Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00946:Mfsd9'

26678

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mfsd9

Ensembl Gene

ENSMUSG00000041945

Gene Name

major facilitator superfamily domain containing 9

Synonyms

4931419K03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL00946

Quality Score

Status

Chromosome

Chromosomal Location

40811200-40829817 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 40812940 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 458 (D458E)

Ref Sequence

ENSEMBL: ENSMUSP00000035727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027231] [ENSMUST00000039672] [ENSMUST00000131390]

AlphaFold

Q8C0T7

Predicted Effect

probably benign
Transcript: ENSMUST00000027231

SMART Domains

Protein: ENSMUSP00000027231
Gene: ENSMUSG00000026062

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
low complexity region	40	60	N/A	INTRINSIC
Pfam:Na_H_Exchanger	85	486	1.4e-95	PFAM
low complexity region	528	543	N/A	INTRINSIC
Pfam:NEXCaM_BD	576	685	3e-44	PFAM
low complexity region	738	753	N/A	INTRINSIC
low complexity region	788	793	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000039672
AA Change: D458E

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

SMART Domains

Protein: ENSMUSP00000035727
Gene: ENSMUSG00000041945
AA Change: D458E

Domain	Start	End	E-Value	Type
low complexity region	16	32	N/A	INTRINSIC
Pfam:Sugar_tr	39	301	4.7e-8	PFAM
Pfam:MFS_1	39	419	1.8e-42	PFAM
low complexity region	436	447	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131390

SMART Domains

Protein: ENSMUSP00000137884
Gene: ENSMUSG00000041945

Domain	Start	End	E-Value	Type
low complexity region	16	32	N/A	INTRINSIC
low complexity region	36	46	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195134

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	T	C	4: 132,790,373 (GRCm39)	I538T	probably benign	Het
Bmp10	A	T	6: 87,411,344 (GRCm39)	Q379L	probably damaging	Het
Cacna2d4	G	A	6: 119,248,876 (GRCm39)	A446T	possibly damaging	Het
Chrdl1	G	A	X: 142,077,164 (GRCm39)		probably benign	Het
Crtc2	A	G	3: 90,168,112 (GRCm39)	H370R	probably damaging	Het
Cubn	T	C	2: 13,461,434 (GRCm39)	T698A	probably damaging	Het
Deup1	T	C	9: 15,472,534 (GRCm39)	T593A	possibly damaging	Het
Dus1l	T	C	11: 120,684,701 (GRCm39)	T157A	probably damaging	Het
Efcab6	T	C	15: 83,902,897 (GRCm39)	N151S	probably benign	Het
Eif2b5	T	A	16: 20,324,002 (GRCm39)	H448Q	probably benign	Het
Epha8	T	C	4: 136,673,121 (GRCm39)	D221G	probably damaging	Het
Eprs1	G	A	1: 185,139,898 (GRCm39)	G996S	probably benign	Het
Fn1	G	A	1: 71,684,699 (GRCm39)		probably benign	Het
Gfpt1	A	G	6: 87,027,924 (GRCm39)	Y10C	probably damaging	Het
Ghitm	C	T	14: 36,847,203 (GRCm39)	M290I	probably benign	Het
Gpd2	T	C	2: 57,158,096 (GRCm39)		probably null	Het
Htr2a	T	A	14: 74,943,582 (GRCm39)	Y387*	probably null	Het
Lrrc7	T	A	3: 157,866,993 (GRCm39)	Q916L	probably benign	Het
Nmb	T	C	7: 80,552,208 (GRCm39)	I123M	probably benign	Het
Nrap	A	T	19: 56,329,058 (GRCm39)		probably null	Het
Or10j7	A	T	1: 173,011,190 (GRCm39)	D270E	probably benign	Het
Or4d5	A	G	9: 40,012,450 (GRCm39)	I112T	probably benign	Het
Or4k49	T	A	2: 111,495,489 (GRCm39)	M306K	probably benign	Het
Pola1	T	C	X: 92,524,145 (GRCm39)	I1165M	probably benign	Het
Sdk1	G	T	5: 142,070,368 (GRCm39)		probably null	Het
Selenon	T	A	4: 134,267,037 (GRCm39)		probably benign	Het
Stk39	T	A	2: 68,144,908 (GRCm39)	T389S	possibly damaging	Het
Tmx3	A	G	18: 90,558,178 (GRCm39)	E410G	possibly damaging	Het
Utp20	A	T	10: 88,584,177 (GRCm39)	V2660E	possibly damaging	Het
Vps52	T	C	17: 34,175,932 (GRCm39)	L40P	possibly damaging	Het
Wdr25	C	T	12: 108,990,953 (GRCm39)	S380F	possibly damaging	Het
Xpo7	T	C	14: 70,909,098 (GRCm39)	T808A	probably benign	Het
Zc3h14	T	C	12: 98,726,142 (GRCm39)		probably benign	Het

Other mutations in Mfsd9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01453:Mfsd9	APN	1	40,829,638 (GRCm39)	splice site	probably benign
R0631:Mfsd9	UTSW	1	40,829,634 (GRCm39)	splice site	probably benign
R1644:Mfsd9	UTSW	1	40,812,958 (GRCm39)	missense	probably benign	0.39
R4204:Mfsd9	UTSW	1	40,820,670 (GRCm39)	missense	probably damaging	1.00
R4761:Mfsd9	UTSW	1	40,813,635 (GRCm39)	missense	possibly damaging	0.61
R4777:Mfsd9	UTSW	1	40,820,700 (GRCm39)	missense	possibly damaging	0.64
R5109:Mfsd9	UTSW	1	40,813,365 (GRCm39)	missense	probably damaging	0.98
R6712:Mfsd9	UTSW	1	40,825,601 (GRCm39)	splice site	probably null
R8776:Mfsd9	UTSW	1	40,812,915 (GRCm39)	makesense	probably null
R8776-TAIL:Mfsd9	UTSW	1	40,812,915 (GRCm39)	makesense	probably null
R8839:Mfsd9	UTSW	1	40,813,554 (GRCm39)	missense	probably benign
R9411:Mfsd9	UTSW	1	40,829,692 (GRCm39)	missense	probably damaging	0.98
R9478:Mfsd9	UTSW	1	40,812,941 (GRCm39)	missense	probably benign	0.00
R9499:Mfsd9	UTSW	1	40,813,152 (GRCm39)	missense	probably damaging	0.96
R9551:Mfsd9	UTSW	1	40,813,152 (GRCm39)	missense	probably damaging	0.96

Posted On

2013-04-17