Mutagenetix > Incidental Mutation

Incidental Mutation 'R4561:Slc22a22'

343109

Institutional Source

Beutler Lab

Gene Symbol

Slc22a22

Ensembl Gene

ENSMUSG00000022366

Gene Name

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

Synonyms

BC026439, OAT-PG

MMRRC Submission

041786-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R4561 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57243767-57477625 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57263385 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 77 (Q77L)

Ref Sequence

ENSEMBL: ENSMUSP00000123667 (fasta)

Gene Model

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

AlphaFold

Q8R0S9

Predicted Effect

probably benign
Transcript: ENSMUST00000022995
AA Change: Q96L

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000022995
Gene: ENSMUSG00000022366
AA Change: Q96L

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 benign
Transcript: ENSMUST00000110196
AA Change: Q96L

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105825
Gene: ENSMUSG00000022366
AA Change: Q96L

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: Q77L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123667
Gene: ENSMUSG00000022366
AA Change: Q77L

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	T	C	10: 70,002,018	S1601P	probably damaging	Het
Arnt	A	G	3: 95,452,613	N56D	probably damaging	Het
Atad5	A	G	11: 80,095,889	T601A	probably benign	Het
Calr4	A	G	4: 109,246,182	N163S	probably damaging	Het
Cenpc1	C	A	5: 86,047,632	A93S	probably damaging	Het
Cep135	C	T	5: 76,638,193	H1048Y	possibly damaging	Het
Ctnna2	A	G	6: 77,636,713		probably null	Het
Ddx60	T	C	8: 61,942,461	L144P	probably damaging	Het
Dera	A	T	6: 137,780,738	T96S	possibly damaging	Het
Dock9	T	A	14: 121,559,007	M1853L	probably benign	Het
Erbb4	G	A	1: 68,343,921	R306*	probably null	Het
Glyat	G	T	19: 12,651,280	L146F	possibly damaging	Het
Grk4	C	A	5: 34,694,813	Q134K	probably benign	Het
Hkdc1	T	C	10: 62,409,839	Q181R	probably benign	Het
Huwe1	A	T	X: 151,863,959	I682F	probably damaging	Het
Ipo4	C	T	14: 55,630,089		probably benign	Het
Ivl	CCTGCTGCTGCT	CCTGCTGCTGCTGCT	3: 92,571,955		probably benign	Het
Kcnd2	A	G	6: 21,216,396	Q33R	probably benign	Het
Kdm7a	C	T	6: 39,152,823	R473Q	probably damaging	Het
Klhl30	A	T	1: 91,361,031	H504L	probably damaging	Het
Map4	A	G	9: 110,052,371	Y101C	possibly damaging	Het
Mfn2	C	A	4: 147,877,035	R707L	probably damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myof	T	C	19: 37,922,990	N1511D	probably benign	Het
Neb	A	T	2: 52,286,155	Y1431N	probably damaging	Het
Nlrc5	A	G	8: 94,477,146	T625A	probably damaging	Het
Olfr996	G	T	2: 85,579,620	C127F	probably damaging	Het
Pax2	A	G	19: 44,835,963	Y374C	unknown	Het
Pde8a	T	A	7: 81,308,820	Y315*	probably null	Het
Pkhd1	A	T	1: 20,534,719	L1124Q	possibly damaging	Het
Ppp1r3a	A	G	6: 14,754,682	F189L	probably damaging	Het
Prex2	G	A	1: 11,184,545		probably null	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Slc24a2	A	T	4: 87,227,397	V140D	probably damaging	Het
Slc35g2	C	A	9: 100,553,234	R128L	probably damaging	Het
Slco1b2	A	G	6: 141,671,167	T409A	probably benign	Het
Spag7	T	C	11: 70,664,990	I80M	probably damaging	Het
Srgap3	A	G	6: 112,781,054	M164T	probably damaging	Het
Sspo	A	T	6: 48,475,534		probably null	Het
Tcte2	T	C	17: 13,722,602		probably benign	Het
Tmem117	A	T	15: 95,094,796	M446L	probably benign	Het
Tmtc4	T	C	14: 122,963,298	T194A	probably benign	Het
Ttc21b	T	C	2: 66,186,218	Y1269C	probably damaging	Het
Zfp236	A	T	18: 82,620,406	I1363N	probably damaging	Het
Zfp760	T	A	17: 21,723,667	S608T	probably benign	Het
Zfp947	G	T	17: 22,146,143	Y183*	probably null	Het

Other mutations in Slc22a22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01137:Slc22a22	APN	15	57254278	missense	probably damaging	1.00
IGL01140:Slc22a22	APN	15	57263338	missense	probably damaging	1.00
IGL02350:Slc22a22	APN	15	57247448	missense	probably benign	0.16
IGL02357:Slc22a22	APN	15	57247448	missense	probably benign	0.16
IGL03115:Slc22a22	APN	15	57263274	missense	probably damaging	1.00
IGL03244:Slc22a22	APN	15	57249552	splice site	probably benign
IGL03384:Slc22a22	APN	15	57254216	missense	probably benign	0.01
R0371:Slc22a22	UTSW	15	57249735	missense	possibly damaging	0.82
R0501:Slc22a22	UTSW	15	57249650	missense	probably benign	0.16
R0684:Slc22a22	UTSW	15	57263362	missense	probably benign	0.04
R0722:Slc22a22	UTSW	15	57256553	splice site	probably null
R1240:Slc22a22	UTSW	15	57250872	missense	probably benign	0.02
R1472:Slc22a22	UTSW	15	57247520	missense	probably benign	0.03
R2040:Slc22a22	UTSW	15	57247540	nonsense	probably null
R2125:Slc22a22	UTSW	15	57254240	missense	probably damaging	1.00
R3707:Slc22a22	UTSW	15	57250973	missense	probably damaging	1.00
R3921:Slc22a22	UTSW	15	57256544	missense	probably benign	0.07
R4184:Slc22a22	UTSW	15	57256566	nonsense	probably null
R4626:Slc22a22	UTSW	15	57263338	missense	probably damaging	1.00
R4887:Slc22a22	UTSW	15	57249752	missense	probably benign	0.20
R5181:Slc22a22	UTSW	15	57255123	missense	probably benign	0.08
R5486:Slc22a22	UTSW	15	57263451	missense	probably damaging	0.97
R5621:Slc22a22	UTSW	15	57259151	missense	probably benign	0.02
R5812:Slc22a22	UTSW	15	57256473	critical splice donor site	probably null
R5958:Slc22a22	UTSW	15	57263536	missense	possibly damaging	0.95
R6517:Slc22a22	UTSW	15	57250969	missense	probably benign	0.28
R6555:Slc22a22	UTSW	15	57259131	missense	probably benign	0.08
R6724:Slc22a22	UTSW	15	57247532	missense	probably damaging	1.00
R6744:Slc22a22	UTSW	15	57254272	missense	possibly damaging	0.46
R7078:Slc22a22	UTSW	15	57263480	missense	probably benign	0.01
R7085:Slc22a22	UTSW	15	57249649	missense	probably benign	0.00
R7263:Slc22a22	UTSW	15	57249711	missense	probably benign
R7335:Slc22a22	UTSW	15	57263375	missense	probably benign	0.19
R7859:Slc22a22	UTSW	15	57250952	missense	probably benign	0.02
R7871:Slc22a22	UTSW	15	57263355	missense	possibly damaging	0.86
R8297:Slc22a22	UTSW	15	57259110	missense	probably damaging	1.00
R8340:Slc22a22	UTSW	15	57263690	critical splice acceptor site	probably null
R8358:Slc22a22	UTSW	15	57244847	missense	probably damaging	1.00
R8811:Slc22a22	UTSW	15	57244841	missense	probably damaging	1.00
R9461:Slc22a22	UTSW	15	57244946	missense	probably damaging	1.00
R9461:Slc22a22	UTSW	15	57263656	missense	probably damaging	0.99

Predicted Primers

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

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

Posted On

2015-09-24