Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4494001:Medag'

556147

Institutional Source

Beutler Lab

Gene Symbol

Medag

Ensembl Gene

ENSMUSG00000029659

Gene Name

mesenteric estrogen dependent adipogenesis

Synonyms

MEDA-4, 6330406I15Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4494001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

149335214-149355188 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 149350765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 194 (Y194C)

Ref Sequence

ENSEMBL: ENSMUSP00000090798 (fasta)

Gene Model

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

AlphaFold

Q14BA6

Predicted Effect

probably damaging
Transcript: ENSMUST00000093110
AA Change: Y194C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090798
Gene: ENSMUSG00000029659
AA Change: Y194C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000201083
AA Change: Y80C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 93.8%
3x: 91.1%
10x: 85.6%
20x: 73.9%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	T	C	4: 123,754,698 (GRCm39)	I204T	probably benign	Het
Acnat2	T	C	4: 49,383,133 (GRCm39)	E140G	probably benign	Het
Arhgef10l	T	C	4: 140,292,522 (GRCm39)	E413G	probably damaging	Het
Atg9a	A	T	1: 75,164,597 (GRCm39)	C122*	probably null	Het
Birc6	T	C	17: 74,933,975 (GRCm39)	Y2544H	probably damaging	Het
C3	G	A	17: 57,516,263 (GRCm39)	T1383I	probably benign	Het
Cd2ap	C	T	17: 43,163,258 (GRCm39)		probably null	Het
Cdhr1	T	C	14: 36,804,813 (GRCm39)	T466A	probably benign	Het
Cdhr2	G	T	13: 54,866,255 (GRCm39)		probably null	Het
Eppk1	T	A	15: 75,990,272 (GRCm39)	Q2203L	probably benign	Het
F10	T	C	8: 13,103,423 (GRCm39)	L281P	probably damaging	Het
Farp2	A	G	1: 93,545,316 (GRCm39)	T825A	probably damaging	Het
Fbxw27	T	C	9: 109,601,178 (GRCm39)	E314G	probably benign	Het
Foxred1	T	C	9: 35,120,355 (GRCm39)	E173G	possibly damaging	Het
Gm4847	T	C	1: 166,467,587 (GRCm39)	E203G	probably damaging	Het
Gpat2	G	A	2: 127,275,800 (GRCm39)	R526H	probably benign	Het
Grin2a	T	C	16: 9,402,960 (GRCm39)	Y842C	probably damaging	Het
Hyal4	T	C	6: 24,755,833 (GRCm39)	V17A	probably benign	Het
Igkv4-68	T	C	6: 69,282,091 (GRCm39)	T27A	probably damaging	Het
Loxhd1	A	T	18: 77,529,464 (GRCm39)	N2036Y	probably damaging	Het
Lrp5	T	C	19: 3,660,091 (GRCm39)	Y991C	probably damaging	Het
Lrp6	T	C	6: 134,456,741 (GRCm39)	Y841C	probably damaging	Het
Mynn	C	T	3: 30,661,871 (GRCm39)	R318*	probably null	Het
Notch1	C	T	2: 26,356,485 (GRCm39)	V1711M	probably damaging	Het
Nsun2	T	C	13: 69,766,311 (GRCm39)		probably null	Het
Pex7	A	G	10: 19,770,469 (GRCm39)		probably null	Het
Pkd1	A	G	17: 24,796,775 (GRCm39)	T2417A	probably damaging	Het
Pknox2	A	G	9: 36,865,987 (GRCm39)		probably null	Het
Plekha4	T	C	7: 45,197,503 (GRCm39)	S522P	probably damaging	Het
Ptcd1	A	T	5: 145,092,168 (GRCm39)	S310R	probably benign	Het
Rap2a	A	G	14: 120,716,319 (GRCm39)	T61A	possibly damaging	Het
Ryr3	G	T	2: 112,672,221 (GRCm39)	L1437M	probably damaging	Het
Slc25a40	T	G	5: 8,490,737 (GRCm39)	I95S	probably damaging	Het
Srbd1	C	T	17: 86,449,787 (GRCm39)		probably null	Het
Tox4	C	T	14: 52,529,260 (GRCm39)	T407I	possibly damaging	Het
Vmn1r8	A	G	6: 57,013,712 (GRCm39)	I254M	probably benign	Het
Wiz	G	A	17: 32,580,905 (GRCm39)	A182V	probably damaging	Het
Zfp60	T	C	7: 27,448,126 (GRCm39)	S265P	probably damaging	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
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
R6043:Medag	UTSW	5	149,345,672 (GRCm39)	missense	probably benign	0.14
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'- CAGTGTTCCCCTGCAGACATTG -3'
(R):5'- CCCTGAGAGTTTATGACCTACCTC -3'

Sequencing Primer
(F):5'- CCTGCAGACATTGAAGTTGC -3'
(R):5'- ATGACCTACCTCTAGATGTGACG -3'

Posted On

2019-06-07