Incidental Mutation 'R7959:Mdfic'
| ID |
649998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mdfic
|
| Ensembl Gene |
ENSMUSG00000041390 |
| Gene Name |
MyoD family inhibitor domain containing |
| Synonyms |
Kdt1, clone 1.5 |
| MMRRC Submission |
046003-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.361)
|
| Stock # |
R7959 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
15720660-15802168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15741070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 142
(S142P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101663]
[ENSMUST00000120512]
[ENSMUST00000125326]
[ENSMUST00000128849]
[ENSMUST00000140516]
[ENSMUST00000189359]
[ENSMUST00000190255]
|
| AlphaFold |
Q8BX65 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101663
AA Change: S60P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000099186
Gene: ENSMUSG00000041390
AA Change: S60P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MDFI
|
74 |
247 |
7.3e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120512
AA Change: S60P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000113050
Gene: ENSMUSG00000041390
AA Change: S60P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MDFI
|
74 |
247 |
1.6e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125326
AA Change: S60P
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000139704
Gene: ENSMUSG00000041390
AA Change: S60P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MDFI
|
74 |
175 |
6e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128849
AA Change: S55P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140516
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189359
AA Change: S60P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000140208
Gene: ENSMUSG00000041390
AA Change: S60P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MDFI
|
74 |
247 |
1.6e-76 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190255
AA Change: S142P
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140641
Gene: ENSMUSG00000041390
AA Change: S142P
| 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: 100.0%
- 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,988,013 (GRCm39) |
V3099A |
possibly damaging |
Het |
| Apba2 |
A |
G |
7: 64,345,571 (GRCm39) |
M254V |
probably benign |
Het |
| Bbs7 |
C |
T |
3: 36,657,085 (GRCm39) |
D248N |
probably damaging |
Het |
| Ccdc168 |
T |
C |
1: 44,096,728 (GRCm39) |
I1457V |
probably benign |
Het |
| Cldn8 |
A |
G |
16: 88,359,829 (GRCm39) |
V32A |
probably damaging |
Het |
| Col4a4 |
G |
T |
1: 82,484,780 (GRCm39) |
P496T |
unknown |
Het |
| Cyp27a1 |
T |
A |
1: 74,776,236 (GRCm39) |
N417K |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,682,621 (GRCm39) |
D283G |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,933,627 (GRCm39) |
K4878E |
probably damaging |
Het |
| Elp1 |
A |
T |
4: 56,774,737 (GRCm39) |
M746K |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,195,967 (GRCm39) |
Y556N |
unknown |
Het |
| Fsip2 |
T |
C |
2: 82,816,120 (GRCm39) |
I3951T |
possibly damaging |
Het |
| Gigyf1 |
C |
T |
5: 137,522,581 (GRCm39) |
T773I |
probably damaging |
Het |
| Heatr6 |
A |
T |
11: 83,672,189 (GRCm39) |
K1066* |
probably null |
Het |
| Mettl16 |
A |
G |
11: 74,707,852 (GRCm39) |
I389V |
probably benign |
Het |
| Mia3 |
T |
C |
1: 183,125,760 (GRCm39) |
Y57C |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Nup160 |
T |
C |
2: 90,544,239 (GRCm39) |
|
probably null |
Het |
| Or1e1 |
T |
C |
11: 73,244,744 (GRCm39) |
L55P |
probably damaging |
Het |
| Or2n1e |
A |
G |
17: 38,586,602 (GRCm39) |
*313W |
probably null |
Het |
| Or52a24 |
T |
A |
7: 103,382,015 (GRCm39) |
V294D |
probably damaging |
Het |
| Or8b1b |
T |
A |
9: 38,376,211 (GRCm39) |
S291R |
probably damaging |
Het |
| Or9s13 |
T |
A |
1: 92,548,029 (GRCm39) |
C134S |
probably damaging |
Het |
| Pierce1 |
A |
T |
2: 28,352,369 (GRCm39) |
N131K |
probably damaging |
Het |
| Plcxd1 |
A |
T |
5: 110,251,422 (GRCm39) |
I333F |
probably damaging |
Het |
| Plxna2 |
C |
A |
1: 194,493,270 (GRCm39) |
S1848R |
probably damaging |
Het |
| Plxna2 |
AT |
A |
1: 194,476,172 (GRCm39) |
|
probably null |
Het |
| Pnpla2 |
T |
A |
7: 141,037,406 (GRCm39) |
D136E |
probably benign |
Het |
| Polr1b |
T |
A |
2: 128,950,014 (GRCm39) |
F245I |
probably damaging |
Het |
| Prmt9 |
T |
A |
8: 78,287,594 (GRCm39) |
I245N |
probably damaging |
Het |
| Serhl |
A |
T |
15: 82,986,073 (GRCm39) |
D62V |
probably damaging |
Het |
| Sh3rf3 |
A |
T |
10: 58,842,925 (GRCm39) |
D297V |
probably damaging |
Het |
| Spata13 |
C |
T |
14: 60,993,679 (GRCm39) |
R1044* |
probably null |
Het |
| Strbp |
G |
A |
2: 37,530,906 (GRCm39) |
T116I |
probably benign |
Het |
| Supt5 |
T |
C |
7: 28,015,224 (GRCm39) |
D977G |
probably benign |
Het |
| Tmem184c |
A |
G |
8: 78,329,532 (GRCm39) |
V176A |
possibly damaging |
Het |
| Uhrf2 |
A |
G |
19: 30,063,660 (GRCm39) |
N541S |
probably damaging |
Het |
| Vmn2r24 |
T |
A |
6: 123,755,949 (GRCm39) |
F7Y |
possibly damaging |
Het |
| Vmn2r27 |
T |
C |
6: 124,169,040 (GRCm39) |
R697G |
probably benign |
Het |
| Zfp994 |
A |
G |
17: 22,421,761 (GRCm39) |
V18A |
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 |
|
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 |
|
|
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'- CCTATGGCAGACTTGGAAGCAG -3'
(R):5'- TTAGCTCTGATGGTTATAGCACC -3'
Sequencing Primer
(F):5'- GTCATCAGCTACATGGAGAGTTCC -3'
(R):5'- TGGTTATAGCACCAATAGAAACAC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation