Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02111:Mfsd6'

280120

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mfsd6

Ensembl Gene

ENSMUSG00000041439

Gene Name

major facilitator superfamily domain containing 6

Synonyms

MMR2, 9630025I22Rik, 2210010L05Rik

Accession Numbers

Ncbi RefSeq: NM_133829.2, NM_178081.4; MGI:1922925

Is this an essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

IGL02111

Quality Score

Status

Chromosome

Chromosomal Location

52656286-52727462 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52708344 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 454 (L454Q)

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: L454Q

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

SMART Domains

Protein: ENSMUSP00000084991
Gene: ENSMUSG00000041439
AA Change: L454Q

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

unknown
Transcript: ENSMUST00000147758
AA Change: L284Q

SMART Domains

Protein: ENSMUSP00000115398
Gene: ENSMUSG00000041439
AA Change: L284Q

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: L454Q

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

SMART Domains

Protein: ENSMUSP00000122881
Gene: ENSMUSG00000041439
AA Change: L454Q

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530077C05Rik	T	C	9: 22,424,179	I31T	probably benign	Het
Adgrg3	G	A	8: 95,034,999	R130Q	probably damaging	Het
Adipor2	A	T	6: 119,370,196	L42*	probably null	Het
Ankrd45	A	G	1: 161,163,351	K259E	probably damaging	Het
Apoc3	T	C	9: 46,234,474	K79R	possibly damaging	Het
Arhgap40	T	C	2: 158,539,844	Y416H	probably damaging	Het
Armc5	A	G	7: 128,244,083	T683A	probably benign	Het
Bora	T	C	14: 99,047,377	V21A	probably damaging	Het
Cacna1b	C	T	2: 24,606,991	S2189N	probably damaging	Het
Cct2	G	A	10: 117,053,112	T57I	probably damaging	Het
Cd200r1	A	T	16: 44,788,781	N34Y	probably damaging	Het
Cd300ld2	T	A	11: 115,012,393		probably benign	Het
Cntnap5a	G	A	1: 116,089,352	R225H	probably benign	Het
Cntnap5c	A	T	17: 58,102,108	D447V	probably damaging	Het
Cpne7	T	C	8: 123,125,653		probably benign	Het
Dap3	G	A	3: 88,929,418	T92I	probably benign	Het
Dnmbp	A	G	19: 43,867,555	L254P	probably damaging	Het
Egfem1	G	A	3: 29,650,896		probably null	Het
Fam120b	T	C	17: 15,402,585	L275P	possibly damaging	Het
Fam161a	A	T	11: 23,020,026	H68L	probably benign	Het
Fam193a	A	G	5: 34,410,657	E100G	possibly damaging	Het
Ftmt	A	T	18: 52,332,053	D147V	possibly damaging	Het
Gm10136	T	C	19: 29,003,722	K41E	probably benign	Het
Gm10797	C	T	10: 67,572,567		noncoding transcript	Het
Hsf1	A	G	15: 76,496,081		probably benign	Het
Ipo8	A	G	6: 148,799,780	V514A	probably damaging	Het
Itfg2	T	C	6: 128,410,381	H422R	probably benign	Het
Lrp4	G	T	2: 91,506,059	L1738F	probably damaging	Het
Mettl17	A	G	14: 51,891,386	E371G	probably damaging	Het
Myh10	A	T	11: 68,790,112	E956V	probably damaging	Het
Ncoa1	A	T	12: 4,274,944	M1K	probably null	Het
Olfr1163	T	A	2: 88,071,227	N52Y	probably benign	Het
Olfr677	A	G	7: 105,056,945	D233G	probably benign	Het
Olfr709-ps1	A	C	7: 106,926,616	V281G	probably damaging	Het
Otop1	T	A	5: 38,277,701	C89S	probably benign	Het
Pitrm1	G	T	13: 6,573,145	R775L	probably benign	Het
Prpf19	A	G	19: 10,905,094	T512A	probably benign	Het
Prpf4b	T	A	13: 34,883,961	S258T	probably benign	Het
Rhbdl2	T	C	4: 123,822,837	Y196H	probably damaging	Het
Rnf187	T	C	11: 58,937,180	D148G	probably damaging	Het
Sbds	A	G	5: 130,250,941	I74T	probably damaging	Het
Sec63	T	C	10: 42,810,888	V468A	probably damaging	Het
Slc35b3	A	T	13: 38,955,782	M23K	probably damaging	Het
Slc6a9	A	T	4: 117,864,013	Y208F	probably benign	Het
Slfn8	A	T	11: 83,004,498	L494Q	probably damaging	Het
Sorcs1	T	G	19: 50,230,245	M600L	probably benign	Het
Supt7l	T	C	5: 31,515,678		probably null	Het
Tecrl	T	A	5: 83,354,792	Q70L	probably damaging	Het
Tedc2	A	T	17: 24,218,166		probably benign	Het
Tespa1	A	G	10: 130,355,484	D99G	probably damaging	Het
Tmem126b	G	T	7: 90,469,061	Q204K	probably damaging	Het
Tmem181c-ps	A	T	17: 6,620,367		noncoding transcript	Het
Tmem184a	G	T	5: 139,813,101	T31K	possibly damaging	Het
Tmprss11e	T	A	5: 86,719,801	I137F	possibly damaging	Het
Tmprss13	C	T	9: 45,336,105	T255I	probably damaging	Het
Top1mt	G	A	15: 75,665,706		probably benign	Het
Treh	C	T	9: 44,682,961	T168I	probably benign	Het
Ttn	A	T	2: 76,767,328	I11420N	probably benign	Het
Zp2	T	C	7: 120,132,418	K705E	possibly damaging	Het
Zw10	T	C	9: 49,068,754	I395T	probably damaging	Het

Other mutations in Mfsd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Mfsd6	APN	1	52708254	missense	probably damaging	1.00
IGL00820:Mfsd6	APN	1	52708306	missense	probably damaging	1.00
IGL01518:Mfsd6	APN	1	52709322	missense	probably damaging	1.00
IGL02517:Mfsd6	APN	1	52663277	splice site	probably benign
IGL02687:Mfsd6	APN	1	52708675	missense	probably damaging	0.99
IGL02887:Mfsd6	APN	1	52708878	missense	probably benign	0.19
IGL02901:Mfsd6	APN	1	52708473	missense	probably benign	0.07
IGL03030:Mfsd6	APN	1	52709703	start codon destroyed	probably null	1.00
PIT4280001:Mfsd6	UTSW	1	52660880	missense	probably benign	0.00
PIT4466001:Mfsd6	UTSW	1	52708897	missense	probably benign	0.03
R0043:Mfsd6	UTSW	1	52708652	nonsense	probably null
R0113:Mfsd6	UTSW	1	52709189	missense	probably damaging	1.00
R0226:Mfsd6	UTSW	1	52658690	intron	probably benign
R0302:Mfsd6	UTSW	1	52709457	missense	probably damaging	1.00
R0613:Mfsd6	UTSW	1	52658696	intron	probably benign
R1126:Mfsd6	UTSW	1	52709511	missense	probably benign	0.16
R1368:Mfsd6	UTSW	1	52708605	missense	possibly damaging	0.49
R1471:Mfsd6	UTSW	1	52709557	missense	probably benign	0.32
R1733:Mfsd6	UTSW	1	52709365	missense	probably damaging	1.00
R1768:Mfsd6	UTSW	1	52660805	critical splice donor site	probably null
R1951:Mfsd6	UTSW	1	52709358	missense	probably damaging	1.00
R2031:Mfsd6	UTSW	1	52708854	missense	probably benign	0.04
R2116:Mfsd6	UTSW	1	52660975	missense	probably benign	0.21
R2240:Mfsd6	UTSW	1	52660819	missense	probably damaging	0.97
R2242:Mfsd6	UTSW	1	52709598	missense	probably benign	0.03
R2303:Mfsd6	UTSW	1	52676513	missense	probably damaging	0.98
R2382:Mfsd6	UTSW	1	52708410	missense	probably benign	0.10
R4568:Mfsd6	UTSW	1	52663289	nonsense	probably null
R4801:Mfsd6	UTSW	1	52709596	missense	probably benign	0.08
R4802:Mfsd6	UTSW	1	52709596	missense	probably benign	0.08
R4958:Mfsd6	UTSW	1	52661024	missense	probably damaging	1.00
R5134:Mfsd6	UTSW	1	52708356	missense	possibly damaging	0.80
R5827:Mfsd6	UTSW	1	52662392	missense	probably damaging	1.00
R5844:Mfsd6	UTSW	1	52658383	missense	probably benign
R6124:Mfsd6	UTSW	1	52708252	missense	probably damaging	1.00
R6435:Mfsd6	UTSW	1	52709444	nonsense	probably null
R6515:Mfsd6	UTSW	1	52660961	missense	probably damaging	1.00
R6874:Mfsd6	UTSW	1	52660709	missense	probably benign	0.02
R6878:Mfsd6	UTSW	1	52708753	missense	probably damaging	0.98
R7111:Mfsd6	UTSW	1	52709758	splice site	probably null
R7170:Mfsd6	UTSW	1	52662388	critical splice donor site	probably null
R7242:Mfsd6	UTSW	1	52709474	missense	probably damaging	0.98
R7548:Mfsd6	UTSW	1	52663287	missense	possibly damaging	0.79
R7664:Mfsd6	UTSW	1	52709053	missense	probably benign	0.00
R7686:Mfsd6	UTSW	1	52662395	missense	probably benign	0.00
R7747:Mfsd6	UTSW	1	52676547	missense	probably benign	0.05
R7763:Mfsd6	UTSW	1	52708640	missense	probably benign
R8138:Mfsd6	UTSW	1	52709512	missense	probably benign
R8150:Mfsd6	UTSW	1	52708641	missense	probably benign	0.00
R8807:Mfsd6	UTSW	1	52658547	critical splice acceptor site	probably benign
R8938:Mfsd6	UTSW	1	52709295	missense	probably damaging	1.00
R9229:Mfsd6	UTSW	1	52708744	missense	probably damaging	1.00
R9276:Mfsd6	UTSW	1	52708355	nonsense	probably null
R9480:Mfsd6	UTSW	1	52660676	missense	unknown
Z1177:Mfsd6	UTSW	1	52658501	missense	probably benign

Posted On

2015-04-16