Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01348:Mfsd4a'

75184

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mfsd4a

Ensembl Gene

ENSMUSG00000059149

Gene Name

major facilitator superfamily domain containing 4A

Synonyms

A930031D07Rik, Mfsd4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL01348

Quality Score

Status

Chromosome

Chromosomal Location

131950544-131995800 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131995564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1 (S1G)

Ref Sequence

ENSEMBL: ENSMUSP00000125138 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046658] [ENSMUST00000112365] [ENSMUST00000112370] [ENSMUST00000126927] [ENSMUST00000144548] [ENSMUST00000146267] [ENSMUST00000159038] [ENSMUST00000160656] [ENSMUST00000161864]

AlphaFold

Q6PDC8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046658
AA Change: S23G

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000039635
Gene: ENSMUSG00000059149
AA Change: S23G

Domain	Start	End	E-Value	Type
transmembrane domain	21	40	N/A	INTRINSIC
transmembrane domain	55	74	N/A	INTRINSIC
transmembrane domain	81	99	N/A	INTRINSIC
transmembrane domain	109	131	N/A	INTRINSIC
transmembrane domain	138	160	N/A	INTRINSIC
transmembrane domain	218	240	N/A	INTRINSIC
transmembrane domain	245	267	N/A	INTRINSIC
transmembrane domain	280	302	N/A	INTRINSIC
transmembrane domain	309	331	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112365
AA Change: S23G

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107984
Gene: ENSMUSG00000059149
AA Change: S23G

Domain	Start	End	E-Value	Type
Pfam:MFS_1	21	430	1.3e-14	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112370
AA Change: S23G

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107989
Gene: ENSMUSG00000059149
AA Change: S23G

Domain	Start	End	E-Value	Type
Pfam:MFS_1	21	405	1.1e-11	PFAM
transmembrane domain	433	455	N/A	INTRINSIC
transmembrane domain	460	482	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126927
AA Change: S23G

PolyPhen 2 Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116706
Gene: ENSMUSG00000059149
AA Change: S23G

Domain	Start	End	E-Value	Type
Pfam:MFS_1	21	405	1.1e-11	PFAM
transmembrane domain	433	455	N/A	INTRINSIC
transmembrane domain	460	482	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144548
AA Change: S23G

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116282
Gene: ENSMUSG00000059149
AA Change: S23G

Domain	Start	End	E-Value	Type
Pfam:MFS_1	21	396	4.2e-12	PFAM
transmembrane domain	398	420	N/A	INTRINSIC
transmembrane domain	433	455	N/A	INTRINSIC
transmembrane domain	460	482	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146267
AA Change: S23G

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000117864
Gene: ENSMUSG00000059149
AA Change: S23G

Domain	Start	End	E-Value	Type
transmembrane domain	21	40	N/A	INTRINSIC
transmembrane domain	55	74	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159038
AA Change: S23G

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000125558
Gene: ENSMUSG00000059149
AA Change: S23G

Domain	Start	End	E-Value	Type
Pfam:MFS_1	20	395	6.8e-12	PFAM
transmembrane domain	398	420	N/A	INTRINSIC
transmembrane domain	433	455	N/A	INTRINSIC
transmembrane domain	460	482	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000160656
AA Change: S1G

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125138
Gene: ENSMUSG00000059149
AA Change: S1G

Domain	Start	End	E-Value	Type
transmembrane domain	2	20	N/A	INTRINSIC
transmembrane domain	30	52	N/A	INTRINSIC
transmembrane domain	59	81	N/A	INTRINSIC
transmembrane domain	85	104	N/A	INTRINSIC
transmembrane domain	196	218	N/A	INTRINSIC
transmembrane domain	238	257	N/A	INTRINSIC
transmembrane domain	269	288	N/A	INTRINSIC
transmembrane domain	292	314	N/A	INTRINSIC
transmembrane domain	327	349	N/A	INTRINSIC
transmembrane domain	354	376	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000161864
AA Change: S23G

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000124961
Gene: ENSMUSG00000059149
AA Change: S23G

Domain	Start	End	E-Value	Type
transmembrane domain	21	40	N/A	INTRINSIC
transmembrane domain	55	74	N/A	INTRINSIC
transmembrane domain	81	103	N/A	INTRINSIC
transmembrane domain	107	126	N/A	INTRINSIC
Pfam:MFS_1	218	420	1.1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181695

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,467,213 (GRCm39)	E140G	probably null	Het
Adgrl3	A	G	5: 81,874,570 (GRCm39)	T956A	probably damaging	Het
Aff4	G	A	11: 53,293,327 (GRCm39)	S772N	probably benign	Het
Ark2n	A	G	18: 77,761,613 (GRCm39)	I233T	possibly damaging	Het
Atad5	A	G	11: 79,986,390 (GRCm39)	I492M	probably benign	Het
Atf4	T	C	15: 80,140,728 (GRCm39)		probably benign	Het
Atrip	A	G	9: 108,898,363 (GRCm39)	S219P	probably damaging	Het
Axl	G	A	7: 25,462,734 (GRCm39)	R656W	probably damaging	Het
B3gnt3	T	A	8: 72,145,648 (GRCm39)	Q240L	possibly damaging	Het
Baz2b	A	G	2: 59,764,031 (GRCm39)	V915A	possibly damaging	Het
Cacna1s	T	C	1: 136,002,890 (GRCm39)	V329A	possibly damaging	Het
Celf3	C	A	3: 94,395,535 (GRCm39)	Q388K	possibly damaging	Het
Ciita	T	C	16: 10,328,591 (GRCm39)	S292P	probably damaging	Het
Cip2a	A	G	16: 48,833,551 (GRCm39)	I551V	probably damaging	Het
Clec18a	G	A	8: 111,798,245 (GRCm39)	A423V	probably damaging	Het
Clnk	T	C	5: 38,870,550 (GRCm39)	D336G	probably damaging	Het
Csmd1	T	G	8: 15,960,596 (GRCm39)	H3273P	probably damaging	Het
Cyp3a11	A	T	5: 145,805,817 (GRCm39)	V157E	possibly damaging	Het
Dcp1b	T	C	6: 119,160,679 (GRCm39)	I87T	probably damaging	Het
Ell3	A	G	2: 121,272,277 (GRCm39)	S66P	probably damaging	Het
Ercc4	T	C	16: 12,950,798 (GRCm39)	F631L	probably damaging	Het
Etl4	T	A	2: 20,811,784 (GRCm39)	V1289D	probably damaging	Het
Gm16372	T	C	12: 24,543,606 (GRCm39)		probably benign	Het
Gm4553	C	T	7: 141,718,909 (GRCm39)	C173Y	unknown	Het
Gvin-ps5	T	A	7: 105,929,042 (GRCm39)	H285L	unknown	Het
Gykl1	A	T	18: 52,827,808 (GRCm39)	I339F	possibly damaging	Het
H60b	A	C	10: 22,162,078 (GRCm39)	N101T	possibly damaging	Het
Inpp4a	C	T	1: 37,427,986 (GRCm39)	T407I	probably damaging	Het
Itga11	A	G	9: 62,651,861 (GRCm39)	N331S	possibly damaging	Het
Kbtbd6	T	A	14: 79,690,783 (GRCm39)	C430S	probably damaging	Het
Mybpc2	C	A	7: 44,165,352 (GRCm39)	M372I	probably benign	Het
Myh10	A	T	11: 68,702,629 (GRCm39)	T1768S	probably benign	Het
Myh8	A	G	11: 67,188,606 (GRCm39)	K1063E	probably damaging	Het
Nat8f5	A	T	6: 85,794,862 (GRCm39)	F33I	probably damaging	Het
Nbeal2	T	G	9: 110,458,214 (GRCm39)	N2119T	probably damaging	Het
Nek11	C	T	9: 105,270,112 (GRCm39)	G37S	probably damaging	Het
Npc1l1	T	C	11: 6,177,974 (GRCm39)	N479D	probably damaging	Het
Nup160	A	G	2: 90,530,772 (GRCm39)	T477A	probably benign	Het
Or10al5	A	T	17: 38,063,177 (GRCm39)	H144L	probably benign	Het
Or5h18	T	A	16: 58,848,157 (GRCm39)	T38S	probably damaging	Het
Pcgf2	A	G	11: 97,581,066 (GRCm39)	V259A	probably benign	Het
Pmm1	A	G	15: 81,836,219 (GRCm39)	V131A	probably damaging	Het
Polr3a	A	T	14: 24,511,831 (GRCm39)	D908E	probably damaging	Het
Psg29	A	C	7: 16,944,598 (GRCm39)	R369S	probably benign	Het
Ptprq	T	A	10: 107,547,765 (GRCm39)	D211V	probably damaging	Het
Rdh9	A	G	10: 127,612,661 (GRCm39)	N103S	probably benign	Het
Riok3	T	C	18: 12,286,020 (GRCm39)		probably benign	Het
Serpinb1b	A	T	13: 33,275,398 (GRCm39)	Q174H	probably benign	Het
Sgip1	G	T	4: 102,772,353 (GRCm39)		probably null	Het
Sgpp1	A	T	12: 75,781,767 (GRCm39)	Y191N	probably damaging	Het
Slc12a1	A	G	2: 125,036,051 (GRCm39)	N641S	probably damaging	Het
Slc5a4b	T	C	10: 75,906,422 (GRCm39)	N399S	probably damaging	Het
Snx16	C	T	3: 10,484,219 (GRCm39)	A335T	probably damaging	Het
Sos2	C	T	12: 69,664,866 (GRCm39)	R355H	probably damaging	Het
Szt2	A	G	4: 118,250,821 (GRCm39)		probably benign	Het
Tbcd	T	A	11: 121,387,902 (GRCm39)	D344E	probably benign	Het
Tek	C	A	4: 94,747,895 (GRCm39)	Q988K	probably damaging	Het
Tgm6	A	G	2: 129,979,299 (GRCm39)	D143G	probably damaging	Het
Tpx2	A	G	2: 152,735,511 (GRCm39)	K713R	probably damaging	Het
Trappc9	T	A	15: 72,808,858 (GRCm39)	E556V	possibly damaging	Het
Trpm6	A	T	19: 18,855,015 (GRCm39)	K1891N	probably damaging	Het
Trpv1	G	A	11: 73,129,078 (GRCm39)		probably null	Het
Usp37	T	C	1: 74,500,861 (GRCm39)	S567G	probably damaging	Het
Zfp773	A	T	7: 7,138,314 (GRCm39)	V107D	possibly damaging	Het

Other mutations in Mfsd4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Mfsd4a	APN	1	131,968,332 (GRCm39)	missense	probably benign	0.34
IGL01621:Mfsd4a	APN	1	131,981,881 (GRCm39)	missense	probably benign	0.16
IGL01934:Mfsd4a	APN	1	131,974,049 (GRCm39)	missense	probably damaging	1.00
IGL02429:Mfsd4a	APN	1	131,956,237 (GRCm39)	missense	probably benign
R0362:Mfsd4a	UTSW	1	131,987,013 (GRCm39)	missense	probably damaging	1.00
R0551:Mfsd4a	UTSW	1	131,969,657 (GRCm39)	missense	probably damaging	1.00
R1435:Mfsd4a	UTSW	1	131,995,494 (GRCm39)	missense	probably damaging	1.00
R1566:Mfsd4a	UTSW	1	131,986,917 (GRCm39)	missense	probably damaging	1.00
R1739:Mfsd4a	UTSW	1	131,995,621 (GRCm39)	missense	possibly damaging	0.85
R1793:Mfsd4a	UTSW	1	131,987,077 (GRCm39)	missense	probably damaging	0.98
R1799:Mfsd4a	UTSW	1	131,981,334 (GRCm39)	missense	possibly damaging	0.63
R2244:Mfsd4a	UTSW	1	131,956,243 (GRCm39)	missense	probably benign	0.09
R3870:Mfsd4a	UTSW	1	131,974,091 (GRCm39)	missense	probably damaging	0.99
R4177:Mfsd4a	UTSW	1	131,968,295 (GRCm39)	missense	probably damaging	0.99
R4330:Mfsd4a	UTSW	1	131,981,291 (GRCm39)	missense	possibly damaging	0.71
R4705:Mfsd4a	UTSW	1	131,981,309 (GRCm39)	missense	probably damaging	1.00
R4717:Mfsd4a	UTSW	1	131,985,633 (GRCm39)	missense	probably benign	0.00
R5886:Mfsd4a	UTSW	1	131,995,465 (GRCm39)	missense	probably damaging	0.96
R5890:Mfsd4a	UTSW	1	131,966,666 (GRCm39)	missense	probably damaging	1.00
R7092:Mfsd4a	UTSW	1	131,995,401 (GRCm39)	missense	probably benign	0.06
R7189:Mfsd4a	UTSW	1	131,980,131 (GRCm39)	missense	probably damaging	1.00
R8675:Mfsd4a	UTSW	1	131,986,926 (GRCm39)	missense	probably damaging	1.00
R9668:Mfsd4a	UTSW	1	131,969,628 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07