Mutagenetix > Incidental Mutation

Incidental Mutation 'R0152:Mfsd12'

22792

Institutional Source

Beutler Lab

Gene Symbol

Mfsd12

Ensembl Gene

ENSMUSG00000034854

Gene Name

major facilitator superfamily domain containing 12

Synonyms

gr, F630110N24Rik, Wdt1

MMRRC Submission

038435-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.594) question?

Stock #

R0152 (G1)

Quality Score

195

Status

Not validated

Chromosome

Chromosomal Location

81193325-81202059 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 81193633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 68 (D68Y)

Ref Sequence

ENSEMBL: ENSMUSP00000120259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044844] [ENSMUST00000132368]

AlphaFold

Q3U481

Predicted Effect

probably damaging
Transcript: ENSMUST00000044844
AA Change: D68Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036116
Gene: ENSMUSG00000034854
AA Change: D68Y

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 damaging
Transcript: ENSMUST00000132368
AA Change: D68Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120259
Gene: ENSMUSG00000034854
AA Change: D68Y

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

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.3%
20x: 89.5%

Validation Efficiency

87% (40/46)

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
Aass	T	C	6: 23,074,688 (GRCm39)	D834G	probably damaging	Het
Abca13	T	A	11: 9,531,724 (GRCm39)	H4650Q	probably damaging	Het
Aqr	T	A	2: 113,989,491 (GRCm39)	T111S	probably benign	Het
Arfip2	G	A	7: 105,286,430 (GRCm39)	T124M	probably damaging	Het
Arhgap44	G	T	11: 64,902,745 (GRCm39)	A574E	probably benign	Het
Arhgef26	T	C	3: 62,330,965 (GRCm39)	S560P	probably damaging	Het
Car5a	T	A	8: 122,643,185 (GRCm39)	N273I	probably damaging	Het
Cd4	G	A	6: 124,844,709 (GRCm39)	Q359*	probably null	Het
Cgrrf1	G	A	14: 47,091,370 (GRCm39)	C298Y	probably damaging	Het
Clip3	G	A	7: 30,002,857 (GRCm39)	A416T	probably benign	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Eif3e	G	A	15: 43,115,632 (GRCm39)	A378V	possibly damaging	Het
Ercc6	C	G	14: 32,268,862 (GRCm39)		probably benign	Het
Eri2	A	G	7: 119,389,606 (GRCm39)	V104A	probably damaging	Het
Exph5	T	A	9: 53,264,504 (GRCm39)		probably null	Het
Hmcn1	A	T	1: 150,539,630 (GRCm39)	Y2954N	probably benign	Het
Itga2	C	T	13: 115,002,850 (GRCm39)	G547R	probably benign	Het
Kbtbd11	T	C	8: 15,077,428 (GRCm39)	V9A	probably damaging	Het
Ldb2	T	C	5: 44,699,141 (GRCm39)	D99G	possibly damaging	Het
Mgarp	T	C	3: 51,296,384 (GRCm39)	D228G	probably benign	Het
Myh14	A	T	7: 44,272,605 (GRCm39)	L1441Q	probably damaging	Het
Obscn	T	C	11: 58,943,402 (GRCm39)	D4810G	probably benign	Het
Or10ak9	T	A	4: 118,726,083 (GRCm39)	I34N	possibly damaging	Het
Or14c40	A	T	7: 86,313,719 (GRCm39)	Y283F	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5b12	A	G	19: 12,897,472 (GRCm39)	V67A	possibly damaging	Het
Or8g30	A	G	9: 39,230,757 (GRCm39)	I51T	probably benign	Het
Pdhx	A	G	2: 102,858,625 (GRCm39)	V393A	probably benign	Het
Pdpk1	C	T	17: 24,325,920 (GRCm39)	R92H	possibly damaging	Het
Pgr	A	T	9: 8,965,023 (GRCm39)	I889F	probably benign	Het
Pum2	T	A	12: 8,778,754 (GRCm39)	I468K	possibly damaging	Het
Recql5	A	G	11: 115,785,499 (GRCm39)	S666P	probably benign	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc26a4	T	C	12: 31,579,497 (GRCm39)	I588M	probably damaging	Het
Slc9a2	A	G	1: 40,781,964 (GRCm39)	T398A	probably damaging	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Tub	A	T	7: 108,620,134 (GRCm39)	N93Y	probably damaging	Het
Usp3	T	C	9: 66,447,432 (GRCm39)	T181A	probably damaging	Het
Vars2	A	G	17: 35,970,919 (GRCm39)	L637P	probably damaging	Het
Vmn2r1	T	C	3: 63,989,240 (GRCm39)	S60P	possibly damaging	Het
Wdcp	A	G	12: 4,901,583 (GRCm39)	S480G	probably benign	Het
Zbtb38	T	C	9: 96,568,333 (GRCm39)	Y917C	probably damaging	Het
Zfp68	T	C	5: 138,604,875 (GRCm39)	K445E	probably damaging	Het
Zmynd10	A	G	9: 107,428,144 (GRCm39)		probably null	Het

Other mutations in Mfsd12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01556:Mfsd12	APN	10	81,198,858 (GRCm39)	missense	probably damaging	0.98
IGL01928:Mfsd12	APN	10	81,201,622 (GRCm39)	unclassified	probably benign
P0038:Mfsd12	UTSW	10	81,198,052 (GRCm39)	missense	probably benign	0.02
R0048:Mfsd12	UTSW	10	81,198,648 (GRCm39)	missense	possibly damaging	0.77
R0048:Mfsd12	UTSW	10	81,198,648 (GRCm39)	missense	possibly damaging	0.77
R0317:Mfsd12	UTSW	10	81,193,633 (GRCm39)	missense	probably damaging	1.00
R0565:Mfsd12	UTSW	10	81,197,243 (GRCm39)	missense	probably benign	0.00
R1283:Mfsd12	UTSW	10	81,197,269 (GRCm39)	missense	probably benign	0.00
R1927:Mfsd12	UTSW	10	81,197,921 (GRCm39)	missense	probably benign	0.15
R1983:Mfsd12	UTSW	10	81,198,090 (GRCm39)	splice site	probably null
R1994:Mfsd12	UTSW	10	81,193,515 (GRCm39)	missense	probably damaging	1.00
R1995:Mfsd12	UTSW	10	81,193,515 (GRCm39)	missense	probably damaging	1.00
R2055:Mfsd12	UTSW	10	81,196,063 (GRCm39)	missense	probably damaging	1.00
R2197:Mfsd12	UTSW	10	81,193,568 (GRCm39)	missense	probably damaging	1.00
R3120:Mfsd12	UTSW	10	81,197,049 (GRCm39)	missense	probably benign	0.00
R4162:Mfsd12	UTSW	10	81,196,931 (GRCm39)	critical splice acceptor site	probably null
R4163:Mfsd12	UTSW	10	81,196,931 (GRCm39)	critical splice acceptor site	probably null
R4417:Mfsd12	UTSW	10	81,200,537 (GRCm39)	unclassified	probably benign
R5622:Mfsd12	UTSW	10	81,199,461 (GRCm39)	missense	probably null	0.98
R6407:Mfsd12	UTSW	10	81,198,067 (GRCm39)	splice site	probably null
R7759:Mfsd12	UTSW	10	81,199,427 (GRCm39)	missense	probably benign	0.10
R7780:Mfsd12	UTSW	10	81,193,718 (GRCm39)	missense	probably benign	0.19
R9198:Mfsd12	UTSW	10	81,198,544 (GRCm39)	missense	probably damaging	1.00
R9566:Mfsd12	UTSW	10	81,196,962 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- GCTATGATAAAAGTCGGAGCCGCAG -3'
(R):5'- AGGACTTCCACAGGGCGACAAC -3'

Sequencing Primer
(F):5'- GCCTCCTCTTGCTGATTGGG -3'
(R):5'- ACACAGGGCGGCATTCAG -3'

Posted On

2013-04-16