Mutagenetix > Incidental Mutations

Incidental Mutation 'R1494:Mfsd14b'

163836

Institutional Source

Beutler Lab

Gene Symbol

Mfsd14b

Ensembl Gene

ENSMUSG00000038212

Gene Name

major facilitator superfamily domain containing 14B

Synonyms

5730414C17Rik, Hiatl1

MMRRC Submission

039545-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R1494 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65064663-65112975 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65095671 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 53 (V53D)

Ref Sequence

ENSEMBL: ENSMUSP00000118180 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000054730
AA Change: V53D

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

SMART Domains

Protein: ENSMUSP00000062566
Gene: ENSMUSG00000038212
AA Change: V53D

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: V53D

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

SMART Domains

Protein: ENSMUSP00000118180
Gene: ENSMUSG00000038212
AA Change: V53D

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

Meta Mutation Damage Score

0.9267

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.3%

Validation Efficiency

97% (57/59)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	A	G	17: 48,090,471	E92G	probably benign	Het
Abca13	C	T	11: 9,466,429	Q4064*	probably null	Het
Abca14	G	A	7: 120,216,301	M257I	probably benign	Het
Acsm2	T	A	7: 119,575,632	C207S	probably damaging	Het
Actr3	A	G	1: 125,416,281	I67T	probably benign	Het
Adcy7	T	C	8: 88,320,207	V606A	probably benign	Het
Ahnak2	G	A	12: 112,787,950	S54F	probably damaging	Het
Ano6	T	C	15: 95,972,507	S848P	probably damaging	Het
Atg3	C	T	16: 45,171,760		probably benign	Het
Atp8b1	T	A	18: 64,564,526	S416C	probably damaging	Het
C2cd5	A	G	6: 143,041,346		probably benign	Het
Capn11	A	T	17: 45,643,809	V134E	probably damaging	Het
Ccnd3	A	G	17: 47,598,108		probably null	Het
Chaf1b	T	A	16: 93,888,110	V149E	probably damaging	Het
Col5a2	T	A	1: 45,502,914	M1L	unknown	Het
Copa	T	C	1: 172,104,127	I315T	probably benign	Het
Cyp3a57	A	G	5: 145,381,267	M353V	probably damaging	Het
Dcaf6	T	C	1: 165,333,373	M828V	probably damaging	Het
Dock2	T	A	11: 34,282,761	K1080*	probably null	Het
Dock6	A	G	9: 21,814,742	V1424A	probably benign	Het
Foxa1	T	C	12: 57,542,198	D412G	probably damaging	Het
Foxp4	G	C	17: 47,880,353		probably benign	Het
Galnt9	T	A	5: 110,588,330	S171T	probably damaging	Het
Glt6d1	A	G	2: 25,794,248	Y249H	probably damaging	Het
Gm37240	A	T	3: 84,527,691	Y104N	probably damaging	Het
Gpx8	C	T	13: 113,045,615	E95K	possibly damaging	Het
Grm1	T	C	10: 10,689,706	T953A	probably benign	Het
Helz	T	C	11: 107,604,063		probably benign	Het
Hif3a	T	C	7: 17,054,722	Y108C	probably damaging	Het
Kcnj13	A	T	1: 87,389,217	L58Q	probably damaging	Het
Mrps7	G	C	11: 115,604,126		probably benign	Het
Mug1	G	A	6: 121,879,300	G1013D	probably damaging	Het
Olfr652	T	A	7: 104,564,831	Y203*	probably null	Het
Olfr767	A	T	10: 129,079,615	M116K	probably damaging	Het
Pax6	T	C	2: 105,691,610	I19T	probably benign	Het
Pde8b	G	A	13: 95,047,796	R416C	probably damaging	Het
Prl2c2	G	C	13: 13,002,201	T47R	probably damaging	Het
Pygl	G	A	12: 70,199,730	R348W	probably damaging	Het
Ralgapa1	T	A	12: 55,684,524	D1874V	probably damaging	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Sncaip	T	C	18: 52,868,886	S160P	probably damaging	Het
Sptbn4	A	G	7: 27,434,294	V79A	probably damaging	Het
Sptlc3	A	T	2: 139,589,560	Y334F	possibly damaging	Het
Supt16	A	G	14: 52,172,459	Y764H	probably benign	Het
Syne3	A	T	12: 104,955,582	V438E	possibly damaging	Het
Tagap1	T	C	17: 6,956,811	D162G	probably damaging	Het
Terb1	T	C	8: 104,498,490		probably benign	Het
Themis3	C	A	17: 66,559,954	R97L	probably benign	Het
Tnk1	T	A	11: 69,856,546	E86D	possibly damaging	Het
Tnpo3	A	G	6: 29,557,044	L53P	probably damaging	Het
Trpc6	G	A	9: 8,658,304	R725K	probably benign	Het
Ttll11	T	G	2: 35,795,379	T566P	probably damaging	Het
Unc5c	A	T	3: 141,827,549	T779S	possibly damaging	Het
Zfp42	A	G	8: 43,295,601	C288R	possibly damaging	Het
Zfp763	G	A	17: 33,021,503	T52I	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
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
R7460:Mfsd14b	UTSW	13	65072023	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	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CCCTGCATCTCTTCTTTGGTACTTGTTT -3'
(R):5'- ATCTTGGTCCCCAGTGTGGTTTTATTTT -3'

Sequencing Primer
(F):5'- agcactgctgcacttcc -3'
(R):5'- TTTTAAGTAATAGAGGTGGTCCAAAG -3'

Posted On

2014-03-28