Mutagenetix > Incidental Mutations

Incidental Mutation 'R8126:Mfsd4b2'

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631771

Institutional Source

Beutler Lab

Gene Symbol

Mfsd4b2

Ensembl Gene

ENSMUSG00000039339

Gene Name

major facilitator superfamily domain containing 4B2

Synonyms

2010001E11Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R8126 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39920382-39926923 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39921988 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 124 (S124P)

Ref Sequence

ENSEMBL: ENSMUSP00000040384 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045526]

Predicted Effect

probably benign
Transcript: ENSMUST00000045526
AA Change: S124P

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

SMART Domains

Protein: ENSMUSP00000040384
Gene: ENSMUSG00000039339
AA Change: S124P

Domain	Start	End	E-Value	Type
Pfam:MFS_1	1	322	3.9e-11	PFAM
transmembrane domain	335	357	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.0%
20x: 97.3%

Validation Efficiency

95% (42/44)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,440,225	V4414E	possibly damaging	Het
Aplp1	T	A	7: 30,441,739	D299V	probably damaging	Het
Atad2	T	C	15: 58,105,591	I841M	probably benign	Het
BC067074	T	A	13: 113,368,163	I1942N		Het
Bdp1	T	C	13: 100,056,282	E1348G	probably damaging	Het
Cacna1a	A	G	8: 84,633,252	T1948A	probably benign	Het
Cdh12	T	C	15: 21,558,307	Y431H	probably benign	Het
Cfap74	C	A	4: 155,427,374	D446E		Het
Clpsl2	G	A	17: 28,550,728	G55R	probably damaging	Het
Col4a4	T	C	1: 82,453,286	T1632A	unknown	Het
Csnk2a2	G	A	8: 95,455,947	P296L		Het
Cstl1	A	G	2: 148,754,671	E98G	probably benign	Het
Ddx49	A	T	8: 70,295,596	I303N	probably damaging	Het
Ddx60	C	T	8: 61,983,911	A965V	probably benign	Het
Evl	C	T	12: 108,681,524	R295*	probably null	Het
Gm13083	T	A	4: 143,617,065	C312S	possibly damaging	Het
Gm14295	A	G	2: 176,810,865	D716G	probably benign	Het
Gsap	T	A	5: 21,270,012	H556Q	probably benign	Het
Hsp90b1	T	C	10: 86,694,382	I538V	probably damaging	Het
Ighv1-49	C	T	12: 115,055,610		probably benign	Het
Lrrk1	T	C	7: 66,292,315	N725S	probably damaging	Het
Ncoa1	A	T	12: 4,290,951	L827Q	probably damaging	Het
Ncor2	T	C	5: 125,106,204	N59D	unknown	Het
Nfkbid	T	A	7: 30,424,374	S120T	probably benign	Het
Nktr	T	C	9: 121,746,448	Y341H	probably damaging	Het
Npat	T	C	9: 53,552,334	V139A	probably benign	Het
Olfr290	T	A	7: 84,915,906	N42K	probably damaging	Het
Plxnb2	T	C	15: 89,163,303	D721G	probably benign	Het
Ppl	C	T	16: 5,088,861	R1190H	probably damaging	Het
Ppp3ca	T	A	3: 136,903,191	D348E	probably damaging	Het
Rnf146	T	C	10: 29,347,376	I171M	probably damaging	Het
Snrpa	G	T	7: 27,192,948	F62L	possibly damaging	Het
Spata3	C	T	1: 86,024,353	R110C	unknown	Het
Tbc1d2b	T	C	9: 90,222,316	H591R	probably benign	Het
Tnfsf8	T	G	4: 63,834,186	D214A	possibly damaging	Het
Trdmt1	C	T	2: 13,520,005	R213H	probably benign	Het
Uspl1	C	T	5: 149,214,620	L877F	probably damaging	Het
Vmn1r22	C	A	6: 57,900,684	V103F	possibly damaging	Het
Vmn2r102	T	C	17: 19,660,450	S18P	probably benign	Het
Vmn2r-ps117	A	T	17: 18,822,552	Y74F	probably benign	Het
Wdr90	A	G	17: 25,848,977	F1429S	possibly damaging	Het
Zdhhc20	C	A	14: 57,846,945	V238F	probably damaging	Het

Other mutations in Mfsd4b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Mfsd4b2	APN	10	39925061	splice site	probably benign
IGL01546:Mfsd4b2	APN	10	39921475	missense	probably damaging	1.00
IGL01662:Mfsd4b2	APN	10	39922197	splice site	probably benign
IGL02151:Mfsd4b2	APN	10	39921691	missense	probably damaging	1.00
R1928:Mfsd4b2	UTSW	10	39921462	missense	probably damaging	1.00
R2851:Mfsd4b2	UTSW	10	39922123	missense	probably benign	0.07
R3777:Mfsd4b2	UTSW	10	39921531	missense	possibly damaging	0.54
R5055:Mfsd4b2	UTSW	10	39923777	missense	possibly damaging	0.79
R5257:Mfsd4b2	UTSW	10	39922021	missense	probably benign	0.00
R5258:Mfsd4b2	UTSW	10	39922021	missense	probably benign	0.00
R5563:Mfsd4b2	UTSW	10	39922042	missense	probably benign	0.15
R5728:Mfsd4b2	UTSW	10	39923795	missense	possibly damaging	0.47
R5888:Mfsd4b2	UTSW	10	39922035	missense	probably benign	0.00
R6147:Mfsd4b2	UTSW	10	39921577	missense	probably benign
R6362:Mfsd4b2	UTSW	10	39921609	missense	probably damaging	1.00
R7462:Mfsd4b2	UTSW	10	39921881	missense	probably benign	0.03
R7801:Mfsd4b2	UTSW	10	39923781	missense	probably benign	0.00
R8158:Mfsd4b2	UTSW	10	39922068	missense	probably benign	0.35
Z1176:Mfsd4b2	UTSW	10	39921600	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GTAAGAGCCGTATGTTATCTCAGC -3'
(R):5'- AAGGAGCCCCACATATGCAG -3'

Sequencing Primer
(F):5'- CATAGCAGGGCCCTGTGATATTTAG -3'
(R):5'- CCCACATATGCAGGCCTTG -3'

Posted On

2020-06-30