Mutagenetix > Incidental Mutation

Incidental Mutation 'R8776-TAIL:Mfsd9'

668052

Institutional Source

Beutler Lab

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 #

R8776-TAIL

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40811200-40829817 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 40812915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 467 (*467Q)

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 null
Transcript: ENSMUST00000039672
AA Change: *467Q

SMART Domains

Protein: ENSMUSP00000035727
Gene: ENSMUSG00000041945
AA Change: *467Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	A	G	2: 35,245,002 (GRCm39)	Y117H	probably benign	Het
a	A	G	2: 154,892,612 (GRCm39)	D97G	probably damaging	Het
Cdca7l	T	C	12: 117,836,098 (GRCm39)	S190P	probably damaging	Het
Chst9	T	A	18: 15,586,086 (GRCm39)	Y159F	possibly damaging	Het
Col26a1	G	A	5: 136,911,708 (GRCm39)	R52C	probably damaging	Het
Dchs2	A	T	3: 83,263,701 (GRCm39)	D3323V	possibly damaging	Het
Dqx1	T	A	6: 83,035,619 (GRCm39)	I44N	probably damaging	Het
Edc4	A	G	8: 106,613,992 (GRCm39)	D415G	probably damaging	Het
Enpp3	T	A	10: 24,650,733 (GRCm39)	D801V	probably damaging	Het
Fam13b	G	A	18: 34,584,446 (GRCm39)	R573C	probably damaging	Het
Fgfr2	A	T	7: 129,798,002 (GRCm39)	I415N	possibly damaging	Het
Gm32742	T	A	9: 51,067,230 (GRCm39)	M366L	probably benign	Het
Gm49336	A	T	14: 60,457,515 (GRCm39)	S563T	possibly damaging	Het
Gm5475	T	C	15: 100,324,892 (GRCm39)	F107L	unknown	Het
Lamp3	T	C	16: 19,474,252 (GRCm39)	D374G	probably damaging	Het
Lin9	T	C	1: 180,496,450 (GRCm39)		probably null	Het
Mef2d	T	C	3: 88,074,956 (GRCm39)	S381P	probably benign	Het
Mpo	A	G	11: 87,693,538 (GRCm39)	I639V	possibly damaging	Het
Mrgprh	T	C	17: 13,096,375 (GRCm39)	I205T	probably benign	Het
Ncapd2	T	C	6: 125,154,476 (GRCm39)	D580G	probably benign	Het
Nkain4	T	A	2: 180,585,920 (GRCm39)	I48F	probably damaging	Het
Notch4	C	A	17: 34,806,579 (GRCm39)	R1839S	probably damaging	Het
Nr6a1	A	G	2: 38,650,244 (GRCm39)	Y129H	probably damaging	Het
Or7g19	T	A	9: 18,856,286 (GRCm39)	I114N	possibly damaging	Het
Robo1	G	T	16: 72,821,141 (GRCm39)	E1294*	probably null	Het
Septin8	A	G	11: 53,428,343 (GRCm39)	K331R	probably benign	Het
Shmt2	A	G	10: 127,356,785 (GRCm39)		probably null	Het
Skint6	A	C	4: 112,661,885 (GRCm39)	L1233R	possibly damaging	Het
Slc41a3	A	T	6: 90,621,165 (GRCm39)	T402S	probably benign	Het
Slc9a2	A	G	1: 40,781,889 (GRCm39)	T373A	probably damaging	Het
Spata31d1b	T	C	13: 59,863,283 (GRCm39)	C144R	probably benign	Het
Syne1	A	G	10: 5,181,783 (GRCm39)	V4184A	possibly damaging	Het
Tenm4	G	A	7: 96,544,239 (GRCm39)	R2122H	probably damaging	Het
Tlnrd1	A	T	7: 83,532,316 (GRCm39)	D38E	probably benign	Het
Tnnc2	C	T	2: 164,620,135 (GRCm39)	A6T	probably benign	Het
Usp9y	A	G	Y: 1,356,320 (GRCm39)	V1127A	probably benign	Het
Ylpm1	T	C	12: 85,077,195 (GRCm39)	Y1307H	probably damaging	Het
Zfp266	T	C	9: 20,411,509 (GRCm39)	S223G	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
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
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

Posted On

2021-03-08