Mutagenetix > Incidental Mutation

Incidental Mutation 'R1375:Mdfic2'

157465

Institutional Source

Beutler Lab

Gene Symbol

Mdfic2

Ensembl Gene

ENSMUSG00000090667

Gene Name

MyoD family inhibitor domain containing 2

Synonyms

LOC330390, Gm765

MMRRC Submission

039439-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R1375 (G1)

Quality Score

213

Status

Validated

Chromosome

Chromosomal Location

98212669-98319715 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98215260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 121 (C121Y)

Ref Sequence

ENSEMBL: ENSMUSP00000127120 (fasta)

Gene Model

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

AlphaFold

B2RVL9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164491
AA Change: C121Y

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127120
Gene: ENSMUSG00000090667
AA Change: C121Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205146

Meta Mutation Damage Score

0.0821

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.8%
20x: 89.3%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,243,042 (GRCm39)	V1268A	possibly damaging	Het
Ccng1	G	A	11: 40,642,941 (GRCm39)	P169S	probably benign	Het
Cep85l	A	T	10: 53,225,354 (GRCm39)	D78E	probably damaging	Het
Csmd1	C	A	8: 16,513,095 (GRCm39)		probably null	Het
Dapk2	C	G	9: 66,127,925 (GRCm39)	R68G	probably damaging	Het
Defb15	T	C	8: 22,420,071 (GRCm39)	N19D	possibly damaging	Het
Dnah8	G	A	17: 30,956,269 (GRCm39)	G2083D	probably damaging	Het
Ggn	T	C	7: 28,871,366 (GRCm39)	S249P	probably damaging	Het
Gm17541	A	T	12: 4,739,825 (GRCm39)		probably benign	Het
Gnptab	T	A	10: 88,268,435 (GRCm39)	L514Q	probably damaging	Het
Heg1	C	A	16: 33,547,246 (GRCm39)	H678N	possibly damaging	Het
Heg1	T	C	16: 33,547,679 (GRCm39)	I846T	possibly damaging	Het
Hydin	G	A	8: 111,232,854 (GRCm39)		probably null	Het
Il17b	T	C	18: 61,823,325 (GRCm39)	V53A	probably benign	Het
Inpp5f	T	A	7: 128,265,753 (GRCm39)	L166*	probably null	Het
Myh9	A	T	15: 77,653,568 (GRCm39)		probably null	Het
Nsrp1	A	G	11: 76,941,543 (GRCm39)		probably benign	Het
Nup205	T	C	6: 35,177,006 (GRCm39)		probably benign	Het
Olr1	T	C	6: 129,484,039 (GRCm39)	N11S	possibly damaging	Het
Or5w1b	T	A	2: 87,476,081 (GRCm39)	N129Y	probably damaging	Het
Or6b6	A	G	7: 106,571,305 (GRCm39)	L82P	probably damaging	Het
Or6c211	A	T	10: 129,506,241 (GRCm39)	L12Q	probably null	Het
Or8b46	T	A	9: 38,450,830 (GRCm39)	V213D	possibly damaging	Het
Pipox	C	A	11: 77,772,036 (GRCm39)	E363*	probably null	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Rpp30	T	C	19: 36,078,673 (GRCm39)		probably null	Het
Septin1	T	C	7: 126,817,333 (GRCm39)	D25G	probably damaging	Het
Stk17b	T	C	1: 53,805,106 (GRCm39)	N152D	possibly damaging	Het
Tasor2	A	G	13: 3,626,029 (GRCm39)	V1307A	probably benign	Het
Thsd7b	A	T	1: 130,087,423 (GRCm39)	N1180I	probably 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
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
R5680:Mdfic2	UTSW	6	98,225,187 (GRCm39)	missense	probably damaging	0.99
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'- TCTAAGGACCGCCTGAGTGCTAATC -3'
(R):5'- GCGCCACCCGAACAGTTTTATG -3'

Sequencing Primer
(F):5'- TCGGTAACAGATTTCTGATATCTCC -3'
(R):5'- CACCCGAACAGTTTTATGTAACATAC -3'

Posted On

2014-02-18