Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01935:Mfsd14b'

180630

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mfsd14b

Ensembl Gene

ENSMUSG00000038212

Gene Name

major facilitator superfamily domain containing 14B

Synonyms

5730414C17Rik, Hiatl1

Accession Numbers

Essential gene?

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

Stock #

IGL01935

Quality Score

Status

Chromosome

Chromosomal Location

65212844-65260813 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65215739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 405 (M405L)

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: M405L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000062566
Gene: ENSMUSG00000038212
AA Change: M405L

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 benign
Transcript: ENSMUST00000155487
AA Change: M405L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118180
Gene: ENSMUSG00000038212
AA Change: M405L

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	C	T	6: 140,583,383 (GRCm39)		probably benign	Het
Akr1c12	A	T	13: 4,322,244 (GRCm39)	V266E	probably damaging	Het
Arhgef1	A	G	7: 24,621,307 (GRCm39)	T186A	probably damaging	Het
Atp8b5	A	G	4: 43,366,638 (GRCm39)	T801A	probably benign	Het
Card11	T	A	5: 140,869,301 (GRCm39)	I832F	possibly damaging	Het
Catsperg1	T	C	7: 28,895,296 (GRCm39)		probably null	Het
Ccdc180	A	G	4: 45,906,889 (GRCm39)	T455A	possibly damaging	Het
Cfhr1	T	A	1: 139,478,740 (GRCm39)	Y210F	probably benign	Het
Chrna5	T	C	9: 54,912,127 (GRCm39)	V309A	probably benign	Het
Clstn2	A	G	9: 97,345,521 (GRCm39)	V609A	probably damaging	Het
Dnah6	T	C	6: 73,037,126 (GRCm39)	D3372G	probably benign	Het
Dtymk	T	C	1: 93,722,465 (GRCm39)	K113E	probably benign	Het
Eef2k	T	C	7: 120,485,054 (GRCm39)	F307S	probably damaging	Het
Flnc	T	A	6: 29,454,279 (GRCm39)	V1864E	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Herc2	A	G	7: 55,803,541 (GRCm39)	Y2192C	probably benign	Het
Hkdc1	A	T	10: 62,236,165 (GRCm39)	V459E	probably damaging	Het
Iqsec3	T	C	6: 121,360,951 (GRCm39)	D969G	probably damaging	Het
Irf3	A	G	7: 44,650,194 (GRCm39)	T237A	probably benign	Het
Jade2	G	A	11: 51,719,211 (GRCm39)	T245I	possibly damaging	Het
Kctd8	A	G	5: 69,497,707 (GRCm39)	I313T	possibly damaging	Het
Kdm5a	T	A	6: 120,385,284 (GRCm39)	S835R	probably benign	Het
Lama2	A	C	10: 27,298,600 (GRCm39)	H165Q	probably damaging	Het
Lrp1b	T	A	2: 41,158,367 (GRCm39)	N1617Y	probably damaging	Het
Mcc	C	T	18: 44,652,583 (GRCm39)		probably null	Het
Myom3	T	A	4: 135,515,692 (GRCm39)	F794I	probably damaging	Het
Napsa	G	T	7: 44,236,046 (GRCm39)	A362S	probably benign	Het
Ncf4	A	T	15: 78,140,186 (GRCm39)	D195V	probably damaging	Het
Or11g1	T	C	14: 50,651,012 (GRCm39)	F4L	probably benign	Het
Pank4	T	G	4: 155,063,987 (GRCm39)	D659E	probably damaging	Het
Pcnx1	T	A	12: 81,964,590 (GRCm39)	D252E	probably benign	Het
Pglyrp2	G	A	17: 32,637,551 (GRCm39)	A159V	probably benign	Het
Phaf1	T	C	8: 105,966,633 (GRCm39)	F127L	probably damaging	Het
Pisd	C	A	5: 32,896,476 (GRCm39)		probably null	Het
Ppfia4	A	G	1: 134,245,674 (GRCm39)	S627P	probably benign	Het
Ppp1r15b	T	C	1: 133,059,761 (GRCm39)	F93L	probably benign	Het
Pramel13	C	T	4: 144,119,172 (GRCm39)		probably benign	Het
Qrfpr	A	T	3: 36,235,200 (GRCm39)		probably null	Het
Rapgef4	C	A	2: 72,064,467 (GRCm39)	T623K	probably benign	Het
Rapgef6	A	G	11: 54,501,668 (GRCm39)	T184A	possibly damaging	Het
Ssrp1	T	C	2: 84,877,056 (GRCm39)	*709Q	probably null	Het
St7	T	G	6: 17,930,822 (GRCm39)	I442S	probably damaging	Het
Syne2	T	A	12: 75,972,087 (GRCm39)	H992Q	probably damaging	Het
Syt14	T	C	1: 192,615,679 (GRCm39)	R436G	probably damaging	Het
Tbc1d5	A	G	17: 51,270,793 (GRCm39)		probably benign	Het
Thsd7a	T	A	6: 12,317,418 (GRCm39)	N1630I	probably damaging	Het
Tinagl1	T	C	4: 130,061,794 (GRCm39)	K180R	probably damaging	Het
Tmed7	T	C	18: 46,730,190 (GRCm39)	T54A	probably benign	Het
Tmprss2	A	T	16: 97,379,795 (GRCm39)	Y48*	probably null	Het
Tns2	C	T	15: 102,020,069 (GRCm39)		probably null	Het
Unc13d	T	C	11: 115,960,577 (GRCm39)	M496V	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zbtb39	A	G	10: 127,578,235 (GRCm39)	T270A	probably benign	Het
Zfr	T	C	15: 12,180,798 (GRCm39)	S976P	probably benign	Het
Zscan29	A	G	2: 121,000,538 (GRCm39)	F23S	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
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
R6649:Mfsd14b	UTSW	13	65,214,599 (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

Posted On

2014-05-07