Mutagenetix > Incidental Mutation

Incidental Mutation 'R3078:Mfsd14a'

265280

Institutional Source

Beutler Lab

Gene Symbol

Mfsd14a

Ensembl Gene

ENSMUSG00000089911

Gene Name

major facilitator superfamily domain containing 14A

Synonyms

Hiat1

MMRRC Submission

040568-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.528) question?

Stock #

R3078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116424813-116456264 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 116441566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

P70187

Predicted Effect

probably benign
Transcript: ENSMUST00000029570

SMART Domains

Protein: ENSMUSP00000029570
Gene: ENSMUSG00000089911

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

noncoding transcript
Transcript: ENSMUST00000138418

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150402

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

93% (42/45)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,306,764 (GRCm39)	I1981V	probably benign	Het
Actr3b	A	G	5: 26,027,440 (GRCm39)	Y37C	probably damaging	Het
Adgrd1	A	T	5: 129,206,169 (GRCm39)	I248F	probably benign	Het
Alg10b	T	C	15: 90,112,139 (GRCm39)	S328P	probably benign	Het
C5ar2	G	A	7: 15,971,349 (GRCm39)	R193C	probably damaging	Het
Cct8	A	G	16: 87,285,765 (GRCm39)	V231A	possibly damaging	Het
Clca4a	C	T	3: 144,674,014 (GRCm39)	M240I	probably damaging	Het
Cmya5	A	T	13: 93,185,435 (GRCm39)	I3520N	probably damaging	Het
Dock6	G	T	9: 21,757,050 (GRCm39)		probably benign	Het
Dynlrb1	T	A	2: 155,091,865 (GRCm39)	I99N	probably damaging	Het
Ebf4	G	A	2: 130,148,419 (GRCm39)	D77N	probably damaging	Het
Fbxw10	C	T	11: 62,758,339 (GRCm39)		probably benign	Het
Gm10801	T	C	2: 98,494,197 (GRCm39)	I113T	probably damaging	Het
Gm5499	T	C	17: 87,386,314 (GRCm39)		noncoding transcript	Het
Gm9913	A	G	2: 125,348,459 (GRCm39)		probably benign	Het
Herc2	A	G	7: 55,786,991 (GRCm39)	N1612S	probably benign	Het
Ifnar2	T	C	16: 91,182,889 (GRCm39)	S53P	possibly damaging	Het
Inpp5j	T	A	11: 3,453,124 (GRCm39)		probably null	Het
Insyn2a	A	G	7: 134,519,750 (GRCm39)	I260T	probably benign	Het
Iqca1l	G	C	5: 24,751,664 (GRCm39)	T528S	probably benign	Het
Kif14	T	G	1: 136,447,383 (GRCm39)	I1396S	possibly damaging	Het
Med28	A	G	5: 45,679,820 (GRCm39)	T68A	possibly damaging	Het
Meis1	A	T	11: 18,961,254 (GRCm39)	N206K	probably benign	Het
Mnt	G	C	11: 74,733,936 (GRCm39)		probably benign	Het
Mto1	A	G	9: 78,365,310 (GRCm39)	Y413C	probably damaging	Het
Myo7b	T	C	18: 32,100,237 (GRCm39)	D1599G	probably benign	Het
Myoz1	T	C	14: 20,703,685 (GRCm39)		probably benign	Het
Nhsl2	C	T	X: 101,121,201 (GRCm39)	R62W	probably damaging	Het
Npr2	T	A	4: 43,640,182 (GRCm39)	Y306N	probably damaging	Het
Nrxn3	T	G	12: 89,227,186 (GRCm39)	C274G	probably damaging	Het
Or1e29	G	A	11: 73,667,466 (GRCm39)	P229L	possibly damaging	Het
Or5ac22	A	T	16: 59,135,089 (GRCm39)	M227K	probably benign	Het
Phldb2	T	C	16: 45,645,373 (GRCm39)	T403A	probably benign	Het
Plaa	T	C	4: 94,458,042 (GRCm39)	I643V	probably benign	Het
Slc28a2b	T	C	2: 122,344,895 (GRCm39)	L167P	possibly damaging	Het
Stau1	T	C	2: 166,796,936 (GRCm39)	I154V	possibly damaging	Het
Ugcg	T	G	4: 59,213,922 (GRCm39)	V168G	probably damaging	Het
Vmn2r2	T	C	3: 64,042,053 (GRCm39)	I221V	probably benign	Het
Wdr93	T	C	7: 79,402,241 (GRCm39)	I180T	possibly damaging	Het
Whamm	G	C	7: 81,221,532 (GRCm39)	G155R	probably damaging	Het
Wnt5a	T	A	14: 28,235,140 (GRCm39)	Y41*	probably null	Het

Other mutations in Mfsd14a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03189:Mfsd14a	APN	3	116,435,504 (GRCm39)	missense	probably benign	0.16
IGL03197:Mfsd14a	APN	3	116,430,012 (GRCm39)	missense	probably benign	0.01
R1166:Mfsd14a	UTSW	3	116,427,543 (GRCm39)	unclassified	probably benign
R1796:Mfsd14a	UTSW	3	116,428,596 (GRCm39)	missense	probably damaging	1.00
R1842:Mfsd14a	UTSW	3	116,426,057 (GRCm39)	missense	possibly damaging	0.93
R1871:Mfsd14a	UTSW	3	116,434,969 (GRCm39)	missense	probably benign	0.11
R2155:Mfsd14a	UTSW	3	116,441,479 (GRCm39)	missense	probably damaging	1.00
R2176:Mfsd14a	UTSW	3	116,426,042 (GRCm39)	missense	probably benign	0.00
R4451:Mfsd14a	UTSW	3	116,456,127 (GRCm39)	start codon destroyed	probably null	0.77
R4794:Mfsd14a	UTSW	3	116,439,155 (GRCm39)	intron	probably benign
R5197:Mfsd14a	UTSW	3	116,442,150 (GRCm39)	intron	probably benign
R5868:Mfsd14a	UTSW	3	116,427,399 (GRCm39)	missense	probably benign
R7098:Mfsd14a	UTSW	3	116,435,361 (GRCm39)	missense	probably benign	0.22
R7603:Mfsd14a	UTSW	3	116,427,532 (GRCm39)	missense	probably damaging	0.97
R7836:Mfsd14a	UTSW	3	116,442,200 (GRCm39)	missense	possibly damaging	0.95
R9229:Mfsd14a	UTSW	3	116,439,118 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- CCAGGGTCTCAGAAAAGGAC -3'
(R):5'- ACAGATGATTTCCTTAGCCAACC -3'

Sequencing Primer
(F):5'- CATTGGGAGAGCACCAGC -3'
(R):5'- GATGATTTCCTTAGCCAACCTAAAG -3'

Posted On

2015-02-05