Mutagenetix > Incidental Mutation

Incidental Mutation 'R4896:Slc22a26'

377699

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

042500-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R4896 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7781041-7802667 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7791054 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 213 (I213L)

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: I213L

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

SMART Domains

Protein: ENSMUSP00000064809
Gene: ENSMUSG00000053303
AA Change: I213L

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: I213L

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113607
Gene: ENSMUSG00000053303
AA Change: I213L

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

99% (101/102)

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,221,937	S1898P	probably benign	Het
4932438A13Rik	T	G	3: 36,965,937	N2108K	probably damaging	Het
Abcb4	T	C	5: 8,907,267	V132A	possibly damaging	Het
Acpp	A	T	9: 104,306,975	V292E	probably damaging	Het
Adamts10	T	C	17: 33,528,896	V102A	possibly damaging	Het
Add2	A	G	6: 86,096,746	T206A	probably benign	Het
Alg12	A	T	15: 88,816,188	L15Q	probably damaging	Het
Ankrd27	T	A	7: 35,608,375	D346E	probably damaging	Het
Armc2	A	T	10: 41,923,794	N689K	probably damaging	Het
Best3	T	A	10: 117,024,555	D573E	probably benign	Het
Ccdc80	A	T	16: 45,095,898	Q339L	probably benign	Het
Cdh9	T	C	15: 16,778,156	V19A	probably benign	Het
Cnksr1	A	T	4: 134,229,675		probably null	Het
Col7a1	T	A	9: 108,957,277	V525E	unknown	Het
Crebrf	T	C	17: 26,742,420	S172P	possibly damaging	Het
Csmd1	T	C	8: 16,009,439	I2099V	probably benign	Het
Dcaf4	T	A	12: 83,539,459	M400K	possibly damaging	Het
Dnah11	A	T	12: 117,995,200	F2983I	probably damaging	Het
Dock6	A	G	9: 21,824,437	V1005A	possibly damaging	Het
Dyrk2	C	A	10: 118,868,248	G34C	probably damaging	Het
Eif4a1	A	T	11: 69,668,597		probably benign	Het
Eno4	G	T	19: 58,964,543	D330Y	probably damaging	Het
Faf1	G	A	4: 109,842,299	C347Y	probably benign	Het
Fam169a	A	G	13: 97,097,592	Y124C	probably damaging	Het
Fam227a	G	T	15: 79,637,054	F269L	probably benign	Het
Fam60a	A	G	6: 148,933,000		probably null	Het
Fancm	C	A	12: 65,075,831	D42E	probably damaging	Het
Fat1	T	A	8: 44,951,280	I356N	possibly damaging	Het
Fer1l6	A	T	15: 58,638,020	T1444S	probably damaging	Het
Galr1	A	G	18: 82,393,940	L267P	probably damaging	Het
Gbx1	T	C	5: 24,504,839	H336R	probably damaging	Het
Gimap8	A	T	6: 48,659,347	Q682L	possibly damaging	Het
Gm2396	T	G	9: 88,931,228		noncoding transcript	Het
Gm5798	T	C	14: 41,348,657	L8S	probably damaging	Het
Hmgcll1	C	T	9: 76,056,178	S39F	possibly damaging	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Il3ra	A	T	14: 14,355,381	E289D	probably benign	Het
Isoc1	T	A	18: 58,673,278	L220Q	probably damaging	Het
Itga2	T	A	13: 114,853,766	K918*	probably null	Het
Kat6a	C	T	8: 22,938,313	T1228I	probably benign	Het
Klhl30	T	A	1: 91,359,324		probably null	Het
Krtap6-2	A	T	16: 89,419,918	C54S	unknown	Het
Lmf2	G	A	15: 89,351,800	P634S	probably benign	Het
Map3k4	A	G	17: 12,272,019	V175A	possibly damaging	Het
Mcm3	A	C	1: 20,820,256		probably benign	Het
Mon1b	T	C	8: 113,639,227	S396P	probably damaging	Het
Mroh2a	T	C	1: 88,256,754	V1453A	probably benign	Het
Ncor2	A	G	5: 125,049,340		probably null	Het
Nlrc5	T	G	8: 94,521,216		probably benign	Het
Nlrp14	GT	GTT	7: 107,197,179		probably null	Het
Nwd2	T	G	5: 63,804,808	S578R	probably damaging	Het
Odf3	G	A	7: 140,848,485		probably benign	Het
Olfr1289	G	A	2: 111,483,660	V105I	possibly damaging	Het
Olfr360	A	G	2: 37,068,410	Y35C	probably damaging	Het
Otoa	C	A	7: 121,102,679	P194T	probably damaging	Het
Pde1b	A	C	15: 103,521,374	D98A	probably damaging	Het
Pi4ka	A	T	16: 17,377,169	C122S	probably damaging	Het
Pole2	C	T	12: 69,223,150	V67M	probably damaging	Het
Prickle2	A	T	6: 92,416,755	D312E	probably benign	Het
Prkd1	T	C	12: 50,389,962	D453G	probably damaging	Het
Prrc1	T	A	18: 57,374,554	V260E	probably damaging	Het
Reg3g	A	T	6: 78,467,810	Y62N	probably benign	Het
Reln	C	T	5: 21,955,238	G2111E	probably damaging	Het
Rsph6a	A	T	7: 19,057,740	E278V	possibly damaging	Het
Scpep1	T	A	11: 88,941,296	I203F	probably damaging	Het
Sec24d	T	C	3: 123,354,947	C747R	probably damaging	Het
Sec31a	A	T	5: 100,368,333	N967K	probably damaging	Het
Sell	T	C	1: 164,063,062	W5R	probably benign	Het
Siglec1	C	T	2: 131,069,869	V1697M	probably benign	Het
Slc2a13	G	A	15: 91,412,212	P300S	probably benign	Het
Slco1a4	A	G	6: 141,815,505	Y461H	possibly damaging	Het
Slco3a1	G	C	7: 74,320,556	C434W	probably null	Het
Sp3	A	T	2: 72,938,289	V666D	probably benign	Het
Spidr	A	T	16: 16,118,942	W100R	possibly damaging	Het
Stk33	T	A	7: 109,327,595	M286L	probably damaging	Het
Sult1c2	T	A	17: 53,832,135	I183F	probably benign	Het
Svep1	G	T	4: 58,087,751	T1776K	probably benign	Het
Tesk2	A	G	4: 116,802,993	H436R	probably benign	Het
Tex2	T	C	11: 106,568,404	T67A	probably damaging	Het
Timm10	T	C	2: 84,829,848	S44P	possibly damaging	Het
Tmed11	C	A	5: 108,795,182		probably null	Het
Trim12c	G	A	7: 104,340,948	R441C	probably damaging	Het
Trmt2a	A	G	16: 18,252,929	K509E	probably damaging	Het
Upk3a	A	G	15: 85,019,423	T108A	probably benign	Het
Usp29	A	G	7: 6,962,159	M334V	probably benign	Het
Vash1	A	G	12: 86,680,142	D52G	probably benign	Het
Vmn2r14	T	G	5: 109,220,380	T249P	probably benign	Het
Vmn2r43	A	T	7: 8,244,849	F772I	probably damaging	Het
Vmn2r75	G	T	7: 86,171,579	S49Y	probably benign	Het
Xdh	T	C	17: 73,910,243	T677A	probably damaging	Het
Zan	A	G	5: 137,386,456	L5102P	unknown	Het
Zfp160	T	A	17: 21,020,081	S9T	probably benign	Het
Zfp273	A	T	13: 67,825,554	H267L	probably damaging	Het
Zfp97	T	A	17: 17,144,776	I179K	probably benign	Het
Zfp975	T	C	7: 42,662,292	Y299C	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
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
R9788:Slc22a26	UTSW	19	7786433	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GAACTCATTGACAGTGTGGTCAC -3'
(R):5'- TACACCTGGGGATGAGACAAAC -3'

Sequencing Primer
(F):5'- CATTGACAGTGTGGTCACCAAGG -3'
(R):5'- TGAGACAAACTGCTGCCTG -3'

Posted On

2016-03-17