Mutagenetix > Incidental Mutation

Incidental Mutation 'R4713:Mfsd7a'

353357

Institutional Source

Beutler Lab

Gene Symbol

Mfsd7a

Ensembl Gene

ENSMUSG00000029490

Gene Name

major facilitator superfamily domain containing 7A

Synonyms

Mfsd7, 4732482E20Rik

MMRRC Submission

041601-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R4713 (G1)

Quality Score

221

Status

Not validated

Chromosome

Chromosomal Location

108441054-108448891 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108442079 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 486 (T486A)

Ref Sequence

ENSEMBL: ENSMUSP00000031455 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031455]

AlphaFold

Q8CE47

Predicted Effect

probably damaging
Transcript: ENSMUST00000031455
AA Change: T486A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031455
Gene: ENSMUSG00000029490
AA Change: T486A

Domain	Start	End	E-Value	Type
Pfam:MFS_1	36	396	8.9e-23	PFAM
transmembrane domain	423	445	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	G	T	1: 25,547,532	T360K	probably damaging	Het
AW551984	T	C	9: 39,597,153	K356E	probably benign	Het
Bpifb2	T	A	2: 153,881,193	V123E	probably damaging	Het
Cacna1a	T	G	8: 84,549,514	F532V	probably damaging	Het
Cct8	C	A	16: 87,487,688	E204*	probably null	Het
Cd163	T	A	6: 124,317,618		probably null	Het
Cep152	C	A	2: 125,587,948	A685S	possibly damaging	Het
Chdh	A	G	14: 30,036,841	D581G	probably benign	Het
Cnpy3	A	C	17: 46,747,465	Y77*	probably null	Het
Col5a3	T	C	9: 20,793,574	E762G	unknown	Het
Creb3	A	G	4: 43,563,247	T115A	probably benign	Het
Dlat	G	T	9: 50,644,481	A412E	probably benign	Het
Dnah2	T	C	11: 69,476,688	N1789S	probably damaging	Het
Dzank1	C	T	2: 144,491,804	E370K	probably benign	Het
Eif3m	A	T	2: 105,006,839		probably null	Het
Gimap8	A	T	6: 48,658,986	M562L	probably benign	Het
Gm15448	G	T	7: 3,822,681	Y396*	probably null	Het
Gprc6a	T	A	10: 51,631,457		probably benign	Het
Gsr	T	G	8: 33,680,319		probably null	Het
Gstcd	A	G	3: 132,983,099	V630A	probably damaging	Het
Hip1r	T	C	5: 123,989,980	I116T	probably benign	Het
Hivep3	A	G	4: 120,131,803	E1817G	probably damaging	Het
Inpp5f	A	C	7: 128,663,725	T135P	probably damaging	Het
Ism2	A	G	12: 87,285,027		silent	Het
Itga11	A	G	9: 62,765,788	D784G	probably damaging	Het
Itpr2	A	G	6: 146,373,173	F837S	probably damaging	Het
Itpr2	T	C	6: 146,396,958	E10G	probably damaging	Het
Knl1	A	T	2: 119,069,137	K440*	probably null	Het
Lonp2	T	C	8: 86,713,315	S648P	probably damaging	Het
Lrba	T	C	3: 86,359,868	S1622P	probably benign	Het
Lrp2	G	T	2: 69,487,966	A2047D	probably damaging	Het
Mcm3	G	A	1: 20,803,577	T773I	probably benign	Het
Mki67	A	G	7: 135,695,469	V2612A	probably benign	Het
Mnx1	C	A	5: 29,478,131	G49W	probably damaging	Het
Muc5b	T	A	7: 141,849,079	Y673*	probably null	Het
Myo15	A	G	11: 60,479,930	H1172R	probably benign	Het
Myo1g	T	C	11: 6,516,080	K363R	probably null	Het
Ncoa4	T	A	14: 32,176,641	C473S	probably benign	Het
Nefh	T	C	11: 4,939,656	T988A	unknown	Het
Nwd2	T	A	5: 63,804,460	D462E	probably benign	Het
Olfr332	T	C	11: 58,490,087	T223A	probably benign	Het
Plec	T	C	15: 76,181,067	E1466G	unknown	Het
Prl3d2	G	T	13: 27,122,396	M35I	probably benign	Het
Reln	T	A	5: 22,152,463	I202F	probably benign	Het
Rhot1	T	A	11: 80,225,602	D78E	probably benign	Het
Rsph3b	T	C	17: 6,905,129		probably null	Het
Scn10a	C	T	9: 119,609,651	M1717I	probably damaging	Het
Sema6a	T	A	18: 47,249,296	H728L	possibly damaging	Het
Slc26a3	G	T	12: 31,457,080	A345S	possibly damaging	Het
Slc35d2	A	G	13: 64,099,283	V261A	possibly damaging	Het
Ssmem1	A	G	6: 30,519,514	D66G	probably damaging	Het
Sult2a8	A	T	7: 14,425,477	N72K	probably benign	Het
Tbx10	T	C	19: 3,996,921	L108P	probably damaging	Het
Tex14	T	C	11: 87,536,865	S48P	probably damaging	Het
Tmie	A	G	9: 110,867,528	L95P	probably damaging	Het
Tom1l2	C	G	11: 60,270,433	R84P	probably damaging	Het
Trpm3	T	A	19: 22,889,435	D543E	possibly damaging	Het
Vipr2	A	C	12: 116,080,131	R49S	probably benign	Het
Vps8	A	T	16: 21,442,439	S110C	probably damaging	Het
Zfp791	T	A	8: 85,110,968	N89I	probably damaging	Het

Other mutations in Mfsd7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01125:Mfsd7a	APN	5	108444592	splice site	probably benign
R0239:Mfsd7a	UTSW	5	108444016	splice site	probably benign
R0551:Mfsd7a	UTSW	5	108444465	splice site	probably benign
R2086:Mfsd7a	UTSW	5	108445621	missense	probably damaging	1.00
R2240:Mfsd7a	UTSW	5	108444707	missense	probably benign	0.04
R4663:Mfsd7a	UTSW	5	108442145	missense	probably benign	0.01
R5560:Mfsd7a	UTSW	5	108448863	start codon destroyed	probably null	0.01
R5950:Mfsd7a	UTSW	5	108445485	missense	probably damaging	0.98
R6618:Mfsd7a	UTSW	5	108443098	missense	probably benign	0.16
R7107:Mfsd7a	UTSW	5	108448715	splice site	probably null
R7273:Mfsd7a	UTSW	5	108441991	missense	probably benign
R7369:Mfsd7a	UTSW	5	108445528	missense	probably benign	0.09
R7384:Mfsd7a	UTSW	5	108446060	missense	probably damaging	0.96
R7502:Mfsd7a	UTSW	5	108443780	splice site	probably null
R7585:Mfsd7a	UTSW	5	108448819	missense	probably benign
R7863:Mfsd7a	UTSW	5	108445534	missense	probably damaging	1.00
R7908:Mfsd7a	UTSW	5	108444497	missense	probably benign	0.09
R8909:Mfsd7a	UTSW	5	108444566	missense	probably benign	0.00
R8976:Mfsd7a	UTSW	5	108442031	missense	probably benign	0.01
R9063:Mfsd7a	UTSW	5	108442237	missense	probably damaging	1.00
R9277:Mfsd7a	UTSW	5	108441998	missense	probably benign
R9797:Mfsd7a	UTSW	5	108445537	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TAACGACTTTGCCTCTGTCAG -3'
(R):5'- TCTGACTGCCTGGACAGTTG -3'

Sequencing Primer
(F):5'- GACTTTGCCTCTGTCAGAGCTTTTAG -3'
(R):5'- CCTGGACAGTTGAGGGTCAG -3'

Posted On

2015-10-21