	C155G	unknown	Het
Or4l1	A	T	14: 50,166,119 (GRCm39)	M294K	probably damaging	Het
Or5ar1	T	G	2: 85,671,458 (GRCm39)	I226L	probably benign	Het
Or8b48	T	A	9: 38,450,440 (GRCm39)	M83K	probably damaging	Het
Otud4	T	C	8: 80,400,525 (GRCm39)	Y1080H	probably damaging	Het
Plce1	G	A	19: 38,513,195 (GRCm39)	A165T	probably benign	Het
Prelid2	T	C	18: 42,045,530 (GRCm39)	I127V	probably benign	Het
Rab35	A	G	5: 115,778,147 (GRCm39)	I38V	probably damaging	Het
Rab3d	T	C	9: 21,821,815 (GRCm39)	T209A	probably benign	Het
Rapgef1	A	G	2: 29,590,744 (GRCm39)	E321G	probably damaging	Het
Rem1	T	C	2: 152,470,017 (GRCm39)	M1T	probably null	Het
Rgsl1	T	C	1: 153,675,618 (GRCm39)	K181R	possibly damaging	Het
Scel	C	A	14: 103,822,572 (GRCm39)	N395K	possibly damaging	Het
Septin9	A	G	11: 117,181,626 (GRCm39)	E142G	possibly damaging	Het
Shcbp1	A	C	8: 4,814,905 (GRCm39)	M191R	probably benign	Het
Slc28a1	C	T	7: 80,765,311 (GRCm39)	R9*	probably null	Het
Slc2a7	T	C	4: 150,252,884 (GRCm39)	V508A	probably benign	Het
Slc8a3	G	A	12: 81,361,124 (GRCm39)	P565L	probably damaging	Het
Svil	T	G	18: 5,106,724 (GRCm39)	V1855G	probably damaging	Het
Tenm3	T	G	8: 48,796,441 (GRCm39)	I455L	possibly damaging	Het
Tmem267	T	C	13: 120,070,767 (GRCm39)	S141P	probably damaging	Het
Tnn	T	A	1: 159,925,848 (GRCm39)	D1383V	probably damaging	Het
Usp9y	G	T	Y: 1,454,199 (GRCm39)	Q23K	probably benign	Het
Vmn1r46	T	C	6: 89,953,241 (GRCm39)	I30T	possibly damaging	Het
Zfp382	T	C	7: 29,833,015 (GRCm39)	L222P	probably damaging	Het
Zfp950	T	A	19: 61,108,863 (GRCm39)	K73N	possibly damaging	Het

Other mutations in Slc22a19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00852:Slc22a19	APN	19	7,660,323 (GRCm39)	missense	probably benign	0.00
IGL01126:Slc22a19	APN	19	7,651,648 (GRCm39)	missense	possibly damaging	0.65
IGL01349:Slc22a19	APN	19	7,651,792 (GRCm39)	missense	probably benign	0.36
IGL01409:Slc22a19	APN	19	7,688,495 (GRCm39)	missense	probably benign	0.00
IGL01529:Slc22a19	APN	19	7,660,300 (GRCm39)	missense	probably damaging	0.97
IGL03382:Slc22a19	APN	19	7,659,227 (GRCm39)	missense	probably benign	0.01
R0269:Slc22a19	UTSW	19	7,686,986 (GRCm39)	splice site	probably benign
R0464:Slc22a19	UTSW	19	7,660,278 (GRCm39)	missense	probably benign	0.44
R1866:Slc22a19	UTSW	19	7,688,506 (GRCm39)	missense	probably damaging	1.00
R1975:Slc22a19	UTSW	19	7,661,224 (GRCm39)	splice site	probably benign
R2184:Slc22a19	UTSW	19	7,687,026 (GRCm39)	missense	probably benign
R2226:Slc22a19	UTSW	19	7,661,215 (GRCm39)	missense	possibly damaging	0.92
R2894:Slc22a19	UTSW	19	7,670,169 (GRCm39)	missense	probably benign	0.43
R4751:Slc22a19	UTSW	19	7,668,510 (GRCm39)	missense	possibly damaging	0.65
R5016:Slc22a19	UTSW	19	7,651,737 (GRCm39)	missense	probably benign	0.07
R5026:Slc22a19	UTSW	19	7,651,737 (GRCm39)	missense	probably benign	0.07
R5108:Slc22a19	UTSW	19	7,688,536 (GRCm39)	missense	probably benign
R5149:Slc22a19	UTSW	19	7,688,503 (GRCm39)	missense	probably damaging	1.00
R5714:Slc22a19	UTSW	19	7,688,387 (GRCm39)	missense	probably damaging	0.98
R6091:Slc22a19	UTSW	19	7,688,428 (GRCm39)	missense	probably benign	0.26
R6982:Slc22a19	UTSW	19	7,660,334 (GRCm39)	missense	probably benign	0.08
R7624:Slc22a19	UTSW	19	7,671,183 (GRCm39)	missense	probably benign	0.44
R7624:Slc22a19	UTSW	19	7,650,668 (GRCm39)	nonsense	probably null
R7678:Slc22a19	UTSW	19	7,688,302 (GRCm39)	missense	possibly damaging	0.88
R7743:Slc22a19	UTSW	19	7,661,201 (GRCm39)	missense	possibly damaging	0.74
R7770:Slc22a19	UTSW	19	7,681,360 (GRCm39)	splice site	probably null
R8769:Slc22a19	UTSW	19	7,670,086 (GRCm39)	missense	possibly damaging	0.89
R8861:Slc22a19	UTSW	19	7,660,324 (GRCm39)	missense	possibly damaging	0.55
R9418:Slc22a19	UTSW	19	7,660,210 (GRCm39)	missense	possibly damaging	0.65
R9548:Slc22a19	UTSW	19	7,659,219 (GRCm39)	critical splice donor site	probably null
R9742:Slc22a19	UTSW	19	7,688,281 (GRCm39)	missense	probably benign	0.00
X0026:Slc22a19	UTSW	19	7,688,223 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTAGAGTTTCCAGACACCTATG -3'
(R):5'- TTATGCTCCAAGGGCAACTG -3'

Sequencing Primer
(F):5'- GGATGTACAAAAGGTCCCTATGCC -3'
(R):5'- TCCAAGGGCAACTGCTTTAG -3'

Posted On

2017-07-14