Mutagenetix > Incidental Mutation

Incidental Mutation 'R6706:Mfsd4b5'

528951

Institutional Source

Beutler Lab

Gene Symbol

Mfsd4b5

Ensembl Gene

ENSMUSG00000038528

Gene Name

major facilitator superfamily domain containing 4B5

Synonyms

BC021785

MMRRC Submission

044824-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R6706 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39834057-39862642 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39862413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 37 (T37S)

Ref Sequence

ENSEMBL: ENSMUSP00000073304 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045524] [ENSMUST00000073618] [ENSMUST00000164566] [ENSMUST00000170579]

AlphaFold

E9PYY6

Predicted Effect

probably benign
Transcript: ENSMUST00000045524

SMART Domains

Protein: ENSMUSP00000040341
Gene: ENSMUSG00000038528

Domain	Start	End	E-Value	Type
transmembrane domain	45	64	N/A	INTRINSIC
transmembrane domain	71	89	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000073618
AA Change: T37S

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000073304
Gene: ENSMUSG00000038528
AA Change: T37S

Domain	Start	End	E-Value	Type
transmembrane domain	39	61	N/A	INTRINSIC
transmembrane domain	76	95	N/A	INTRINSIC
transmembrane domain	102	120	N/A	INTRINSIC
transmembrane domain	124	141	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164566
AA Change: T37S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000130944
Gene: ENSMUSG00000038528
AA Change: T37S

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC
transmembrane domain	76	95	N/A	INTRINSIC
transmembrane domain	99	121	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170579
AA Change: T37S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000126439
Gene: ENSMUSG00000038528
AA Change: T37S

Domain	Start	End	E-Value	Type
Pfam:MFS_1	39	395	7.2e-15	PFAM
Pfam:TrkH	170	325	1.4e-9	PFAM
transmembrane domain	423	445	N/A	INTRINSIC

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	A	8: 44,104,479 (GRCm39)	K389*	probably null	Het
Adam6a	T	G	12: 113,508,886 (GRCm39)	F420V	probably benign	Het
Alpl	T	C	4: 137,473,740 (GRCm39)	T321A	probably benign	Het
Asxl3	A	G	18: 22,586,666 (GRCm39)	D152G	probably damaging	Het
B4galt4	A	G	16: 38,578,173 (GRCm39)	T207A	probably benign	Het
Bsph2	A	T	7: 13,304,972 (GRCm39)	M1K	probably null	Het
Cacna2d1	T	A	5: 16,531,338 (GRCm39)	L535Q	probably damaging	Het
Cacna2d3	T	C	14: 28,846,642 (GRCm39)		probably null	Het
Chrdl2	T	C	7: 99,659,328 (GRCm39)		probably null	Het
Ctdnep1	A	G	11: 69,875,138 (GRCm39)	N54S	probably benign	Het
Dclre1a	A	T	19: 56,533,501 (GRCm39)	D364E	probably benign	Het
Dock1	A	G	7: 134,735,615 (GRCm39)	I1328V	possibly damaging	Het
Eno4	A	T	19: 58,959,112 (GRCm39)	E411D	probably benign	Het
Fbxl14	A	G	6: 119,457,716 (GRCm39)	Y299C	probably benign	Het
Fhdc1	T	C	3: 84,353,729 (GRCm39)	S499G	probably damaging	Het
Hectd4	C	T	5: 121,458,147 (GRCm39)	T771I	possibly damaging	Het
Kansl3	A	G	1: 36,383,995 (GRCm39)		probably null	Het
Letm2	G	A	8: 26,083,977 (GRCm39)	H85Y	probably benign	Het
Map3k6	A	T	4: 132,978,250 (GRCm39)	K1031*	probably null	Het
Mgam	T	A	6: 40,721,720 (GRCm39)	V346D	probably benign	Het
Myrip	C	T	9: 120,217,359 (GRCm39)	H98Y	possibly damaging	Het
Nos2	A	G	11: 78,835,549 (GRCm39)	N443D	possibly damaging	Het
Notch2	A	T	3: 98,045,746 (GRCm39)	D1637V	possibly damaging	Het
Or4c35	T	A	2: 89,808,929 (GRCm39)	V269E	probably damaging	Het
Or6z6	G	A	7: 6,491,049 (GRCm39)	R275C	probably damaging	Het
Pank1	C	T	19: 34,789,786 (GRCm39)	G530D	probably damaging	Het
Pde4dip	G	T	3: 97,648,709 (GRCm39)	R1036S	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Plin2	T	C	4: 86,578,357 (GRCm39)	T247A	probably benign	Het
Rp1	T	A	1: 4,212,887 (GRCm39)	I1067F	unknown	Het
Serpinb9d	T	A	13: 33,380,541 (GRCm39)	N142K	probably benign	Het
Slc12a5	A	G	2: 164,830,509 (GRCm39)	Y639C	probably damaging	Het
Tfap2c	A	G	2: 172,399,276 (GRCm39)	M508V	probably benign	Het
Tmprss11d	T	C	5: 86,478,962 (GRCm39)	N147S	probably benign	Het
Togaram1	T	A	12: 65,049,383 (GRCm39)	N1273K	probably benign	Het
Ttn	G	A	2: 76,709,687 (GRCm39)	R1581*	probably null	Het
Uggt2	T	A	14: 119,308,293 (GRCm39)	I363F	probably damaging	Het
Vmn2r63	T	A	7: 42,578,001 (GRCm39)	D179V	probably damaging	Het

Other mutations in Mfsd4b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01411:Mfsd4b5	APN	10	39,846,723 (GRCm39)	missense	probably damaging	1.00
R1138:Mfsd4b5	UTSW	10	39,851,150 (GRCm39)	missense	probably damaging	1.00
R1166:Mfsd4b5	UTSW	10	39,846,419 (GRCm39)	missense	probably damaging	1.00
R1668:Mfsd4b5	UTSW	10	39,849,687 (GRCm39)	missense	probably damaging	0.98
R1718:Mfsd4b5	UTSW	10	39,851,199 (GRCm39)	missense	probably benign	0.09
R3977:Mfsd4b5	UTSW	10	39,850,704 (GRCm39)	intron	probably benign
R5015:Mfsd4b5	UTSW	10	39,850,758 (GRCm39)	missense	probably benign	0.03
R5080:Mfsd4b5	UTSW	10	39,846,570 (GRCm39)	missense	probably damaging	1.00
R5191:Mfsd4b5	UTSW	10	39,846,668 (GRCm39)	missense	probably damaging	1.00
R6554:Mfsd4b5	UTSW	10	39,862,428 (GRCm39)	missense	probably benign	0.19
R7667:Mfsd4b5	UTSW	10	39,850,796 (GRCm39)	missense	probably benign	0.01
R7750:Mfsd4b5	UTSW	10	39,846,251 (GRCm39)	missense	probably damaging	1.00
R8223:Mfsd4b5	UTSW	10	39,846,246 (GRCm39)	missense	probably damaging	1.00
R8854:Mfsd4b5	UTSW	10	39,846,735 (GRCm39)	missense	probably damaging	1.00
R9240:Mfsd4b5	UTSW	10	39,851,099 (GRCm39)	missense	probably damaging	1.00
Z1176:Mfsd4b5	UTSW	10	39,862,386 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAAGTAAGGTTTGCTGCAG -3'
(R):5'- GGAGAAGTCTTCTGGTCAGACAG -3'

Sequencing Primer
(F):5'- CTGCAGTTGGAAAATATTAGGGTC -3'
(R):5'- TCAGACAGAACAGGGGCTC -3'

Posted On

2018-07-24