Incidental Mutation 'R3887:Mdfic'
ID |
309690 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mdfic
|
Ensembl Gene |
ENSMUSG00000041390 |
Gene Name |
MyoD family inhibitor domain containing |
Synonyms |
Kdt1, clone 1.5 |
MMRRC Submission |
040799-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.361)
|
Stock # |
R3887 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
15720660-15802168 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 15799710 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 279
(T279I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140641
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101663]
[ENSMUST00000120512]
[ENSMUST00000189359]
[ENSMUST00000190255]
|
AlphaFold |
Q8BX65 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000101663
AA Change: T197I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099186 Gene: ENSMUSG00000041390 AA Change: T197I
Domain | Start | End | E-Value | Type |
Pfam:MDFI
|
74 |
247 |
7.3e-74 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000120512
AA Change: T197I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113050 Gene: ENSMUSG00000041390 AA Change: T197I
Domain | Start | End | E-Value | Type |
Pfam:MDFI
|
74 |
247 |
1.6e-76 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000189359
AA Change: T197I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000140208 Gene: ENSMUSG00000041390 AA Change: T197I
Domain | Start | End | E-Value | Type |
Pfam:MDFI
|
74 |
247 |
1.6e-76 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000190255
AA Change: T279I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000140641 Gene: ENSMUSG00000041390 AA Change: T279I
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
Pfam:MDFI
|
156 |
329 |
8.8e-73 |
PFAM |
|
Meta Mutation Damage Score |
0.1576 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
100% (40/40) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933407L21Rik |
T |
A |
1: 85,868,273 (GRCm39) |
|
probably null |
Het |
Ankdd1a |
C |
A |
9: 65,409,530 (GRCm39) |
G469W |
probably damaging |
Het |
Ano6 |
A |
C |
15: 95,792,330 (GRCm39) |
T65P |
possibly damaging |
Het |
Arhgap26 |
G |
A |
18: 39,363,019 (GRCm39) |
|
probably null |
Het |
Ccdc175 |
A |
G |
12: 72,182,822 (GRCm39) |
I399T |
possibly damaging |
Het |
Ceacam14 |
T |
A |
7: 17,548,063 (GRCm39) |
V51D |
probably damaging |
Het |
Cerk |
A |
T |
15: 86,033,532 (GRCm39) |
I297N |
possibly damaging |
Het |
Cps1 |
C |
A |
1: 67,204,659 (GRCm39) |
T493K |
possibly damaging |
Het |
Dmxl1 |
T |
A |
18: 50,011,326 (GRCm39) |
M1161K |
probably damaging |
Het |
Efcab14 |
T |
A |
4: 115,595,857 (GRCm39) |
M1K |
probably null |
Het |
Etl4 |
C |
T |
2: 20,534,772 (GRCm39) |
Q76* |
probably null |
Het |
Fmc1 |
T |
C |
6: 38,516,223 (GRCm39) |
S90P |
probably benign |
Het |
Fn1 |
T |
C |
1: 71,679,465 (GRCm39) |
Y511C |
probably damaging |
Het |
Foxd2 |
T |
C |
4: 114,765,483 (GRCm39) |
H179R |
unknown |
Het |
Hk2 |
C |
T |
6: 82,711,942 (GRCm39) |
D548N |
possibly damaging |
Het |
Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
Lrp5 |
G |
A |
19: 3,662,330 (GRCm39) |
R173C |
probably damaging |
Het |
Mapk12 |
A |
T |
15: 89,019,840 (GRCm39) |
H122Q |
possibly damaging |
Het |
Mycbp2 |
A |
G |
14: 103,412,233 (GRCm39) |
V2580A |
probably damaging |
Het |
Mylk3 |
A |
G |
8: 86,078,676 (GRCm39) |
I476T |
probably damaging |
Het |
Ncapg |
G |
A |
5: 45,831,705 (GRCm39) |
V184I |
probably benign |
Het |
Or4a71 |
T |
A |
2: 89,358,076 (GRCm39) |
H226L |
possibly damaging |
Het |
Pla2g15 |
A |
G |
8: 106,887,767 (GRCm39) |
Y185C |
probably damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rbm45 |
A |
G |
2: 76,205,768 (GRCm39) |
S207G |
probably benign |
Het |
Reln |
T |
C |
5: 22,115,847 (GRCm39) |
I3054V |
possibly damaging |
Het |
Rreb1 |
G |
T |
13: 38,077,941 (GRCm39) |
R51L |
probably damaging |
Het |
Scube2 |
A |
T |
7: 109,442,383 (GRCm39) |
|
probably benign |
Het |
Slc15a2 |
A |
G |
16: 36,602,666 (GRCm39) |
F65S |
probably damaging |
Het |
Slc17a8 |
G |
T |
10: 89,427,000 (GRCm39) |
|
probably benign |
Het |
Snapc4 |
G |
A |
2: 26,255,510 (GRCm39) |
Q1005* |
probably null |
Het |
Stag3 |
A |
G |
5: 138,297,101 (GRCm39) |
I550M |
probably damaging |
Het |
Steap4 |
G |
T |
5: 8,030,494 (GRCm39) |
R450L |
probably damaging |
Het |
Strn4 |
T |
C |
7: 16,556,923 (GRCm39) |
|
probably benign |
Het |
Stxbp3 |
C |
T |
3: 108,712,549 (GRCm39) |
|
probably null |
Het |
Syngr1 |
A |
G |
15: 80,000,240 (GRCm39) |
D117G |
probably damaging |
Het |
Tbc1d10b |
A |
T |
7: 126,798,967 (GRCm39) |
I513N |
possibly damaging |
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 |
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 |
R9491:Mdfic
|
UTSW |
6 |
15,799,852 (GRCm39) |
nonsense |
probably null |
|
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'- GACCAGCTTTTACCCAGACTC -3'
(R):5'- ATGGGAGTCTTACCATGCGC -3'
Sequencing Primer
(F):5'- CAGACTCTGGATAACACGTGTG -3'
(R):5'- GGAGTCTTACCATGCGCCTTTC -3'
|
Posted On |
2015-04-17 |