Mutagenetix > Incidental Mutation

Incidental Mutation 'R4417:Mfsd12'

326889

Institutional Source

Beutler Lab

Gene Symbol

Mfsd12

Ensembl Gene

ENSMUSG00000034854

Gene Name

major facilitator superfamily domain containing 12

Synonyms

Wdt1, F630110N24Rik

MMRRC Submission

041138-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.662) question?

Stock #

R4417 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81357491-81366225 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 81364703 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114203 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020456] [ENSMUST00000020457] [ENSMUST00000044844] [ENSMUST00000118812] [ENSMUST00000132368] [ENSMUST00000140901]

AlphaFold

Q3U481

Predicted Effect

probably benign
Transcript: ENSMUST00000020456

SMART Domains

Protein: ENSMUSP00000020456
Gene: ENSMUSG00000020234

Domain	Start	End	E-Value	Type
Pfam:DUF4531	23	204	1.3e-113	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000020457

SMART Domains

Protein: ENSMUSP00000020457
Gene: ENSMUSG00000020235

Domain	Start	End	E-Value	Type
Blast:WD40	172	213	8e-21	BLAST
WD40	218	257	1.2e-2	SMART
WD40	260	297	6.79e-2	SMART
WD40	302	341	3.55e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000044844

SMART Domains

Protein: ENSMUSP00000036116
Gene: ENSMUSG00000034854

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:MFS_2	20	423	5.2e-43	PFAM
Pfam:MFS_1	154	416	6.8e-12	PFAM
transmembrane domain	441	463	N/A	INTRINSIC
low complexity region	464	476	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118812

SMART Domains

Protein: ENSMUSP00000112868
Gene: ENSMUSG00000020235

Domain	Start	End	E-Value	Type
WD40	129	168	5.6e-3	SMART
WD40	171	208	6.79e-2	SMART
WD40	213	252	3.99e-8	SMART
WD40	255	297	2.84e-4	SMART
WD40	300	340	1.98e1	SMART
WD40	343	382	1.11e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124512

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130762

Predicted Effect

probably benign
Transcript: ENSMUST00000131736

SMART Domains

Protein: ENSMUSP00000123068
Gene: ENSMUSG00000020234

Domain	Start	End	E-Value	Type
Pfam:DUF4531	1	128	2.6e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132368

SMART Domains

Protein: ENSMUSP00000120259
Gene: ENSMUSG00000034854

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:MFS_2	20	102	3.7e-11	PFAM
low complexity region	118	124	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138343

Predicted Effect

probably benign
Transcript: ENSMUST00000140901

SMART Domains

Protein: ENSMUSP00000114203
Gene: ENSMUSG00000020235

Domain	Start	End	E-Value	Type
Blast:WD40	172	213	1e-19	BLAST
WD40	218	257	1.2e-2	SMART
WD40	260	297	6.79e-2	SMART
WD40	302	341	3.99e-8	SMART
WD40	344	386	2.84e-4	SMART
WD40	389	429	1.98e1	SMART
WD40	432	471	1.11e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150824

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (53/53)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit a grey (grizzled) coat. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	T	C	4: 41,505,574	T183A	possibly damaging	Het
A630001G21Rik	T	A	1: 85,726,463	Y51F	probably damaging	Het
Abi3bp	C	A	16: 56,654,035	T631K	probably damaging	Het
BC004004	G	A	17: 29,282,275		probably benign	Het
Cabp1	G	A	5: 115,186,037	S7L	possibly damaging	Het
Cdc23	ACC	AC	18: 34,637,318		probably null	Het
Clhc1	T	C	11: 29,571,826	I453T	possibly damaging	Het
Col28a1	T	A	6: 8,175,666	I61F	possibly damaging	Het
Col2a1	T	C	15: 97,998,585	E61G	unknown	Het
Col6a4	C	T	9: 106,072,016	V807I	probably damaging	Het
Crhbp	T	C	13: 95,443,877	S65G	probably benign	Het
Dnah9	T	A	11: 65,981,214	Q2730L	possibly damaging	Het
Epx	T	A	11: 87,869,430	R453*	probably null	Het
Fez1	T	C	9: 36,870,472		probably benign	Het
G530012D18Rik	G	C	1: 85,577,202		probably benign	Het
Glp2r	T	C	11: 67,664,516		probably benign	Het
Gm1141	G	A	X: 71,939,619	C399Y	possibly damaging	Het
Gpm6a	T	A	8: 55,050,188	N157K	probably damaging	Het
Kcnj2	T	C	11: 111,072,189	S136P	probably damaging	Het
Lad1	A	G	1: 135,828,746	D364G	probably benign	Het
Lcp2	G	T	11: 34,050,917	E33D	probably benign	Het
Lrrc32	G	T	7: 98,498,937	R308L	probably benign	Het
Matr3	C	A	18: 35,572,118	A32D	probably damaging	Het
Mtmr11	T	C	3: 96,167,891		probably benign	Het
Notch2	A	G	3: 98,131,270	D1243G	possibly damaging	Het
Odf2	T	A	2: 29,915,321		probably benign	Het
Oit3	T	C	10: 59,428,103	Y403C	probably damaging	Het
Olfr1233	T	C	2: 89,339,987	E105G	probably benign	Het
Pitpnm2	G	T	5: 124,123,569	R977S	probably damaging	Het
Prdm13	T	C	4: 21,678,756	E578G	probably benign	Het
Pum3	A	G	19: 27,422,716	I183T	probably damaging	Het
Rdh14	G	A	12: 10,391,231		probably null	Het
Slc35b2	G	A	17: 45,566,429	V161M	probably benign	Het
Slit1	A	G	19: 41,614,469	C968R	probably damaging	Het
Spag9	A	T	11: 94,060,346		probably benign	Het
Stox1	T	C	10: 62,659,569	N975S	probably benign	Het
Stradb	T	C	1: 58,994,372	V398A	probably benign	Het
Tlr4	A	T	4: 66,839,303	N111I	probably damaging	Het
Tnip2	G	A	5: 34,503,581	R176*	probably null	Het
Tomm7	A	G	5: 23,843,979	I32T	probably benign	Het
Trank1	T	C	9: 111,365,968	I1020T	probably benign	Het
Ugt1a10	T	G	1: 88,055,995	S172A	probably benign	Het
Vmn2r115	T	A	17: 23,345,880	M247K	probably benign	Het
Zfp341	T	C	2: 154,628,987	L308P	possibly damaging	Het
Zmym6	T	C	4: 127,092,988	S154P	probably damaging	Het

Other mutations in Mfsd12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01556:Mfsd12	APN	10	81363024	missense	probably damaging	0.98
IGL01928:Mfsd12	APN	10	81365788	unclassified	probably benign
P0038:Mfsd12	UTSW	10	81362218	missense	probably benign	0.02
R0048:Mfsd12	UTSW	10	81362814	missense	possibly damaging	0.77
R0048:Mfsd12	UTSW	10	81362814	missense	possibly damaging	0.77
R0152:Mfsd12	UTSW	10	81357799	missense	probably damaging	1.00
R0317:Mfsd12	UTSW	10	81357799	missense	probably damaging	1.00
R0565:Mfsd12	UTSW	10	81361409	missense	probably benign	0.00
R1283:Mfsd12	UTSW	10	81361435	missense	probably benign	0.00
R1927:Mfsd12	UTSW	10	81362087	missense	probably benign	0.15
R1983:Mfsd12	UTSW	10	81362256	splice site	probably null
R1994:Mfsd12	UTSW	10	81357681	missense	probably damaging	1.00
R1995:Mfsd12	UTSW	10	81357681	missense	probably damaging	1.00
R2055:Mfsd12	UTSW	10	81360229	missense	probably damaging	1.00
R2197:Mfsd12	UTSW	10	81357734	missense	probably damaging	1.00
R3120:Mfsd12	UTSW	10	81361215	missense	probably benign	0.00
R4162:Mfsd12	UTSW	10	81361097	critical splice acceptor site	probably null
R4163:Mfsd12	UTSW	10	81361097	critical splice acceptor site	probably null
R5622:Mfsd12	UTSW	10	81363627	missense	probably null	0.98
R6407:Mfsd12	UTSW	10	81362233	splice site	probably null
R7759:Mfsd12	UTSW	10	81363593	missense	probably benign	0.10
R7780:Mfsd12	UTSW	10	81357884	missense	probably benign	0.19
R9198:Mfsd12	UTSW	10	81362710	missense	probably damaging	1.00
R9566:Mfsd12	UTSW	10	81361128	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- AGTGACCCACGTGCAGTACTAC -3'
(R):5'- AAATTCACGCCCATGGGAC -3'

Sequencing Primer
(F):5'- ACGTGCAGTACTACCCCCG -3'
(R):5'- GGCCAGGTGTGGTTCAC -3'

Posted On

2015-07-07