Mutagenetix > Incidental Mutation

Incidental Mutation 'R1803:Mfsd10'

203275

Institutional Source

Beutler Lab

Gene Symbol

Mfsd10

Ensembl Gene

ENSMUSG00000001082

Gene Name

major facilitator superfamily domain containing 10

Synonyms

0610009O03Rik, Tetran

MMRRC Submission

039833-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1803 (G1)

Quality Score

150

Status

Not validated

Chromosome

Chromosomal Location

34790988-34794558 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34794094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 6 (D6E)

Ref Sequence

ENSEMBL: ENSMUSP00000120814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001108] [ENSMUST00000001109] [ENSMUST00000041364] [ENSMUST00000114329] [ENSMUST00000114331] [ENSMUST00000114335] [ENSMUST00000114338] [ENSMUST00000124668] [ENSMUST00000137150] [ENSMUST00000126257] [ENSMUST00000149657] [ENSMUST00000134156] [ENSMUST00000137506] [ENSMUST00000114340] [ENSMUST00000155577] [ENSMUST00000201147] [ENSMUST00000202378]

AlphaFold

Q9D2V8

Predicted Effect

probably benign
Transcript: ENSMUST00000001108

SMART Domains

Protein: ENSMUSP00000001108
Gene: ENSMUSG00000029106

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Aldolase_II	147	329	5.49e-58	SMART
coiled coil region	599	631	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000001109
AA Change: D6E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000001109
Gene: ENSMUSG00000001082
AA Change: D6E

Domain	Start	End	E-Value	Type
Pfam:MFS_1	29	413	6.9e-41	PFAM
Pfam:Sugar_tr	62	235	7.9e-9	PFAM
transmembrane domain	422	444	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000041364

SMART Domains

Protein: ENSMUSP00000038382
Gene: ENSMUSG00000036693

Domain	Start	End	E-Value	Type
Pfam:Nop14	21	849	2.2e-273	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114329
AA Change: D6E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109968
Gene: ENSMUSG00000001082
AA Change: D6E

Domain	Start	End	E-Value	Type
Pfam:MFS_1	29	413	6.8e-41	PFAM
Pfam:Sugar_tr	71	228	2.3e-9	PFAM
transmembrane domain	422	444	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114331
AA Change: D6E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109970
Gene: ENSMUSG00000001082
AA Change: D6E

Domain	Start	End	E-Value	Type
Pfam:MFS_1	29	413	6.8e-41	PFAM
Pfam:Sugar_tr	71	228	2.3e-9	PFAM
transmembrane domain	422	444	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114335

SMART Domains

Protein: ENSMUSP00000109974
Gene: ENSMUSG00000029106

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Aldolase_II	147	329	5.49e-58	SMART
coiled coil region	597	629	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114338

SMART Domains

Protein: ENSMUSP00000109977
Gene: ENSMUSG00000029106

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Aldolase_II	147	329	5.49e-58	SMART
coiled coil region	568	600	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000124668
AA Change: D6E

SMART Domains

Protein: ENSMUSP00000119140
Gene: ENSMUSG00000001082
AA Change: D6E

Domain	Start	End	E-Value	Type
transmembrane domain	25	47	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137150
AA Change: D6E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120814
Gene: ENSMUSG00000001082
AA Change: D6E

Domain	Start	End	E-Value	Type
transmembrane domain	25	47	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126257
AA Change: D6E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000144630
Gene: ENSMUSG00000001082
AA Change: D6E

Domain	Start	End	E-Value	Type
Pfam:MFS_1	29	139	5.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149657
AA Change: D6E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118786
Gene: ENSMUSG00000001082
AA Change: D6E

Domain	Start	End	E-Value	Type
Pfam:MFS_1	29	261	1.3e-26	PFAM
Pfam:Sugar_tr	71	228	9.3e-10	PFAM
Pfam:TRI12	76	232	3.4e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138212

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136010

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137744

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151247

Predicted Effect

probably benign
Transcript: ENSMUST00000134156

SMART Domains

Protein: ENSMUSP00000143812
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137506

SMART Domains

Protein: ENSMUSP00000144121
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
transmembrane domain	31	50	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114340

SMART Domains

Protein: ENSMUSP00000109979
Gene: ENSMUSG00000029106

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Aldolase_II	147	329	5.49e-58	SMART
coiled coil region	568	600	N/A	INTRINSIC
low complexity region	666	685	N/A	INTRINSIC
low complexity region	698	719	N/A	INTRINSIC
low complexity region	727	733	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155577
AA Change: D6E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000115204
Gene: ENSMUSG00000001082
AA Change: D6E

Domain	Start	End	E-Value	Type
Pfam:MFS_1	29	269	1.1e-27	PFAM
Pfam:Sugar_tr	71	228	9.6e-10	PFAM
Pfam:TRI12	76	232	3.8e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200717

Predicted Effect

probably benign
Transcript: ENSMUST00000201147

SMART Domains

Protein: ENSMUSP00000144239
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
low complexity region	80	95	N/A	INTRINSIC
low complexity region	104	130	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202378

SMART Domains

Protein: ENSMUSP00000144117
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
transmembrane domain	24	43	N/A	INTRINSIC
transmembrane domain	96	118	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201897

Predicted Effect

probably benign
Transcript: ENSMUST00000202065

Predicted Effect

probably benign
Transcript: ENSMUST00000152805

SMART Domains

Protein: ENSMUSP00000121402
Gene: ENSMUSG00000029106

Domain	Start	End	E-Value	Type
coiled coil region	95	127	N/A	INTRINSIC

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein likely functions in efflux of organic anions, including the non-steroidal anti-inflammatory drugs indomethacin and diclofenac. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	A	T	17: 79,935,095 (GRCm39)		probably benign	Het
Adgrl3	C	T	5: 81,919,464 (GRCm39)	R586*	probably null	Het
Arpp21	T	C	9: 111,956,466 (GRCm39)	T471A	possibly damaging	Het
Blnk	T	C	19: 40,940,821 (GRCm39)	E194G	probably damaging	Het
Cd44	G	A	2: 102,664,597 (GRCm39)	P332S	probably damaging	Het
Cd47	T	C	16: 49,688,169 (GRCm39)	F30L	possibly damaging	Het
Cdh23	T	C	10: 60,167,060 (GRCm39)	E1861G	probably damaging	Het
Cdkal1	T	A	13: 29,701,454 (GRCm39)	M332L	probably damaging	Het
Cul9	A	G	17: 46,814,023 (GRCm39)	S2284P	probably damaging	Het
Cyp2a5	G	T	7: 26,534,971 (GRCm39)		probably null	Het
Dcp2	T	C	18: 44,528,984 (GRCm39)	I33T	probably damaging	Het
Ddx52	A	T	11: 83,836,958 (GRCm39)	I150L	probably damaging	Het
Dennd5a	T	A	7: 109,497,820 (GRCm39)	T1067S	probably benign	Het
Dnpep	A	T	1: 75,286,058 (GRCm39)	L419*	probably null	Het
Dock8	A	G	19: 25,109,599 (GRCm39)	K927R	probably benign	Het
Dpy19l4	A	T	4: 11,281,020 (GRCm39)	V475E	possibly damaging	Het
Edf1	C	T	2: 25,450,206 (GRCm39)	S41F	probably damaging	Het
Elapor2	A	G	5: 9,477,832 (GRCm39)	H410R	probably benign	Het
Emilin1	C	T	5: 31,075,082 (GRCm39)	P441L	possibly damaging	Het
Epha3	T	C	16: 63,422,651 (GRCm39)	K579E	probably benign	Het
Exoc1	A	G	5: 76,709,288 (GRCm39)	N23S	probably benign	Het
Flt3	C	A	5: 147,303,865 (GRCm39)	E358*	probably null	Het
Fzd1	A	T	5: 4,806,385 (GRCm39)	I399K	probably damaging	Het
Gdi2	T	A	13: 3,614,547 (GRCm39)	Y333*	probably null	Het
Gm10479	A	G	12: 20,483,654 (GRCm39)	H91R	probably benign	Het
Gm10842	G	A	11: 105,037,867 (GRCm39)	R50K	unknown	Het
Grin2c	A	T	11: 115,151,558 (GRCm39)		probably null	Het
Grk2	C	T	19: 4,344,911 (GRCm39)	V53M	probably damaging	Het
H2-M10.2	C	T	17: 36,596,763 (GRCm39)	M104I	probably benign	Het
Hyou1	C	T	9: 44,295,479 (GRCm39)	Q290*	probably null	Het
Inka1	A	G	9: 107,861,938 (GRCm39)	V128A	probably benign	Het
Itgb2	T	C	10: 77,400,624 (GRCm39)	S746P	probably benign	Het
Jmjd7	C	T	2: 119,860,589 (GRCm39)	L39F	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klhl2	T	C	8: 65,212,831 (GRCm39)	E236G	probably damaging	Het
Krtap19-4	C	A	16: 88,681,879 (GRCm39)	G26C	unknown	Het
Krtap4-16	G	A	11: 99,741,998 (GRCm39)	T134I	possibly damaging	Het
Lamb2	A	G	9: 108,365,298 (GRCm39)	H1318R	probably benign	Het
Mab21l3	G	A	3: 101,742,446 (GRCm39)	T38M	probably benign	Het
Mnat1	G	T	12: 73,226,007 (GRCm39)	G91*	probably null	Het
Mns1	A	T	9: 72,360,016 (GRCm39)	I389F	probably damaging	Het
Morc1	A	T	16: 48,443,001 (GRCm39)	T829S	probably benign	Het
Morn5	T	A	2: 35,943,089 (GRCm39)	V63E	probably benign	Het
Mybpc1	T	C	10: 88,389,157 (GRCm39)	T404A	possibly damaging	Het
Npc1l1	A	T	11: 6,178,846 (GRCm39)	M188K	probably damaging	Het
Nrcam	T	A	12: 44,618,991 (GRCm39)	M846K	probably benign	Het
Nup210	A	C	6: 91,051,264 (GRCm39)	F373C	probably damaging	Het
Or4k49	G	T	2: 111,495,099 (GRCm39)	S176I	probably damaging	Het
Or5b111	A	T	19: 13,291,535 (GRCm39)	V38E	possibly damaging	Het
Or7g18	T	C	9: 18,787,376 (GRCm39)	V248A	probably damaging	Het
Osbpl8	T	C	10: 111,110,910 (GRCm39)	S471P	probably damaging	Het
Plekhn1	A	T	4: 156,306,838 (GRCm39)	I517N	probably benign	Het
Plin4	G	T	17: 56,411,931 (GRCm39)	T700K	probably damaging	Het
Plxna4	A	T	6: 32,494,379 (GRCm39)	V79D	probably damaging	Het
Prdm16	A	T	4: 154,419,718 (GRCm39)	M897K	probably damaging	Het
Ptprg	T	A	14: 12,091,410 (GRCm38)		probably null	Het
Rcan2	G	T	17: 44,347,924 (GRCm39)	C211F	probably damaging	Het
Rigi	A	G	4: 40,224,013 (GRCm39)	S289P	probably benign	Het
Rxfp1	C	T	3: 79,645,076 (GRCm39)	C9Y	probably benign	Het
Scn2a	G	A	2: 65,501,111 (GRCm39)		probably null	Het
Scnn1a	A	C	6: 125,309,157 (GRCm39)	R264S	probably damaging	Het
Sema4g	T	C	19: 44,986,459 (GRCm39)	V345A	probably benign	Het
Sgo2b	T	A	8: 64,380,426 (GRCm39)	D802V	probably benign	Het
Slc25a21	G	A	12: 56,904,872 (GRCm39)	T54I	probably benign	Het
Slc25a46	C	T	18: 31,727,641 (GRCm39)	E223K	probably damaging	Het
Slc25a54	A	G	3: 109,010,013 (GRCm39)	I171V	probably benign	Het
Slc7a6	T	C	8: 106,919,088 (GRCm39)	V224A	possibly damaging	Het
Smchd1	A	T	17: 71,694,001 (GRCm39)	V1248E	probably damaging	Het
Sort1	C	A	3: 108,233,015 (GRCm39)	F196L	probably damaging	Het
Sptbn4	G	A	7: 27,118,008 (GRCm39)	T357M	probably damaging	Het
Srrm3	T	A	5: 135,885,983 (GRCm39)	W308R	probably damaging	Het
Stard9	A	T	2: 120,531,970 (GRCm39)	E2742D	probably benign	Het
Tas1r1	T	A	4: 152,116,705 (GRCm39)	I310F	probably damaging	Het
Tas1r3	G	A	4: 155,944,927 (GRCm39)	R765C	probably damaging	Het
Tff1	A	T	17: 31,380,560 (GRCm39)	C85*	probably null	Het
Tlr11	C	T	14: 50,598,104 (GRCm39)	T30I	probably benign	Het
Trio	T	C	15: 27,748,426 (GRCm39)	T1265A	probably benign	Het
Ttc7b	T	C	12: 100,373,261 (GRCm39)	M338V	possibly damaging	Het
Umod	T	A	7: 119,063,947 (GRCm39)	S620C	probably damaging	Het
Ust	C	A	10: 8,173,819 (GRCm39)		probably null	Het
Vmn1r176	A	T	7: 23,534,609 (GRCm39)	S181R	probably damaging	Het
Vmn1r202	T	C	13: 22,686,313 (GRCm39)	T35A	probably benign	Het
Vmn1r39	C	A	6: 66,781,895 (GRCm39)	R104L	probably benign	Het
Vps13b	T	A	15: 35,430,351 (GRCm39)	Y286*	probably null	Het
Zfp579	G	A	7: 4,996,769 (GRCm39)	R381C	probably damaging	Het
Zfp85	A	G	13: 67,899,747 (GRCm39)	S71P	probably benign	Het
Zfyve16	A	T	13: 92,640,593 (GRCm39)	V1254E	probably damaging	Het

Other mutations in Mfsd10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
E0374:Mfsd10	UTSW	5	34,793,981 (GRCm39)	splice site	probably null
R0226:Mfsd10	UTSW	5	34,791,790 (GRCm39)	missense	probably benign	0.03
R0265:Mfsd10	UTSW	5	34,792,507 (GRCm39)	splice site	probably benign
R4235:Mfsd10	UTSW	5	34,792,969 (GRCm39)	missense	probably damaging	0.99
R4782:Mfsd10	UTSW	5	34,792,293 (GRCm39)	intron	probably benign
R5861:Mfsd10	UTSW	5	34,791,588 (GRCm39)	unclassified	probably benign
R6781:Mfsd10	UTSW	5	34,791,853 (GRCm39)	missense	possibly damaging	0.71
R7381:Mfsd10	UTSW	5	34,793,770 (GRCm39)	missense	probably damaging	1.00
R7846:Mfsd10	UTSW	5	34,793,456 (GRCm39)	nonsense	probably null
R9036:Mfsd10	UTSW	5	34,792,751 (GRCm39)	missense	probably benign	0.04
R9124:Mfsd10	UTSW	5	34,791,940 (GRCm39)	missense	probably benign	0.00
R9333:Mfsd10	UTSW	5	34,792,427 (GRCm39)	missense	probably damaging	0.99
R9356:Mfsd10	UTSW	5	34,794,048 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TAAATCTGTGATAGGCTAGGCATGG -3'
(R):5'- TGCTGCCCTAGGTTGGTAAG -3'

Sequencing Primer
(F):5'- CTAGGCATGGGGAGAGCTC -3'
(R):5'- CCCTAGGTTGGTAAGGGAGTC -3'

Posted On

2014-06-23