Mutagenetix > Incidental Mutation

Incidental Mutation 'R9229:Mfsd14a'

700077

Institutional Source

Beutler Lab

Gene Symbol

Mfsd14a

Ensembl Gene

ENSMUSG00000089911

Gene Name

major facilitator superfamily domain containing 14A

Synonyms

Hiat1

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.528) question?

Stock #

R9229 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116424813-116456264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 116439118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 128 (A128V)

Ref Sequence

ENSEMBL: ENSMUSP00000029570 (fasta)

Gene Model

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

AlphaFold

P70187

Predicted Effect

probably benign
Transcript: ENSMUST00000029570
AA Change: A128V

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000029570
Gene: ENSMUSG00000089911
AA Change: A128V

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

SMART Domains

Protein: ENSMUSP00000114952
Gene: ENSMUSG00000105103
AA Change: A191V

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (77/79)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr10	A	G	12: 70,990,259 (GRCm39)	T104A	probably damaging	Het
Agbl1	G	A	7: 76,774,270 (GRCm39)	V1065I	unknown	Het
Agpat1	G	T	17: 34,830,663 (GRCm39)	V196L	probably null	Het
Agxt2	T	A	15: 10,409,597 (GRCm39)	V499E	probably damaging	Het
Amy2a1	T	A	3: 113,325,955 (GRCm39)		probably benign	Het
Ankrd35	A	G	3: 96,592,215 (GRCm39)	T834A	probably benign	Het
Arhgef18	T	A	8: 3,479,314 (GRCm39)	S51T	probably benign	Het
Armc12	A	C	17: 28,751,345 (GRCm39)	D113A	probably benign	Het
Azin1	T	A	15: 38,490,646 (GRCm39)	I436F	probably benign	Het
B3galnt2	T	C	13: 14,166,107 (GRCm39)	V334A	probably damaging	Het
Ccdc68	C	T	18: 70,080,203 (GRCm39)	H183Y	probably benign	Het
Cd180	TA	TAA	13: 102,841,514 (GRCm39)		probably null	Het
Cemip	A	T	7: 83,606,833 (GRCm39)	W795R	probably damaging	Het
Cenpj	C	T	14: 56,802,176 (GRCm39)	E130K	possibly damaging	Het
Ciao1	G	C	2: 127,089,062 (GRCm39)	C52W	probably damaging	Het
Cmya5	A	G	13: 93,232,176 (GRCm39)	S971P	possibly damaging	Het
Cnot2	A	T	10: 116,384,960 (GRCm39)	L9*	probably null	Het
Coro1c	G	T	5: 114,003,747 (GRCm39)	H91N	probably damaging	Het
Crbn	A	T	6: 106,777,017 (GRCm39)	M1K	probably null	Het
Ctsb	T	A	14: 63,373,112 (GRCm39)	W90R	probably damaging	Het
Ctse	A	G	1: 131,595,862 (GRCm39)	I185V	probably damaging	Het
Dennd1b	G	T	1: 138,981,100 (GRCm39)	E105*	probably null	Het
Eif4a3l1	A	G	6: 136,306,141 (GRCm39)	I201V	possibly damaging	Het
Exoc5	G	A	14: 49,251,710 (GRCm39)	Q679*	probably null	Het
Firrm	A	T	1: 163,794,659 (GRCm39)	W512R	probably damaging	Het
Gabrg3	G	A	7: 56,374,268 (GRCm39)	R433C	probably damaging	Het
Gria2	C	A	3: 80,709,689 (GRCm39)	M1I	probably null	Het
H1f6	T	C	13: 23,880,029 (GRCm39)	S61P	probably damaging	Het
Hoxb6	A	T	11: 96,191,645 (GRCm39)	Q189L	probably damaging	Het
Hoxd10	A	G	2: 74,524,600 (GRCm39)	N304S	possibly damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Htra4	A	T	8: 25,528,557 (GRCm39)	C112S	probably damaging	Het
Ide	T	C	19: 37,261,598 (GRCm39)	T715A		Het
Ipo13	A	T	4: 117,758,801 (GRCm39)	I688N	probably damaging	Het
Irs2	A	C	8: 11,057,400 (GRCm39)	L344R	probably damaging	Het
Kat6a	A	G	8: 23,429,987 (GRCm39)	T1781A	unknown	Het
Lin7a	G	T	10: 107,247,844 (GRCm39)	V172L	probably damaging	Het
Lpcat1	G	T	13: 73,653,650 (GRCm39)	E282D	probably damaging	Het
Mcf2l	A	G	8: 13,063,584 (GRCm39)	T963A	probably benign	Het
Mfsd6	C	G	1: 52,747,903 (GRCm39)	G321R	probably damaging	Het
Mill2	C	T	7: 18,590,475 (GRCm39)	T185I	probably damaging	Het
Mpped1	C	T	15: 83,738,673 (GRCm39)	T270I	possibly damaging	Het
Mrtfb	G	T	16: 13,230,185 (GRCm39)	A957S	possibly damaging	Het
Myh9	T	A	15: 77,675,017 (GRCm39)	Y300F	possibly damaging	Het
Nlrp2	T	A	7: 5,304,052 (GRCm39)	T953S	possibly damaging	Het
Nlrp4e	T	A	7: 23,020,799 (GRCm39)	S429T	probably benign	Het
Nphp3	T	A	9: 103,913,376 (GRCm39)	Y1003N	probably damaging	Het
Nrap	T	C	19: 56,310,339 (GRCm39)	K1588R	probably benign	Het
Odad2	C	A	18: 7,127,324 (GRCm39)	R963L	possibly damaging	Het
Or10ag56	G	A	2: 87,139,165 (GRCm39)	V31I	probably benign	Het
Or5b124	T	A	19: 13,611,414 (GRCm39)	V313D	probably damaging	Het
Pam	A	G	1: 97,753,660 (GRCm39)	V870A	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pierce1	C	A	2: 28,352,390 (GRCm39)	M124I	probably damaging	Het
Plin3	A	T	17: 56,591,315 (GRCm39)	V155E	probably damaging	Het
Pmepa1	T	C	2: 173,117,962 (GRCm39)	T6A	probably benign	Het
Pnpla7	G	A	2: 24,873,503 (GRCm39)	V170I	probably damaging	Het
Pramel34	A	T	5: 93,784,089 (GRCm39)	C458*	probably null	Het
Ptprz1	A	G	6: 22,986,283 (GRCm39)	H361R	probably null	Het
Pvalb	T	A	15: 78,086,767 (GRCm39)	I50F	possibly damaging	Het
Relch	A	T	1: 105,614,709 (GRCm39)	I218F	possibly damaging	Het
Rhag	G	A	17: 41,142,081 (GRCm39)	A175T	probably damaging	Het
Slc24a4	T	C	12: 102,200,983 (GRCm39)	V291A	possibly damaging	Het
Slc9b2	G	A	3: 135,042,295 (GRCm39)	E525K	probably benign	Het
Smg7	A	G	1: 152,720,971 (GRCm39)	F747S	possibly damaging	Het
Sorcs1	T	G	19: 50,141,300 (GRCm39)	I1144L	probably benign	Het
Sox1	A	T	8: 12,447,390 (GRCm39)	I344F	possibly damaging	Het
Speer4e2	A	T	5: 15,027,718 (GRCm39)	S53T	probably benign	Het
Spta1	A	T	1: 174,067,750 (GRCm39)	E2059V	probably damaging	Het
Sva	T	A	6: 42,017,050 (GRCm39)	N52K	possibly damaging	Het
Sva	T	A	6: 42,017,052 (GRCm39)	M53K	probably benign	Het
Thsd7b	A	G	1: 129,849,027 (GRCm39)	Y913C	probably damaging	Het
Tiam1	A	G	16: 89,634,719 (GRCm39)	S864P	possibly damaging	Het
Tma16	A	G	8: 66,936,779 (GRCm39)	V16A	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Treml1	A	G	17: 48,673,774 (GRCm39)	S262G	probably benign	Het
Ttn	A	T	2: 76,597,797 (GRCm39)	D19705E	probably benign	Het
Utp20	A	G	10: 88,594,239 (GRCm39)	L2162P	possibly damaging	Het
Vmn2r60	A	G	7: 41,791,723 (GRCm39)	I549V	possibly damaging	Het
Xpo4	T	C	14: 57,851,156 (GRCm39)	N329S	probably benign	Het
Zfp879	T	A	11: 50,723,886 (GRCm39)	H390L	probably damaging	Het
Zranb1	C	T	7: 132,583,117 (GRCm39)	S512F	probably damaging	Het
Zswim8	A	G	14: 20,766,393 (GRCm39)	H847R	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
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

Predicted Primers

PCR Primer
(F):5'- GCAGAAAGGGACACTTACTACAGAC -3'
(R):5'- ATTCTCTAGAGAGGCTGAGCTG -3'

Sequencing Primer
(F):5'- GGGACACTTACTACAGACATTTTAC -3'
(R):5'- ACATTTTCGCAGTAACTGGCCTAG -3'

Posted On

2022-02-07