Mutagenetix > Incidental Mutation

Incidental Mutation 'R0555:Mfsd14b'

45508

Institutional Source

Beutler Lab

Gene Symbol

Mfsd14b

Ensembl Gene

ENSMUSG00000038212

Gene Name

major facilitator superfamily domain containing 14B

Synonyms

5730414C17Rik, Hiatl1

MMRRC Submission

038747-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.245) question?

Stock #

R0555 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

65064663-65112975 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65078445 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 142 (V142A)

Ref Sequence

ENSEMBL: ENSMUSP00000118180 (fasta)

Gene Model

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

AlphaFold

Q8CIA9

Predicted Effect

probably benign
Transcript: ENSMUST00000054730
AA Change: V142A

PolyPhen 2 Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000062566
Gene: ENSMUSG00000038212
AA Change: V142A

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 benign
Transcript: ENSMUST00000155487
AA Change: V142A

PolyPhen 2 Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118180
Gene: ENSMUSG00000038212
AA Change: V142A

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

0.2434

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 93.8%

Validation Efficiency

100% (98/98)

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	T	A	9: 70,754,234 (GRCm38)	I363N	probably damaging	Het
Ahcyl2	T	C	6: 29,890,671 (GRCm38)		probably benign	Het
Asap1	A	G	15: 64,094,364 (GRCm38)	L941P	probably damaging	Het
Aurka	G	A	2: 172,367,147 (GRCm38)	R23C	probably benign	Het
Cacna1c	C	T	6: 118,612,625 (GRCm38)	R1446H	probably damaging	Het
Casp8ap2	T	A	4: 32,640,381 (GRCm38)	H478Q	probably damaging	Het
Clcn4	C	T	7: 7,290,504 (GRCm38)	A418T	possibly damaging	Het
Cpxm2	A	T	7: 132,044,043 (GRCm38)	Y715*	probably null	Het
Csmd1	T	C	8: 16,185,273 (GRCm38)	M1179V	probably benign	Het
Ddx21	A	T	10: 62,587,528 (GRCm38)	F632I	probably damaging	Het
Dnai1	C	A	4: 41,625,335 (GRCm38)	T433K	possibly damaging	Het
Dpyd	G	A	3: 119,431,542 (GRCm38)	G988D	probably damaging	Het
Dync1i2	AAAAGAAGAGGAAAGAAGAGGAAAG	AAAAGAAGAGGAAAG	2: 71,214,518 (GRCm38)		probably null	Het
Dync1li2	A	T	8: 104,420,665 (GRCm38)	S466T	probably benign	Het
Ears2	T	C	7: 122,048,444 (GRCm38)	T206A	probably benign	Het
Elmod1	A	T	9: 53,931,592 (GRCm38)		probably benign	Het
Eps8l3	C	A	3: 107,892,345 (GRCm38)	D590E	probably benign	Het
Etfdh	A	T	3: 79,605,805 (GRCm38)	H370Q	probably benign	Het
Fam83g	C	A	11: 61,707,663 (GRCm38)	A792E	probably benign	Het
Ffar3	G	T	7: 30,855,537 (GRCm38)	Y119*	probably null	Het
Fosb	G	T	7: 19,307,213 (GRCm38)	S118R	possibly damaging	Het
Foxn4	G	A	5: 114,263,114 (GRCm38)	L3F	probably damaging	Het
Foxo4	A	G	X: 101,255,178 (GRCm38)	K65E	probably damaging	Het
Frem2	A	G	3: 53,516,860 (GRCm38)	L3052P	probably damaging	Het
Fubp3	G	A	2: 31,608,137 (GRCm38)	R101H	probably damaging	Het
Gba2	C	A	4: 43,569,927 (GRCm38)	G429C	probably damaging	Het
Gimap1	T	C	6: 48,741,429 (GRCm38)		probably benign	Het
Gnas	A	G	2: 174,298,511 (GRCm38)	T158A	possibly damaging	Het
Gpc5	T	C	14: 115,552,328 (GRCm38)	V538A	probably damaging	Het
Greb1l	T	C	18: 10,458,781 (GRCm38)		probably benign	Het
H2-M10.5	G	A	17: 36,774,728 (GRCm38)	G260R	probably damaging	Het
Hbs1l	A	C	10: 21,349,323 (GRCm38)	Q412H	probably benign	Het
Hecw1	G	T	13: 14,236,941 (GRCm38)	T1058N	probably damaging	Het
Heph	A	T	X: 96,558,084 (GRCm38)	T1027S	probably damaging	Het
Hoga1	A	C	19: 42,046,075 (GRCm38)	E53A	possibly damaging	Het
Insrr	T	G	3: 87,814,437 (GRCm38)		probably benign	Het
Ipo11	A	T	13: 106,892,461 (GRCm38)	V328D	probably damaging	Het
Jakmip1	T	C	5: 37,118,873 (GRCm38)	V509A	probably damaging	Het
Jmjd1c	T	C	10: 67,225,789 (GRCm38)	V1307A	probably benign	Het
Kmt2a	T	A	9: 44,847,571 (GRCm38)	S1027C	probably damaging	Het
Kprp	G	C	3: 92,824,357 (GRCm38)	P462R	unknown	Het
Lman1l	T	C	9: 57,614,101 (GRCm38)	T193A	probably benign	Het
Lrit3	A	T	3: 129,791,296 (GRCm38)	V271D	probably damaging	Het
Map4	T	A	9: 109,979,103 (GRCm38)		probably benign	Het
Mark4	A	C	7: 19,448,673 (GRCm38)		probably benign	Het
Mis18bp1	A	T	12: 65,161,453 (GRCm38)	I162N	possibly damaging	Het
Mrpl43	A	T	19: 45,005,952 (GRCm38)		probably benign	Het
Mrpl47	A	G	3: 32,736,693 (GRCm38)	F16S	probably benign	Het
Myh2	G	T	11: 67,178,967 (GRCm38)	G380C	probably damaging	Het
Myo15a	T	C	11: 60,521,638 (GRCm38)	Y3284H	probably damaging	Het
Nectin2	A	G	7: 19,733,223 (GRCm38)		probably benign	Het
Neu3	A	G	7: 99,814,183 (GRCm38)	V111A	probably damaging	Het
Nol4l	T	C	2: 153,417,684 (GRCm38)		probably null	Het
Nphp3	C	A	9: 104,023,434 (GRCm38)	H510Q	probably damaging	Het
Nprl3	T	A	11: 32,233,118 (GRCm38)		probably null	Het
Or14c39	A	G	7: 86,695,308 (GRCm38)	N284S	probably damaging	Het
Or4c58	T	C	2: 89,844,443 (GRCm38)	T177A	probably benign	Het
Or52ab7	T	C	7: 103,328,963 (GRCm38)	V159A	probably benign	Het
Or6c2	T	C	10: 129,526,896 (GRCm38)	I223T	possibly damaging	Het
Pex1	A	G	5: 3,606,130 (GRCm38)	E319G	possibly damaging	Het
Pgap6	T	C	17: 26,117,114 (GRCm38)	L130S	probably benign	Het
Phtf1	C	A	3: 104,004,469 (GRCm38)	T709K	probably damaging	Het
Plek2	A	T	12: 78,892,172 (GRCm38)	L271Q	probably damaging	Het
Plekhg5	T	A	4: 152,107,469 (GRCm38)	C421*	probably null	Het
Polk	A	C	13: 96,484,179 (GRCm38)	C525W	probably damaging	Het
Ppfibp2	T	C	7: 107,729,174 (GRCm38)	S471P	probably damaging	Het
Prickle2	A	T	6: 92,458,565 (GRCm38)	F74L	probably benign	Het
Prl7d1	A	T	13: 27,712,055 (GRCm38)	V113D	probably benign	Het
Prr14	C	T	7: 127,472,095 (GRCm38)		probably benign	Het
Ptpro	T	A	6: 137,443,594 (GRCm38)	V1007D	probably damaging	Het
Ret	A	G	6: 118,178,610 (GRCm38)	V375A	probably damaging	Het
Rora	T	C	9: 69,361,746 (GRCm38)	F41S	probably damaging	Het
Sall1	T	C	8: 89,031,758 (GRCm38)	T573A	probably benign	Het
Shb	A	G	4: 45,458,321 (GRCm38)	V281A	possibly damaging	Het
Slc25a26	A	T	6: 94,592,410 (GRCm38)		probably null	Het
Sltm	T	C	9: 70,586,081 (GRCm38)	F769L	probably damaging	Het
Snx9	T	A	17: 5,918,413 (GRCm38)	M328K	probably damaging	Het
Stk25	G	T	1: 93,624,591 (GRCm38)	Q356K	probably benign	Het
Svep1	T	A	4: 58,128,858 (GRCm38)	Y613F	possibly damaging	Het
Syne4	G	A	7: 30,316,744 (GRCm38)	A195T	probably damaging	Het
Tmem217b	A	T	17: 29,519,571 (GRCm38)	F74I	probably benign	Het
Trcg1	C	T	9: 57,242,333 (GRCm38)	T396M	probably damaging	Het
Trim30b	A	G	7: 104,357,298 (GRCm38)	V117A	possibly damaging	Het
Trpc4	T	C	3: 54,302,090 (GRCm38)		probably benign	Het
Ttll4	A	G	1: 74,688,280 (GRCm38)	H827R	probably damaging	Het
Tut7	A	G	13: 59,800,317 (GRCm38)	V328A	probably benign	Het
Urgcp	T	C	11: 5,717,477 (GRCm38)	E287G	probably damaging	Het
Usp2	G	T	9: 44,092,784 (GRCm38)	L319F	probably damaging	Het
Vmn1r167	A	T	7: 23,505,087 (GRCm38)	V168D	probably damaging	Het
Vmn2r100	C	A	17: 19,522,120 (GRCm38)	P252Q	possibly damaging	Het
Vmn2r61	A	T	7: 42,266,018 (GRCm38)	I130F	probably benign	Het
Vmn2r63	A	T	7: 42,928,528 (GRCm38)	Y195*	probably null	Het
Vmn2r81	T	C	10: 79,293,449 (GRCm38)	S725P	probably damaging	Het
Wnt10b	A	G	15: 98,772,937 (GRCm38)		probably benign	Het
Zfp292	T	C	4: 34,807,194 (GRCm38)	E1950G	probably damaging	Het
Zfyve16	A	G	13: 92,516,520 (GRCm38)		probably benign	Het

Other mutations in Mfsd14b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00697:Mfsd14b	APN	13	65,066,701 (GRCm38)	missense	probably benign	0.00
IGL01935:Mfsd14b	APN	13	65,067,925 (GRCm38)	missense	probably benign
IGL01957:Mfsd14b	APN	13	65,087,093 (GRCm38)	missense	possibly damaging	0.90
R0601:Mfsd14b	UTSW	13	65,087,150 (GRCm38)	missense	possibly damaging	0.88
R0988:Mfsd14b	UTSW	13	65,112,493 (GRCm38)	splice site	probably benign
R1136:Mfsd14b	UTSW	13	65,095,692 (GRCm38)	missense	probably benign	0.22
R1494:Mfsd14b	UTSW	13	65,095,671 (GRCm38)	missense	probably damaging	1.00
R2087:Mfsd14b	UTSW	13	65,067,982 (GRCm38)	missense	probably damaging	1.00
R4223:Mfsd14b	UTSW	13	65,066,608 (GRCm38)	utr 3 prime	probably benign
R5103:Mfsd14b	UTSW	13	65,087,093 (GRCm38)	missense	possibly damaging	0.56
R5568:Mfsd14b	UTSW	13	65,072,122 (GRCm38)	splice site	probably null
R5603:Mfsd14b	UTSW	13	65,073,606 (GRCm38)	missense	probably benign	0.00
R6181:Mfsd14b	UTSW	13	65,112,584 (GRCm38)	missense	probably benign	0.00
R6330:Mfsd14b	UTSW	13	65,095,686 (GRCm38)	missense	probably damaging	1.00
R6649:Mfsd14b	UTSW	13	65,066,785 (GRCm38)	missense	probably damaging	1.00
R7460:Mfsd14b	UTSW	13	65,072,023 (GRCm38)	missense	probably damaging	1.00
R7605:Mfsd14b	UTSW	13	65,066,777 (GRCm38)	missense	probably benign
R9034:Mfsd14b	UTSW	13	65,075,686 (GRCm38)	missense	probably damaging	1.00
R9268:Mfsd14b	UTSW	13	65,075,041 (GRCm38)	missense	probably damaging	1.00
R9545:Mfsd14b	UTSW	13	65,073,600 (GRCm38)	missense	probably benign	0.00
R9597:Mfsd14b	UTSW	13	65,073,600 (GRCm38)	missense	probably benign	0.00
R9598:Mfsd14b	UTSW	13	65,073,600 (GRCm38)	missense	probably benign	0.00
R9598:Mfsd14b	UTSW	13	65,066,708 (GRCm38)	missense	probably benign	0.00
R9633:Mfsd14b	UTSW	13	65,073,600 (GRCm38)	missense	probably benign	0.00
R9672:Mfsd14b	UTSW	13	65,112,506 (GRCm38)	missense	probably benign	0.00
R9696:Mfsd14b	UTSW	13	65,073,600 (GRCm38)	missense	probably benign	0.00
R9698:Mfsd14b	UTSW	13	65,073,600 (GRCm38)	missense	probably benign	0.00
R9702:Mfsd14b	UTSW	13	65,073,600 (GRCm38)	missense	probably benign	0.00
R9755:Mfsd14b	UTSW	13	65,073,600 (GRCm38)	missense	probably benign	0.00
R9756:Mfsd14b	UTSW	13	65,073,600 (GRCm38)	missense	probably benign	0.00
R9783:Mfsd14b	UTSW	13	65,073,600 (GRCm38)	missense	probably benign	0.00
R9801:Mfsd14b	UTSW	13	65,073,600 (GRCm38)	missense	probably benign	0.00
R9802:Mfsd14b	UTSW	13	65,073,600 (GRCm38)	missense	probably benign	0.00
R9803:Mfsd14b	UTSW	13	65,073,600 (GRCm38)	missense	probably benign	0.00
X0017:Mfsd14b	UTSW	13	65,072,053 (GRCm38)	missense	probably benign	0.08
X0027:Mfsd14b	UTSW	13	65,072,011 (GRCm38)	missense	probably benign	0.16
X0063:Mfsd14b	UTSW	13	65,078,485 (GRCm38)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CCATAACACCAGCCCTTAAGAGGAAGAT -3'
(R):5'- GGTGCTGAAATGCTCTACCTATGAGAAA -3'

Sequencing Primer
(F):5'- GGAAGATTCTAAGTTTGAGGTCAAC -3'
(R):5'- AGTCTTTCAGTTGGTAGAAGATGATA -3'

Posted On

2013-06-11