Mutagenetix > Incidental Mutation

Incidental Mutation 'R9659:Slc22a26'

727481

Institutional Source

Beutler Lab

Gene Symbol

Slc22a26

Ensembl Gene

ENSMUSG00000053303

Gene Name

solute carrier family 22 (organic cation transporter), member 26

Synonyms

BC014805

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R9659 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7781041-7802667 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 7786433 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 412 (P412S)

Ref Sequence

ENSEMBL: ENSMUSP00000064809 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065634] [ENSMUST00000120522]

AlphaFold

Q91WJ2

Predicted Effect

probably benign
Transcript: ENSMUST00000065634
AA Change: P412S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000064809
Gene: ENSMUSG00000053303
AA Change: P412S

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
low complexity region	53	64	N/A	INTRINSIC
Pfam:Sugar_tr	96	528	1.1e-23	PFAM
Pfam:MFS_1	124	370	7.8e-17	PFAM
Pfam:MFS_1	350	547	2.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120522
AA Change: P411S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000113607
Gene: ENSMUSG00000053303
AA Change: P411S

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
low complexity region	53	64	N/A	INTRINSIC
Pfam:Sugar_tr	94	527	4.9e-23	PFAM
Pfam:MFS_1	124	358	1.2e-15	PFAM
Pfam:MFS_1	349	547	2.4e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	G	A	3: 108,469,981	T387I	possibly damaging	Het
A330070K13Rik	T	C	5: 130,379,035	I112V	unknown	Het
Adcy7	A	G	8: 88,319,105	T572A	probably benign	Het
AF067061	T	A	13: 120,264,218	D139E	probably damaging	Het
Atad5	G	T	11: 80,089,716		probably benign	Het
C2cd2	A	G	16: 97,922,273	S15P	possibly damaging	Het
Cabp1	T	C	5: 115,173,128	D289G	possibly damaging	Het
Ccdc14	A	G	16: 34,721,543	I545V	probably damaging	Het
Cep295	C	A	9: 15,322,550	A2317S	probably benign	Het
Cerkl	T	C	2: 79,392,978	D133G	possibly damaging	Het
Cited4	T	G	4: 120,667,346	C182G	probably damaging	Het
Col6a5	T	A	9: 105,933,835	K828N	unknown	Het
Ear2	A	G	14: 44,103,248	Y121C	probably damaging	Het
Ect2l	C	T	10: 18,165,599	C369Y	possibly damaging	Het
Ep300	A	G	15: 81,621,072	Y631C	unknown	Het
Ephb4	T	G	5: 137,365,481	Y583D	probably damaging	Het
Fbn2	C	G	18: 58,209,582	R75P	probably damaging	Het
Gabra2	T	C	5: 71,034,797	D63G	probably benign	Het
Gfra1	A	G	19: 58,453,220	M93T	probably damaging	Het
Gm21886	AGAGGCCTGCAGACAGTAGGTGCTCACTAGGGCCTGCAGACAGCAGGTGCTCACTGAGGCCTG	AGAGGCCTG	18: 80,089,561		probably benign	Het
Gm3604	A	T	13: 62,371,910	H10Q	possibly damaging	Het
Gm597	G	T	1: 28,777,455	H499N	probably benign	Het
Helz2	T	C	2: 181,240,232	D256G	probably benign	Het
Herc1	A	C	9: 66,399,903	I1002L	probably benign	Het
Hpgd	C	G	8: 56,319,040	C182W	probably damaging	Het
Htr5b	A	G	1: 121,527,699	L164P	possibly damaging	Het
Kmo	T	C	1: 175,658,519	F403L	probably damaging	Het
Ly75	C	A	2: 60,338,321	D748Y	probably damaging	Het
Mcm5	C	T	8: 75,117,540	S313F	probably benign	Het
Mipep	A	G	14: 60,846,444	T595A	probably damaging	Het
Muc6	T	C	7: 141,645,833	D968G	probably damaging	Het
Myo18b	T	C	5: 112,874,516	T337A	unknown	Het
Nlrp1b	T	A	11: 71,182,306	Q237L	possibly damaging	Het
Nr1h4	A	G	10: 89,478,776		probably null	Het
Nxph1	A	G	6: 9,247,418	T130A	probably damaging	Het
Olfr122	T	G	17: 37,771,989	F112C	probably damaging	Het
Olfr365	T	A	2: 37,201,885	C215S	possibly damaging	Het
Olfr481	T	C	7: 108,081,538	V248A	probably damaging	Het
Olfr734	A	G	14: 50,320,724	F37S	probably benign	Het
Olfr935	A	G	9: 38,995,000	V145A	possibly damaging	Het
Pcsk5	A	G	19: 17,477,881	Y1062H	probably benign	Het
Plch1	T	C	3: 63,773,715	I164V	probably benign	Het
Plekhh2	T	A	17: 84,547,464	M42K	possibly damaging	Het
Polr2a	T	C	11: 69,734,828	Y1832C	unknown	Het
Prpf4	G	A	4: 62,416,059		probably null	Het
Psg16	T	C	7: 17,090,599	S12P	possibly damaging	Het
Ptpn14	T	A	1: 189,854,977	M528K	probably benign	Het
Rb1cc1	T	A	1: 6,248,449	H697Q	probably benign	Het
Reg3a	T	G	6: 78,383,591	C171G	possibly damaging	Het
Tlk2	T	C	11: 105,240,437	I203T	probably benign	Het
Tmem120b	T	G	5: 123,115,725	H279Q	probably damaging	Het
Trip4	T	C	9: 65,833,420	E535G	probably benign	Het
Ttn	C	T	2: 76,885,013	E7912K	unknown	Het
Ubr5	A	T	15: 37,984,010	L2298I		Het
Utp20	A	G	10: 88,817,309	L303P	probably damaging	Het
Vcan	A	G	13: 89,691,741	Y1895H	probably damaging	Het
Vmn2r2	T	C	3: 64,134,521	N258D	possibly damaging	Het
Wdr20rt	A	T	12: 65,226,569	S269C	probably damaging	Het
Zfand4	T	G	6: 116,305,627	Y54D	probably damaging	Het
Zfp82	C	T	7: 30,056,538	R373H	probably damaging	Het
Zmiz2	A	G	11: 6,396,814	E141G	probably benign	Het

Other mutations in Slc22a26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Slc22a26	APN	19	7782836	missense	probably damaging	0.99
IGL00338:Slc22a26	APN	19	7782975	missense	probably benign	0.25
IGL00736:Slc22a26	APN	19	7790162	missense	possibly damaging	0.50
IGL01085:Slc22a26	APN	19	7790099	missense	probably benign	0.02
IGL01581:Slc22a26	APN	19	7802184	missense	probably benign	0.15
IGL02502:Slc22a26	APN	19	7790760	critical splice donor site	probably null
IGL02658:Slc22a26	APN	19	7788248	missense	probably benign	0.25
IGL02936:Slc22a26	APN	19	7791105	missense	probably damaging	0.99
IGL03162:Slc22a26	APN	19	7802101	missense	probably benign	0.00
R0034:Slc22a26	UTSW	19	7802253	missense	probably benign	0.03
R0633:Slc22a26	UTSW	19	7788210	critical splice donor site	probably null
R0676:Slc22a26	UTSW	19	7796144	splice site	probably benign
R2156:Slc22a26	UTSW	19	7802115	missense	probably damaging	1.00
R4043:Slc22a26	UTSW	19	7788329	critical splice acceptor site	probably null
R4781:Slc22a26	UTSW	19	7790135	missense	probably benign	0.34
R4896:Slc22a26	UTSW	19	7791054	missense	probably benign	0.14
R4999:Slc22a26	UTSW	19	7802181	missense	probably damaging	1.00
R5125:Slc22a26	UTSW	19	7790175	missense	possibly damaging	0.62
R5178:Slc22a26	UTSW	19	7790175	missense	possibly damaging	0.62
R6161:Slc22a26	UTSW	19	7786447	missense	possibly damaging	0.50
R6494:Slc22a26	UTSW	19	7802286	missense	probably damaging	1.00
R6512:Slc22a26	UTSW	19	7802500	start gained	probably benign
R6724:Slc22a26	UTSW	19	7802361	missense	probably benign	0.14
R7323:Slc22a26	UTSW	19	7790894	missense	probably damaging	0.97
R7375:Slc22a26	UTSW	19	7783144	splice site	probably null
R7558:Slc22a26	UTSW	19	7785286	missense	possibly damaging	0.94
R7634:Slc22a26	UTSW	19	7802587	splice site	probably null
R8772:Slc22a26	UTSW	19	7790112	missense	probably benign	0.27
R8905:Slc22a26	UTSW	19	7782966	missense	probably damaging	0.97
R8937:Slc22a26	UTSW	19	7791025	splice site	probably benign
R9059:Slc22a26	UTSW	19	7785194	missense	probably benign	0.01
R9788:Slc22a26	UTSW	19	7786433	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ACCAAACTTACTAGCTTTTGGC -3'
(R):5'- ATATGATGTGAGTCACCTCTTTGCTTC -3'

Sequencing Primer
(F):5'- CAACATGTGAGTGGAAGACTGTTTTC -3'
(R):5'- GTGAGTCACCTCTTTGCTTCTTACAG -3'

Posted On

2022-10-06