Mutagenetix > Incidental Mutation

Incidental Mutation 'R1871:Mfsd14a'

210719

Institutional Source

Beutler Lab

Gene Symbol

Mfsd14a

Ensembl Gene

ENSMUSG00000089911

Gene Name

major facilitator superfamily domain containing 14A

Synonyms

Hiat1

MMRRC Submission

039893-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.528) question?

Stock #

R1871 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116424813-116456264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116434969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 249 (I249T)

Ref Sequence

ENSEMBL: ENSMUSP00000029570 (fasta)

Gene Model

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

AlphaFold

P70187

Predicted Effect

probably benign
Transcript: ENSMUST00000029570
AA Change: I249T

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000029570
Gene: ENSMUSG00000089911
AA Change: I249T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196274

Meta Mutation Damage Score

0.7242

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.2%

Validation Efficiency

97% (87/90)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930009A15Rik	A	G	10: 115,415,699 (GRCm39)		probably null	Het
Abca13	A	T	11: 9,242,134 (GRCm39)	E1332D	probably benign	Het
Abce1	G	A	8: 80,411,897 (GRCm39)	Q588*	probably null	Het
Acads	A	T	5: 115,255,701 (GRCm39)	C45S	probably damaging	Het
Adam34l	A	T	8: 44,078,132 (GRCm39)	Y697*	probably null	Het
Adamts12	T	C	15: 11,311,240 (GRCm39)	S1166P	probably benign	Het
Ano4	T	A	10: 88,828,889 (GRCm39)	I517F	probably damaging	Het
Arpc1a	T	A	5: 145,043,901 (GRCm39)	C344S	possibly damaging	Het
Blk	A	T	14: 63,613,364 (GRCm39)	S381R	possibly damaging	Het
Capn15	C	A	17: 26,183,203 (GRCm39)	W426L	probably damaging	Het
Chd6	T	C	2: 160,832,176 (GRCm39)	T999A	probably damaging	Het
Clca3a2	A	G	3: 144,503,398 (GRCm39)	Y851H	probably benign	Het
Crp	T	A	1: 172,526,172 (GRCm39)	W86R	possibly damaging	Het
Ctnnal1	G	A	4: 56,812,534 (GRCm39)	L705F	probably benign	Het
Cyp2c66	A	G	19: 39,151,858 (GRCm39)	D191G	possibly damaging	Het
Cyp4f37	A	G	17: 32,853,639 (GRCm39)	D441G	probably damaging	Het
D130040H23Rik	T	A	8: 69,755,354 (GRCm39)	I253N	probably benign	Het
Dnah5	T	A	15: 28,331,859 (GRCm39)	Y2148*	probably null	Het
Eef1g	A	T	19: 8,955,330 (GRCm39)	D393V	possibly damaging	Het
Elapor2	A	G	5: 9,468,007 (GRCm39)	E225G	probably damaging	Het
Ephx2	A	T	14: 66,322,183 (GRCm39)	I538N	probably damaging	Het
Fat4	T	A	3: 39,035,221 (GRCm39)	S2958T	possibly damaging	Het
Foxi1	A	T	11: 34,157,937 (GRCm39)	N29K	possibly damaging	Het
Gm10287	G	T	3: 148,930,373 (GRCm39)		noncoding transcript	Het
Gm10801	G	T	2: 98,494,185 (GRCm39)	S109I	probably benign	Het
Gmcl1	T	C	6: 86,674,498 (GRCm39)	D460G	probably benign	Het
Gpr158	A	G	2: 21,820,426 (GRCm39)	D641G	probably damaging	Het
Heph	C	A	X: 95,542,690 (GRCm39)	S561Y	probably benign	Het
Hgfac	A	G	5: 35,200,257 (GRCm39)	*90W	probably null	Het
Hp1bp3	C	G	4: 137,949,497 (GRCm39)	P65R	probably damaging	Het
Ighv6-4	T	A	12: 114,370,221 (GRCm39)	Y58F	probably benign	Het
Jrk	T	C	15: 74,578,412 (GRCm39)	D291G	possibly damaging	Het
Kdm4d	A	G	9: 14,375,679 (GRCm39)	Y60H	probably damaging	Het
Khdrbs3	T	C	15: 68,921,291 (GRCm39)	Y203H	probably damaging	Het
Klhl6	A	T	16: 19,775,793 (GRCm39)	V255D	possibly damaging	Het
Krt9	C	T	11: 100,081,614 (GRCm39)	R305H	probably damaging	Het
Lama2	T	G	10: 26,860,490 (GRCm39)	N2999T	probably damaging	Het
Letm2	A	G	8: 26,086,460 (GRCm39)		probably benign	Het
Lipa	A	T	19: 34,488,328 (GRCm39)	L106Q	probably damaging	Het
Llph	A	T	10: 120,067,141 (GRCm39)	N86I	probably damaging	Het
Lyst	T	A	13: 13,826,297 (GRCm39)	N1601K	probably benign	Het
Mc1r	T	A	8: 124,134,275 (GRCm39)	S9R	probably benign	Het
Mtfp1	G	A	11: 4,044,012 (GRCm39)	R73C	probably benign	Het
Myo1a	A	G	10: 127,555,540 (GRCm39)	Q877R	probably benign	Het
Nalcn	A	C	14: 123,831,965 (GRCm39)	V103G	possibly damaging	Het
Ndst3	A	T	3: 123,355,673 (GRCm39)	F119I	probably damaging	Het
Or8k16	A	G	2: 85,520,655 (GRCm39)	N294S	probably damaging	Het
Patl1	T	C	19: 11,902,596 (GRCm39)		probably benign	Het
Pcdhb2	A	T	18: 37,430,408 (GRCm39)		probably null	Het
Pcdhb22	A	C	18: 37,652,200 (GRCm39)	T223P	probably damaging	Het
Pcdhga1	T	A	18: 37,973,143 (GRCm39)	N907K	probably damaging	Het
Pfas	T	C	11: 68,882,795 (GRCm39)	D782G	probably damaging	Het
Plpp6	T	C	19: 28,941,684 (GRCm39)	F95S	probably damaging	Het
Polr2b	T	A	5: 77,474,374 (GRCm39)		probably benign	Het
Qars1	T	G	9: 108,391,315 (GRCm39)		probably null	Het
Ranbp2	A	G	10: 58,328,383 (GRCm39)	I2800V	probably damaging	Het
Rnf213	T	C	11: 119,340,955 (GRCm39)	V3532A	probably benign	Het
Rubcnl	T	C	14: 75,279,849 (GRCm39)	S411P	possibly damaging	Het
Scn1a	C	A	2: 66,148,369 (GRCm39)	G1059W	probably damaging	Het
Sgms1	C	T	19: 32,137,282 (GRCm39)	V95I	probably benign	Het
Siglecf	A	G	7: 43,004,967 (GRCm39)	N399S	probably benign	Het
Slc29a4	T	C	5: 142,707,243 (GRCm39)	*529R	probably null	Het
Slfn9	G	T	11: 82,872,402 (GRCm39)	T778N	probably benign	Het
Sorl1	G	A	9: 41,881,021 (GRCm39)	Q2167*	probably null	Het
Stkld1	A	G	2: 26,827,985 (GRCm39)		probably benign	Het
Taar8b	T	C	10: 23,967,900 (GRCm39)	Y98C	probably damaging	Het
Tecta	G	A	9: 42,248,472 (GRCm39)	L1977F	probably damaging	Het
Tecta	G	C	9: 42,248,636 (GRCm39)	T1917R	probably damaging	Het
Topaz1	T	A	9: 122,628,544 (GRCm39)	S1544T	probably benign	Het
Tpx2	T	C	2: 152,735,523 (GRCm39)	I717T	probably damaging	Het
Tyk2	A	T	9: 21,032,737 (GRCm39)	V342E	probably damaging	Het
Ube4a	A	T	9: 44,856,235 (GRCm39)		probably null	Het
Unc80	A	T	1: 66,549,876 (GRCm39)	R711S	possibly damaging	Het
Ush2a	C	A	1: 188,558,665 (GRCm39)	D3631E	probably benign	Het
Usp34	A	G	11: 23,314,479 (GRCm39)	H807R	probably benign	Het
Vps13a	T	C	19: 16,642,028 (GRCm39)	T2200A	probably benign	Het
Wif1	A	G	10: 120,920,824 (GRCm39)	I215M	probably benign	Het
Wnk1	T	C	6: 119,928,050 (GRCm39)	T1134A	probably damaging	Het
Xxylt1	A	G	16: 30,776,235 (GRCm39)	V367A	probably damaging	Het
Zfp735	A	T	11: 73,601,412 (GRCm39)	K119*	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
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

Predicted Primers

PCR Primer
(F):5'- TAAACGTGTTGTGGGGCAGT -3'
(R):5'- CTTCTCTCTGGATGCTTGGG -3'

Sequencing Primer
(F):5'- CATAGATGGTACCACTCTGGAGC -3'
(R):5'- GGAGATCACTCTGTATCAGCC -3'

Posted On

2014-06-30