Mutagenetix > Incidental Mutation

Incidental Mutation 'R0722:Slc22a22'

63573

Institutional Source

Beutler Lab

Gene Symbol

Slc22a22

Ensembl Gene

ENSMUSG00000022366

Gene Name

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

Synonyms

OAT-PG, BC026439

MMRRC Submission

038904-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R0722 (G1)

Quality Score

192

Status

Validated

Chromosome

Chromosomal Location

57107163-57341021 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to C at 57119949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022995] [ENSMUST00000110196] [ENSMUST00000137764]

AlphaFold

Q8R0S9

Predicted Effect

probably damaging
Transcript: ENSMUST00000022995
AA Change: N194D

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022995
Gene: ENSMUSG00000022366
AA Change: N194D

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:MFS_1	117	483	1.2e-26	PFAM
Pfam:Sugar_tr	144	447	1.3e-20	PFAM
Pfam:Sugar_tr	393	553	3.2e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110196
AA Change: N194D

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105825
Gene: ENSMUSG00000022366
AA Change: N194D

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:MFS_1	116	483	1.4e-26	PFAM
Pfam:Sugar_tr	145	426	1e-19	PFAM
Pfam:Sugar_tr	391	553	2.7e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000137764

SMART Domains

Protein: ENSMUSP00000123667
Gene: ENSMUSG00000022366

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC

Meta Mutation Damage Score

0.5410

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 91.7%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adap2	T	C	11: 80,047,810 (GRCm39)	F89L	possibly damaging	Het
Akr1c13	A	G	13: 4,247,931 (GRCm39)		probably null	Het
Atp10a	A	G	7: 58,465,931 (GRCm39)	I1053V	possibly damaging	Het
Bmper	G	T	9: 23,285,224 (GRCm39)	V258L	probably benign	Het
Brd4	T	C	17: 32,431,956 (GRCm39)	H636R	possibly damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Ccbe1	C	T	18: 66,217,877 (GRCm39)	C112Y	probably damaging	Het
Ccdc28b	T	A	4: 129,514,945 (GRCm39)		probably null	Het
Cd320	T	C	17: 34,065,004 (GRCm39)	S46P	possibly damaging	Het
Cfap251	T	A	5: 123,394,248 (GRCm39)	V379E	probably damaging	Het
Cfap44	G	A	16: 44,225,039 (GRCm39)	E95K	possibly damaging	Het
Clpp	T	C	17: 57,299,901 (GRCm39)	V144A	probably damaging	Het
Crtam	A	T	9: 40,903,912 (GRCm39)	C96S	probably damaging	Het
Dcst1	C	T	3: 89,261,112 (GRCm39)	R480H	probably benign	Het
Dock2	A	T	11: 34,414,970 (GRCm39)		probably benign	Het
Ermard	A	G	17: 15,242,390 (GRCm39)	T189A	probably benign	Het
Gm10840	A	G	11: 106,051,902 (GRCm39)		probably benign	Het
Gm4845	T	A	1: 141,184,598 (GRCm39)		noncoding transcript	Het
Heatr1	A	G	13: 12,420,918 (GRCm39)	E403G	probably benign	Het
Herc4	A	G	10: 63,121,844 (GRCm39)	I399V	probably null	Het
Htr1f	A	G	16: 64,746,254 (GRCm39)	I346T	probably damaging	Het
Igf2r	T	C	17: 12,934,382 (GRCm39)		probably null	Het
Jmy	G	A	13: 93,589,325 (GRCm39)	T644I	probably benign	Het
Kcnn2	T	C	18: 45,692,543 (GRCm39)	C40R	possibly damaging	Het
Krt13	T	G	11: 100,009,979 (GRCm39)	K297T	probably damaging	Het
Lrba	T	C	3: 86,513,296 (GRCm39)		probably null	Het
Lrrc8b	T	C	5: 105,627,978 (GRCm39)	V108A	possibly damaging	Het
Lrrc8c	T	A	5: 105,727,414 (GRCm39)	V26E	probably damaging	Het
Or10g6	A	G	9: 39,934,295 (GRCm39)	D202G	probably damaging	Het
Or5p6	A	G	7: 107,631,541 (GRCm39)	F3S	probably benign	Het
Pcna	A	G	2: 132,093,155 (GRCm39)		probably benign	Het
Pgm2	A	T	5: 64,265,022 (GRCm39)	R348*	probably null	Het
Pikfyve	T	G	1: 65,292,682 (GRCm39)	S1378A	probably damaging	Het
Pkp2	T	C	16: 16,064,892 (GRCm39)	V472A	probably benign	Het
Pld5	A	G	1: 175,803,081 (GRCm39)	F395L	probably benign	Het
Plekhb1	A	T	7: 100,294,810 (GRCm39)	Y169N	probably damaging	Het
Polr2c	T	A	8: 95,589,265 (GRCm39)	Y186N	probably damaging	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Prr5l	A	G	2: 101,547,819 (GRCm39)		probably benign	Het
Ptbp2	C	T	3: 119,514,570 (GRCm39)	R419Q	possibly damaging	Het
Ralgapa2	A	G	2: 146,230,451 (GRCm39)	V1038A	probably damaging	Het
Rassf2	A	G	2: 131,844,830 (GRCm39)	V204A	probably damaging	Het
Slit1	T	C	19: 41,596,874 (GRCm39)	Y1075C	probably damaging	Het
Smc5	C	A	19: 23,186,291 (GRCm39)	L1055F	probably damaging	Het
Spidr	A	G	16: 15,730,645 (GRCm39)	F620S	probably damaging	Het
Susd1	A	G	4: 59,379,749 (GRCm39)	S293P	possibly damaging	Het
Tepsin	A	G	11: 119,986,163 (GRCm39)		probably benign	Het
Vmn2r68	A	T	7: 84,870,794 (GRCm39)	L830I	possibly damaging	Het
Vtn	A	G	11: 78,391,680 (GRCm39)		probably benign	Het
Zfp267	C	T	3: 36,219,218 (GRCm39)	H414Y	probably benign	Het
Zfp280d	T	G	9: 72,219,383 (GRCm39)	S162A	possibly damaging	Het
Zfp608	T	G	18: 55,033,306 (GRCm39)	K409T	probably damaging	Het
Zfp738	A	T	13: 67,819,643 (GRCm39)	M116K	probably benign	Het

Other mutations in Slc22a22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01137:Slc22a22	APN	15	57,117,674 (GRCm39)	missense	probably damaging	1.00
IGL01140:Slc22a22	APN	15	57,126,734 (GRCm39)	missense	probably damaging	1.00
IGL02350:Slc22a22	APN	15	57,110,844 (GRCm39)	missense	probably benign	0.16
IGL02357:Slc22a22	APN	15	57,110,844 (GRCm39)	missense	probably benign	0.16
IGL03115:Slc22a22	APN	15	57,126,670 (GRCm39)	missense	probably damaging	1.00
IGL03244:Slc22a22	APN	15	57,112,948 (GRCm39)	splice site	probably benign
IGL03384:Slc22a22	APN	15	57,117,612 (GRCm39)	missense	probably benign	0.01
R0371:Slc22a22	UTSW	15	57,113,131 (GRCm39)	missense	possibly damaging	0.82
R0501:Slc22a22	UTSW	15	57,113,046 (GRCm39)	missense	probably benign	0.16
R0684:Slc22a22	UTSW	15	57,126,758 (GRCm39)	missense	probably benign	0.04
R1240:Slc22a22	UTSW	15	57,114,268 (GRCm39)	missense	probably benign	0.02
R1472:Slc22a22	UTSW	15	57,110,916 (GRCm39)	missense	probably benign	0.03
R2040:Slc22a22	UTSW	15	57,110,936 (GRCm39)	nonsense	probably null
R2125:Slc22a22	UTSW	15	57,117,636 (GRCm39)	missense	probably damaging	1.00
R3707:Slc22a22	UTSW	15	57,114,369 (GRCm39)	missense	probably damaging	1.00
R3921:Slc22a22	UTSW	15	57,119,940 (GRCm39)	missense	probably benign	0.07
R4184:Slc22a22	UTSW	15	57,119,962 (GRCm39)	nonsense	probably null
R4561:Slc22a22	UTSW	15	57,126,781 (GRCm39)	missense	probably damaging	1.00
R4626:Slc22a22	UTSW	15	57,126,734 (GRCm39)	missense	probably damaging	1.00
R4887:Slc22a22	UTSW	15	57,113,148 (GRCm39)	missense	probably benign	0.20
R5181:Slc22a22	UTSW	15	57,118,519 (GRCm39)	missense	probably benign	0.08
R5486:Slc22a22	UTSW	15	57,126,847 (GRCm39)	missense	probably damaging	0.97
R5621:Slc22a22	UTSW	15	57,122,547 (GRCm39)	missense	probably benign	0.02
R5812:Slc22a22	UTSW	15	57,119,869 (GRCm39)	critical splice donor site	probably null
R5958:Slc22a22	UTSW	15	57,126,932 (GRCm39)	missense	possibly damaging	0.95
R6517:Slc22a22	UTSW	15	57,114,365 (GRCm39)	missense	probably benign	0.28
R6555:Slc22a22	UTSW	15	57,122,527 (GRCm39)	missense	probably benign	0.08
R6724:Slc22a22	UTSW	15	57,110,928 (GRCm39)	missense	probably damaging	1.00
R6744:Slc22a22	UTSW	15	57,117,668 (GRCm39)	missense	possibly damaging	0.46
R7078:Slc22a22	UTSW	15	57,126,876 (GRCm39)	missense	probably benign	0.01
R7085:Slc22a22	UTSW	15	57,113,045 (GRCm39)	missense	probably benign	0.00
R7263:Slc22a22	UTSW	15	57,113,107 (GRCm39)	missense	probably benign
R7335:Slc22a22	UTSW	15	57,126,771 (GRCm39)	missense	probably benign	0.19
R7859:Slc22a22	UTSW	15	57,114,348 (GRCm39)	missense	probably benign	0.02
R7871:Slc22a22	UTSW	15	57,126,751 (GRCm39)	missense	possibly damaging	0.86
R8297:Slc22a22	UTSW	15	57,122,506 (GRCm39)	missense	probably damaging	1.00
R8340:Slc22a22	UTSW	15	57,127,086 (GRCm39)	critical splice acceptor site	probably null
R8358:Slc22a22	UTSW	15	57,108,243 (GRCm39)	missense	probably damaging	1.00
R8811:Slc22a22	UTSW	15	57,108,237 (GRCm39)	missense	probably damaging	1.00
R9461:Slc22a22	UTSW	15	57,127,052 (GRCm39)	missense	probably damaging	0.99
R9461:Slc22a22	UTSW	15	57,108,342 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2013-07-30