Mutagenetix > Incidental Mutation

Incidental Mutation 'R4235:Mfsd10'

321059

Institutional Source

Beutler Lab

Gene Symbol

Mfsd10

Ensembl Gene

ENSMUSG00000001082

Gene Name

major facilitator superfamily domain containing 10

Synonyms

0610009O03Rik, Tetran

MMRRC Submission

041052-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4235 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34790988-34794558 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34792969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 44 (T44N)

Ref Sequence

ENSEMBL: ENSMUSP00000144239 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001108] [ENSMUST00000001109] [ENSMUST00000041364] [ENSMUST00000052836] [ENSMUST00000114329] [ENSMUST00000114331] [ENSMUST00000114335] [ENSMUST00000134156] [ENSMUST00000126257] [ENSMUST00000114338] [ENSMUST00000114340] [ENSMUST00000137150] [ENSMUST00000124668] [ENSMUST00000137506] [ENSMUST00000155577] [ENSMUST00000149657] [ENSMUST00000201147] [ENSMUST00000201810] [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: T173N

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000001109
Gene: ENSMUSG00000001082
AA Change: T173N

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: ENSMUST00000052836

SMART Domains

Protein: ENSMUSP00000052266
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: ENSMUST00000114329
AA Change: T173N

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000109968
Gene: ENSMUSG00000001082
AA Change: T173N

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: T173N

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000109970
Gene: ENSMUSG00000001082
AA Change: T173N

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

noncoding transcript
Transcript: ENSMUST00000138212

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148270

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: ENSMUST00000126257

SMART Domains

Protein: ENSMUSP00000144630
Gene: ENSMUSG00000001082

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136010

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137262

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137744

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128670

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

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: ENSMUST00000137150

SMART Domains

Protein: ENSMUSP00000120814
Gene: ENSMUSG00000001082

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

Predicted Effect

probably benign
Transcript: ENSMUST00000124668

SMART Domains

Protein: ENSMUSP00000119140
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
transmembrane domain	25	47	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: ENSMUST00000155577
AA Change: T173N

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000115204
Gene: ENSMUSG00000001082
AA Change: T173N

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

probably benign
Transcript: ENSMUST00000149657
AA Change: T173N

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000118786
Gene: ENSMUSG00000001082
AA Change: T173N

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: ENSMUST00000151247

Predicted Effect

probably damaging
Transcript: ENSMUST00000201147
AA Change: T44N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144239
Gene: ENSMUSG00000001082
AA Change: T44N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200717

Predicted Effect

probably benign
Transcript: ENSMUST00000202065

Predicted Effect

probably benign
Transcript: ENSMUST00000201810

SMART Domains

Protein: ENSMUSP00000144673
Gene: ENSMUSG00000029106

Domain	Start	End	E-Value	Type
coiled coil region	142	174	N/A	INTRINSIC

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

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (68/70)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 69,438,135 (GRCm39)	A53T	probably benign	Het
5730596B20Rik	G	T	6: 52,155,941 (GRCm39)		probably benign	Het
Akap6	T	A	12: 53,186,454 (GRCm39)	N1289K	probably damaging	Het
Arhgap21	A	G	2: 20,891,948 (GRCm39)	V161A	probably damaging	Het
Arhgef18	T	C	8: 3,500,317 (GRCm39)	I541T	possibly damaging	Het
Atp7b	A	G	8: 22,501,039 (GRCm39)	Y955H	possibly damaging	Het
Bnc2	A	G	4: 84,211,751 (GRCm39)	V231A	probably damaging	Het
Bod1l	A	G	5: 41,978,798 (GRCm39)	S839P	probably damaging	Het
Casp8	T	A	1: 58,872,857 (GRCm39)	H264Q	possibly damaging	Het
Cc2d1b	A	T	4: 108,482,549 (GRCm39)		probably benign	Het
Cpne6	A	T	14: 55,751,057 (GRCm39)		probably benign	Het
Ddx1	C	T	12: 13,273,858 (GRCm39)	V590I	possibly damaging	Het
Dgkd	T	A	1: 87,859,704 (GRCm39)	L774*	probably null	Het
Fbxl2	T	A	9: 113,818,231 (GRCm39)	N205I	probably benign	Het
Fcgbpl1	T	A	7: 27,856,073 (GRCm39)	D1953E	probably damaging	Het
Fkbp15	A	T	4: 62,254,693 (GRCm39)	I269K	probably benign	Het
Gm26678	T	C	3: 54,540,504 (GRCm39)		noncoding transcript	Het
Has1	G	T	17: 18,070,298 (GRCm39)	R208S	possibly damaging	Het
Hecw1	C	G	13: 14,491,724 (GRCm39)	A423P	probably benign	Het
Hspa12b	T	C	2: 130,980,932 (GRCm39)	V162A	probably benign	Het
Ifi208	T	G	1: 173,510,477 (GRCm39)	S211A	probably benign	Het
Ighv6-3	T	C	12: 114,355,494 (GRCm39)	E65G	probably damaging	Het
Igkv9-120	A	T	6: 68,027,317 (GRCm39)	D77V	probably benign	Het
Impg1	A	G	9: 80,252,611 (GRCm39)	L523P	probably damaging	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Kdm2a	A	G	19: 4,372,549 (GRCm39)	I932T	probably damaging	Het
Krt17	T	C	11: 100,148,694 (GRCm39)	T279A	possibly damaging	Het
Lamp1	T	C	8: 13,217,192 (GRCm39)	V67A	possibly damaging	Het
Limk1	T	C	5: 134,699,332 (GRCm39)	I142V	probably benign	Het
Mamdc2	T	C	19: 23,351,381 (GRCm39)	N182D	possibly damaging	Het
Mcpt1	G	A	14: 56,256,017 (GRCm39)		probably null	Het
Med12l	T	G	3: 59,164,644 (GRCm39)		probably null	Het
Mrps27	T	C	13: 99,541,549 (GRCm39)	S218P	probably damaging	Het
Mrps30	T	C	13: 118,523,376 (GRCm39)	D132G	probably damaging	Het
Neil2	A	C	14: 63,429,290 (GRCm39)	M1R	probably null	Het
Nelfcd	T	C	2: 174,268,841 (GRCm39)	F587L	probably damaging	Het
Nfil3	T	C	13: 53,122,835 (GRCm39)	D23G	probably benign	Het
Nit2	T	C	16: 56,977,523 (GRCm39)	K169R	probably benign	Het
Nxt1	T	C	2: 148,517,267 (GRCm39)	S3P	probably benign	Het
Ogt	A	G	X: 100,711,131 (GRCm39)	N434D	probably damaging	Het
Or56a3	T	A	7: 104,734,994 (GRCm39)	S24T	possibly damaging	Het
Pcdhga5	A	G	18: 37,829,001 (GRCm39)	D483G	possibly damaging	Het
Pramel25	G	C	4: 143,521,344 (GRCm39)	C320S	probably damaging	Het
Ralgapa1	C	T	12: 55,687,429 (GRCm39)	R2019Q	probably damaging	Het
Rsl1	T	C	13: 67,325,226 (GRCm39)		probably null	Het
Sobp	G	A	10: 42,898,896 (GRCm39)	H230Y	probably damaging	Het
Sptan1	A	G	2: 29,916,600 (GRCm39)	E2096G	probably damaging	Het
Tie1	G	T	4: 118,335,602 (GRCm39)	S797*	probably null	Het
Tmem266	T	C	9: 55,325,391 (GRCm39)	I186T	probably damaging	Het
Tmem38b	T	C	4: 53,840,710 (GRCm39)	C66R	probably damaging	Het
Tnfaip6	T	C	2: 51,940,876 (GRCm39)	F139S	probably damaging	Het
Tnrc6a	T	C	7: 122,770,903 (GRCm39)	S898P	probably benign	Het
Trim24	A	G	6: 37,941,675 (GRCm39)	D911G	probably damaging	Het
Tyw5	T	C	1: 57,427,647 (GRCm39)		probably benign	Het
Ubr3	C	T	2: 69,846,729 (GRCm39)	Q1651*	probably null	Het
Unc13c	T	A	9: 73,438,234 (GRCm39)	I1943F	possibly damaging	Het
Usp47	T	A	7: 111,709,255 (GRCm39)	S1334T	probably damaging	Het
Vmn1r215	T	A	13: 23,260,101 (GRCm39)	V47E	probably benign	Het
Vmn1r224	T	A	17: 20,639,624 (GRCm39)	M67K	possibly damaging	Het
Wdfy3	T	A	5: 102,070,500 (GRCm39)		probably null	Het
Zfc3h1	T	C	10: 115,254,704 (GRCm39)	Y1433H	probably benign	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
R1803:Mfsd10	UTSW	5	34,794,094 (GRCm39)	missense	possibly damaging	0.81
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'- GGCACCATTTCCACAGACAG -3'
(R):5'- AGGGTTATATGCTTGCCTGC -3'

Sequencing Primer
(F):5'- TTTCCACAGACAGGAATGCTC -3'
(R):5'- AAGTGACCGATCCTGCCACTTG -3'

Posted On

2015-06-12