Mutagenetix > Incidental Mutation

Incidental Mutation 'R5868:Mfsd14a'

454264

Institutional Source

Beutler Lab

Gene Symbol

Mfsd14a

Ensembl Gene

ENSMUSG00000089911

Gene Name

major facilitator superfamily domain containing 14A

Synonyms

Hiat1

MMRRC Submission

044076-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.548) question?

Stock #

R5868 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116424813-116456264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116427399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 413 (N413S)

Ref Sequence

ENSEMBL: ENSMUSP00000029570 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029570] [ENSMUST00000029571] [ENSMUST00000197335] [ENSMUST00000198311]

AlphaFold

P70187

Predicted Effect

probably benign
Transcript: ENSMUST00000029570
AA Change: N413S

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

SMART Domains

Protein: ENSMUSP00000029570
Gene: ENSMUSG00000089911
AA Change: N413S

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

probably benign
Transcript: ENSMUST00000029571

SMART Domains

Protein: ENSMUSP00000029571
Gene: ENSMUSG00000027959

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:SAS-6_N	44	141	1.7e-29	PFAM
low complexity region	223	235	N/A	INTRINSIC
coiled coil region	415	471	N/A	INTRINSIC
low complexity region	632	644	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196274

Predicted Effect

probably benign
Transcript: ENSMUST00000197335

SMART Domains

Protein: ENSMUSP00000143123
Gene: ENSMUSG00000027959

Domain	Start	End	E-Value	Type
PDB:2Y3W\|C	7	136	3e-48	PDB
low complexity region	188	200	N/A	INTRINSIC
coiled coil region	380	436	N/A	INTRINSIC
low complexity region	597	609	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197572

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198035

Predicted Effect

probably benign
Transcript: ENSMUST00000198311

SMART Domains

Protein: ENSMUSP00000143233
Gene: ENSMUSG00000027959

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
PDB:2Y3W\|C	15	171	9e-62	PDB
low complexity region	223	235	N/A	INTRINSIC
coiled coil region	415	471	N/A	INTRINSIC
low complexity region	632	644	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198747

Meta Mutation Damage Score

0.0711

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.2%
20x: 90.8%

Validation Efficiency

95% (58/61)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	C	A	11: 69,788,401 (GRCm39)	K394N	possibly damaging	Het
Adamts18	T	A	8: 114,504,380 (GRCm39)	Q80L	possibly damaging	Het
Apbb2	T	A	5: 66,609,439 (GRCm39)	K69N	probably damaging	Het
Ascc3	C	T	10: 50,718,279 (GRCm39)	R1991*	probably null	Het
BC035947	T	A	1: 78,474,960 (GRCm39)	N524I	probably damaging	Het
Bpifa1	A	G	2: 153,985,796 (GRCm39)	N37S	unknown	Het
Cfap91	T	A	16: 38,152,604 (GRCm39)	D202V	probably damaging	Het
Crnkl1	A	T	2: 145,760,473 (GRCm39)	D648E	probably benign	Het
Cul5	C	A	9: 53,569,973 (GRCm39)	G86V	probably benign	Het
Cyfip1	A	C	7: 55,576,061 (GRCm39)	D1077A	probably damaging	Het
Dennd4a	T	C	9: 64,804,011 (GRCm39)	S1117P	probably benign	Het
Dnaaf8	T	C	16: 4,791,932 (GRCm39)		noncoding transcript	Het
Elmo2	A	T	2: 165,136,192 (GRCm39)	M618K	possibly damaging	Het
Fggy	A	G	4: 95,585,225 (GRCm39)	T35A	probably damaging	Het
Gad2	G	A	2: 22,575,079 (GRCm39)		probably null	Het
Gtf3c2	A	C	5: 31,325,425 (GRCm39)	F455V	possibly damaging	Het
H4c16	C	T	6: 136,781,292 (GRCm39)	G29D	probably damaging	Het
Hacl1	C	A	14: 31,341,873 (GRCm39)	A311S	probably damaging	Het
Kat6b	G	A	14: 21,684,547 (GRCm39)	D611N	probably damaging	Het
Kifap3	T	C	1: 163,693,041 (GRCm39)	I611T	probably damaging	Het
Lrba	A	G	3: 86,226,911 (GRCm39)	Y683C	probably damaging	Het
Mtmr11	T	A	3: 96,078,518 (GRCm39)	D691E	possibly damaging	Het
Mzf1	A	T	7: 12,787,116 (GRCm39)	F64I	probably benign	Het
Neu2	G	T	1: 87,524,478 (GRCm39)	Q154H	probably damaging	Het
Nid1	T	C	13: 13,663,742 (GRCm39)		probably null	Het
Nod1	C	A	6: 54,916,312 (GRCm39)	K128N	probably damaging	Het
Noxred1	T	A	12: 87,270,976 (GRCm39)	Q215L	possibly damaging	Het
Npat	A	G	9: 53,481,424 (GRCm39)	E1044G	probably damaging	Het
Npr1	A	G	3: 90,366,800 (GRCm39)		probably benign	Het
Pdcd6	T	C	13: 74,452,133 (GRCm39)	D169G	probably damaging	Het
Pld3	G	T	7: 27,237,093 (GRCm39)	T262N	probably benign	Het
Plxna1	T	C	6: 89,299,704 (GRCm39)		probably benign	Het
Prh1	A	G	6: 132,549,174 (GRCm39)	Q227R	unknown	Het
Prtg	C	A	9: 72,716,999 (GRCm39)	Y113*	probably null	Het
Rbm27	T	A	18: 42,433,450 (GRCm39)	V242E	possibly damaging	Het
Ripor1	T	C	8: 106,342,636 (GRCm39)	L198P	probably damaging	Het
Rnpc3	T	C	3: 113,410,360 (GRCm39)		probably null	Het
Serpinf2	T	C	11: 75,324,065 (GRCm39)	T321A	probably benign	Het
Sh3gl1	T	C	17: 56,326,119 (GRCm39)	D129G	probably damaging	Het
Slc12a2	C	A	18: 58,077,068 (GRCm39)	P1189Q	probably damaging	Het
Slc16a9	T	C	10: 70,118,320 (GRCm39)	M213T	probably benign	Het
Spata31f3	A	T	4: 42,871,711 (GRCm39)	D221E	probably damaging	Het
Svil	G	A	18: 5,056,854 (GRCm39)		probably null	Het
Synpo	A	G	18: 60,737,118 (GRCm39)	L37P	probably damaging	Het
Tmprss9	A	G	10: 80,718,580 (GRCm39)	H87R	probably benign	Het
Tmtc1	A	T	6: 148,139,353 (GRCm39)	L885Q	probably damaging	Het
Ttc41	T	C	10: 86,586,128 (GRCm39)	S811P	possibly damaging	Het
Vmn2r23	T	C	6: 123,689,901 (GRCm39)	V259A	probably benign	Het
Wwox	T	A	8: 115,406,586 (GRCm39)	H192Q	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
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
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
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'- TCGGGAAGAATAGTCTCTTAGGC -3'
(R):5'- ACTGATGGCGTCTCAGTAGC -3'

Sequencing Primer
(F):5'- ATTGAACTCAGGACCTTCGG -3'
(R):5'- GGCGTCTCAGTAGCATTTAATACC -3'

Posted On

2017-02-10