Mutagenetix > Incidental Mutation

Incidental Mutation 'R9491:Mdfic'

716927

Institutional Source

Beutler Lab

Gene Symbol

Mdfic

Ensembl Gene

ENSMUSG00000041390

Gene Name

MyoD family inhibitor domain containing

Synonyms

Kdt1, clone 1.5

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.361) question?

Stock #

R9491 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15720660-15802168 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 15799852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 326 (C326*)

Ref Sequence

ENSEMBL: ENSMUSP00000140641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101663] [ENSMUST00000120512] [ENSMUST00000189359] [ENSMUST00000190255]

AlphaFold

Q8BX65

Predicted Effect

probably null
Transcript: ENSMUST00000101663
AA Change: C244*

SMART Domains

Protein: ENSMUSP00000099186
Gene: ENSMUSG00000041390
AA Change: C244*

Domain	Start	End	E-Value	Type
Pfam:MDFI	74	247	7.3e-74	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000120512
AA Change: C244*

SMART Domains

Protein: ENSMUSP00000113050
Gene: ENSMUSG00000041390
AA Change: C244*

Domain	Start	End	E-Value	Type
Pfam:MDFI	74	247	1.6e-76	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000189359
AA Change: C244*

SMART Domains

Protein: ENSMUSP00000140208
Gene: ENSMUSG00000041390
AA Change: C244*

Domain	Start	End	E-Value	Type
Pfam:MDFI	74	247	1.6e-76	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000190255
AA Change: C326*

SMART Domains

Protein: ENSMUSP00000140641
Gene: ENSMUSG00000041390
AA Change: C326*

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
Pfam:MDFI	156	329	8.8e-73	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene product is a member of a family of proteins characterized by a specific cysteine-rich C-terminal domain, which is involved in transcriptional regulation of viral genome expression. Alternative translation initiation from an upstream non-AUG (GUG), and an in-frame, downstream AUG codon, results in the production of two isoforms, which in human have been shown to have different subcellular localization. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy1	G	A	9: 106,312,994 (GRCm39)	T142I	probably damaging	Het
Adcy9	T	C	16: 4,236,052 (GRCm39)	E453G	probably damaging	Het
Ank3	A	C	10: 69,838,339 (GRCm39)		probably null	Het
Asmt	G	A	X: 169,108,405 (GRCm39)	G103D	possibly damaging	Het
Cap2	C	T	13: 46,791,366 (GRCm39)	P290S	possibly damaging	Het
Cfap43	A	T	19: 47,800,505 (GRCm39)		probably null	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Clstn1	T	C	4: 149,731,929 (GRCm39)	S950P	probably damaging	Het
Cluap1	G	A	16: 3,758,732 (GRCm39)	R398Q	probably benign	Het
Cmbl	G	T	15: 31,582,119 (GRCm39)	V39L	probably benign	Het
Dapk1	A	G	13: 60,877,369 (GRCm39)	D536G	probably benign	Het
Ddx3y	T	A	Y: 1,279,465 (GRCm39)	D133V	probably benign	Het
Duox1	T	A	2: 122,156,907 (GRCm39)	S525T	probably benign	Het
Eif2s2	T	C	2: 154,734,630 (GRCm39)		probably benign	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Gadd45a	A	T	6: 67,012,730 (GRCm39)	D137E	probably benign	Het
Gmppa	A	G	1: 75,415,602 (GRCm39)	D120G	probably damaging	Het
Gpr156	A	T	16: 37,825,704 (GRCm39)	R640S	probably benign	Het
Grik1	A	T	16: 87,746,995 (GRCm39)	M414K		Het
Gtse1	C	T	15: 85,755,734 (GRCm39)	P466L	probably damaging	Het
H6pd	T	A	4: 150,080,366 (GRCm39)	N160Y	probably benign	Het
Hectd4	T	G	5: 121,452,981 (GRCm39)	L496R	probably damaging	Het
Hnrnpk	G	T	13: 58,541,050 (GRCm39)	Q441K	probably benign	Het
Incenp	T	C	19: 9,854,141 (GRCm39)	K637E	unknown	Het
Irgc	C	T	7: 24,132,349 (GRCm39)	R156H	probably benign	Het
Kazn	C	T	4: 141,845,436 (GRCm39)	A383T		Het
Lmln	A	G	16: 32,890,358 (GRCm39)	E169G	possibly damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Ncoa1	T	A	12: 4,340,912 (GRCm39)	D840V	probably benign	Het
Nkd1	A	G	8: 89,300,875 (GRCm39)	D81G	probably benign	Het
Or5an1c	T	C	19: 12,218,606 (GRCm39)	T140A	probably benign	Het
Or8c10	T	C	9: 38,278,971 (GRCm39)	V33A	possibly damaging	Het
Parp4	G	A	14: 56,832,828 (GRCm39)	E384K	probably damaging	Het
Pcdhgb4	T	A	18: 37,854,895 (GRCm39)	L430H	probably damaging	Het
Pdgfrb	A	G	18: 61,212,056 (GRCm39)	Y861C	probably damaging	Het
Pheta1	G	A	5: 121,991,051 (GRCm39)	A138T	probably benign	Het
Pipox	T	A	11: 77,772,359 (GRCm39)	Y337F	probably benign	Het
Prcc	A	G	3: 87,774,671 (GRCm39)	V377A	probably benign	Het
Prrg2	T	A	7: 44,706,218 (GRCm39)	Y133F	probably damaging	Het
Ptchd3	T	C	11: 121,733,813 (GRCm39)	V901A	probably damaging	Het
Rgl1	A	G	1: 152,424,869 (GRCm39)	L335P	probably damaging	Het
Setx	T	A	2: 29,037,835 (GRCm39)	M1440K	probably benign	Het
Smchd1	A	G	17: 71,667,020 (GRCm39)		probably null	Het
Tbpl2	T	C	2: 23,986,532 (GRCm39)	I6V	probably benign	Het
Tdrd12	T	A	7: 35,188,689 (GRCm39)	H516L		Het
Tmem8b	C	T	4: 43,673,938 (GRCm39)	R190C	probably damaging	Het
Tpmt	A	T	13: 47,180,752 (GRCm39)	S196T	probably benign	Het
Trp63	A	G	16: 25,695,472 (GRCm39)	N478S	unknown	Het
Vstm5	T	G	9: 15,168,586 (GRCm39)	I50S	probably damaging	Het
Wdhd1	A	T	14: 47,505,616 (GRCm39)	C285*	probably null	Het
Zdhhc23	A	C	16: 43,794,062 (GRCm39)	V204G	probably benign	Het
Zfp653	T	A	9: 21,969,622 (GRCm39)	K215*	probably null	Het

Other mutations in Mdfic

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00579:Mdfic	APN	6	15,741,073 (GRCm39)	missense	possibly damaging	0.95
IGL02184:Mdfic	APN	6	15,770,366 (GRCm39)	missense	possibly damaging	0.76
IGL03104:Mdfic	APN	6	15,770,319 (GRCm39)	missense	probably damaging	1.00
IGL03177:Mdfic	APN	6	15,770,450 (GRCm39)	missense	probably damaging	1.00
R0521:Mdfic	UTSW	6	15,799,755 (GRCm39)	missense	probably benign	0.07
R1549:Mdfic	UTSW	6	15,799,844 (GRCm39)	missense	probably damaging	1.00
R1613:Mdfic	UTSW	6	15,799,589 (GRCm39)	splice site	probably null
R2496:Mdfic	UTSW	6	15,741,041 (GRCm39)	missense	possibly damaging	0.92
R3087:Mdfic	UTSW	6	15,799,668 (GRCm39)	missense	probably damaging	1.00
R3623:Mdfic	UTSW	6	15,770,319 (GRCm39)	missense	probably damaging	1.00
R3887:Mdfic	UTSW	6	15,799,710 (GRCm39)	missense	probably damaging	1.00
R4736:Mdfic	UTSW	6	15,741,019 (GRCm39)	missense	possibly damaging	0.79
R5704:Mdfic	UTSW	6	15,770,291 (GRCm39)	missense	probably damaging	1.00
R6187:Mdfic	UTSW	6	15,721,196 (GRCm39)	utr 5 prime	probably benign
R6501:Mdfic	UTSW	6	15,770,516 (GRCm39)	missense	possibly damaging	0.48
R6517:Mdfic	UTSW	6	15,770,324 (GRCm39)	missense	probably damaging	1.00
R6521:Mdfic	UTSW	6	15,729,027 (GRCm39)	intron	probably benign
R7761:Mdfic	UTSW	6	15,728,055 (GRCm39)	missense	unknown
R7959:Mdfic	UTSW	6	15,741,070 (GRCm39)	missense	possibly damaging	0.84
R8196:Mdfic	UTSW	6	15,740,989 (GRCm39)	missense	probably benign	0.45
R8345:Mdfic	UTSW	6	15,799,653 (GRCm39)	missense	probably damaging	1.00
R8690:Mdfic	UTSW	6	15,799,653 (GRCm39)	missense	probably damaging	1.00
R9497:Mdfic	UTSW	6	15,770,508 (GRCm39)	missense	probably benign	0.27
R9497:Mdfic	UTSW	6	15,720,852 (GRCm39)	missense	unknown
R9718:Mdfic	UTSW	6	15,770,514 (GRCm39)	missense	probably damaging	1.00
R9755:Mdfic	UTSW	6	15,799,758 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACTGTATCCTGGCATGCTTG -3'
(R):5'- CATCCGGCGAAAGGAAGAATTTC -3'

Sequencing Primer
(F):5'- TGCAACATTGTCCTGGGAC -3'
(R):5'- TTCAGAGCTTACTTAGAAGGAATGG -3'

Posted On

2022-07-18