Mutagenetix > Incidental Mutation

Incidental Mutation 'R9788:Slc22a26'

734480

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 #

R9788 (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: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	G	A	3: 108,469,981	T387I	possibly damaging	Het
Abca5	A	T	11: 110,301,427	M753K	probably damaging	Het
Adcy7	A	G	8: 88,319,105	T572A	probably benign	Het
Bmp8b	A	G	4: 123,105,576	M76V	probably damaging	Het
C2cd2	A	G	16: 97,922,273	S15P	possibly damaging	Het
Cfh	T	C	1: 140,108,761	I702V	probably benign	Het
Clip2	C	T	5: 134,504,762	R487Q	probably benign	Het
Cntln	G	A	4: 85,049,856	V771M	probably damaging	Het
Ear2	A	G	14: 44,103,248	Y121C	probably damaging	Het
Ect2l	C	T	10: 18,165,599	C369Y	possibly damaging	Het
Ephb4	T	G	5: 137,365,481	Y583D	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
Gm3604	A	T	13: 62,371,910	H10Q	possibly damaging	Het
Gtf2b	AATCATC	AATC	3: 142,771,417		probably benign	Het
Herc1	A	C	9: 66,399,903	I1002L	probably benign	Het
Hmcn1	T	C	1: 150,652,582	I3272V	probably benign	Het
Izumo3	A	G	4: 92,146,800	I60T	probably benign	Het
Jakmip2	T	A	18: 43,571,862	N358I	probably damaging	Het
Klra9	T	A	6: 130,182,422	K209N	possibly damaging	Het
Ldah	A	T	12: 8,283,946	Y279F	possibly damaging	Het
Lrrcc1	T	A	3: 14,537,226	H126Q	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
Mms22l	A	G	4: 24,586,204	T859A	probably benign	Het
Mogat1	A	G	1: 78,522,705	M39V	probably benign	Het
Muc6	T	C	7: 141,645,833	D968G	probably damaging	Het
Nab1	T	C	1: 52,490,007	K244E	possibly damaging	Het
Nr1h4	A	G	10: 89,478,776		probably null	Het
Nxph1	A	G	6: 9,247,418	T130A	probably damaging	Het
Obscn	A	G	11: 59,078,852	V2426A	possibly damaging	Het
Olfr1406	C	T	1: 173,183,891	R181H	probably benign	Het
Olfr323	T	A	11: 58,625,866	Y60F	probably benign	Het
Olfr391-ps	T	C	11: 73,798,942	T272A	probably benign	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
Osbpl3	A	G	6: 50,347,364		probably null	Het
Otop3	T	A	11: 115,344,261	C259S	unknown	Het
Pcsk5	A	G	19: 17,477,881	Y1062H	probably benign	Het
Phf21a	T	C	2: 92,351,633		probably null	Het
Plch1	T	C	3: 63,773,715	I164V	probably benign	Het
Plekhh2	T	A	17: 84,547,464	M42K	possibly damaging	Het
Plekhm3	T	C	1: 64,922,263	D278G	possibly damaging	Het
Plod3	A	G	5: 136,991,057	Y447C	probably damaging	Het
Psg16	T	C	7: 17,090,599	S12P	possibly damaging	Het
Ptprq	A	T	10: 107,565,890	C1914S	probably benign	Het
Rai1	A	G	11: 60,187,254	T715A	possibly damaging	Het
Rsad2	G	A	12: 26,450,578	H237Y	probably benign	Het
Sarm1	A	G	11: 78,488,037	L394P	probably damaging	Het
Scube1	A	G	15: 83,651,700	S258P	possibly damaging	Het
Slc14a1	C	A	18: 78,109,592	A367S	probably damaging	Het
Son	TATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGTTCCATGGACTCCCAGATGTTAGCA	TATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGTTCCATGGACTCCCAGATGTTAGCA	16: 91,656,811		probably benign	Het
Synrg	A	T	11: 83,986,955	H342L	probably benign	Het
Tenm3	T	C	8: 48,335,561	Y478C	probably benign	Het
Tlr9	C	T	9: 106,223,807	P99L	probably damaging	Het
Trip4	T	C	9: 65,833,420	E535G	probably benign	Het
Utp20	A	G	10: 88,817,309	L303P	probably damaging	Het
Vmn2r2	T	C	3: 64,134,521	N258D	possibly damaging	Het
Zfp616	G	A	11: 74,084,450	G515D	probably damaging	Het
Zfp786	A	G	6: 47,820,882	L374P	probably benign	Het
Zfp82	C	T	7: 30,056,538	R373H	probably damaging	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
R9659:Slc22a26	UTSW	19	7786433	missense	probably benign	0.02

Predicted Primers

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

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

Posted On

2022-11-14