Incidental Mutation 'IGL03177:Mdfic'
| ID |
412048 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mdfic
|
| Ensembl Gene |
ENSMUSG00000041390 |
| Gene Name |
MyoD family inhibitor domain containing |
| Synonyms |
Kdt1, clone 1.5 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.361)
|
| Stock # |
IGL03177
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
15720660-15802168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15770450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 152
(V152A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101663]
[ENSMUST00000120512]
[ENSMUST00000125326]
[ENSMUST00000128849]
[ENSMUST00000140516]
[ENSMUST00000189359]
[ENSMUST00000190255]
|
| AlphaFold |
Q8BX65 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101663
AA Change: V152A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099186
Gene: ENSMUSG00000041390
AA Change: V152A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MDFI
|
74 |
247 |
7.3e-74 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120512
AA Change: V152A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113050
Gene: ENSMUSG00000041390
AA Change: V152A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MDFI
|
74 |
247 |
1.6e-76 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125326
AA Change: V152A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139704
Gene: ENSMUSG00000041390
AA Change: V152A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MDFI
|
74 |
175 |
6e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128849
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140516
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189359
AA Change: V152A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140208
Gene: ENSMUSG00000041390
AA Change: V152A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MDFI
|
74 |
247 |
1.6e-76 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190255
AA Change: V234A
PolyPhen 2
Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000140641
Gene: ENSMUSG00000041390
AA Change: V234A
| 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 |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg2 |
T |
C |
X: 159,221,259 (GRCm39) |
I23T |
possibly damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Anxa7 |
T |
C |
14: 20,506,654 (GRCm39) |
I451V |
probably benign |
Het |
| Capn10 |
T |
C |
1: 92,862,704 (GRCm39) |
F37L |
probably benign |
Het |
| Cyp4f13 |
A |
G |
17: 33,165,888 (GRCm39) |
I30T |
possibly damaging |
Het |
| Ddx27 |
A |
G |
2: 166,869,840 (GRCm39) |
N392D |
possibly damaging |
Het |
| Dhx30 |
T |
C |
9: 109,917,078 (GRCm39) |
H479R |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,295,545 (GRCm39) |
Y1426C |
probably damaging |
Het |
| Dnajc2 |
A |
G |
5: 21,980,079 (GRCm39) |
|
probably benign |
Het |
| Fbxw8 |
C |
A |
5: 118,267,045 (GRCm39) |
|
probably benign |
Het |
| Grik5 |
G |
A |
7: 24,714,879 (GRCm39) |
T705I |
probably damaging |
Het |
| H2ac4 |
T |
A |
13: 23,935,509 (GRCm39) |
|
probably benign |
Het |
| H2-M3 |
G |
T |
17: 37,581,207 (GRCm39) |
V19F |
possibly damaging |
Het |
| Hapln2 |
C |
A |
3: 87,930,078 (GRCm39) |
C266F |
probably damaging |
Het |
| Hspbp1 |
A |
T |
7: 4,667,700 (GRCm39) |
|
probably null |
Het |
| Jak3 |
T |
A |
8: 72,135,014 (GRCm39) |
V549D |
probably damaging |
Het |
| Mark1 |
A |
G |
1: 184,677,104 (GRCm39) |
S49P |
probably damaging |
Het |
| Mgat4a |
C |
A |
1: 37,483,968 (GRCm39) |
V501L |
probably damaging |
Het |
| Mlxip |
C |
A |
5: 123,584,044 (GRCm39) |
P536T |
possibly damaging |
Het |
| Mrpl2 |
A |
T |
17: 46,959,963 (GRCm39) |
T213S |
probably damaging |
Het |
| Nos1ap |
C |
A |
1: 170,218,299 (GRCm39) |
|
probably null |
Het |
| Or4a74 |
C |
T |
2: 89,439,826 (GRCm39) |
V207I |
probably benign |
Het |
| Or6c1b |
T |
C |
10: 129,272,684 (GRCm39) |
M1T |
probably null |
Het |
| Or8b50 |
T |
A |
9: 38,517,867 (GRCm39) |
Y35* |
probably null |
Het |
| P2rx2 |
T |
C |
5: 110,489,479 (GRCm39) |
I251V |
probably damaging |
Het |
| Parva |
T |
A |
7: 112,172,140 (GRCm39) |
|
probably benign |
Het |
| Phf10 |
G |
A |
17: 15,166,493 (GRCm39) |
T459I |
probably damaging |
Het |
| Prg4 |
T |
A |
1: 150,331,354 (GRCm39) |
|
probably benign |
Het |
| Pum3 |
A |
T |
19: 27,367,612 (GRCm39) |
I639N |
probably benign |
Het |
| Rlf |
T |
A |
4: 121,005,276 (GRCm39) |
K1235* |
probably null |
Het |
| Ryr3 |
T |
A |
2: 112,859,016 (GRCm39) |
I46F |
probably benign |
Het |
| Sall3 |
A |
G |
18: 81,016,183 (GRCm39) |
S582P |
probably benign |
Het |
| Scn3b |
A |
C |
9: 40,181,338 (GRCm39) |
Y17S |
probably benign |
Het |
| Senp8 |
A |
G |
9: 59,644,611 (GRCm39) |
C169R |
probably damaging |
Het |
| Sgsm1 |
C |
T |
5: 113,398,859 (GRCm39) |
A1025T |
probably damaging |
Het |
| Six1 |
T |
C |
12: 73,090,514 (GRCm39) |
E217G |
possibly damaging |
Het |
| Slc38a8 |
T |
C |
8: 120,212,251 (GRCm39) |
D364G |
probably damaging |
Het |
| Stk10 |
A |
T |
11: 32,564,592 (GRCm39) |
E801V |
probably damaging |
Het |
| Ston2 |
A |
T |
12: 91,614,431 (GRCm39) |
I659N |
probably damaging |
Het |
| Stxbp4 |
T |
C |
11: 90,462,579 (GRCm39) |
Q331R |
probably benign |
Het |
| Synpo2 |
A |
T |
3: 122,914,864 (GRCm39) |
V54E |
probably damaging |
Het |
| Tax1bp1 |
A |
G |
6: 52,713,932 (GRCm39) |
D237G |
possibly damaging |
Het |
| Tmigd1 |
T |
C |
11: 76,797,774 (GRCm39) |
Y39H |
probably benign |
Het |
| Vmn1r15 |
A |
G |
6: 57,235,458 (GRCm39) |
T109A |
probably benign |
Het |
| Vmn1r209 |
T |
C |
13: 22,990,024 (GRCm39) |
Y222C |
possibly damaging |
Het |
| Zfp809 |
A |
G |
9: 22,146,347 (GRCm39) |
D12G |
probably 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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation