Mutagenetix > Incidental Mutation

Incidental Mutation 'R8772:Slc22a26'

664508

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 #

R8772 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7781041-7802667 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7790112 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 310 (N310D)

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: N310D

PolyPhen 2 Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000064809
Gene: ENSMUSG00000053303
AA Change: N310D

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: N309D

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113607
Gene: ENSMUSG00000053303
AA Change: N309D

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

0.1573

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

100% (83/83)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	C	17: 45,516,977	V574A	probably benign	Het
AC157566.4	T	C	15: 76,534,249	Y20C	probably benign	Het
Acacb	A	T	5: 114,184,118	D231V	possibly damaging	Het
Acp7	C	T	7: 28,616,484	V226M	probably damaging	Het
Actr1a	A	G	19: 46,382,292		probably null	Het
Adamts16	T	C	13: 70,836,334	Y70C	probably damaging	Het
Adcy5	G	A	16: 35,299,588	A1156T	probably damaging	Het
Ago1	A	T	4: 126,460,523		probably benign	Het
Akap9	G	A	5: 4,046,255	E2377K	probably damaging	Het
Asic2	A	G	11: 81,967,887	S100P	probably benign	Het
Atp1a1	A	C	3: 101,579,808	V895G	probably benign	Het
B3gnt7	A	G	1: 86,305,572	E180G	possibly damaging	Het
Cacna1c	A	T	6: 118,602,322	F1805I		Het
Cacna1g	A	G	11: 94,465,887	I141T	probably benign	Het
Ccdc162	A	G	10: 41,630,037	L919P	probably damaging	Het
Cd47	A	G	16: 49,884,212	I116V		Het
Cdca2	A	T	14: 67,698,080	D395E	probably damaging	Het
Celsr2	A	T	3: 108,397,073	I2285N	possibly damaging	Het
Chil5	T	C	3: 106,018,220	D157G	probably damaging	Het
Ciita	A	T	16: 10,480,162	I7F	probably damaging	Het
Dok7	G	T	5: 35,077,249	G215C	probably damaging	Het
Eif2s2	T	C	2: 154,887,739	I88V	probably null	Het
Fasn	A	T	11: 120,820,536	D217E	probably benign	Het
Fgd5	T	A	6: 92,050,419	I1030N	probably damaging	Het
Fpr-rs6	T	A	17: 20,182,233	N289Y	probably damaging	Het
Gm10392	C	T	11: 77,518,454	V49I	possibly damaging	Het
Gtf3c2	A	T	5: 31,174,414	M20K	probably benign	Het
Hoga1	A	G	19: 42,045,945	M10V	probably benign	Het
Homer1	T	A	13: 93,391,731	V258E	probably damaging	Het
Ifitm2	A	G	7: 140,955,890	L9S	probably benign	Het
Iqgap3	G	A	3: 88,089,837	A176T	probably benign	Het
Itga8	C	G	2: 12,182,684	G728A	probably damaging	Het
Lyst	C	T	13: 13,637,492	Q830*	probably null	Het
Macc1	T	C	12: 119,447,485	W663R	probably damaging	Het
Mipol1	A	T	12: 57,325,632	H159L	probably benign	Het
Mocs1	T	A	17: 49,450,374		probably null	Het
Ncoa1	T	C	12: 4,322,940	T154A	possibly damaging	Het
Noxred1	A	C	12: 87,227,093	L58R	probably benign	Het
Olfr205	A	G	16: 59,328,688	S274P	probably damaging	Het
Olfr78	G	A	7: 102,743,003		probably benign	Het
Olfr895	G	A	9: 38,268,935	V133I	probably benign	Het
Opcml	T	C	9: 27,791,411	V9A	probably benign	Het
Otog	A	T	7: 46,284,928	R1303S	probably damaging	Het
Parp11	T	A	6: 127,470,763	M20K	possibly damaging	Het
Parp11	T	A	6: 127,491,704	I322N	probably damaging	Het
Pde1b	T	C	15: 103,525,121		probably benign	Het
Pglyrp4	A	T	3: 90,740,400	T356S	possibly damaging	Het
Pitrm1	A	G	13: 6,578,560	D963G	probably damaging	Het
Plod3	T	C	5: 136,988,919	V183A	probably damaging	Het
Plxnb2	C	T	15: 89,162,746	V791M	probably damaging	Het
Poc1b	T	A	10: 99,156,357		probably benign	Het
Ppp1r7	A	G	1: 93,354,428	T234A	probably benign	Het
Pxdn	C	T	12: 30,015,464	T1441I	probably damaging	Het
Rap1gap2	T	C	11: 74,405,725	K479E	probably damaging	Het
Rars2	A	G	4: 34,623,488	D63G	probably benign	Het
Rptor	A	C	11: 119,725,032	D124A	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Het
Ryr1	C	A	7: 29,116,132	R118L	probably benign	Het
Sap130	G	C	18: 31,680,464	D525H	probably damaging	Het
Slc46a1	T	G	11: 78,465,951	N58K	probably benign	Het
Slc4a10	T	A	2: 62,303,940	I1000N	probably damaging	Het
Son	C	T	16: 91,657,938	T1191I	possibly damaging	Het
Sppl2a	T	C	2: 126,926,311	K146E	probably benign	Het
Srgap3	T	A	6: 112,766,945	K444I	probably damaging	Het
Sun1	T	C	5: 139,223,692	V59A	probably benign	Het
Sva	T	A	6: 42,038,509	Y37N	probably benign	Het
Taar8c	T	A	10: 24,101,807	M36L	probably benign	Het
Taf4b	C	T	18: 14,835,852	T682I	probably damaging	Het
Tbx5	T	A	5: 119,838,725	H59Q	probably benign	Het
Tdrd1	A	T	19: 56,855,328	Y746F	probably damaging	Het
Tmem132e	A	G	11: 82,434,311	S46G	probably damaging	Het
Tnfaip6	T	A	2: 52,051,065	V206E	possibly damaging	Het
Tpbpb	T	A	13: 60,901,379		probably benign	Het
Ttn	T	A	2: 76,937,681	K3025*	probably null	Het
Tulp4	T	A	17: 6,176,893	I106N	probably damaging	Het
Ubp1	T	A	9: 113,972,829	F454Y	probably benign	Het
Ugt2b37	A	T	5: 87,254,486	N95K	probably benign	Het
Vps13d	T	A	4: 145,075,032	R3539W		Het
Vsnl1	T	C	12: 11,332,179	H67R	probably damaging	Het
Zbbx	A	G	3: 75,155,385	Y22H	probably benign	Het
Zeb1	A	G	18: 5,770,382		probably null	Het
Zfp142	A	T	1: 74,571,666	L990Q	possibly damaging	Het
Zmiz1	G	A	14: 25,645,694	G265D	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
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'- CACGAAAGATATCATCAAATCAGGG -3'
(R):5'- GTTCCCAGTCTGCATTCCAG -3'

Sequencing Primer
(F):5'- CAGGGTTTTTACAAAGTCCTCTTG -3'
(R):5'- CCAGAGATTCATATACATTGCATTGC -3'

Posted On

2021-03-08