Mutagenetix > Incidental Mutation

Incidental Mutation 'R7801:Mfsd4b2'

600540

Institutional Source

Beutler Lab

Gene Symbol

Mfsd4b2

Ensembl Gene

ENSMUSG00000039339

Gene Name

major facilitator superfamily domain containing 4B2

Synonyms

2010001E11Rik, Mfsd4b2, Mfsd4b2-ps

MMRRC Submission

045856-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R7801 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39796956-39802945 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39799777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 42 (M42L)

Ref Sequence

ENSEMBL: ENSMUSP00000040384 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000045526
AA Change: M42L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000040384
Gene: ENSMUSG00000039339
AA Change: M42L

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

Meta Mutation Damage Score

0.0864

Coding Region Coverage

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

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	A	G	1: 89,558,207 (GRCm39)	Y165C	probably damaging	Het
Agbl3	A	T	6: 34,816,300 (GRCm39)	T742S	probably benign	Het
Arhgef10l	T	C	4: 140,271,578 (GRCm39)	T651A	probably benign	Het
Arsb	T	A	13: 93,998,835 (GRCm39)	I381N	probably damaging	Het
Blzf1	A	G	1: 164,123,478 (GRCm39)	V283A	probably benign	Het
Cadps	C	T	14: 12,489,476 (GRCm38)		probably null	Het
Casz1	A	T	4: 149,022,706 (GRCm39)	T591S	probably damaging	Het
Ccne2	T	C	4: 11,194,079 (GRCm39)		probably null	Het
Chst9	T	C	18: 15,585,334 (GRCm39)	T410A	probably benign	Het
Ciart	G	A	3: 95,788,656 (GRCm39)	P61L	probably damaging	Het
Fam234a	T	C	17: 26,437,172 (GRCm39)	D169G	probably benign	Het
Fat1	C	T	8: 45,495,260 (GRCm39)	P4116L	probably damaging	Het
Fbxo21	G	T	5: 118,124,189 (GRCm39)	A166S	probably damaging	Het
Gbf1	A	G	19: 46,261,082 (GRCm39)	I1216V	probably benign	Het
Gper1	G	A	5: 139,412,443 (GRCm39)	A263T	probably benign	Het
Hdlbp	G	T	1: 93,358,029 (GRCm39)		probably null	Het
Ighg3	A	T	12: 113,323,436 (GRCm39)	L280Q		Het
Impa1	T	C	3: 10,386,727 (GRCm39)	T171A	probably benign	Het
Ints7	T	A	1: 191,347,859 (GRCm39)	Y744N	possibly damaging	Het
Irgc	G	T	7: 24,131,959 (GRCm39)	A286D	probably damaging	Het
Kif18a	T	C	2: 109,118,190 (GRCm39)	S2P	probably damaging	Het
Macf1	A	T	4: 123,302,064 (GRCm39)	W813R	probably damaging	Het
Mapkbp1	T	G	2: 119,842,554 (GRCm39)	H157Q	probably damaging	Het
Mon2	A	G	10: 122,895,091 (GRCm39)		probably null	Het
Myrfl	T	A	10: 116,684,240 (GRCm39)	H161L	probably benign	Het
Or2aj6	T	C	16: 19,443,373 (GRCm39)	H159R	probably damaging	Het
Or7g19	A	C	9: 18,856,555 (GRCm39)	S204R	probably damaging	Het
Phlpp2	T	G	8: 110,652,474 (GRCm39)	V606G	possibly damaging	Het
Psmb5	T	C	14: 54,854,212 (GRCm39)	T89A	probably benign	Het
Ptpn9	A	G	9: 56,968,297 (GRCm39)	T546A	probably benign	Het
Qrfprl	T	A	6: 65,418,201 (GRCm39)	V123D	probably damaging	Het
Rabep2	A	G	7: 126,037,584 (GRCm39)	M146V	possibly damaging	Het
Rptn	G	A	3: 93,305,531 (GRCm39)	E955K	possibly damaging	Het
Samd3	G	T	10: 26,139,770 (GRCm39)	V301F	possibly damaging	Het
Sh2b1	C	A	7: 126,070,464 (GRCm39)	C380F	probably benign	Het
Shank1	A	G	7: 44,001,022 (GRCm39)	M914V	unknown	Het
Sox2	G	A	3: 34,704,791 (GRCm39)	R76H	probably damaging	Het
Stat5a	T	C	11: 100,771,143 (GRCm39)	F574S	probably damaging	Het
Tbx5	A	G	5: 119,975,064 (GRCm39)	E29G	probably benign	Het
Trpm5	A	C	7: 142,638,978 (GRCm39)	D264E	probably damaging	Het
Zfp442	T	C	2: 150,251,639 (GRCm39)	S88G	probably benign	Het
Zfp62	T	A	11: 49,108,155 (GRCm39)	F749I	possibly damaging	Het
Zfp677	T	A	17: 21,618,277 (GRCm39)	S445T	probably damaging	Het
Zfp979	A	C	4: 147,698,435 (GRCm39)	N91K	probably damaging	Het
Zfyve9	A	G	4: 108,542,192 (GRCm39)	V209A	possibly damaging	Het
Zic4	G	T	9: 91,266,297 (GRCm39)	A314S	probably benign	Het

Other mutations in Mfsd4b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Mfsd4b2	APN	10	39,801,057 (GRCm39)	splice site	probably benign
IGL01546:Mfsd4b2	APN	10	39,797,471 (GRCm39)	missense	probably damaging	1.00
IGL01662:Mfsd4b2	APN	10	39,798,193 (GRCm39)	splice site	probably benign
IGL02151:Mfsd4b2	APN	10	39,797,687 (GRCm39)	missense	probably damaging	1.00
R1928:Mfsd4b2	UTSW	10	39,797,458 (GRCm39)	missense	probably damaging	1.00
R2851:Mfsd4b2	UTSW	10	39,798,119 (GRCm39)	missense	probably benign	0.07
R3777:Mfsd4b2	UTSW	10	39,797,527 (GRCm39)	missense	possibly damaging	0.54
R5055:Mfsd4b2	UTSW	10	39,799,773 (GRCm39)	missense	possibly damaging	0.79
R5257:Mfsd4b2	UTSW	10	39,798,017 (GRCm39)	missense	probably benign	0.00
R5258:Mfsd4b2	UTSW	10	39,798,017 (GRCm39)	missense	probably benign	0.00
R5563:Mfsd4b2	UTSW	10	39,798,038 (GRCm39)	missense	probably benign	0.15
R5728:Mfsd4b2	UTSW	10	39,799,791 (GRCm39)	missense	possibly damaging	0.47
R5888:Mfsd4b2	UTSW	10	39,798,031 (GRCm39)	missense	probably benign	0.00
R6147:Mfsd4b2	UTSW	10	39,797,573 (GRCm39)	missense	probably benign
R6362:Mfsd4b2	UTSW	10	39,797,605 (GRCm39)	missense	probably damaging	1.00
R7462:Mfsd4b2	UTSW	10	39,797,877 (GRCm39)	missense	probably benign	0.03
R8126:Mfsd4b2	UTSW	10	39,797,984 (GRCm39)	missense	probably benign
R8158:Mfsd4b2	UTSW	10	39,798,064 (GRCm39)	missense	probably benign	0.35
R8677:Mfsd4b2	UTSW	10	39,799,805 (GRCm39)	missense	probably benign	0.00
R9013:Mfsd4b2	UTSW	10	39,798,062 (GRCm39)	missense	probably benign	0.05
Z1176:Mfsd4b2	UTSW	10	39,797,596 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- ATACTGGGGTACTGAGGTGC -3'
(R):5'- CCAAGACCAAACAGCTTTAATTCAGTG -3'

Sequencing Primer
(F):5'- AGGTGCTGAAGTGTGATGCTAAG -3'
(R):5'- CTTCTGACCTTCACAAACAC -3'

Posted On

2019-11-26