Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02458:Mfsd13a'

294524

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mfsd13a

Ensembl Gene

ENSMUSG00000025227

Gene Name

major facilitator superfamily domain containing 13a

Synonyms

4930538D17Rik, Tmem180, 4930449A08Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.530) question?

Stock #

IGL02458

Quality Score

Status

Chromosome

Chromosomal Location

46341121-46375252 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46372247 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 388 (E388G)

Ref Sequence

ENSEMBL: ENSMUSP00000119072 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040270] [ENSMUST00000086969] [ENSMUST00000128041] [ENSMUST00000128455] [ENSMUST00000142994]

AlphaFold

Q6PDE8

Predicted Effect

probably benign
Transcript: ENSMUST00000040270

SMART Domains

Protein: ENSMUSP00000039844
Gene: ENSMUSG00000025228

Domain	Start	End	E-Value	Type
ACTIN	9	376	4.18e-203	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000086969
AA Change: E388G

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

SMART Domains

Protein: ENSMUSP00000084189
Gene: ENSMUSG00000025227
AA Change: E388G

Domain	Start	End	E-Value	Type
Pfam:MFS_2	15	441	6.2e-23	PFAM
low complexity region	453	463	N/A	INTRINSIC
transmembrane domain	470	492	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000128041
AA Change: E388G

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

SMART Domains

Protein: ENSMUSP00000119072
Gene: ENSMUSG00000025227
AA Change: E388G

Domain	Start	End	E-Value	Type
Pfam:MFS_2	9	441	1.1e-26	PFAM
low complexity region	453	463	N/A	INTRINSIC
transmembrane domain	470	492	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128455

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137143

Predicted Effect

probably benign
Transcript: ENSMUST00000142994

SMART Domains

Protein: ENSMUSP00000122944
Gene: ENSMUSG00000025227

Domain	Start	End	E-Value	Type
Pfam:MFS_2	8	318	7.8e-17	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 40,753,807	I37L	probably benign	Het
Alpk1	A	G	3: 127,681,319		probably null	Het
Ankrd33	T	C	15: 101,116,607	F8L	probably damaging	Het
Avil	A	G	10: 127,016,353	K669R	probably benign	Het
Bcor	G	T	X: 12,048,510	L1165I	probably damaging	Het
C7	A	G	15: 5,059,389		probably benign	Het
Cc2d2a	A	G	5: 43,718,554	I958V	probably benign	Het
Cenpe	A	T	3: 135,230,108	K435*	probably null	Het
Chrna7	G	A	7: 63,106,094	L235F	probably damaging	Het
Col6a3	C	A	1: 90,779,197	V2065L	unknown	Het
Copb1	A	T	7: 114,246,785	N183K	probably benign	Het
Cpn2	G	A	16: 30,260,835	A16V	probably benign	Het
Cul1	A	G	6: 47,525,608	K769E	possibly damaging	Het
Ddx58	A	G	4: 40,229,536	S83P	probably damaging	Het
Deup1	C	T	9: 15,592,360	V302M	probably benign	Het
Dnah17	T	C	11: 118,036,350	K3871E	probably damaging	Het
Dnah6	A	G	6: 73,027,448	V3844A	probably benign	Het
Dnah7a	A	T	1: 53,618,328	L763*	probably null	Het
Donson	A	T	16: 91,681,176	W461R	probably damaging	Het
Dpp10	T	C	1: 123,341,689	I664V	probably benign	Het
Dusp8	T	A	7: 142,082,747	T369S	probably benign	Het
Dync2h1	A	T	9: 7,117,422	L56Q	probably damaging	Het
Ecd	A	T	14: 20,324,477	S532T	probably benign	Het
Frg2f1	G	A	4: 119,530,957	T115I	probably damaging	Het
Gpatch2l	A	G	12: 86,288,961		probably benign	Het
Gtf3c2	T	A	5: 31,159,523		probably null	Het
Haghl	T	C	17: 25,783,496		probably benign	Het
Hoxc8	A	T	15: 102,992,749	N208I	probably damaging	Het
Igf2	T	C	7: 142,654,048	D115G	probably benign	Het
Jag2	T	A	12: 112,915,993	D385V	probably damaging	Het
Laptm4b	A	G	15: 34,258,742	H54R	probably benign	Het
Lrp2	A	G	2: 69,521,773	S640P	probably damaging	Het
Map3k8	A	C	18: 4,334,660	V328G	probably damaging	Het
Ms4a13	G	A	19: 11,171,928	T168I	probably benign	Het
Mtg1	C	A	7: 140,150,172	Q294K	probably benign	Het
Myh3	C	T	11: 67,096,940	A1413V	possibly damaging	Het
Neo1	A	T	9: 58,893,867		probably benign	Het
Ogfod3	T	C	11: 121,200,923	E119G	probably benign	Het
Olfr1250	A	G	2: 89,657,348	L31P	probably damaging	Het
Olfr1331	A	G	4: 118,869,300	N173S	possibly damaging	Het
Olfr331	A	T	11: 58,502,247	M109K	probably benign	Het
Olfr800	A	T	10: 129,660,606	I267F	probably benign	Het
Olfr988	G	A	2: 85,353,662	T88I	probably benign	Het
Parvb	G	T	15: 84,303,434	D248Y	probably damaging	Het
Pcdh11x	A	T	X: 120,400,618	H586L	possibly damaging	Het
Phactr2	T	C	10: 13,261,828	E120G	probably damaging	Het
Ppfibp2	A	T	7: 107,742,964	Q775L	probably damaging	Het
Rcbtb1	A	G	14: 59,229,994	Y427C	probably damaging	Het
Rftn2	A	T	1: 55,211,192	C131*	probably null	Het
Rps6ka2	A	G	17: 7,289,003	D474G	probably benign	Het
Rsbn1l	T	C	5: 20,951,736	E17G	probably damaging	Het
Ryr2	T	C	13: 11,705,699	M2688V	probably benign	Het
Slc22a18	C	A	7: 143,492,837		probably benign	Het
Smarcc1	A	G	9: 110,132,126		probably benign	Het
Soat2	T	C	15: 102,162,115	V451A	probably damaging	Het
Sptlc2	A	T	12: 87,309,893		probably benign	Het
Tada1	C	T	1: 166,392,634	L308F	probably damaging	Het
Tango2	A	T	16: 18,310,867		probably null	Het
Tbc1d15	A	T	10: 115,229,206	V158D	probably damaging	Het
Tcrg-V3	A	G	13: 19,243,253	Y102C	probably damaging	Het
Tmx2	A	T	2: 84,673,244		probably benign	Het
Tpte	T	A	8: 22,305,858	I79K	probably benign	Het
Trav6-1	A	G	14: 52,638,742	I40V	probably benign	Het
Ubash3a	T	C	17: 31,231,481	S377P	possibly damaging	Het
Vmn2r7	T	C	3: 64,693,025	D575G	probably damaging	Het
Vps41	A	G	13: 18,853,479	D704G	possibly damaging	Het
Vwa5a	T	C	9: 38,726,963	S261P	possibly damaging	Het
Zc3hav1	A	G	6: 38,340,329	V112A	probably damaging	Het

Other mutations in Mfsd13a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Mfsd13a	APN	19	46366519	missense	probably damaging	1.00
IGL01380:Mfsd13a	APN	19	46367908	missense	probably damaging	1.00
IGL01773:Mfsd13a	APN	19	46369294	missense	possibly damaging	0.60
IGL02955:Mfsd13a	APN	19	46367753	missense	possibly damaging	0.81
R0057:Mfsd13a	UTSW	19	46366504	missense	probably benign	0.22
R0113:Mfsd13a	UTSW	19	46366504	missense	probably benign	0.22
R0114:Mfsd13a	UTSW	19	46366504	missense	probably benign	0.22
R0115:Mfsd13a	UTSW	19	46366504	missense	probably benign	0.22
R0361:Mfsd13a	UTSW	19	46366504	missense	probably benign	0.22
R0656:Mfsd13a	UTSW	19	46366504	missense	probably benign	0.22
R1174:Mfsd13a	UTSW	19	46374686	missense	probably benign	0.13
R1210:Mfsd13a	UTSW	19	46366504	missense	probably benign	0.22
R1251:Mfsd13a	UTSW	19	46372053	missense	probably damaging	1.00
R1364:Mfsd13a	UTSW	19	46366504	missense	probably benign	0.22
R1365:Mfsd13a	UTSW	19	46366504	missense	probably benign	0.22
R1366:Mfsd13a	UTSW	19	46366504	missense	probably benign	0.22
R1367:Mfsd13a	UTSW	19	46366504	missense	probably benign	0.22
R1692:Mfsd13a	UTSW	19	46372076	missense	probably benign	0.00
R1852:Mfsd13a	UTSW	19	46372180	critical splice acceptor site	probably null
R1968:Mfsd13a	UTSW	19	46372053	missense	probably damaging	1.00
R2846:Mfsd13a	UTSW	19	46371992	missense	probably damaging	1.00
R2985:Mfsd13a	UTSW	19	46371992	missense	probably damaging	1.00
R3415:Mfsd13a	UTSW	19	46371992	missense	probably damaging	1.00
R3416:Mfsd13a	UTSW	19	46371992	missense	probably damaging	1.00
R3431:Mfsd13a	UTSW	19	46371992	missense	probably damaging	1.00
R3432:Mfsd13a	UTSW	19	46371992	missense	probably damaging	1.00
R3735:Mfsd13a	UTSW	19	46368328	missense	probably damaging	1.00
R4393:Mfsd13a	UTSW	19	46371992	missense	probably damaging	1.00
R4394:Mfsd13a	UTSW	19	46371992	missense	probably damaging	1.00
R4396:Mfsd13a	UTSW	19	46371992	missense	probably damaging	1.00
R4920:Mfsd13a	UTSW	19	46367216	missense	probably damaging	1.00
R5289:Mfsd13a	UTSW	19	46368280	missense	probably benign	0.00
R5806:Mfsd13a	UTSW	19	46366410	missense	probably benign	0.01
R6153:Mfsd13a	UTSW	19	46367882	missense	probably damaging	1.00
R6514:Mfsd13a	UTSW	19	46374625	splice site	probably null
R6558:Mfsd13a	UTSW	19	46366478	missense	probably damaging	1.00
R6649:Mfsd13a	UTSW	19	46367866	missense	probably damaging	0.99
R6649:Mfsd13a	UTSW	19	46372265	missense	probably benign
R6653:Mfsd13a	UTSW	19	46367866	missense	probably damaging	0.99
R6911:Mfsd13a	UTSW	19	46369277	missense	probably damaging	1.00
R7022:Mfsd13a	UTSW	19	46368324	nonsense	probably null
R7334:Mfsd13a	UTSW	19	46368370	missense	probably damaging	1.00
R7525:Mfsd13a	UTSW	19	46369277	missense	probably damaging	1.00
R7976:Mfsd13a	UTSW	19	46372007	missense	probably benign	0.03
R8696:Mfsd13a	UTSW	19	46368118	missense	probably benign
R8771:Mfsd13a	UTSW	19	46372229	missense	probably damaging	0.99
R8857:Mfsd13a	UTSW	19	46368128	missense	probably benign	0.00
R9056:Mfsd13a	UTSW	19	46366461	missense	probably benign	0.04
R9432:Mfsd13a	UTSW	19	46366429	missense	probably benign	0.05

Posted On

2015-04-16