Mutagenetix > Incidental Mutation

Incidental Mutation 'R6494:Slc22a26'

522985

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

044626-MU

Accession Numbers

Essential gene?

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

Stock #

R6494 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7781041-7802667 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7802286 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 55 (D55V)

Ref Sequence

ENSEMBL: ENSMUSP00000113607 (fasta)

Gene Model

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

AlphaFold

Q91WJ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000065634
AA Change: D55V

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

SMART Domains

Protein: ENSMUSP00000064809
Gene: ENSMUSG00000053303
AA Change: D55V

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 damaging
Transcript: ENSMUST00000120522
AA Change: D55V

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

SMART Domains

Protein: ENSMUSP00000113607
Gene: ENSMUSG00000053303
AA Change: D55V

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: 99.7%
10x: 97.8%
20x: 92.4%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	G	4: 42,971,924	N419S	possibly damaging	Het
Akt2	T	C	7: 27,616,349	L52P	possibly damaging	Het
Chd1l	G	A	3: 97,587,167	A399V	probably damaging	Het
Chic2	T	C	5: 75,044,282	E6G	probably benign	Het
Clca4a	T	A	3: 144,957,298	T597S	probably benign	Het
Col5a2	C	A	1: 45,378,327	D1363Y	probably damaging	Het
Csmd1	C	T	8: 16,211,695		probably null	Het
Dnah7b	A	T	1: 46,099,431	Y211F	probably damaging	Het
Efcab3	A	T	11: 105,100,019	Y5460F	possibly damaging	Het
Efcab6	T	A	15: 84,044,322		probably null	Het
Eno4	T	A	19: 58,962,794	Y237N	probably damaging	Het
Fer1l4	T	A	2: 156,045,470	D602V	probably benign	Het
Fgfr2	T	C	7: 130,198,550	N337S	probably damaging	Het
Fras1	C	T	5: 96,759,564	R3203C	possibly damaging	Het
Gbp2	T	A	3: 142,632,008	V295E	probably damaging	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Hyal4	A	G	6: 24,765,746	I366M	possibly damaging	Het
Itsn2	C	T	12: 4,634,792	R448*	probably null	Het
Klhl35	G	T	7: 99,472,899	W69L	probably damaging	Het
Kpnb1	T	C	11: 97,181,648	I154V	probably benign	Het
Lax1	T	A	1: 133,680,448	Y185F	probably damaging	Het
Mmp12	C	T	9: 7,353,479	P208L	probably damaging	Het
Ndufb8	C	T	19: 44,555,305	V33M	probably null	Het
Nptn	T	G	9: 58,623,752	C169G	probably damaging	Het
Nuggc	A	T	14: 65,648,222	E766V	probably damaging	Het
Olfr1117-ps1	A	T	2: 87,309,176	N149I	possibly damaging	Het
Olfr1150-ps1	A	T	2: 87,357,632	K63*	probably null	Het
Pcdhga6	T	A	18: 37,708,541	I438N	probably damaging	Het
Pkn2	T	C	3: 142,803,668	N721S	possibly damaging	Het
Pole	T	C	5: 110,324,722	W1590R	possibly damaging	Het
Prph2	A	G	17: 46,911,081	T129A	probably benign	Het
Ptpro	A	T	6: 137,382,642	K403N	probably benign	Het
Rbck1	T	C	2: 152,330,966	D54G	possibly damaging	Het
Serpinb7	T	A	1: 107,435,346	L80*	probably null	Het
Setdb2	T	A	14: 59,402,414	Y676F	probably benign	Het
Skint1	G	T	4: 112,010,712	C12F	probably benign	Het
Slc9a8	G	A	2: 167,424,291	V63I	probably damaging	Het
Sox2	T	A	3: 34,651,097	S228T	probably benign	Het
Spg11	A	G	2: 122,113,225	S149P	probably damaging	Het
Tbc1d19	T	A	5: 53,829,383	S45T	probably benign	Het
Tsacc	T	C	3: 88,295,396	E11G	probably benign	Het
Ttc7b	C	T	12: 100,495,407	A104T	possibly damaging	Het
Uox	C	T	3: 146,624,577	R163*	probably null	Het
Zfp108	T	A	7: 24,261,357	F458I	probably damaging	Het
Zfp616	A	T	11: 74,085,192	K762N	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
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
R9788:Slc22a26	UTSW	19	7786433	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AGAAAAGTCCTCTGGTCATACAC -3'
(R):5'- GGCAGTCATTCAGCCTCAATG -3'

Sequencing Primer
(F):5'- AGCCATCCATACAGGGCTCTG -3'
(R):5'- AATGGCCTTTCAGGATCTTCTG -3'

Posted On

2018-06-06