Mutagenetix > Incidental Mutation

Incidental Mutation 'R4626:Slc22a22'

348803

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

041891-MU

Accession Numbers

Essential gene?

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

Stock #

R4626 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57107163-57341021 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57126734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 93 (T93A)

Ref Sequence

ENSEMBL: ENSMUSP00000123667 (fasta)

Gene Model

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

AlphaFold

Q8R0S9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022995
AA Change: T112A

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022995
Gene: ENSMUSG00000022366
AA Change: T112A

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

possibly damaging
Transcript: ENSMUST00000110196
AA Change: T112A

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105825
Gene: ENSMUSG00000022366
AA Change: T112A

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 damaging
Transcript: ENSMUST00000137764
AA Change: T93A

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

SMART Domains

Protein: ENSMUSP00000123667
Gene: ENSMUSG00000022366
AA Change: T93A

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	A	C	11: 84,313,784 (GRCm39)	*527G	probably null	Het
Abca17	A	T	17: 24,540,058 (GRCm39)	I390N	probably damaging	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd49	A	C	9: 14,693,936 (GRCm39)	L77R	probably damaging	Het
Ap3b1	T	A	13: 94,540,586 (GRCm39)	N169K	possibly damaging	Het
Arhgap39	A	C	15: 76,621,837 (GRCm39)	F255V	possibly damaging	Het
Atp1a3	T	A	7: 24,698,193 (GRCm39)	N171I	possibly damaging	Het
Atp9a	T	C	2: 168,481,863 (GRCm39)	D953G	probably damaging	Het
Atxn1	T	C	13: 45,720,575 (GRCm39)	Y440C	probably damaging	Het
Bccip	T	C	7: 133,322,457 (GRCm39)	Y268H	possibly damaging	Het
Brms1l	C	A	12: 55,909,958 (GRCm39)	P243T	probably benign	Het
Btbd10	T	C	7: 112,927,605 (GRCm39)	E250G	probably damaging	Het
Cacna1e	T	C	1: 154,358,294 (GRCm39)		probably null	Het
Cfhr2	A	T	1: 139,741,314 (GRCm39)	N220K	probably damaging	Het
Csnk1g2	C	A	10: 80,475,648 (GRCm39)	A405E	probably damaging	Het
D5Ertd579e	T	C	5: 36,771,903 (GRCm39)	I831V	possibly damaging	Het
F2	T	A	2: 91,461,015 (GRCm39)	N239I	probably benign	Het
Fbln5	T	A	12: 101,727,086 (GRCm39)	D301V	probably damaging	Het
Fbn2	A	T	18: 58,146,819 (GRCm39)	C2692*	probably null	Het
Fhdc1	C	T	3: 84,381,557 (GRCm39)	D34N	probably damaging	Het
Galnt13	T	A	2: 54,747,878 (GRCm39)	M253K	probably damaging	Het
Gpc6	C	A	14: 118,202,255 (GRCm39)	Y488*	probably null	Het
Grm5	G	T	7: 87,779,361 (GRCm39)	G934C	probably damaging	Het
Gys1	T	C	7: 45,088,958 (GRCm39)	L119S	probably damaging	Het
H2-T15	CTGGGTG	CTG	17: 36,368,788 (GRCm39)		probably null	Het
Htra4	T	C	8: 25,527,130 (GRCm39)	N222D	probably benign	Het
Iba57	A	G	11: 59,049,287 (GRCm39)	V294A	probably benign	Het
Kctd21	A	G	7: 96,996,782 (GRCm39)	D85G	probably damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lama5	G	A	2: 179,826,253 (GRCm39)	T2330M	probably damaging	Het
Lrguk	G	A	6: 34,106,158 (GRCm39)	E728K	probably benign	Het
Mcm6	T	C	1: 128,279,285 (GRCm39)	D167G	probably benign	Het
Mettl18	T	A	1: 163,824,045 (GRCm39)	V122E	probably damaging	Het
Mindy2	G	A	9: 70,534,063 (GRCm39)	S378L	probably damaging	Het
Mis18bp1	G	T	12: 65,187,540 (GRCm39)	F854L	probably damaging	Het
Mtdh	C	T	15: 34,114,980 (GRCm39)	R106*	probably null	Het
Nup214	T	A	2: 31,923,416 (GRCm39)	V1315E	possibly damaging	Het
Nup58	A	G	14: 60,476,004 (GRCm39)	V271A	probably benign	Het
Or1j1	A	G	2: 36,702,271 (GRCm39)	Y278H	probably damaging	Het
Or4c101	T	C	2: 88,390,176 (GRCm39)	V121A	possibly damaging	Het
Or6f2	T	C	7: 139,756,359 (GRCm39)	S109P	probably damaging	Het
Orc5	G	T	5: 22,753,003 (GRCm39)	F10L	probably benign	Het
Pcdha11	A	T	18: 37,140,051 (GRCm39)	N560I	probably damaging	Het
Pcdhb9	T	A	18: 37,535,302 (GRCm39)	F432Y	probably benign	Het
Peg10	GGATCC	GGATCCCCATCAAGATCC	6: 4,756,460 (GRCm39)		probably benign	Het
Poll	C	A	19: 45,543,563 (GRCm39)	M385I	probably benign	Het
Pomt1	A	G	2: 32,144,424 (GRCm39)	K737E	possibly damaging	Het
Prr16	C	T	18: 51,435,911 (GRCm39)	T130I	probably damaging	Het
Ptpn18	A	G	1: 34,510,873 (GRCm39)		probably null	Het
Ranbp6	A	T	19: 29,788,263 (GRCm39)	Y696*	probably null	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Scn10a	A	G	9: 119,460,571 (GRCm39)	I1101T	possibly damaging	Het
Snx10	A	G	6: 51,565,270 (GRCm39)	D129G	probably damaging	Het
Stub1	A	G	17: 26,050,845 (GRCm39)		probably null	Het
Tfr2	T	C	5: 137,569,954 (GRCm39)	V120A	probably benign	Het
Trmu	T	C	15: 85,779,186 (GRCm39)	Y278H	possibly damaging	Het
Ugt2b36	A	C	5: 87,239,947 (GRCm39)	F146C	probably damaging	Het
Vav2	T	C	2: 27,160,172 (GRCm39)	I692V	possibly damaging	Het
Wdfy3	A	G	5: 102,091,800 (GRCm39)	L513P	probably damaging	Het
Zfhx4	T	A	3: 5,467,699 (GRCm39)	V2619D	probably damaging	Het
Zfyve26	T	A	12: 79,315,844 (GRCm39)	N1211Y	possibly damaging	Het
Zp3r	A	G	1: 130,542,912 (GRCm39)	F142L	probably damaging	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
R0722:Slc22a22	UTSW	15	57,119,949 (GRCm39)	splice site	probably null
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
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

PCR Primer
(F):5'- ACCTTTTGTAGACTGGTGGTATTAC -3'
(R):5'- ATTTTACAGCAGCCATCCCTG -3'

Sequencing Primer
(F):5'- TGTAGACTGGTGGTATTACTCTTTTC -3'
(R):5'- CCCTGCTCATCACTGTAGTATAAAC -3'

Posted On

2015-10-08