Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01934:Mfsd4a'

180571

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 #

IGL01934

Quality Score

Status

Chromosome

Chromosomal Location

131950544-131995800 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131974049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 343 (Y343C)

Ref Sequence

ENSEMBL: ENSMUSP00000124961 (fasta)

Gene Model

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

AlphaFold

Q6PDC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000046658
AA Change: Y275C

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

SMART Domains

Protein: ENSMUSP00000039635
Gene: ENSMUSG00000059149
AA Change: Y275C

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

probably damaging
Transcript: ENSMUST00000112365
AA Change: Y427C

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

SMART Domains

Protein: ENSMUSP00000107984
Gene: ENSMUSG00000059149
AA Change: Y427C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000112370
AA Change: Y427C

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

SMART Domains

Protein: ENSMUSP00000107989
Gene: ENSMUSG00000059149
AA Change: Y427C

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

probably damaging
Transcript: ENSMUST00000126927
AA Change: Y427C

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

SMART Domains

Protein: ENSMUSP00000116706
Gene: ENSMUSG00000059149
AA Change: Y427C

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

probably damaging
Transcript: ENSMUST00000144548
AA Change: Y427C

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

SMART Domains

Protein: ENSMUSP00000116282
Gene: ENSMUSG00000059149
AA Change: Y427C

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

SMART Domains

Protein: ENSMUSP00000117864
Gene: ENSMUSG00000059149

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000159038
AA Change: Y427C

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

SMART Domains

Protein: ENSMUSP00000125558
Gene: ENSMUSG00000059149
AA Change: Y427C

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

unknown
Transcript: ENSMUST00000160656
AA Change: Y321C

SMART Domains

Protein: ENSMUSP00000125138
Gene: ENSMUSG00000059149
AA Change: Y321C

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 damaging
Transcript: ENSMUST00000161864
AA Change: Y343C

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

SMART Domains

Protein: ENSMUSP00000124961
Gene: ENSMUSG00000059149
AA Change: Y343C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159382

Predicted Effect

probably benign
Transcript: ENSMUST00000162628

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,823,112 (GRCm39)	K362E	probably damaging	Het
4932438H23Rik	T	A	16: 90,852,753 (GRCm39)	T128S	probably damaging	Het
Aars1	T	A	8: 111,774,650 (GRCm39)	I593N	probably damaging	Het
Abca6	A	T	11: 110,079,481 (GRCm39)	N1224K	probably benign	Het
Abcc5	A	T	16: 20,241,191 (GRCm39)		probably benign	Het
Adam7	A	G	14: 68,770,048 (GRCm39)	L35P	probably damaging	Het
Ahnak	T	A	19: 8,980,021 (GRCm39)	L435Q	probably damaging	Het
Ankef1	A	G	2: 136,394,451 (GRCm39)	E620G	possibly damaging	Het
Aoc1l3	A	T	6: 48,965,695 (GRCm39)	I568F	probably damaging	Het
Ap3d1	A	T	10: 80,545,092 (GRCm39)	L1082*	probably null	Het
Atp6v0a4	T	A	6: 38,028,481 (GRCm39)	I712F	possibly damaging	Het
Bco1	T	A	8: 117,822,784 (GRCm39)	F5L	possibly damaging	Het
Cacna2d4	A	T	6: 119,285,729 (GRCm39)	S794C	probably damaging	Het
Camk2d	T	C	3: 126,628,304 (GRCm39)		probably null	Het
Capn15	T	C	17: 26,181,998 (GRCm39)	T604A	probably damaging	Het
Cd180	A	T	13: 102,839,366 (GRCm39)	D83V	probably damaging	Het
Ces1a	C	A	8: 93,759,278 (GRCm39)	R286L	probably damaging	Het
Col6a6	A	G	9: 105,575,858 (GRCm39)		probably null	Het
Crnkl1	A	G	2: 145,773,202 (GRCm39)	V148A	probably benign	Het
Epas1	A	T	17: 87,131,157 (GRCm39)	K312N	probably damaging	Het
Fbxw2	T	C	2: 34,712,618 (GRCm39)	S148G	probably damaging	Het
Fig4	T	C	10: 41,104,108 (GRCm39)	T791A	probably benign	Het
Galnt9	A	T	5: 110,750,502 (GRCm39)	I340F	possibly damaging	Het
Gfap	G	A	11: 102,785,286 (GRCm39)	A230V	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm454	T	C	5: 138,205,424 (GRCm39)		noncoding transcript	Het
Il24	A	T	1: 130,811,614 (GRCm39)	L115Q	probably damaging	Het
Ipp	C	A	4: 116,367,852 (GRCm39)	N28K	probably damaging	Het
Kalrn	A	T	16: 34,018,882 (GRCm39)		probably null	Het
Klf10	C	T	15: 38,297,528 (GRCm39)	V171M	probably benign	Het
Man1b1	T	C	2: 25,235,523 (GRCm39)	S350P	probably benign	Het
Mrpl58	C	A	11: 115,301,555 (GRCm39)		probably benign	Het
Myo7b	A	G	18: 32,134,394 (GRCm39)		probably null	Het
Nbas	T	C	12: 13,339,880 (GRCm39)		probably benign	Het
Nisch	A	G	14: 30,898,696 (GRCm39)		probably benign	Het
Or1o2	A	T	17: 37,542,439 (GRCm39)	V274D	probably damaging	Het
Or52z14	T	C	7: 103,253,182 (GRCm39)	F107S	probably damaging	Het
Or5p69	A	G	7: 107,967,368 (GRCm39)	I224V	probably damaging	Het
Parva	T	A	7: 112,187,760 (GRCm39)	C352*	probably null	Het
Ptf1a	T	A	2: 19,451,431 (GRCm39)	C254S	possibly damaging	Het
R3hdm1	G	T	1: 128,164,272 (GRCm39)	R1062L	probably benign	Het
Rnf44	A	G	13: 54,829,763 (GRCm39)	V407A	probably damaging	Het
Shank3	T	C	15: 89,434,049 (GRCm39)	L1598P	probably damaging	Het
Slit2	T	C	5: 48,395,747 (GRCm39)	S717P	possibly damaging	Het
Tdpoz4	A	G	3: 93,704,779 (GRCm39)	K359E	probably damaging	Het
Tmtc4	A	T	14: 123,165,047 (GRCm39)	L604*	probably null	Het
Tnfrsf21	A	T	17: 43,376,078 (GRCm39)	N488I	probably benign	Het
Tnfsf8	A	G	4: 63,752,747 (GRCm39)		probably benign	Het
Tnpo3	A	T	6: 29,575,019 (GRCm39)	L382M	probably benign	Het
Tut1	T	C	19: 8,931,355 (GRCm39)	C18R	probably damaging	Het
Ugt8a	A	G	3: 125,708,424 (GRCm39)	S229P	probably benign	Het
Usp22	T	C	11: 61,046,114 (GRCm39)	E476G	probably damaging	Het
Vill	G	T	9: 118,895,877 (GRCm39)	A146S	probably damaging	Het
Vmn1r178	T	C	7: 23,593,362 (GRCm39)	Y137H	probably damaging	Het
Wdfy1	A	T	1: 79,717,833 (GRCm39)	W51R	probably damaging	Het
Zc3hav1	A	T	6: 38,296,768 (GRCm39)		probably null	Het
Zfp236	A	T	18: 82,651,245 (GRCm39)	V889E	probably damaging	Het
Zscan20	T	C	4: 128,486,277 (GRCm39)	D141G	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
IGL01348:Mfsd4a	APN	1	131,995,564 (GRCm39)	missense	probably null	0.96
IGL01621:Mfsd4a	APN	1	131,981,881 (GRCm39)	missense	probably benign	0.16
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

2014-05-07