Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01518:Mfsd6'

89377

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mfsd6

Ensembl Gene

ENSMUSG00000041439

Gene Name

major facilitator superfamily domain containing 6

Synonyms

2210010L05Rik, 9630025I22Rik, MMR2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

IGL01518

Quality Score

Status

Chromosome

Chromosomal Location

52695463-52766495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 52748481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 128 (R128L)

Ref Sequence

ENSEMBL: ENSMUSP00000122881 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087701] [ENSMUST00000156876]

AlphaFold

Q8CBH5

Predicted Effect

probably damaging
Transcript: ENSMUST00000087701
AA Change: R128L

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

SMART Domains

Protein: ENSMUSP00000084991
Gene: ENSMUSG00000041439
AA Change: R128L

Domain	Start	End	E-Value	Type
low complexity region	33	48	N/A	INTRINSIC
Pfam:MFS_1_like	68	144	4.8e-19	PFAM
Pfam:MFS_1	70	162	7e-11	PFAM
Pfam:MFS_2	72	571	3.8e-13	PFAM
Pfam:Nuc_H_symport	424	628	1.1e-11	PFAM
Pfam:MFS_1	453	708	6.3e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147421

Predicted Effect

probably benign
Transcript: ENSMUST00000147758

SMART Domains

Protein: ENSMUSP00000115398
Gene: ENSMUSG00000041439

Domain	Start	End	E-Value	Type
low complexity region	89	101	N/A	INTRINSIC
transmembrane domain	120	142	N/A	INTRINSIC
transmembrane domain	163	185	N/A	INTRINSIC
transmembrane domain	200	219	N/A	INTRINSIC
Pfam:Nuc_H_symport	255	459	1.4e-11	PFAM
Pfam:MFS_1	284	539	6.8e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000156876
AA Change: R128L

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

SMART Domains

Protein: ENSMUSP00000122881
Gene: ENSMUSG00000041439
AA Change: R128L

Domain	Start	End	E-Value	Type
low complexity region	33	48	N/A	INTRINSIC
Pfam:MFS_1_like	68	144	6.2e-20	PFAM
Pfam:MFS_1	70	162	1.8e-10	PFAM
low complexity region	258	270	N/A	INTRINSIC
transmembrane domain	289	311	N/A	INTRINSIC
transmembrane domain	332	354	N/A	INTRINSIC
transmembrane domain	369	388	N/A	INTRINSIC
Pfam:Nuc_H_symport	424	628	2.6e-11	PFAM
Pfam:MFS_1	453	707	1.7e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190228

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447F04Rik	A	C	X: 65,347,660 (GRCm39)	V16G	unknown	Het
4933427I04Rik	A	T	4: 123,754,494 (GRCm39)	E136V	probably benign	Het
Aadac	A	G	3: 59,943,320 (GRCm39)	D75G	probably damaging	Het
Arfgap1	T	A	2: 180,614,518 (GRCm39)	S125T	probably benign	Het
Atxn2	G	T	5: 121,949,042 (GRCm39)	A813S	probably damaging	Het
Cadps	C	A	14: 12,522,352 (GRCm38)	S604I	probably damaging	Het
Ces1a	G	T	8: 93,771,726 (GRCm39)	P24T	probably damaging	Het
Col4a4	T	A	1: 82,433,480 (GRCm39)	M1488L	unknown	Het
Fndc3c1	T	C	X: 105,475,029 (GRCm39)	N941S	probably damaging	Het
Fryl	T	C	5: 73,244,305 (GRCm39)	Y1172C	possibly damaging	Het
Gm1527	T	C	3: 28,949,737 (GRCm39)		probably benign	Het
Hsf2	T	C	10: 57,388,230 (GRCm39)	L458P	probably damaging	Het
Il2	T	C	3: 37,177,156 (GRCm39)	T127A	possibly damaging	Het
Inpp5e	A	G	2: 26,287,946 (GRCm39)	Y617H	probably damaging	Het
Isoc2b	G	A	7: 4,853,763 (GRCm39)	S137F	probably damaging	Het
Map2	C	T	1: 66,464,490 (GRCm39)	P241S	probably damaging	Het
Mrnip	A	G	11: 50,088,462 (GRCm39)	T153A	probably damaging	Het
Or4x6	A	G	2: 89,949,315 (GRCm39)	F209S	possibly damaging	Het
Or8d1	A	T	9: 38,767,095 (GRCm39)	M246L	probably benign	Het
Pi4ka	T	C	16: 17,098,599 (GRCm39)	N2022S	probably benign	Het
Scrt2	C	A	2: 151,935,560 (GRCm39)	R238S	probably damaging	Het
St3gal6	T	A	16: 58,305,138 (GRCm39)	D108V	probably benign	Het
Tmem132b	C	T	5: 125,855,855 (GRCm39)	T529M	probably damaging	Het
Trappc11	T	C	8: 47,954,904 (GRCm39)		probably null	Het
Tspyl1	T	A	10: 34,159,195 (GRCm39)	S307T	possibly damaging	Het
Ush2a	A	G	1: 188,131,982 (GRCm39)	S735G	probably benign	Het
Wnk2	T	C	13: 49,221,668 (GRCm39)	M1186V	possibly damaging	Het

Other mutations in Mfsd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Mfsd6	APN	1	52,747,413 (GRCm39)	missense	probably damaging	1.00
IGL00820:Mfsd6	APN	1	52,747,465 (GRCm39)	missense	probably damaging	1.00
IGL02111:Mfsd6	APN	1	52,747,503 (GRCm39)	missense	probably damaging	1.00
IGL02517:Mfsd6	APN	1	52,702,436 (GRCm39)	splice site	probably benign
IGL02687:Mfsd6	APN	1	52,747,834 (GRCm39)	missense	probably damaging	0.99
IGL02887:Mfsd6	APN	1	52,748,037 (GRCm39)	missense	probably benign	0.19
IGL02901:Mfsd6	APN	1	52,747,632 (GRCm39)	missense	probably benign	0.07
IGL03030:Mfsd6	APN	1	52,748,862 (GRCm39)	start codon destroyed	probably null	1.00
PIT4280001:Mfsd6	UTSW	1	52,700,039 (GRCm39)	missense	probably benign	0.00
PIT4466001:Mfsd6	UTSW	1	52,748,056 (GRCm39)	missense	probably benign	0.03
R0043:Mfsd6	UTSW	1	52,747,811 (GRCm39)	nonsense	probably null
R0113:Mfsd6	UTSW	1	52,748,348 (GRCm39)	missense	probably damaging	1.00
R0226:Mfsd6	UTSW	1	52,697,849 (GRCm39)	intron	probably benign
R0302:Mfsd6	UTSW	1	52,748,616 (GRCm39)	missense	probably damaging	1.00
R0613:Mfsd6	UTSW	1	52,697,855 (GRCm39)	intron	probably benign
R1126:Mfsd6	UTSW	1	52,748,670 (GRCm39)	missense	probably benign	0.16
R1368:Mfsd6	UTSW	1	52,747,764 (GRCm39)	missense	possibly damaging	0.49
R1471:Mfsd6	UTSW	1	52,748,716 (GRCm39)	missense	probably benign	0.32
R1733:Mfsd6	UTSW	1	52,748,524 (GRCm39)	missense	probably damaging	1.00
R1768:Mfsd6	UTSW	1	52,699,964 (GRCm39)	critical splice donor site	probably null
R1951:Mfsd6	UTSW	1	52,748,517 (GRCm39)	missense	probably damaging	1.00
R2031:Mfsd6	UTSW	1	52,748,013 (GRCm39)	missense	probably benign	0.04
R2116:Mfsd6	UTSW	1	52,700,134 (GRCm39)	missense	probably benign	0.21
R2240:Mfsd6	UTSW	1	52,699,978 (GRCm39)	missense	probably damaging	0.97
R2242:Mfsd6	UTSW	1	52,748,757 (GRCm39)	missense	probably benign	0.03
R2303:Mfsd6	UTSW	1	52,715,672 (GRCm39)	missense	probably damaging	0.98
R2382:Mfsd6	UTSW	1	52,747,569 (GRCm39)	missense	probably benign	0.10
R4568:Mfsd6	UTSW	1	52,702,448 (GRCm39)	nonsense	probably null
R4801:Mfsd6	UTSW	1	52,748,755 (GRCm39)	missense	probably benign	0.08
R4802:Mfsd6	UTSW	1	52,748,755 (GRCm39)	missense	probably benign	0.08
R4958:Mfsd6	UTSW	1	52,700,183 (GRCm39)	missense	probably damaging	1.00
R5134:Mfsd6	UTSW	1	52,747,515 (GRCm39)	missense	possibly damaging	0.80
R5827:Mfsd6	UTSW	1	52,701,551 (GRCm39)	missense	probably damaging	1.00
R5844:Mfsd6	UTSW	1	52,697,542 (GRCm39)	missense	probably benign
R6124:Mfsd6	UTSW	1	52,747,411 (GRCm39)	missense	probably damaging	1.00
R6435:Mfsd6	UTSW	1	52,748,603 (GRCm39)	nonsense	probably null
R6515:Mfsd6	UTSW	1	52,700,120 (GRCm39)	missense	probably damaging	1.00
R6874:Mfsd6	UTSW	1	52,699,868 (GRCm39)	missense	probably benign	0.02
R6878:Mfsd6	UTSW	1	52,747,912 (GRCm39)	missense	probably damaging	0.98
R7111:Mfsd6	UTSW	1	52,748,917 (GRCm39)	splice site	probably null
R7170:Mfsd6	UTSW	1	52,701,547 (GRCm39)	critical splice donor site	probably null
R7242:Mfsd6	UTSW	1	52,748,633 (GRCm39)	missense	probably damaging	0.98
R7548:Mfsd6	UTSW	1	52,702,446 (GRCm39)	missense	possibly damaging	0.79
R7664:Mfsd6	UTSW	1	52,748,212 (GRCm39)	missense	probably benign	0.00
R7686:Mfsd6	UTSW	1	52,701,554 (GRCm39)	missense	probably benign	0.00
R7747:Mfsd6	UTSW	1	52,715,706 (GRCm39)	missense	probably benign	0.05
R7763:Mfsd6	UTSW	1	52,747,799 (GRCm39)	missense	probably benign
R8138:Mfsd6	UTSW	1	52,748,671 (GRCm39)	missense	probably benign
R8150:Mfsd6	UTSW	1	52,747,800 (GRCm39)	missense	probably benign	0.00
R8807:Mfsd6	UTSW	1	52,697,706 (GRCm39)	critical splice acceptor site	probably benign
R8938:Mfsd6	UTSW	1	52,748,454 (GRCm39)	missense	probably damaging	1.00
R9229:Mfsd6	UTSW	1	52,747,903 (GRCm39)	missense	probably damaging	1.00
R9276:Mfsd6	UTSW	1	52,747,514 (GRCm39)	nonsense	probably null
R9480:Mfsd6	UTSW	1	52,699,835 (GRCm39)	missense	unknown
Z1177:Mfsd6	UTSW	1	52,697,660 (GRCm39)	missense	probably benign

Posted On

2013-12-03