Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02582:Mfsd11'

299391

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mfsd11

Ensembl Gene

ENSMUSG00000020818

Gene Name

major facilitator superfamily domain containing 11

Synonyms

2600014M03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

IGL02582

Quality Score

Status

Chromosome

Chromosomal Location

116743266-116766461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116764701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 375 (I375N)

Ref Sequence

ENSEMBL: ENSMUSP00000123368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021173] [ENSMUST00000106363] [ENSMUST00000106365] [ENSMUST00000136012] [ENSMUST00000139954] [ENSMUST00000153084]

AlphaFold

Q8BJ51

Predicted Effect

probably benign
Transcript: ENSMUST00000021173
AA Change: I427N

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000021173
Gene: ENSMUSG00000020818
AA Change: I427N

Domain	Start	End	E-Value	Type
Pfam:UNC-93	14	166	6.5e-56	PFAM
transmembrane domain	173	190	N/A	INTRINSIC
transmembrane domain	239	261	N/A	INTRINSIC
transmembrane domain	276	298	N/A	INTRINSIC
transmembrane domain	305	327	N/A	INTRINSIC
transmembrane domain	410	432	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106363

SMART Domains

Protein: ENSMUSP00000101971
Gene: ENSMUSG00000020818

Domain	Start	End	E-Value	Type
Pfam:UNC-93	14	92	6e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106365

SMART Domains

Protein: ENSMUSP00000101973
Gene: ENSMUSG00000020818

Domain	Start	End	E-Value	Type
Pfam:UNC-93	14	91	7.9e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134106

Predicted Effect

probably benign
Transcript: ENSMUST00000136012

SMART Domains

Protein: ENSMUSP00000118203
Gene: ENSMUSG00000020818

Domain	Start	End	E-Value	Type
Pfam:UNC-93	14	91	7.9e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139954

SMART Domains

Protein: ENSMUSP00000118112
Gene: ENSMUSG00000020818

Domain	Start	End	E-Value	Type
Pfam:UNC-93	14	91	7.9e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000153084
AA Change: I375N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123368
Gene: ENSMUSG00000020818
AA Change: I375N

Domain	Start	End	E-Value	Type
Pfam:UNC-93	14	115	7.4e-33	PFAM
transmembrane domain	119	138	N/A	INTRINSIC
transmembrane domain	187	209	N/A	INTRINSIC
transmembrane domain	224	246	N/A	INTRINSIC
transmembrane domain	253	275	N/A	INTRINSIC
transmembrane domain	358	380	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	T	A	9: 53,506,045 (GRCm39)	I92F	probably benign	Het
Actr3b	A	G	5: 26,037,411 (GRCm39)	I208V	probably benign	Het
Car12	T	C	9: 66,621,159 (GRCm39)	V10A	probably benign	Het
Ccdc171	C	A	4: 83,661,255 (GRCm39)	R1122S	probably damaging	Het
Cep97	A	G	16: 55,742,539 (GRCm39)	V136A	probably damaging	Het
Cilp2	G	T	8: 70,333,936 (GRCm39)	Q1021K	probably damaging	Het
Col24a1	C	A	3: 145,020,247 (GRCm39)	T206N	probably damaging	Het
Crebbp	A	T	16: 3,902,141 (GRCm39)	I2328K	possibly damaging	Het
Ctns	A	G	11: 73,087,478 (GRCm39)	F16S	probably benign	Het
Dbf4	T	C	5: 8,453,172 (GRCm39)	K276E	probably benign	Het
Dnase2b	T	A	3: 146,294,840 (GRCm39)	Q118L	probably benign	Het
Elf1	T	C	14: 79,773,819 (GRCm39)	L10P	probably damaging	Het
Exosc5	T	C	7: 25,364,988 (GRCm39)		probably null	Het
Fam163b	C	T	2: 27,003,570 (GRCm39)	C28Y	probably damaging	Het
Fam180a	G	T	6: 35,290,647 (GRCm39)	A112E	possibly damaging	Het
Fam3b	A	T	16: 97,272,391 (GRCm39)	Y89*	probably null	Het
Gcg	C	T	2: 62,308,922 (GRCm39)	W77*	probably null	Het
Gm17472	G	A	6: 42,957,832 (GRCm39)	V34I	possibly damaging	Het
Klhl23	T	A	2: 69,654,582 (GRCm39)	C151S	probably damaging	Het
Mdh1b	T	A	1: 63,758,756 (GRCm39)	I279F	probably benign	Het
Mroh2b	T	A	15: 4,937,997 (GRCm39)	I206N	probably damaging	Het
Myo1b	T	C	1: 51,821,133 (GRCm39)	E456G	possibly damaging	Het
Nat8	G	A	6: 85,807,783 (GRCm39)	Q117*	probably null	Het
Nlrp4g	A	C	9: 124,349,764 (GRCm38)		noncoding transcript	Het
Nmt1	G	T	11: 102,955,625 (GRCm39)	G468C	possibly damaging	Het
Nobox	G	T	6: 43,281,973 (GRCm39)	Q367K	possibly damaging	Het
Nusap1	A	G	2: 119,479,470 (GRCm39)	*428W	probably null	Het
Or12j4	T	C	7: 140,046,560 (GRCm39)	F149L	probably benign	Het
Or4c126	G	A	2: 89,824,656 (GRCm39)	M306I	probably benign	Het
Pbp2	T	C	6: 135,287,147 (GRCm39)	I67V	probably benign	Het
Pcdhb8	T	G	18: 37,488,427 (GRCm39)	M35R	possibly damaging	Het
Pkp1	T	C	1: 135,817,664 (GRCm39)	E157G	probably damaging	Het
Pomgnt1	C	T	4: 116,015,747 (GRCm39)	L560F	probably damaging	Het
Prkcz	T	C	4: 155,355,713 (GRCm39)	T227A	probably damaging	Het
Ptprd	T	A	4: 75,865,361 (GRCm39)	R1446S	probably damaging	Het
Ptprq	T	C	10: 107,479,860 (GRCm39)	T1137A	probably benign	Het
Sec22c	T	C	9: 121,514,630 (GRCm39)	I153V	probably benign	Het
Slc30a5	C	T	13: 100,949,155 (GRCm39)		probably null	Het
Smcr8	T	C	11: 60,669,721 (GRCm39)	S290P	probably benign	Het
Stambpl1	T	G	19: 34,212,612 (GRCm39)	L261V	probably benign	Het
Stk38l	T	C	6: 146,668,321 (GRCm39)		probably null	Het
Themis	T	C	10: 28,637,543 (GRCm39)	F216L	probably benign	Het
Trmt1l	T	C	1: 151,309,536 (GRCm39)		probably benign	Het
Usp17lb	C	A	7: 104,489,937 (GRCm39)	C330F	probably damaging	Het
Vmn2r120	A	T	17: 57,831,724 (GRCm39)	L355H	probably damaging	Het
Zc3h7b	T	A	15: 81,653,341 (GRCm39)	C82S	probably benign	Het

Other mutations in Mfsd11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Mfsd11	APN	11	116,749,322 (GRCm39)	missense	probably benign	0.39
IGL00809:Mfsd11	APN	11	116,750,177 (GRCm39)	missense	probably damaging	0.97
IGL01999:Mfsd11	APN	11	116,752,411 (GRCm39)	missense	probably damaging	0.99
IGL02182:Mfsd11	APN	11	116,764,740 (GRCm39)	missense	possibly damaging	0.50
IGL02794:Mfsd11	APN	11	116,750,177 (GRCm39)	missense	probably damaging	0.97
R0416:Mfsd11	UTSW	11	116,756,708 (GRCm39)	splice site	probably benign
R1229:Mfsd11	UTSW	11	116,764,123 (GRCm39)	missense	probably damaging	1.00
R1397:Mfsd11	UTSW	11	116,764,123 (GRCm39)	missense	probably damaging	1.00
R1929:Mfsd11	UTSW	11	116,764,740 (GRCm39)	missense	probably benign	0.00
R2081:Mfsd11	UTSW	11	116,752,381 (GRCm39)	missense	possibly damaging	0.92
R4554:Mfsd11	UTSW	11	116,752,406 (GRCm39)	missense	probably damaging	0.97
R5888:Mfsd11	UTSW	11	116,762,210 (GRCm39)	missense	probably damaging	1.00
R6959:Mfsd11	UTSW	11	116,752,495 (GRCm39)	critical splice donor site	probably null
R7807:Mfsd11	UTSW	11	116,754,733 (GRCm39)	missense	probably benign
R7990:Mfsd11	UTSW	11	116,750,323 (GRCm39)	missense	possibly damaging	0.84
R8073:Mfsd11	UTSW	11	116,754,749 (GRCm39)	missense	probably benign
R8692:Mfsd11	UTSW	11	116,752,443 (GRCm39)	missense	probably benign
R8851:Mfsd11	UTSW	11	116,752,479 (GRCm39)	missense	probably benign
R8887:Mfsd11	UTSW	11	116,745,526 (GRCm39)	critical splice donor site	probably null
R8954:Mfsd11	UTSW	11	116,750,162 (GRCm39)	missense	probably damaging	0.98
R9151:Mfsd11	UTSW	11	116,750,323 (GRCm39)	missense
R9318:Mfsd11	UTSW	11	116,750,398 (GRCm39)	missense	probably damaging	1.00
R9389:Mfsd11	UTSW	11	116,764,161 (GRCm39)	missense	probably benign
X0018:Mfsd11	UTSW	11	116,744,911 (GRCm39)	missense	probably benign	0.21
Z1176:Mfsd11	UTSW	11	116,754,766 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16