Mutagenetix > Incidental Mutation

Incidental Mutation 'R9418:Slc22a19'

712198

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R9418 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7650440-7688675 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 7660210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 400 (M400K)

Ref Sequence

ENSEMBL: ENSMUSP00000025666 (fasta)

Gene Model

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

AlphaFold

Q8VCA0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025666
AA Change: M400K

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025666
Gene: ENSMUSG00000024757
AA Change: M400K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	A	5: 138,645,317 (GRCm39)	G401R	probably damaging	Het
Adgrf5	G	A	17: 43,737,864 (GRCm39)	V233I	probably benign	Het
Ankrd34b	A	G	13: 92,575,232 (GRCm39)	K155E	probably damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Ccdc141	A	T	2: 76,871,766 (GRCm39)	H839Q	probably benign	Het
Ccdc18	T	C	5: 108,303,669 (GRCm39)	L251P	probably damaging	Het
Ciita	G	T	16: 10,319,765 (GRCm39)	E63*	probably null	Het
Cmya5	T	C	13: 93,226,209 (GRCm39)	T2960A	probably benign	Het
Cyp2b13	A	T	7: 25,761,110 (GRCm39)	I56F	probably benign	Het
Dcaf4	A	T	12: 83,586,606 (GRCm39)	Y422F	probably benign	Het
Dhrs7b	A	T	11: 60,746,594 (GRCm39)	I228F	probably damaging	Het
Drosha	T	C	15: 12,885,167 (GRCm39)	S853P	probably benign	Het
Dzank1	C	T	2: 144,355,408 (GRCm39)	V96M	probably damaging	Het
Fap	G	A	2: 62,385,181 (GRCm39)	Q65*	probably null	Het
Fbxo47	T	A	11: 97,747,067 (GRCm39)	N333I	possibly damaging	Het
Fem1al	C	T	11: 29,774,632 (GRCm39)	C275Y	probably damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Gpr171	T	C	3: 59,004,999 (GRCm39)	T259A	possibly damaging	Het
Hectd2	T	A	19: 36,589,574 (GRCm39)	S595T	probably benign	Het
Hexa	A	G	9: 59,464,592 (GRCm39)	I161V	probably benign	Het
Hira	A	G	16: 18,770,025 (GRCm39)	T777A	probably benign	Het
Il2ra	T	C	2: 11,689,203 (GRCm39)	F244S	possibly damaging	Het
Kcne3	A	G	7: 99,833,385 (GRCm39)	M1V	probably null	Het
Kcnj1	G	A	9: 32,308,203 (GRCm39)	C209Y	probably damaging	Het
Kcnj2	A	T	11: 110,963,357 (GRCm39)	I250F	probably damaging	Het
Krt26	C	T	11: 99,228,741 (GRCm39)		probably benign	Het
Leng9	T	C	7: 4,151,354 (GRCm39)	T441A	probably benign	Het
Lingo2	T	C	4: 35,709,035 (GRCm39)	H315R	probably benign	Het
Lrrc7	A	T	3: 157,908,023 (GRCm39)	S266T	possibly damaging	Het
Mab21l4	A	C	1: 93,087,710 (GRCm39)	L48V	probably benign	Het
Mib1	A	G	18: 10,812,064 (GRCm39)	D987G	probably damaging	Het
Mrc1	T	C	2: 14,234,358 (GRCm39)	V12A	probably benign	Het
Mta1	G	T	12: 113,094,987 (GRCm39)	R415L	probably damaging	Het
Mug2	T	A	6: 122,017,700 (GRCm39)	V479E	probably benign	Het
Mylk3	C	A	8: 86,091,444 (GRCm39)	M120I	possibly damaging	Het
Or13c7c	C	T	4: 43,835,879 (GRCm39)	V204M	probably benign	Het
Or2v2	G	T	11: 49,004,484 (GRCm39)	P23Q	probably benign	Het
Otog	A	T	7: 45,938,024 (GRCm39)	Q1911L	probably benign	Het
Pcdh20	C	T	14: 88,705,455 (GRCm39)	C615Y	probably benign	Het
Pde1b	A	G	15: 103,433,464 (GRCm39)	H294R	probably damaging	Het
Phldb3	A	T	7: 24,328,354 (GRCm39)	I633F	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pip5k1b	A	G	19: 24,327,581 (GRCm39)	V425A	probably benign	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Rab23	A	T	1: 33,777,424 (GRCm39)	E179D	probably benign	Het
Slc12a6	C	A	2: 112,174,555 (GRCm39)	L522I		Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Spsb2	C	A	6: 124,786,282 (GRCm39)	A5D	probably damaging	Het
Tgfb1	A	G	7: 25,391,952 (GRCm39)	E169G	probably damaging	Het
Tm4sf5	T	A	11: 70,401,134 (GRCm39)	C117S	probably damaging	Het
Tmcc3	T	C	10: 94,415,087 (GRCm39)	L294P	possibly damaging	Het
Ubc	T	C	5: 125,464,466 (GRCm39)	Y287C	probably damaging	Het
Uroc1	G	T	6: 90,313,880 (GRCm39)	V56F	probably benign	Het
Ush1c	A	T	7: 45,872,292 (GRCm39)	F237I	probably damaging	Het
Xxylt1	A	T	16: 30,826,624 (GRCm39)	Y230*	probably null	Het
Zfp467	A	T	6: 48,415,990 (GRCm39)	C221S	probably 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
R6062:Slc22a19	UTSW	19	7,651,647 (GRCm39)	missense	probably damaging	1.00
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
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'- ATGTCCTCAATGCCTAGACTG -3'
(R):5'- GACAACCATTCCAAGCCTTATGATATG -3'

Sequencing Primer
(F):5'- ATGTCCTCAATGCCTAGACTGCTTAC -3'
(R):5'- CCAAGCCTTATGATATGACATTTTTC -3'

Posted On

2022-05-16