Mutagenetix > Incidental Mutations

Incidental Mutation 'R7460:Mfsd14b'

578415

Institutional Source

Beutler Lab

Gene Symbol

Mfsd14b

Ensembl Gene

ENSMUSG00000038212

Gene Name

major facilitator superfamily domain containing 14B

Synonyms

5730414C17Rik, Hiatl1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R7460 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65064663-65112975 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 65072023 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 339 (G339D)

Ref Sequence

ENSEMBL: ENSMUSP00000118180 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054730] [ENSMUST00000155487]

Predicted Effect

probably damaging
Transcript: ENSMUST00000054730
AA Change: G339D

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

SMART Domains

Protein: ENSMUSP00000062566
Gene: ENSMUSG00000038212
AA Change: G339D

Domain	Start	End	E-Value	Type
Pfam:MFS_1	50	396	4.5e-33	PFAM
transmembrane domain	428	450	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000155487
AA Change: G339D

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

SMART Domains

Protein: ENSMUSP00000118180
Gene: ENSMUSG00000038212
AA Change: G339D

Domain	Start	End	E-Value	Type
Pfam:MFS_1	50	396	4.6e-33	PFAM
transmembrane domain	428	450	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	T	C	9: 103,254,648	N625D	probably benign	Het
Abi2	T	A	1: 60,434,307	V61D	probably damaging	Het
Agrn	C	A	4: 156,174,424	V915L	probably damaging	Het
Arhgap24	T	C	5: 102,892,346	V476A	probably benign	Het
Arhgef15	A	G	11: 68,947,035	L720P	probably damaging	Het
Atad2b	C	A	12: 4,952,660	R343S	probably benign	Het
Atxn3	T	A	12: 101,926,517	T313S	probably benign	Het
BC037034	G	A	5: 138,262,729	T218M	probably benign	Het
BC051665	T	C	13: 60,784,643	E76G	probably benign	Het
Birc2	A	T	9: 7,818,761	F610I	probably damaging	Het
Cdh16	A	T	8: 104,622,291	V58D	possibly damaging	Het
Cenpf	T	C	1: 189,654,050	D2011G	probably damaging	Het
Ddb1	T	C	19: 10,607,911		probably null	Het
Ddx1	A	G	12: 13,231,439		probably null	Het
Disp2	A	G	2: 118,789,780	H331R	probably damaging	Het
Dmxl1	A	G	18: 49,878,612	T1279A	probably benign	Het
Dync1i2	T	C	2: 71,250,886	I473T	probably damaging	Het
Fam114a1	T	G	5: 65,038,707	V520G	possibly damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fat2	T	A	11: 55,278,963	D2990V	probably damaging	Het
Fbxo18	C	T	2: 11,756,685	G597D	probably benign	Het
Fdxr	A	C	11: 115,276,854	S12A	probably benign	Het
Fgf14	T	A	14: 124,676,693	R9W	possibly damaging	Het
Gnat3	A	T	5: 17,999,658	D103V		Het
Hepacam2	G	A	6: 3,487,199	P53S	probably benign	Het
Jmjd1c	A	G	10: 67,217,036	T21A	probably benign	Het
Lama1	T	C	17: 67,767,018	C930R		Het
Lrp1b	T	C	2: 40,598,466	T4536A		Het
Lrrc27	T	A	7: 139,223,658	V166E	probably damaging	Het
Mapk10	C	T	5: 103,038,577	V90I	probably benign	Het
Mkl2	G	T	16: 13,400,976	Q495H	probably benign	Het
Mnt	T	A	11: 74,843,283	M580K	unknown	Het
Mrc1	T	C	2: 14,248,869	S234P	probably damaging	Het
Mrps5	G	A	2: 127,591,891	V75I	not run	Het
Myo10	A	G	15: 25,807,827	D1845G	probably damaging	Het
Olfr147	T	C	9: 38,403,353	S160P	possibly damaging	Het
Olfr19	C	A	16: 16,673,166	A272S	possibly damaging	Het
Olfr402	A	T	11: 74,155,846	I231F	probably damaging	Het
Olfr559	A	T	7: 102,723,821	M223K	probably benign	Het
Pdhx	G	A	2: 103,046,779	T95M	probably damaging	Het
Pigb	C	T	9: 73,038,675	V72I	probably damaging	Het
Prr7	C	A	13: 55,472,353	P110Q	unknown	Het
Psg22	A	G	7: 18,724,404	D340G	probably benign	Het
Ptprn2	T	C	12: 117,248,681	S908P	probably benign	Het
Ros1	T	C	10: 52,118,203	Y1348C	probably damaging	Het
Rspry1	T	C	8: 94,650,335	I506T	probably benign	Het
Ryr2	T	A	13: 11,705,710	Y2684F	probably benign	Het
Sdr16c6	A	G	4: 4,076,575		probably null	Het
Senp7	A	G	16: 56,173,182	T743A	possibly damaging	Het
Slc6a20b	T	C	9: 123,604,949	I275V	probably benign	Het
Slc6a7	A	G	18: 61,001,602	I467T	probably benign	Het
Tacc2	A	G	7: 130,624,633	D1016G	probably benign	Het
Thsd7a	A	G	6: 12,554,934	V317A		Het
Tle3	A	G	9: 61,413,084	H598R	probably damaging	Het
Tmem102	A	G	11: 69,804,123	L341P	probably damaging	Het
Tmem94	G	T	11: 115,786,256	R118L	possibly damaging	Het
Trhde	T	A	10: 114,413,263	D866V	probably damaging	Het
Ttn	A	G	2: 76,751,273	I23092T	probably damaging	Het
U2surp	C	A	9: 95,462,824	V944L	unknown	Het
Urgcp	T	C	11: 5,716,622	H615R	possibly damaging	Het
Vps45	T	A	3: 96,048,387	Y97F	probably benign	Het
Zc3h12c	T	C	9: 52,144,102	T136A	probably benign	Het
Zfp948	A	T	17: 21,588,415	H623L	probably damaging	Het

Other mutations in Mfsd14b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00697:Mfsd14b	APN	13	65066701	missense	probably benign	0.00
IGL01935:Mfsd14b	APN	13	65067925	missense	probably benign
IGL01957:Mfsd14b	APN	13	65087093	missense	possibly damaging	0.90
R0555:Mfsd14b	UTSW	13	65078445	missense	probably benign	0.34
R0601:Mfsd14b	UTSW	13	65087150	missense	possibly damaging	0.88
R0988:Mfsd14b	UTSW	13	65112493	splice site	probably benign
R1136:Mfsd14b	UTSW	13	65095692	missense	probably benign	0.22
R1494:Mfsd14b	UTSW	13	65095671	missense	probably damaging	1.00
R2087:Mfsd14b	UTSW	13	65067982	missense	probably damaging	1.00
R4223:Mfsd14b	UTSW	13	65066608	utr 3 prime	probably benign
R5103:Mfsd14b	UTSW	13	65087093	missense	possibly damaging	0.56
R5568:Mfsd14b	UTSW	13	65072122	splice site	probably null
R5603:Mfsd14b	UTSW	13	65073606	missense	probably benign	0.00
R6181:Mfsd14b	UTSW	13	65112584	missense	probably benign	0.00
R6330:Mfsd14b	UTSW	13	65095686	missense	probably damaging	1.00
R6649:Mfsd14b	UTSW	13	65066785	missense	probably damaging	1.00
R7605:Mfsd14b	UTSW	13	65066777	missense	probably benign
X0017:Mfsd14b	UTSW	13	65072053	missense	probably benign	0.08
X0027:Mfsd14b	UTSW	13	65072011	missense	probably benign	0.16
X0063:Mfsd14b	UTSW	13	65078485	intron	probably null

Predicted Primers

PCR Primer
(F):5'- CTTGCCCAGGGGTAAAATGTTG -3'
(R):5'- GGGATCATAGACTGTCAGTGTCC -3'

Sequencing Primer
(F):5'- TTGCCCAGGGGTAAAATGTTGAATAC -3'
(R):5'- CAGTGTCCTCTTAAAGGTCCAGTGAG -3'

Posted On

2019-10-07