Mutagenetix > Incidental Mutation

Incidental Mutation 'R7634:Slc22a26'

628256

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: 0.060) question?

Stock #

R7634 (G1)

Quality Score

52.0072

Status

Validated

Chromosome

Chromosomal Location

7781041-7802667 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 7802587 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000064809 (fasta)

Gene Model

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

AlphaFold

Q91WJ2

Predicted Effect

probably null
Transcript: ENSMUST00000065634

SMART Domains

Protein: ENSMUSP00000064809
Gene: ENSMUSG00000053303

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

SMART Domains

Protein: ENSMUSP00000113607
Gene: ENSMUSG00000053303

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

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

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	A	T	8: 60,516,068	M116L	probably benign	Het
Adam25	A	G	8: 40,754,846	D383G	probably benign	Het
Adam26b	T	A	8: 43,520,997	M323L	probably benign	Het
Adgrf3	T	C	5: 30,202,247	H227R	probably benign	Het
Antxr1	G	A	6: 87,137,291	T498I	probably benign	Het
Arg1	T	A	10: 24,915,729	T285S	possibly damaging	Het
Arhgdig	T	C	17: 26,199,391	D206G	probably damaging	Het
Asb10	C	A	5: 24,540,877	C17F	possibly damaging	Het
Atg2b	T	C	12: 105,652,120	D891G	probably damaging	Het
Cacna1h	A	T	17: 25,392,109	S572T	possibly damaging	Het
Cenpj	T	C	14: 56,542,800	T985A	probably benign	Het
Cfap65	G	T	1: 74,902,434	N1780K	probably damaging	Het
Cyp26c1	T	C	19: 37,692,999	Y417H	probably damaging	Het
Dnajb13	G	T	7: 100,503,186	Q308K	probably benign	Het
Fam107b	T	C	2: 3,770,740	S3P	possibly damaging	Het
Gm13762	G	T	2: 88,973,657	P78Q	probably damaging	Het
Gm14025	T	A	2: 129,038,272	D578V		Het
Gm3127	A	G	14: 4,166,014	N64S	probably damaging	Het
Gm4847	A	C	1: 166,632,680	N412K	probably benign	Het
Gtf3c3	A	T	1: 54,419,641		probably null	Het
Guf1	T	C	5: 69,564,544	S349P	probably damaging	Het
Hvcn1	A	G	5: 122,233,523	Y42C	probably damaging	Het
Insm1	A	G	2: 146,223,107	Y281C	probably damaging	Het
Lrrc71	A	G	3: 87,742,974	I264T	probably damaging	Het
Lrriq1	T	C	10: 103,200,601	N897S	probably damaging	Het
Mtmr6	T	A	14: 60,296,147	F375I	probably damaging	Het
Mtor	G	C	4: 148,452,350	S27T	possibly damaging	Het
Mylk4	T	A	13: 32,708,908	K387N	possibly damaging	Het
Nadk2	T	G	15: 9,092,846	D247E	probably benign	Het
Nfya	T	C	17: 48,392,417	T213A	probably damaging	Het
Nlrp1a	A	G	11: 71,099,528	V1067A	probably benign	Het
Nrbp2	C	T	15: 76,087,408	R206Q	possibly damaging	Het
Oas2	A	G	5: 120,733,228	V722A	probably benign	Het
Pcdhb2	G	T	18: 37,294,947		probably benign	Het
Pdpr	T	A	8: 111,125,685	H561Q	probably damaging	Het
Plcz1	A	G	6: 140,016,127	F233L	probably damaging	Het
Ppp1r3d	A	G	2: 178,413,372	I279T	probably damaging	Het
Psg17	A	G	7: 18,814,491	Y452H	probably damaging	Het
Reg4	T	C	3: 98,233,112		probably null	Het
Rint1	A	G	5: 23,805,479	T229A	probably benign	Het
Robo1	T	G	16: 73,042,978		probably null	Het
Slc22a7	C	T	17: 46,438,230	A54T	probably benign	Het
Slc52a3	C	A	2: 152,004,614	T165N	possibly damaging	Het
Slc7a11	C	T	3: 50,424,037		probably null	Het
Smap2	T	C	4: 121,016,799	N18S	probably benign	Het
Spag6l	T	C	16: 16,777,414	E369G	probably damaging	Het
Tarsl2	T	A	7: 65,676,012	Y445N	probably damaging	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Tmprss7	C	T	16: 45,663,274	G579D	probably benign	Het
Tpi1	T	A	6: 124,812,854	K109*	probably null	Het
Ttc25	G	A	11: 100,561,905		probably null	Het
Ttn	T	C	2: 76,798,512	E14466G	possibly damaging	Het
Usp40	A	T	1: 87,962,430	C903*	probably null	Het
Vmn2r104	T	A	17: 20,041,709	L386F	possibly damaging	Het
Vmn2r54	G	A	7: 12,615,703	P651S	probably damaging	Het
Wnk4	C	A	11: 101,262,895	T261K	probably damaging	Het
Wnt2b	T	C	3: 104,947,116	Y342C	probably damaging	Het
Zbtb8b	A	G	4: 129,432,962	Y137H	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
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
R9788:Slc22a26	UTSW	19	7786433	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CATCTGAAGGATCTGGAATCTCC -3'
(R):5'- TTTCCAGAAATGACCCAGGG -3'

Sequencing Primer
(F):5'- CTGAAGGATCTGGAATCTCCCATGG -3'
(R):5'- GGGGTGGTTCACAAAGGTTCTC -3'

Posted On

2020-02-18