Mutagenetix > Incidental Mutation

Incidental Mutation 'R6649:Mfsd14b'

527702

Institutional Source

Beutler Lab

Gene Symbol

Mfsd14b

Ensembl Gene

ENSMUSG00000038212

Gene Name

major facilitator superfamily domain containing 14B

Synonyms

5730414C17Rik, Hiatl1

MMRRC Submission

044770-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R6649 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65212844-65260813 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65214599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 451 (I451N)

Ref Sequence

ENSEMBL: ENSMUSP00000118180 (fasta)

Gene Model

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

AlphaFold

Q8CIA9

Predicted Effect

probably damaging
Transcript: ENSMUST00000054730
AA Change: I451N

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

SMART Domains

Protein: ENSMUSP00000062566
Gene: ENSMUSG00000038212
AA Change: I451N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148779

Predicted Effect

probably damaging
Transcript: ENSMUST00000155487
AA Change: I451N

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

SMART Domains

Protein: ENSMUSP00000118180
Gene: ENSMUSG00000038212
AA Change: I451N

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: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	A	19: 43,800,941 (GRCm39)	H627Q	probably benign	Het
Abra	G	A	15: 41,732,629 (GRCm39)	L146F	probably benign	Het
Adamts7	T	C	9: 90,073,990 (GRCm39)	C857R	probably damaging	Het
Ankhd1	A	T	18: 36,733,836 (GRCm39)		probably null	Het
Asb15	A	G	6: 24,562,632 (GRCm39)	N198S	probably benign	Het
Asb16	A	T	11: 102,159,863 (GRCm39)	Q72L	possibly damaging	Het
Atosa	T	G	9: 74,917,432 (GRCm39)	L677R	probably damaging	Het
Bbox1	G	T	2: 110,135,914 (GRCm39)	H22N	probably benign	Het
Bcdin3d	T	C	15: 99,368,696 (GRCm39)	T168A	probably damaging	Het
Bmp1	A	T	14: 70,728,058 (GRCm39)	W624R	probably damaging	Het
Cdh18	A	T	15: 23,436,620 (GRCm39)	Y492F	possibly damaging	Het
Cep290	A	C	10: 100,354,393 (GRCm39)	D848A	probably benign	Het
Cip2a	A	T	16: 48,837,829 (GRCm39)	Q843L	probably damaging	Het
Cmya5	G	C	13: 93,234,533 (GRCm39)	S185C	possibly damaging	Het
Cops9	C	T	1: 92,568,136 (GRCm39)		probably benign	Het
Cutal	C	T	2: 34,775,933 (GRCm39)	T88I	probably benign	Het
Dlg4	G	T	11: 69,914,779 (GRCm39)		probably benign	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Eef2	CCC	CCCC	10: 81,014,602 (GRCm39)		probably null	Het
Erp44	T	C	4: 48,205,130 (GRCm39)	I288V	probably null	Het
Fat3	T	C	9: 16,288,038 (GRCm39)	D495G	probably damaging	Het
Fsip2	T	C	2: 82,798,161 (GRCm39)	V485A	possibly damaging	Het
Gm14496	A	T	2: 181,639,269 (GRCm39)	H453L	possibly damaging	Het
Gm17027	T	C	14: 41,981,236 (GRCm39)	T207A	unknown	Het
Gm6902	T	G	7: 22,973,159 (GRCm39)	T123P	possibly damaging	Het
Gpat2	T	G	2: 127,274,355 (GRCm39)	W366G	possibly damaging	Het
Heatr6	A	T	11: 83,650,191 (GRCm39)	T216S	probably benign	Het
Hsd17b14	T	C	7: 45,205,500 (GRCm39)	V11A	probably damaging	Het
Jak2	T	A	19: 29,266,110 (GRCm39)	I517N	probably benign	Het
Kmt5b	G	A	19: 3,857,295 (GRCm39)	G351R	probably damaging	Het
Mau2	G	T	8: 70,484,166 (GRCm39)	Q141K	possibly damaging	Het
Mfsd13a	T	C	19: 46,356,305 (GRCm39)	F137L	probably damaging	Het
Mfsd13a	A	G	19: 46,360,704 (GRCm39)	H394R	probably benign	Het
Milr1	C	T	11: 106,648,537 (GRCm39)	H143Y	probably benign	Het
Mon2	T	G	10: 122,874,385 (GRCm39)	K321T	possibly damaging	Het
Nlrp9c	T	A	7: 26,070,747 (GRCm39)	N945Y	probably damaging	Het
Nwd2	A	G	5: 63,882,527 (GRCm39)	R60G	possibly damaging	Het
Or2z2	A	T	11: 58,346,394 (GRCm39)	I127N	probably damaging	Het
Or52b2	T	C	7: 104,986,914 (GRCm39)	H3R	probably benign	Het
Or8g20	A	G	9: 39,396,048 (GRCm39)	V164A	probably benign	Het
Papola	A	T	12: 105,778,566 (GRCm39)	I315L	possibly damaging	Het
Phf3	A	T	1: 30,844,104 (GRCm39)	S1618R	possibly damaging	Het
Phyhipl	A	G	10: 70,404,843 (GRCm39)	F77L	probably damaging	Het
Ppp3cb	A	G	14: 20,581,094 (GRCm39)	L110P	probably damaging	Het
Prss53	T	G	7: 127,485,747 (GRCm39)	E531A	probably benign	Het
Raf1	A	T	6: 115,608,302 (GRCm39)	H236Q	probably benign	Het
Ryr2	A	G	13: 11,610,529 (GRCm39)	V4099A	probably damaging	Het
Sfxn3	G	A	19: 45,038,354 (GRCm39)		probably null	Het
Sh3pxd2b	T	C	11: 32,365,978 (GRCm39)		probably null	Het
Slco6c1	C	T	1: 97,053,436 (GRCm39)	S155N	probably benign	Het
Speer4f2	A	G	5: 17,580,767 (GRCm39)	T115A	probably benign	Het
Spry1	T	C	3: 37,696,871 (GRCm39)	I38T	probably damaging	Het
Tagap	T	C	17: 8,152,546 (GRCm39)	V577A	probably benign	Het
Ubr4	C	A	4: 139,200,935 (GRCm39)	H4706Q	possibly damaging	Het
Vmn2r112	T	A	17: 22,820,160 (GRCm39)	L11Q	probably null	Het
Zfp60	T	C	7: 27,448,151 (GRCm39)	F273S	probably benign	Het
Zfp938	A	T	10: 82,061,232 (GRCm39)	Y463N	probably damaging	Het

Other mutations in Mfsd14b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00697:Mfsd14b	APN	13	65,214,515 (GRCm39)	missense	probably benign	0.00
IGL01935:Mfsd14b	APN	13	65,215,739 (GRCm39)	missense	probably benign
IGL01957:Mfsd14b	APN	13	65,234,907 (GRCm39)	missense	possibly damaging	0.90
R0555:Mfsd14b	UTSW	13	65,226,259 (GRCm39)	missense	probably benign	0.34
R0601:Mfsd14b	UTSW	13	65,234,964 (GRCm39)	missense	possibly damaging	0.88
R0988:Mfsd14b	UTSW	13	65,260,307 (GRCm39)	splice site	probably benign
R1136:Mfsd14b	UTSW	13	65,243,506 (GRCm39)	missense	probably benign	0.22
R1494:Mfsd14b	UTSW	13	65,243,485 (GRCm39)	missense	probably damaging	1.00
R2087:Mfsd14b	UTSW	13	65,215,796 (GRCm39)	missense	probably damaging	1.00
R4223:Mfsd14b	UTSW	13	65,214,422 (GRCm39)	utr 3 prime	probably benign
R5103:Mfsd14b	UTSW	13	65,234,907 (GRCm39)	missense	possibly damaging	0.56
R5568:Mfsd14b	UTSW	13	65,219,936 (GRCm39)	splice site	probably null
R5603:Mfsd14b	UTSW	13	65,221,420 (GRCm39)	missense	probably benign	0.00
R6181:Mfsd14b	UTSW	13	65,260,398 (GRCm39)	missense	probably benign	0.00
R6330:Mfsd14b	UTSW	13	65,243,500 (GRCm39)	missense	probably damaging	1.00
R7460:Mfsd14b	UTSW	13	65,219,837 (GRCm39)	missense	probably damaging	1.00
R7605:Mfsd14b	UTSW	13	65,214,591 (GRCm39)	missense	probably benign
R9034:Mfsd14b	UTSW	13	65,223,500 (GRCm39)	missense	probably damaging	1.00
R9268:Mfsd14b	UTSW	13	65,222,855 (GRCm39)	missense	probably damaging	1.00
R9545:Mfsd14b	UTSW	13	65,221,414 (GRCm39)	missense	probably benign	0.00
R9597:Mfsd14b	UTSW	13	65,221,414 (GRCm39)	missense	probably benign	0.00
R9598:Mfsd14b	UTSW	13	65,221,414 (GRCm39)	missense	probably benign	0.00
R9598:Mfsd14b	UTSW	13	65,214,522 (GRCm39)	missense	probably benign	0.00
R9633:Mfsd14b	UTSW	13	65,221,414 (GRCm39)	missense	probably benign	0.00
R9672:Mfsd14b	UTSW	13	65,260,320 (GRCm39)	missense	probably benign	0.00
R9696:Mfsd14b	UTSW	13	65,221,414 (GRCm39)	missense	probably benign	0.00
R9698:Mfsd14b	UTSW	13	65,221,414 (GRCm39)	missense	probably benign	0.00
R9702:Mfsd14b	UTSW	13	65,221,414 (GRCm39)	missense	probably benign	0.00
R9755:Mfsd14b	UTSW	13	65,221,414 (GRCm39)	missense	probably benign	0.00
R9756:Mfsd14b	UTSW	13	65,221,414 (GRCm39)	missense	probably benign	0.00
R9783:Mfsd14b	UTSW	13	65,221,414 (GRCm39)	missense	probably benign	0.00
R9801:Mfsd14b	UTSW	13	65,221,414 (GRCm39)	missense	probably benign	0.00
R9802:Mfsd14b	UTSW	13	65,221,414 (GRCm39)	missense	probably benign	0.00
R9803:Mfsd14b	UTSW	13	65,221,414 (GRCm39)	missense	probably benign	0.00
X0017:Mfsd14b	UTSW	13	65,219,867 (GRCm39)	missense	probably benign	0.08
X0027:Mfsd14b	UTSW	13	65,219,825 (GRCm39)	missense	probably benign	0.16
X0063:Mfsd14b	UTSW	13	65,226,299 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GATGGTGTCTGCAGAATCTCC -3'
(R):5'- GTTGTGATGTTAAGGCCACTC -3'

Sequencing Primer
(F):5'- GCAGAATCTCCATTACTACTGGG -3'
(R):5'- GTGATGTTAAGGCCACTCTAAATAGC -3'

Posted On

2018-07-23