Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00704:Mfsd11'

11980

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: 0.128) question?

Stock #

IGL00704

Quality Score

Status

Chromosome

Chromosomal Location

116743266-116766461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116749322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 59 (F59L)

Ref Sequence

ENSEMBL: ENSMUSP00000123368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021173] [ENSMUST00000106363] [ENSMUST00000106365] [ENSMUST00000136012] [ENSMUST00000153084] [ENSMUST00000139954] [ENSMUST00000143184]

AlphaFold

Q8BJ51

Predicted Effect

probably benign
Transcript: ENSMUST00000021173
AA Change: F59L

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000021173
Gene: ENSMUSG00000020818
AA Change: F59L

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
AA Change: F59L

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101971
Gene: ENSMUSG00000020818
AA Change: F59L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106365
AA Change: F59L

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101973
Gene: ENSMUSG00000020818
AA Change: F59L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125920

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126661

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135135

Predicted Effect

probably benign
Transcript: ENSMUST00000136012
AA Change: F59L

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000118203
Gene: ENSMUSG00000020818
AA Change: F59L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153084
AA Change: F59L

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000123368
Gene: ENSMUSG00000020818
AA Change: F59L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000139954
AA Change: F59L

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000118112
Gene: ENSMUSG00000020818
AA Change: F59L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151944

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147404

Predicted Effect

probably benign
Transcript: ENSMUST00000143184

SMART Domains

Protein: ENSMUSP00000119131
Gene: ENSMUSG00000090266

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_16	1	82	1e-9	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	T	5: 8,736,257 (GRCm39)	I217F	probably benign	Het
Agfg1	C	T	1: 82,836,124 (GRCm39)	T3I	probably damaging	Het
Anapc1	A	T	2: 128,505,904 (GRCm39)	V644E	possibly damaging	Het
Casd1	A	T	6: 4,607,979 (GRCm39)		probably benign	Het
Chd1	T	C	17: 15,952,827 (GRCm39)	V369A	probably benign	Het
Cul2	T	C	18: 3,423,487 (GRCm39)	V299A	probably benign	Het
Helz2	A	G	2: 180,876,178 (GRCm39)	C1439R	probably damaging	Het
Nlrp4e	A	T	7: 23,042,565 (GRCm39)	D817V	probably damaging	Het
Phf3	C	T	1: 30,843,919 (GRCm39)	G1680D	probably benign	Het
Pip4k2a	G	T	2: 18,877,147 (GRCm39)	T196K	probably benign	Het
Plxna2	T	A	1: 194,433,769 (GRCm39)	V606E	probably damaging	Het
Slc4a2	A	C	5: 24,644,066 (GRCm39)	I931L	probably damaging	Het
Stk32a	T	C	18: 43,394,314 (GRCm39)	Y88H	probably damaging	Het
Uba2	T	C	7: 33,858,294 (GRCm39)	N54S	probably damaging	Het

Other mutations in Mfsd11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02582:Mfsd11	APN	11	116,764,701 (GRCm39)	missense	probably damaging	0.99
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

2012-12-06