Mutagenetix > Incidental Mutation

Incidental Mutation 'R2104:Mdfi'

230829

Institutional Source

Beutler Lab

Gene Symbol

Mdfi

Ensembl Gene

ENSMUSG00000032717

Gene Name

MyoD family inhibitor

Synonyms

I-mfa, I-mf

MMRRC Submission

040108-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2104 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

48126253-48145616 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 48135562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 56 (A56G)

Ref Sequence

ENSEMBL: ENSMUSP00000117665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035375] [ENSMUST00000066368] [ENSMUST00000113280] [ENSMUST00000129360] [ENSMUST00000131971] [ENSMUST00000132125] [ENSMUST00000152455]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035375
AA Change: A56G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037888
Gene: ENSMUSG00000032717
AA Change: A56G

Domain	Start	End	E-Value	Type
Pfam:MDFI	71	246	7.1e-61	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066368
AA Change: A56G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000069915
Gene: ENSMUSG00000032717
AA Change: A56G

Domain	Start	End	E-Value	Type
Pfam:MDFI	61	246	9.8e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113280

SMART Domains

Protein: ENSMUSP00000108905
Gene: ENSMUSG00000032717

Domain	Start	End	E-Value	Type
Pfam:MDFI	14	186	4.6e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125745

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129360
AA Change: A56G

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000131971

SMART Domains

Protein: ENSMUSP00000120454
Gene: ENSMUSG00000032717

Domain	Start	End	E-Value	Type
Pfam:MDFI	14	143	6.9e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132125
AA Change: A56G

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152455
AA Change: A56G

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117665
Gene: ENSMUSG00000032717
AA Change: A56G

Domain	Start	End	E-Value	Type
low complexity region	138	153	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140234

Meta Mutation Damage Score

0.0818

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (80/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein is a transcription factor that negatively regulates other myogenic family proteins. Studies of the mouse homolog, I-mf, show that it interferes with myogenic factor function by masking nuclear localization signals and preventing DNA binding. Knockout mouse studies show defects in the formation of vertebrae and ribs that also involve cartilage formation in these structures. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation on a C57BL/6 background exhibit a placental defect and die around embryonic day 10.5, but on a 129/Sv background, mutants survive to adulthood and show delayed caudal neural tube closure and skeletal abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	G	A	7: 119,383,527 (GRCm39)	V563I	probably benign	Het
Amer3	T	C	1: 34,627,759 (GRCm39)	V666A	probably benign	Het
Ankrd16	A	G	2: 11,784,711 (GRCm39)		probably benign	Het
Ankub1	G	T	3: 57,580,296 (GRCm39)	C120*	probably null	Het
Arhgap31	T	C	16: 38,445,941 (GRCm39)	I135V	probably benign	Het
Atp2c2	G	A	8: 120,476,584 (GRCm39)	G633D	probably benign	Het
Camta1	T	A	4: 151,537,751 (GRCm39)	Q143L	probably damaging	Het
Casp8ap2	T	C	4: 32,644,727 (GRCm39)	S1267P	probably benign	Het
Ccn4	A	G	15: 66,791,176 (GRCm39)	E326G	probably benign	Het
Cdh1	T	A	8: 107,380,391 (GRCm39)		probably benign	Het
Cdhr4	C	A	9: 107,873,460 (GRCm39)	D397E	probably damaging	Het
Cdk6	T	G	5: 3,394,387 (GRCm39)	S7R	probably benign	Het
Cert1	T	A	13: 96,771,394 (GRCm39)	N550K	probably damaging	Het
Cilp2	C	A	8: 70,335,442 (GRCm39)	E519*	probably null	Het
Clybl	A	G	14: 122,548,718 (GRCm39)	Y40C	probably damaging	Het
Ctnnal1	T	C	4: 56,812,329 (GRCm39)	*732W	probably null	Het
Ctns	A	T	11: 73,083,907 (GRCm39)	S38R	probably benign	Het
Cwh43	A	T	5: 73,578,873 (GRCm39)	K293N	possibly damaging	Het
Dcaf5	G	T	12: 80,385,635 (GRCm39)	D830E	probably benign	Het
Dmxl2	A	G	9: 54,322,848 (GRCm39)	V1512A	probably damaging	Het
Dnah9	A	T	11: 65,951,950 (GRCm39)	C1850S	probably damaging	Het
Dpp8	C	T	9: 64,981,849 (GRCm39)		probably null	Het
Enam	A	T	5: 88,649,646 (GRCm39)	Q385L	probably damaging	Het
Etv3	A	G	3: 87,443,369 (GRCm39)	T318A	possibly damaging	Het
Exd2	T	G	12: 80,543,575 (GRCm39)	I586S	probably benign	Het
Fat3	A	G	9: 15,909,813 (GRCm39)	V2063A	possibly damaging	Het
Fezf1	A	G	6: 23,247,331 (GRCm39)	F248S	possibly damaging	Het
Flnc	T	C	6: 29,450,734 (GRCm39)		probably null	Het
Foxc2	A	G	8: 121,844,819 (GRCm39)	Y489C	probably damaging	Het
Gfm2	A	G	13: 97,308,028 (GRCm39)	E540G	probably damaging	Het
Hrg	T	C	16: 22,774,949 (GRCm39)	I193T	probably benign	Het
Ifih1	G	A	2: 62,440,889 (GRCm39)	Q426*	probably null	Het
Ifit1bl2	T	A	19: 34,596,920 (GRCm39)	D232V	probably benign	Het
Igf2bp1	A	G	11: 95,866,122 (GRCm39)	V122A	probably damaging	Het
Inpp1	T	G	1: 52,838,577 (GRCm39)	Q24P	probably damaging	Het
Kifc2	A	G	15: 76,545,454 (GRCm39)	D67G	probably damaging	Het
Lrrc43	G	A	5: 123,639,177 (GRCm39)	G402D	probably benign	Het
Lrrc8c	C	T	5: 105,755,224 (GRCm39)	T333M	possibly damaging	Het
Mab21l3	G	T	3: 101,730,744 (GRCm39)	A165D	probably benign	Het
Mcub	T	A	3: 129,712,337 (GRCm39)	R179S	probably benign	Het
Mdn1	A	T	4: 32,743,843 (GRCm39)		probably null	Het
Meox2	A	G	12: 37,217,476 (GRCm39)	T226A	probably damaging	Het
Mipol1	A	G	12: 57,352,842 (GRCm39)		probably null	Het
Mms22l	T	G	4: 24,591,084 (GRCm39)	N1018K	probably benign	Het
Mn1	T	C	5: 111,602,617 (GRCm39)	I1285T	possibly damaging	Het
Muc20	T	G	16: 32,614,547 (GRCm39)	S277R	probably damaging	Het
Muc6	C	A	7: 141,213,991 (GRCm39)	V2845L	probably benign	Het
Mup5	C	A	4: 61,751,962 (GRCm39)	G96C	probably damaging	Het
Neb	T	A	2: 52,146,826 (GRCm39)	M2813L	probably benign	Het
Neb	C	A	2: 52,161,570 (GRCm39)	R2074L	probably damaging	Het
Oasl2	A	T	5: 115,049,063 (GRCm39)	K168*	probably null	Het
Or6c5	T	C	10: 129,074,368 (GRCm39)	S117P	probably damaging	Het
P2rx2	C	T	5: 110,489,007 (GRCm39)	D203N	probably damaging	Het
Ptprg	T	C	14: 11,952,897 (GRCm38)		probably null	Het
Rims4	C	T	2: 163,706,785 (GRCm39)		probably null	Het
Rtn4ip1	T	A	10: 43,808,402 (GRCm39)	W60R	probably benign	Het
Sccpdh	T	C	1: 179,498,162 (GRCm39)	S69P	probably benign	Het
Serpina3b	T	A	12: 104,105,069 (GRCm39)	I415N	probably benign	Het
Slc22a4	T	C	11: 53,874,436 (GRCm39)		probably benign	Het
Slc4a5	G	A	6: 83,274,360 (GRCm39)	A1076T	probably benign	Het
Slit1	T	C	19: 41,590,686 (GRCm39)	K1329E	possibly damaging	Het
Synj2bp	A	C	12: 81,548,826 (GRCm39)	F138V	probably benign	Het
Taar7a	T	C	10: 23,868,959 (GRCm39)	I141V	probably damaging	Het
Tas1r3	T	C	4: 155,946,588 (GRCm39)	E339G	probably benign	Het
Tep1	A	G	14: 51,088,037 (GRCm39)		probably benign	Het
Tgds	A	T	14: 118,359,149 (GRCm39)	Y146*	probably null	Het
Tgm3	G	A	2: 129,879,403 (GRCm39)	V332I	probably benign	Het
Tnnt2	A	G	1: 135,771,547 (GRCm39)		probably benign	Het
Top1	T	A	2: 160,546,739 (GRCm39)	Y340N	probably damaging	Het
Topbp1	T	C	9: 103,195,181 (GRCm39)		probably benign	Het
Tpst1	A	G	5: 130,131,202 (GRCm39)	N224S	probably benign	Het
Traf4	A	G	11: 78,050,840 (GRCm39)	F439L	probably damaging	Het
Trim58	A	G	11: 58,533,964 (GRCm39)		probably benign	Het
Tspan31	T	C	10: 126,904,004 (GRCm39)	N205S	probably damaging	Het
Ube3a	T	A	7: 58,926,225 (GRCm39)	N334K	possibly damaging	Het
Ugt2a3	A	T	5: 87,477,541 (GRCm39)		probably null	Het
Vwf	G	A	6: 125,623,293 (GRCm39)	V1797I	probably benign	Het
Wdr81	G	T	11: 75,343,809 (GRCm39)	P486Q	probably damaging	Het
Whamm	C	T	7: 81,241,519 (GRCm39)	R277*	probably null	Het
Yipf7	T	A	5: 69,678,462 (GRCm39)	N56I	possibly damaging	Het
Zfp523	A	T	17: 28,414,190 (GRCm39)	T75S	probably benign	Het

Other mutations in Mdfi

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0711:Mdfi	UTSW	17	48,143,855 (GRCm39)	splice site	probably benign
R4710:Mdfi	UTSW	17	48,135,511 (GRCm39)	missense	probably damaging	0.99
R4716:Mdfi	UTSW	17	48,131,906 (GRCm39)	missense	possibly damaging	0.73
R4768:Mdfi	UTSW	17	48,135,475 (GRCm39)	missense	probably damaging	1.00
R5299:Mdfi	UTSW	17	48,131,759 (GRCm39)	missense	possibly damaging	0.77
R8085:Mdfi	UTSW	17	48,127,042 (GRCm39)	missense	probably damaging	1.00
R9049:Mdfi	UTSW	17	48,135,479 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTGACTTCACATAACCCGC -3'
(R):5'- CAGAAGTGAGGTCTCATTGGG -3'

Sequencing Primer
(F):5'- TTACATCAGCACCCAGGGCAG -3'
(R):5'- AAGTGAGGTCTCATTGGGTGCTC -3'

Posted On

2014-09-18