Mutagenetix > Incidental Mutation

Incidental Mutation 'R1644:Mfsd9'

173730

Institutional Source

Beutler Lab

Gene Symbol

Mfsd9

Ensembl Gene

ENSMUSG00000041945

Gene Name

major facilitator superfamily domain containing 9

Synonyms

4931419K03Rik

MMRRC Submission

039680-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R1644 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40811200-40829817 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40812958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 452 (R452S)

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: R452S

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

SMART Domains

Protein: ENSMUSP00000035727
Gene: ENSMUSG00000041945
AA Change: R452S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	C	T	1: 11,484,814 (GRCm39)	R8*	probably null	Het
Acacb	A	T	5: 114,333,346 (GRCm39)	H490L	probably damaging	Het
Ace	C	A	11: 105,875,932 (GRCm39)	H417N	probably damaging	Het
Adamtsl3	A	G	7: 82,099,298 (GRCm39)	N151D	possibly damaging	Het
Agap1	A	G	1: 89,591,452 (GRCm39)	N114S	probably damaging	Het
Arap3	A	T	18: 38,117,298 (GRCm39)	V926D	probably damaging	Het
Arhgap12	A	T	18: 6,112,340 (GRCm39)	I8N	probably benign	Het
Arhgef17	A	T	7: 100,578,711 (GRCm39)	F746I	probably damaging	Het
Atp6v0a1	T	C	11: 100,929,612 (GRCm39)	S471P	possibly damaging	Het
Bdp1	A	G	13: 100,197,448 (GRCm39)	V979A	probably benign	Het
Ccdc88c	C	A	12: 100,879,733 (GRCm39)	R1789L	probably damaging	Het
Cckar	A	T	5: 53,857,215 (GRCm39)	N327K	probably benign	Het
Cfap65	T	C	1: 74,956,334 (GRCm39)	T1082A	probably damaging	Het
Clcn7	T	A	17: 25,378,672 (GRCm39)	I719N	probably damaging	Het
Col27a1	C	G	4: 63,246,868 (GRCm39)		probably benign	Het
Cspp1	C	T	1: 10,196,663 (GRCm39)	T179I	probably damaging	Het
Dnah1	C	T	14: 31,024,249 (GRCm39)		probably benign	Het
Dnah6	A	G	6: 73,132,279 (GRCm39)	V1141A	probably benign	Het
Dusp4	A	G	8: 35,285,633 (GRCm39)	Y298C	probably damaging	Het
Efhc1	C	A	1: 21,037,625 (GRCm39)	Y267*	probably null	Het
Eif2s1	T	A	12: 78,913,295 (GRCm39)		probably null	Het
Epo	A	G	5: 137,481,417 (GRCm39)	V169A	possibly damaging	Het
Esr1	A	T	10: 4,951,380 (GRCm39)	Y586F	probably benign	Het
Fat2	T	C	11: 55,178,609 (GRCm39)	T1484A	possibly damaging	Het
Fat2	T	C	11: 55,187,007 (GRCm39)	T1280A	possibly damaging	Het
Gm5828	T	C	1: 16,839,485 (GRCm39)		noncoding transcript	Het
Idh3b	T	C	2: 130,123,430 (GRCm39)	I187V	possibly damaging	Het
Kif13a	A	C	13: 46,947,398 (GRCm39)	V862G	probably benign	Het
Kndc1	A	G	7: 139,510,669 (GRCm39)	D1327G	probably damaging	Het
Myh15	C	T	16: 48,952,566 (GRCm39)	R879C	probably benign	Het
Naip2	T	C	13: 100,319,437 (GRCm39)	R260G	possibly damaging	Het
Npat	T	G	9: 53,481,472 (GRCm39)	L1060R	probably damaging	Het
Or2aj4	T	A	16: 19,385,156 (GRCm39)	H159L	probably benign	Het
Or4c126	A	T	2: 89,824,297 (GRCm39)	T187S	possibly damaging	Het
Or4c15	A	T	2: 88,759,731 (GRCm39)	D309E	probably benign	Het
Or52n2b	A	C	7: 104,566,015 (GRCm39)	F163V	probably benign	Het
Or6f2	T	C	7: 139,756,561 (GRCm39)	V176A	probably benign	Het
Pld5	T	C	1: 175,803,192 (GRCm39)	T296A	possibly damaging	Het
Polq	C	T	16: 36,880,626 (GRCm39)	A651V	probably damaging	Het
Polr3a	G	A	14: 24,520,692 (GRCm39)	P607S	probably damaging	Het
Ranbp9	G	A	13: 43,566,015 (GRCm39)	R424C	probably damaging	Het
Rsl1	G	A	13: 67,325,229 (GRCm39)		probably benign	Het
Sema4c	A	G	1: 36,589,885 (GRCm39)	S490P	probably damaging	Het
Setd3	A	T	12: 108,079,603 (GRCm39)	L300Q	possibly damaging	Het
Slc15a3	T	C	19: 10,834,595 (GRCm39)	I492T	possibly damaging	Het
Stag1	T	C	9: 100,762,953 (GRCm39)		probably benign	Het
Tgm4	A	G	9: 122,880,481 (GRCm39)	Y294C	probably damaging	Het
Tm9sf1	A	G	14: 55,878,757 (GRCm39)	S212P	probably benign	Het
Tmcc1	A	G	6: 116,110,826 (GRCm39)	S156P	probably damaging	Het
Vmn1r184	A	C	7: 25,966,670 (GRCm39)	M139L	probably benign	Het
Vmn1r209	A	C	13: 22,990,652 (GRCm39)	F13V	possibly damaging	Het
Xkr5	T	C	8: 18,984,141 (GRCm39)	E467G	probably benign	Het
Zdbf2	C	T	1: 63,348,131 (GRCm39)	S2170L	possibly damaging	Het
Zfp277	G	T	12: 40,379,609 (GRCm39)		probably null	Het
Zfp62	T	C	11: 49,106,596 (GRCm39)	I229T	probably damaging	Het
Zfp810	A	G	9: 22,190,324 (GRCm39)	S195P	possibly damaging	Het
Zfp94	G	A	7: 24,010,927 (GRCm39)		probably benign	Het

Other mutations in Mfsd9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00946:Mfsd9	APN	1	40,812,940 (GRCm39)	missense	probably benign	0.22
IGL01453:Mfsd9	APN	1	40,829,638 (GRCm39)	splice site	probably benign
R0631:Mfsd9	UTSW	1	40,829,634 (GRCm39)	splice site	probably benign
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

Predicted Primers

PCR Primer
(F):5'- CTAAACTTCCCTATCTGCGGCTGAC -3'
(R):5'- ACCATTGGGAGAACCTGCATCAC -3'

Sequencing Primer
(F):5'- ATCTGCGGCTGACTTCTG -3'
(R):5'- TGCATCACGGACCTCCAG -3'

Posted On

2014-04-24