Mutagenetix > Incidental Mutation

Incidental Mutation 'R6043:Medag'

483660

Institutional Source

Beutler Lab

Gene Symbol

Medag

Ensembl Gene

ENSMUSG00000029659

Gene Name

mesenteric estrogen dependent adipogenesis

Synonyms

MEDA-4, 6330406I15Rik

MMRRC Submission

044211-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6043 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

149335214-149355188 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 149345672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 4 (F4V)

Ref Sequence

ENSEMBL: ENSMUSP00000144535 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093110] [ENSMUST00000201083]

AlphaFold

Q14BA6

Predicted Effect

probably benign
Transcript: ENSMUST00000093110
AA Change: F118V

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000090798
Gene: ENSMUSG00000029659
AA Change: F118V

Domain	Start	End	E-Value	Type
low complexity region	32	43	N/A	INTRINSIC
low complexity region	58	69	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200931

Predicted Effect

probably benign
Transcript: ENSMUST00000201083
AA Change: F4V

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201093

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201588

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201641

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

Allele List at MGI

All alleles(5) : Targeted, other(4) Gene trapped(1)

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	T	C	1: 171,080,170 (GRCm39)	F44S	probably damaging	Het
Ap3b1	A	T	13: 94,613,501 (GRCm39)	T667S	probably benign	Het
Camsap1	T	C	2: 25,819,937 (GRCm39)	Y1516C	probably benign	Het
Ccl17	A	G	8: 95,537,100 (GRCm39)	M1V	probably null	Het
Cfhr1	T	A	1: 139,478,606 (GRCm39)	T255S	probably benign	Het
Clcn6	T	C	4: 148,093,245 (GRCm39)	N812D	probably damaging	Het
Cyp2b10	T	C	7: 25,616,764 (GRCm39)	F402L	probably damaging	Het
Dgkz	A	C	2: 91,766,234 (GRCm39)	S776A	probably benign	Het
Dnaaf2	A	T	12: 69,244,122 (GRCm39)	L313Q	probably damaging	Het
Dnah10	G	A	5: 124,878,924 (GRCm39)	G2728S	probably damaging	Het
Dnah7b	T	A	1: 46,178,949 (GRCm39)	M874K	probably benign	Het
Eef1akmt3	A	T	10: 126,869,147 (GRCm39)	L109Q	probably damaging	Het
Egf	A	G	3: 129,530,434 (GRCm39)	S243P	probably benign	Het
Fbxw21	T	C	9: 108,974,607 (GRCm39)	I304M	possibly damaging	Het
Fcgr4	T	C	1: 170,847,699 (GRCm39)	V99A	probably damaging	Het
Fhdc1	T	C	3: 84,356,193 (GRCm39)	E417G	probably damaging	Het
Flnc	G	T	6: 29,446,607 (GRCm39)	G939V	probably damaging	Het
Herc1	A	G	9: 66,315,436 (GRCm39)	M1173V	probably benign	Het
Hspa2	C	T	12: 76,453,096 (GRCm39)	H597Y	probably damaging	Het
Itgb4	C	T	11: 115,870,212 (GRCm39)	T64I	probably benign	Het
Kif16b	A	G	2: 142,553,820 (GRCm39)	S993P	probably damaging	Het
Kitl	T	A	10: 99,899,947 (GRCm39)	V84E	probably damaging	Het
Klra17	A	G	6: 129,849,150 (GRCm39)		probably null	Het
Map2k3	A	G	11: 60,837,572 (GRCm39)	D224G	probably benign	Het
Mob3b	C	T	4: 34,985,993 (GRCm39)	V182I	probably benign	Het
Mvb12b	G	T	2: 33,764,402 (GRCm39)	T49K	probably damaging	Het
Naaladl2	A	G	3: 24,112,378 (GRCm39)	V568A	possibly damaging	Het
Nbea	T	C	3: 55,693,896 (GRCm39)	E2174G	probably benign	Het
Nmd3	T	C	3: 69,652,580 (GRCm39)	Y389H	probably benign	Het
Or13g1	A	G	7: 85,955,547 (GRCm39)	I258T	probably damaging	Het
Or4p19	C	T	2: 88,242,589 (GRCm39)	E138K	probably benign	Het
Pcare	T	C	17: 72,057,037 (GRCm39)	D880G	probably damaging	Het
Pcdh1	T	A	18: 38,336,327 (GRCm39)	N103Y	probably damaging	Het
Pcm1	A	G	8: 41,781,815 (GRCm39)	D1905G	possibly damaging	Het
Plcd1	A	G	9: 118,901,667 (GRCm39)	F619S	probably damaging	Het
Ptdss1	T	A	13: 67,111,433 (GRCm39)	D166E	probably damaging	Het
Rnf213	T	C	11: 119,332,927 (GRCm39)	V2713A	probably damaging	Het
Sema4f	T	C	6: 82,896,634 (GRCm39)	N200D	probably damaging	Het
Tjp1	A	T	7: 64,973,837 (GRCm39)	N472K	probably damaging	Het
Trav6n-5	T	C	14: 53,342,608 (GRCm39)	Y49H	probably benign	Het
Trbv2	A	G	6: 41,024,904 (GRCm39)	T107A	probably benign	Het
Unc13c	T	C	9: 73,643,933 (GRCm39)	N1177S	possibly damaging	Het
Vmn1r212	A	G	13: 23,068,258 (GRCm39)	V25A	probably damaging	Het
Zfhx4	T	G	3: 5,468,487 (GRCm39)	S2882A	probably benign	Het
Zswim5	A	C	4: 116,819,818 (GRCm39)	S408R	probably benign	Het

Other mutations in Medag

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01113:Medag	APN	5	149,353,372 (GRCm39)	missense	probably benign	0.23
IGL02531:Medag	APN	5	149,345,616 (GRCm39)	missense	probably benign	0.00
IGL02817:Medag	APN	5	149,350,503 (GRCm39)	nonsense	probably null
3-1:Medag	UTSW	5	149,350,750 (GRCm39)	missense	probably benign	0.03
PIT4494001:Medag	UTSW	5	149,350,765 (GRCm39)	missense	probably damaging	1.00
R1074:Medag	UTSW	5	149,335,674 (GRCm39)	missense	probably benign	0.10
R1654:Medag	UTSW	5	149,345,600 (GRCm39)	missense	probably damaging	1.00
R1858:Medag	UTSW	5	149,353,259 (GRCm39)	missense	probably damaging	0.99
R1999:Medag	UTSW	5	149,350,717 (GRCm39)	missense	probably damaging	1.00
R3840:Medag	UTSW	5	149,350,888 (GRCm39)	missense	probably damaging	1.00
R3841:Medag	UTSW	5	149,350,888 (GRCm39)	missense	probably damaging	1.00
R4272:Medag	UTSW	5	149,345,628 (GRCm39)	missense	probably damaging	1.00
R4642:Medag	UTSW	5	149,335,444 (GRCm39)	start codon destroyed	probably null	0.85
R5218:Medag	UTSW	5	149,345,719 (GRCm39)	splice site	probably benign
R5593:Medag	UTSW	5	149,350,415 (GRCm39)	missense	probably benign	0.00
R5700:Medag	UTSW	5	149,345,682 (GRCm39)	missense	probably benign	0.00
R7009:Medag	UTSW	5	149,350,708 (GRCm39)	missense	probably benign	0.14
R8953:Medag	UTSW	5	149,350,765 (GRCm39)	missense	probably damaging	1.00
RF012:Medag	UTSW	5	149,335,459 (GRCm39)	missense	probably benign	0.23
Z1176:Medag	UTSW	5	149,350,972 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAGGCCATGGCTGAGGCA -3'
(R):5'- CTCAGACTGACAATGTGGGG -3'

Sequencing Primer
(F):5'- AGGTGCATGTCCAGTCAGTACAC -3'
(R):5'- TGTCCAGCCATTAAGCTAGTCAAGG -3'

Posted On

2017-07-14