Mutagenetix > Incidental Mutation

Incidental Mutation 'E0374:Mfsd10'

233310

Institutional Source

Beutler Lab

Gene Symbol

Mfsd10

Ensembl Gene

ENSMUSG00000001082

Gene Name

major facilitator superfamily domain containing 10

Synonyms

0610009O03Rik, Tetran

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

E0374 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

34790988-34794558 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 34793981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001108] [ENSMUST00000001109] [ENSMUST00000041364] [ENSMUST00000114329] [ENSMUST00000114331] [ENSMUST00000114335] [ENSMUST00000114338] [ENSMUST00000124668] [ENSMUST00000126257] [ENSMUST00000149657] [ENSMUST00000137150] [ENSMUST00000114340] [ENSMUST00000137506] [ENSMUST00000134156] [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 damaging
Transcript: ENSMUST00000001109
AA Change: L44Q

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

SMART Domains

Protein: ENSMUSP00000001109
Gene: ENSMUSG00000001082
AA Change: L44Q

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 damaging
Transcript: ENSMUST00000114329
AA Change: L44Q

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

SMART Domains

Protein: ENSMUSP00000109968
Gene: ENSMUSG00000001082
AA Change: L44Q

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 damaging
Transcript: ENSMUST00000114331
AA Change: L44Q

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

SMART Domains

Protein: ENSMUSP00000109970
Gene: ENSMUSG00000001082
AA Change: L44Q

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

probably damaging
Transcript: ENSMUST00000124668
AA Change: L44Q

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

SMART Domains

Protein: ENSMUSP00000119140
Gene: ENSMUSG00000001082
AA Change: L44Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000126257
AA Change: L44Q

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

SMART Domains

Protein: ENSMUSP00000144630
Gene: ENSMUSG00000001082
AA Change: L44Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000149657
AA Change: L44Q

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

SMART Domains

Protein: ENSMUSP00000118786
Gene: ENSMUSG00000001082
AA Change: L44Q

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

probably damaging
Transcript: ENSMUST00000137150
AA Change: L44Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120814
Gene: ENSMUSG00000001082
AA Change: L44Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136010

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151247

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138212

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137744

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 null
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: ENSMUST00000134156

SMART Domains

Protein: ENSMUSP00000143812
Gene: ENSMUSG00000001082

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000155577
AA Change: L44Q

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

SMART Domains

Protein: ENSMUSP00000115204
Gene: ENSMUSG00000001082
AA Change: L44Q

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 null
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: ENSMUST00000201897

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 null
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: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.0%

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Antxr1	A	G	6: 87,232,861 (GRCm39)	S234P	probably benign	Het
Bbox1	A	G	2: 110,098,656 (GRCm39)	V307A	probably damaging	Het
Ccr6	T	C	17: 8,475,284 (GRCm39)	V163A	probably damaging	Het
Cdkn3	C	A	14: 47,004,630 (GRCm39)		probably null	Het
Chst13	C	A	6: 90,286,174 (GRCm39)	E263*	probably null	Het
Dctn1	T	A	6: 83,171,156 (GRCm39)	C754S	possibly damaging	Het
Dlgap4	T	G	2: 156,603,763 (GRCm39)	I185S	probably damaging	Het
Heca	T	A	10: 17,783,924 (GRCm39)	H443L	probably damaging	Het
Klkb1	C	T	8: 45,742,128 (GRCm39)	M50I	possibly damaging	Het
Lamb1	A	G	12: 31,337,929 (GRCm39)	Y414C	probably damaging	Het
Maff	C	A	15: 79,241,875 (GRCm39)	N97K	probably damaging	Het
Map1s	T	A	8: 71,358,661 (GRCm39)		probably benign	Het
Nfam1	T	G	15: 82,900,611 (GRCm39)	I124L	probably benign	Het
Omg	T	G	11: 79,393,775 (GRCm39)	I28L	probably benign	Het
Pfkm	A	T	15: 98,021,114 (GRCm39)	I311F	probably damaging	Het
Sap30	T	A	8: 57,938,095 (GRCm39)	N174I	probably damaging	Het
Sdc1	T	A	12: 8,839,424 (GRCm39)	N28K	probably damaging	Het
Trabd2b	T	G	4: 114,457,094 (GRCm39)	V337G	probably damaging	Het

Other mutations in Mfsd10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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'- GATGGCTGAAGCAAACCAGTC -3'
(R):5'- TCTGGCAAGAACCTGCAAATTC -3'

Sequencing Primer
(F):5'- AGTCTACCCCACGCTGC -3'
(R):5'- CAGCTTTCAATTGTCAGGTAAACGG -3'

Posted On

2014-10-01