Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03189:Mfsd14a'

412589

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mfsd14a

Ensembl Gene

ENSMUSG00000089911

Gene Name

major facilitator superfamily domain containing 14A

Synonyms

Hiat1

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.520) question?

Stock #

IGL03189

Quality Score

Status

Chromosome

Chromosomal Location

116631164-116662677 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116641855 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 187 (D187G)

Ref Sequence

ENSEMBL: ENSMUSP00000029570 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029570]

Predicted Effect

probably benign
Transcript: ENSMUST00000029570
AA Change: D187G

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000029570
Gene: ENSMUSG00000089911
AA Change: D187G

Domain	Start	End	E-Value	Type
Pfam:MFS_1	40	388	3.4e-33	PFAM
Pfam:MFS_2	182	407	3.6e-10	PFAM
transmembrane domain	425	447	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130631

Predicted Effect

probably benign
Transcript: ENSMUST00000140672

SMART Domains

Protein: ENSMUSP00000114952
Gene: ENSMUSG00000105103

Domain	Start	End	E-Value	Type
Pfam:Nuc_sug_transp	2	129	2.4e-39	PFAM
Pfam:MFS_1	104	235	1e-13	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility with oligozoospermia, globozoospermia, and defects in spermiogenesis and acrosome formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930412O13Rik	A	G	2: 9,883,823		probably benign	Het
Abcb1b	A	G	5: 8,845,814	T916A	probably benign	Het
Adam22	A	T	5: 8,111,897	Y50*	probably null	Het
Adprhl2	T	C	4: 126,317,294		probably benign	Het
Ahnak	G	A	19: 9,011,239	V3296M	possibly damaging	Het
Bfar	A	G	16: 13,687,501	D125G	possibly damaging	Het
Bmp3	A	T	5: 98,872,720	Q334L	probably benign	Het
Camsap2	A	T	1: 136,281,662	D697E	probably damaging	Het
Car11	A	G	7: 45,702,455	T103A	probably damaging	Het
Cecr2	T	A	6: 120,762,430	S1373T	probably benign	Het
Cenpm	A	G	15: 82,234,433	V160A	possibly damaging	Het
Chl1	A	T	6: 103,683,207	I365F	possibly damaging	Het
Col20a1	C	T	2: 181,009,407	Q1089*	probably null	Het
Csf1r	A	T	18: 61,105,986	T13S	probably benign	Het
Fam13a	T	C	6: 58,956,858	E249G	probably damaging	Het
Fgd6	G	A	10: 94,044,456	V391I	probably benign	Het
Fhdc1	G	A	3: 84,455,061		probably benign	Het
Fn3krp	T	C	11: 121,429,630	I267T	probably damaging	Het
Fras1	A	T	5: 96,743,071	I2820F	probably benign	Het
Fyb2	A	G	4: 105,015,742	I771V	probably damaging	Het
Glis1	A	G	4: 107,615,051	Y275C	probably damaging	Het
Hdgf	A	G	3: 87,913,428	T62A	possibly damaging	Het
Hsd17b3	C	T	13: 64,063,087		probably null	Het
Iqgap1	T	A	7: 80,713,842	Y1655F	probably benign	Het
Izumo1	A	G	7: 45,625,164	D181G	probably damaging	Het
Lrp2	T	C	2: 69,438,478		probably benign	Het
Mark1	T	C	1: 184,919,693	N95S	probably damaging	Het
Mbd5	A	G	2: 49,257,751	K658E	probably damaging	Het
Mcm6	C	T	1: 128,344,302	D453N	probably damaging	Het
Mrpl19	G	T	6: 81,961,993	S276*	probably null	Het
Ncoa2	G	A	1: 13,190,136	T105M	probably damaging	Het
Nop14	A	G	5: 34,650,628		probably benign	Het
Olfr1018	A	G	2: 85,823,558	T196A	probably benign	Het
Olfr1152	G	A	2: 87,868,215	A75T	possibly damaging	Het
Olfr170	T	C	16: 19,606,591	T26A	probably benign	Het
Otud7b	G	A	3: 96,155,478	S678N	probably benign	Het
Pcdhb6	G	A	18: 37,336,152	V25M	probably damaging	Het
Prpf39	G	T	12: 65,043,302	G5*	probably null	Het
Serpinb9d	T	C	13: 33,202,912	V321A	probably damaging	Het
Sh2b1	A	G	7: 126,468,530	S613P	possibly damaging	Het
Snx30	T	C	4: 59,857,452	I55T	probably benign	Het
Spata13	T	C	14: 60,691,614	I207T	possibly damaging	Het
Suco	T	C	1: 161,857,337		probably benign	Het
Svs2	A	G	2: 164,237,112	S292P	possibly damaging	Het
Tcam1	A	G	11: 106,285,386	I313V	probably benign	Het
Tmem45a	A	T	16: 56,811,573	Y227*	probably null	Het
Tnfsf15	A	G	4: 63,730,052		probably benign	Het
Ttc26	C	T	6: 38,425,231	P553S	probably benign	Het
Vmn2r4	C	A	3: 64,389,168	R732L	possibly damaging	Het
Wdr7	C	T	18: 63,760,601	T602I	probably benign	Het

Other mutations in Mfsd14a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03197:Mfsd14a	APN	3	116636363	missense	probably benign	0.01
R1166:Mfsd14a	UTSW	3	116633894	unclassified	probably benign
R1796:Mfsd14a	UTSW	3	116634947	missense	probably damaging	1.00
R1842:Mfsd14a	UTSW	3	116632408	missense	possibly damaging	0.93
R1871:Mfsd14a	UTSW	3	116641320	missense	probably benign	0.11
R2155:Mfsd14a	UTSW	3	116647830	missense	probably damaging	1.00
R2176:Mfsd14a	UTSW	3	116632393	missense	probably benign	0.00
R3078:Mfsd14a	UTSW	3	116647917	splice site	probably benign
R4451:Mfsd14a	UTSW	3	116662478	start codon destroyed	probably null	0.77
R4794:Mfsd14a	UTSW	3	116645506	intron	probably benign
R5197:Mfsd14a	UTSW	3	116648501	intron	probably benign
R5868:Mfsd14a	UTSW	3	116633750	missense	probably benign
R7098:Mfsd14a	UTSW	3	116641712	missense	probably benign	0.22
R7603:Mfsd14a	UTSW	3	116633883	missense	probably damaging	0.97
R7836:Mfsd14a	UTSW	3	116648551	missense	possibly damaging	0.95

Posted On

2016-08-02