Mutagenetix > Incidental Mutation

Incidental Mutation 'R5680:Mdfic2'

442974

Institutional Source

Beutler Lab

Gene Symbol

Mdfic2

Ensembl Gene

ENSMUSG00000090667

Gene Name

MyoD family inhibitor domain containing 2

Synonyms

LOC330390, Gm765

MMRRC Submission

043177-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R5680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98212669-98319715 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98225187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 32 (Q32L)

Ref Sequence

ENSEMBL: ENSMUSP00000127120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164491]

AlphaFold

B2RVL9

Predicted Effect

probably damaging
Transcript: ENSMUST00000164491
AA Change: Q32L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127120
Gene: ENSMUSG00000090667
AA Change: Q32L

Domain	Start	End	E-Value	Type
Pfam:MDFI	13	189	1.8e-49	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205146

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,384,010 (GRCm39)	R652W	probably damaging	Het
Abca6	A	G	11: 110,127,471 (GRCm39)	F362S	possibly damaging	Het
Adcy1	G	A	11: 7,059,020 (GRCm39)	V309M	probably damaging	Het
Agap2	A	G	10: 126,923,880 (GRCm39)	K752E	unknown	Het
Ahdc1	T	A	4: 132,792,907 (GRCm39)	F1383I	probably benign	Het
Ano5	G	A	7: 51,233,562 (GRCm39)	R658H	possibly damaging	Het
Atn1	A	T	6: 124,724,778 (GRCm39)	S152T	possibly damaging	Het
Bcl11a	G	A	11: 24,114,264 (GRCm39)	V536M	possibly damaging	Het
Cdc20	T	C	4: 118,290,264 (GRCm39)	T466A	probably damaging	Het
Cecr2	C	G	6: 120,738,387 (GRCm39)	T1010R	probably benign	Het
Cfap54	A	T	10: 92,814,879 (GRCm39)	L1318*	probably null	Het
Colec11	A	G	12: 28,644,730 (GRCm39)	S249P	probably damaging	Het
Dnah6	A	G	6: 73,126,508 (GRCm39)	V1273A	probably damaging	Het
G3bp2	T	C	5: 92,216,219 (GRCm39)	R106G	probably damaging	Het
Ggt7	A	T	2: 155,348,353 (GRCm39)	C100S	probably damaging	Het
Grik4	A	T	9: 42,540,415 (GRCm39)	M255K	probably benign	Het
Kcnj11	A	T	7: 45,748,232 (GRCm39)	S364T	probably benign	Het
Lnpep	A	T	17: 17,799,444 (GRCm39)	Y70*	probably null	Het
Mark1	T	C	1: 184,677,013 (GRCm39)	H79R	probably damaging	Het
Myo9b	T	G	8: 71,743,016 (GRCm39)	S26A	probably benign	Het
Pa2g4	G	T	10: 128,395,326 (GRCm39)	N306K	probably benign	Het
Pik3c3	T	A	18: 30,410,166 (GRCm39)	Y133*	probably null	Het
Prpf6	G	T	2: 181,290,933 (GRCm39)	A675S	probably damaging	Het
Psca	A	G	15: 74,587,948 (GRCm39)	D44G	probably benign	Het
Sag	T	A	1: 87,749,059 (GRCm39)	F153I	possibly damaging	Het
Scn10a	A	G	9: 119,453,202 (GRCm39)	L1231P	probably damaging	Het
Sirpa	T	C	2: 129,458,172 (GRCm39)	S157P	probably benign	Het
Slc27a2	A	T	2: 126,403,530 (GRCm39)	R184S	probably benign	Het
Tagln2	T	C	1: 172,333,479 (GRCm39)	F111S	probably damaging	Het
Tasor	CGCGGCGGCGGCGGCGG	CGCGGCGGCGGCGGCGGCGGCGG	14: 27,151,080 (GRCm39)		probably benign	Het
Tbc1d1	A	G	5: 64,481,887 (GRCm39)	D696G	possibly damaging	Het
Tert	T	A	13: 73,790,470 (GRCm39)		probably null	Het
Togaram2	G	A	17: 71,996,204 (GRCm39)	R68K	probably benign	Het
Trim40	A	T	17: 37,199,874 (GRCm39)	I68N	probably damaging	Het
Trpa1	T	C	1: 14,946,078 (GRCm39)	M1018V	probably benign	Het
Unc13c	A	T	9: 73,839,884 (GRCm39)	N322K	probably damaging	Het
Vmn2r75	T	A	7: 85,820,779 (GRCm39)	T52S	probably benign	Het
Vmn2r90	T	G	17: 17,947,034 (GRCm39)	V437G	possibly damaging	Het
Vps16	C	A	2: 130,282,244 (GRCm39)	H389N	possibly damaging	Het

Other mutations in Mdfic2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02184:Mdfic2	APN	6	98,225,059 (GRCm39)	missense	possibly damaging	0.81
IGL02217:Mdfic2	APN	6	98,225,033 (GRCm39)	missense	possibly damaging	0.93
R0508:Mdfic2	UTSW	6	98,215,005 (GRCm39)	utr 3 prime	probably benign
R1375:Mdfic2	UTSW	6	98,215,260 (GRCm39)	missense	possibly damaging	0.77
R1694:Mdfic2	UTSW	6	98,215,100 (GRCm39)	missense	probably damaging	0.98
R1944:Mdfic2	UTSW	6	98,225,151 (GRCm39)	missense	probably benign	0.01
R4906:Mdfic2	UTSW	6	98,215,080 (GRCm39)	missense	probably damaging	1.00
R5472:Mdfic2	UTSW	6	98,215,237 (GRCm39)	missense	probably damaging	1.00
R6285:Mdfic2	UTSW	6	98,215,134 (GRCm39)	missense	probably damaging	1.00
R6692:Mdfic2	UTSW	6	98,225,169 (GRCm39)	missense	possibly damaging	0.94
R7354:Mdfic2	UTSW	6	98,215,242 (GRCm39)	missense	probably damaging	0.97
R9124:Mdfic2	UTSW	6	98,318,899 (GRCm39)	missense	possibly damaging	0.69
R9431:Mdfic2	UTSW	6	98,215,164 (GRCm39)	missense	probably benign
R9755:Mdfic2	UTSW	6	98,225,147 (GRCm39)	missense	probably benign
Z1177:Mdfic2	UTSW	6	98,215,201 (GRCm39)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- AGGGAAATTTCGTTTGGCATTC -3'
(R):5'- GGTTTGCCCAACTCACCATC -3'

Sequencing Primer
(F):5'- GAAATTTCGTTTGGCATTCTTCAAGG -3'
(R):5'- ACTCACCATCTTAAAAACTGATGTAG -3'

Posted On

2016-11-09