Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02794:Mfsd11'

359864

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 #

IGL02794

Quality Score

Status

Chromosome

Chromosomal Location

116743266-116766461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116750177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 105 (S105T)

Ref Sequence

ENSEMBL: ENSMUSP00000123368 (fasta)

Gene Model

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

AlphaFold

Q8BJ51

Predicted Effect

probably damaging
Transcript: ENSMUST00000021173
AA Change: S105T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021173
Gene: ENSMUSG00000020818
AA Change: S105T

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

possibly damaging
Transcript: ENSMUST00000106363
AA Change: I88N

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101971
Gene: ENSMUSG00000020818
AA Change: I88N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106365
AA Change: H96Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000101973
Gene: ENSMUSG00000020818
AA Change: H96Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125920

Predicted Effect

probably benign
Transcript: ENSMUST00000136012
AA Change: H96Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000118203
Gene: ENSMUSG00000020818
AA Change: H96Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000139954
AA Change: H96Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000118112
Gene: ENSMUSG00000020818
AA Change: H96Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147404

Predicted Effect

probably damaging
Transcript: ENSMUST00000153084
AA Change: S105T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123368
Gene: ENSMUSG00000020818
AA Change: S105T

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

noncoding transcript
Transcript: ENSMUST00000151944

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,621,385 (GRCm39)	C1082S	probably benign	Het
Akt2	G	T	7: 27,328,806 (GRCm39)	R176L	probably benign	Het
Aldh16a1	A	G	7: 44,795,018 (GRCm39)	Y484H	probably damaging	Het
Apeh	A	G	9: 107,969,209 (GRCm39)	S280P	possibly damaging	Het
Atp1a4	T	C	1: 172,071,653 (GRCm39)	M481V	probably benign	Het
Atraid	G	A	5: 31,210,214 (GRCm39)	S135N	probably damaging	Het
Camta2	C	T	11: 70,566,484 (GRCm39)	G677D	possibly damaging	Het
Ccdc18	A	G	5: 108,319,614 (GRCm39)	N545S	probably benign	Het
Cic	A	G	7: 24,985,069 (GRCm39)	D1105G	probably damaging	Het
Crisp1	A	T	17: 40,623,957 (GRCm39)	M4K	unknown	Het
Crnkl1	C	T	2: 145,772,532 (GRCm39)	E182K	possibly damaging	Het
Dnmt1	A	T	9: 20,847,847 (GRCm39)	C114S	probably benign	Het
Dsc2	A	T	18: 20,174,788 (GRCm39)	Y496N	probably damaging	Het
Dst	T	C	1: 34,309,910 (GRCm39)	V1528A	probably damaging	Het
Fbxl8	C	T	8: 105,994,752 (GRCm39)	T88M	probably benign	Het
Fbxo10	T	C	4: 45,041,928 (GRCm39)	N767S	probably benign	Het
Gm1527	A	G	3: 28,949,829 (GRCm39)	T30A	unknown	Het
Gorasp2	C	A	2: 70,509,838 (GRCm39)	Y166*	probably null	Het
Gucy2c	T	A	6: 136,690,146 (GRCm39)	Q744L	probably damaging	Het
Heg1	A	T	16: 33,546,992 (GRCm39)	N593I	probably damaging	Het
Ice1	T	A	13: 70,757,278 (GRCm39)	S236C	possibly damaging	Het
Il12b	T	C	11: 44,298,808 (GRCm39)	Y88H	probably damaging	Het
Izumo3	C	T	4: 92,035,200 (GRCm39)	V6I	probably benign	Het
Kcna6	A	G	6: 126,715,515 (GRCm39)	V458A	probably damaging	Het
Kif13b	G	A	14: 65,040,889 (GRCm39)	R1659Q	probably benign	Het
Klk1b1	A	G	7: 43,619,789 (GRCm39)	D116G	possibly damaging	Het
Lama2	T	C	10: 26,917,227 (GRCm39)	T2233A	possibly damaging	Het
Lin9	A	T	1: 180,479,444 (GRCm39)	K59N	probably damaging	Het
Ltbp2	T	C	12: 84,838,709 (GRCm39)	E1083G	probably damaging	Het
Mga	T	A	2: 119,776,770 (GRCm39)	I1768N	possibly damaging	Het
Mical3	C	A	6: 120,984,270 (GRCm39)	G202V	probably damaging	Het
Mylk	A	T	16: 34,806,911 (GRCm39)	I1719F	probably benign	Het
Nusap1	T	A	2: 119,460,867 (GRCm39)	F120Y	possibly damaging	Het
Or52e8	T	A	7: 104,624,596 (GRCm39)	M203L	probably benign	Het
Or8b56	T	A	9: 38,739,511 (GRCm39)	C175S	probably damaging	Het
Or8k32	T	C	2: 86,368,492 (GRCm39)	T256A	possibly damaging	Het
Pidd1	T	C	7: 141,023,021 (GRCm39)	Y57C	probably benign	Het
Pik3cd	T	A	4: 149,739,028 (GRCm39)	M671L	probably benign	Het
Ppp5c	A	G	7: 16,740,885 (GRCm39)	V361A	probably benign	Het
Prune2	T	C	19: 17,096,725 (GRCm39)	V743A	probably benign	Het
Siglec1	C	A	2: 130,917,889 (GRCm39)	S996I	possibly damaging	Het
Slc12a7	A	G	13: 73,957,206 (GRCm39)	R948G	possibly damaging	Het
Slc40a1	A	T	1: 45,948,668 (GRCm39)	Y537*	probably null	Het
Smarca4	T	A	9: 21,584,638 (GRCm39)		probably benign	Het
Smg6	C	T	11: 74,944,760 (GRCm39)	P1109S	probably damaging	Het
Sorl1	T	A	9: 41,975,070 (GRCm39)	N513Y	probably damaging	Het
Trim58	C	T	11: 58,531,292 (GRCm39)		probably benign	Het
Trim72	T	C	7: 127,603,704 (GRCm39)	C17R	probably damaging	Het
Ttc3	T	C	16: 94,268,785 (GRCm39)	C1956R	probably damaging	Het
Vmn1r211	G	T	13: 23,036,379 (GRCm39)	T96N	possibly damaging	Het
Vmn1r211	C	A	13: 23,036,376 (GRCm39)	S97I	probably damaging	Het
Vmn1r211	T	A	13: 23,036,377 (GRCm39)	S97C	probably damaging	Het
Vmn2r66	A	T	7: 84,644,623 (GRCm39)	S596T	probably benign	Het
Zfp609	A	G	9: 65,611,602 (GRCm39)	S454P	possibly damaging	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
IGL02582:Mfsd11	APN	11	116,764,701 (GRCm39)	missense	probably damaging	0.99
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

2015-12-18