Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03197:Mfsd14a'

412859

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

Essential gene?

Possibly essential (E-score: 0.548) question?

Stock #

IGL03197

Quality Score

Status

Chromosome

Chromosomal Location

116424813-116456264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 116430012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 307 (S307A)

Ref Sequence

ENSEMBL: ENSMUSP00000029570 (fasta)

Gene Model

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

AlphaFold

P70187

Predicted Effect

probably benign
Transcript: ENSMUST00000029570
AA Change: S307A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000029570
Gene: ENSMUSG00000089911
AA Change: S307A

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: ENSMUST00000196274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197572

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	A	G	8: 117,698,541 (GRCm39)	W189R	probably damaging	Het
Abcb7	A	T	X: 103,327,797 (GRCm39)	M704K	possibly damaging	Het
Anp32e	A	G	3: 95,844,364 (GRCm39)	D71G	probably damaging	Het
Asphd1	T	C	7: 126,545,298 (GRCm39)	D353G	probably damaging	Het
Baz2b	T	C	2: 59,731,898 (GRCm39)	K2047E	possibly damaging	Het
Cyp2c39	G	T	19: 39,555,361 (GRCm39)	V394F	probably damaging	Het
Ddx43	G	A	9: 78,325,402 (GRCm39)	M482I	probably benign	Het
Dnah2	A	T	11: 69,350,089 (GRCm39)	V2348E	probably damaging	Het
Fam135a	A	G	1: 24,083,263 (GRCm39)	F304L	probably damaging	Het
Gabra3	A	G	X: 71,583,734 (GRCm39)	I66T	possibly damaging	Het
Irf4	A	T	13: 30,947,503 (GRCm39)		probably benign	Het
Kif11	A	G	19: 37,395,475 (GRCm39)	D578G	probably benign	Het
Lrig1	A	G	6: 94,583,099 (GRCm39)	S1006P	probably benign	Het
Mill1	A	G	7: 17,998,590 (GRCm39)	T267A	probably benign	Het
Nfyc	C	A	4: 120,630,958 (GRCm39)	D62Y	probably damaging	Het
Nin	T	C	12: 70,073,584 (GRCm39)	T1190A	probably benign	Het
Nup42	T	C	5: 24,372,463 (GRCm39)	S84P	probably damaging	Het
Ociad1	T	C	5: 73,451,675 (GRCm39)	S15P	probably benign	Het
Or4c104	A	T	2: 88,586,545 (GRCm39)	I158K	probably damaging	Het
Or6c69c	A	T	10: 129,910,548 (GRCm39)	I90F	probably damaging	Het
Or7g25	A	G	9: 19,160,098 (GRCm39)	I199T	probably benign	Het
Pcdhb11	T	A	18: 37,555,477 (GRCm39)	L269*	probably null	Het
Pigo	A	C	4: 43,022,103 (GRCm39)	M352R	possibly damaging	Het
Plch1	T	C	3: 63,660,591 (GRCm39)	M343V	probably damaging	Het
Podnl1	G	A	8: 84,858,818 (GRCm39)	V548I	probably benign	Het
Prkag1	A	G	15: 98,713,058 (GRCm39)		probably benign	Het
Rasa4	A	G	5: 136,130,866 (GRCm39)	K379R	probably damaging	Het
Rraga	G	A	4: 86,494,513 (GRCm39)	A120T	probably damaging	Het
Serpina3a	C	T	12: 104,082,500 (GRCm39)	A91V	probably damaging	Het
Sik2	T	C	9: 50,807,073 (GRCm39)	E779G	probably damaging	Het
Slc15a3	T	G	19: 10,832,443 (GRCm39)		probably null	Het
Smc1b	C	T	15: 84,955,064 (GRCm39)	D1063N	possibly damaging	Het
Speer1e	T	G	5: 11,233,080 (GRCm39)	N14K	probably damaging	Het
Speer1k	T	A	5: 11,000,501 (GRCm39)		probably benign	Het
Srsf12	G	A	4: 33,231,040 (GRCm39)	G183E	probably damaging	Het
Taf8	A	G	17: 47,809,127 (GRCm39)	S112P	probably benign	Het
Trhde	A	G	10: 114,249,213 (GRCm39)	L851P	probably benign	Het
Wapl	G	T	14: 34,467,588 (GRCm39)	V1182F	possibly damaging	Het
Zfp326	A	G	5: 106,039,059 (GRCm39)	I231V	probably benign	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
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
R3078:Mfsd14a	UTSW	3	116,441,566 (GRCm39)	splice site	probably benign
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

Posted On

2016-08-02