Incidental Mutation 'R8196:Mdfic'
| ID |
635445 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mdfic
|
| Ensembl Gene |
ENSMUSG00000041390 |
| Gene Name |
MyoD family inhibitor domain containing |
| Synonyms |
Kdt1, clone 1.5 |
| MMRRC Submission |
067619-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.361)
|
| Stock # |
R8196 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
15720660-15802168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 15740989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 115
(A115S)
|
| 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: A33S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099186
Gene: ENSMUSG00000041390
AA Change: A33S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MDFI
|
74 |
247 |
7.3e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120512
AA Change: A33S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113050
Gene: ENSMUSG00000041390
AA Change: A33S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MDFI
|
74 |
247 |
1.6e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125326
AA Change: A33S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000139704
Gene: ENSMUSG00000041390
AA Change: A33S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MDFI
|
74 |
175 |
6e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128849
AA Change: A28S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140516
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189359
AA Change: A33S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140208
Gene: ENSMUSG00000041390
AA Change: A33S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MDFI
|
74 |
247 |
1.6e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190255
AA Change: A115S
PolyPhen 2
Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000140641
Gene: ENSMUSG00000041390
AA Change: A115S
| 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: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (43/43) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17b |
T |
A |
19: 21,656,024 (GRCm39) |
V102D |
probably damaging |
Het |
| Adam6b |
T |
A |
12: 113,454,087 (GRCm39) |
D301E |
probably benign |
Het |
| Adnp |
A |
C |
2: 168,025,092 (GRCm39) |
D734E |
probably benign |
Het |
| Ank2 |
T |
A |
3: 126,723,532 (GRCm39) |
T932S |
probably damaging |
Het |
| Arhgap20 |
C |
A |
9: 51,760,277 (GRCm39) |
D709E |
possibly damaging |
Het |
| Atoh1 |
A |
G |
6: 64,707,226 (GRCm39) |
D307G |
probably benign |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| B3galt1 |
A |
G |
2: 67,948,530 (GRCm39) |
I82V |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,118,285 (GRCm39) |
D1111G |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,059,468 (GRCm39) |
D2089G |
probably benign |
Het |
| Dach1 |
T |
A |
14: 98,256,370 (GRCm39) |
H296L |
probably damaging |
Het |
| Dennd4b |
T |
G |
3: 90,178,904 (GRCm39) |
L556R |
probably damaging |
Het |
| Dop1a |
T |
A |
9: 86,405,151 (GRCm39) |
S326T |
probably benign |
Het |
| Eif2b5 |
T |
A |
16: 20,321,306 (GRCm39) |
H286Q |
probably damaging |
Het |
| Fcnb |
C |
T |
2: 27,968,330 (GRCm39) |
S209N |
possibly damaging |
Het |
| Fn3k |
T |
A |
11: 121,341,222 (GRCm39) |
F292L |
probably damaging |
Het |
| Gm1123 |
G |
A |
9: 98,905,309 (GRCm39) |
A67V |
probably benign |
Het |
| Hey2 |
C |
T |
10: 30,710,273 (GRCm39) |
C160Y |
probably benign |
Het |
| Jph2 |
T |
A |
2: 163,180,621 (GRCm39) |
|
probably null |
Het |
| Lars1 |
A |
G |
18: 42,343,166 (GRCm39) |
S1084P |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,276,497 (GRCm39) |
D6084G |
probably damaging |
Het |
| Mki67 |
T |
C |
7: 135,297,237 (GRCm39) |
E2599G |
probably damaging |
Het |
| Mtus1 |
A |
G |
8: 41,509,689 (GRCm39) |
S131P |
probably benign |
Het |
| Muc16 |
G |
T |
9: 18,556,630 (GRCm39) |
T3221K |
unknown |
Het |
| Or1q1 |
T |
A |
2: 36,886,873 (GRCm39) |
I17N |
possibly damaging |
Het |
| Or8b3 |
A |
G |
9: 38,314,904 (GRCm39) |
S245G |
probably damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pdgfc |
A |
G |
3: 80,944,811 (GRCm39) |
E23G |
possibly damaging |
Het |
| Pfkp |
T |
C |
13: 6,655,698 (GRCm39) |
T312A |
probably benign |
Het |
| Pxn |
A |
G |
5: 115,683,768 (GRCm39) |
E200G |
probably damaging |
Het |
| Rai1 |
C |
T |
11: 60,076,796 (GRCm39) |
H287Y |
probably damaging |
Het |
| Rap1gap |
G |
A |
4: 137,445,275 (GRCm39) |
V319I |
probably benign |
Het |
| Rbm46 |
C |
T |
3: 82,772,775 (GRCm39) |
R119Q |
probably benign |
Het |
| Selp |
A |
T |
1: 163,961,490 (GRCm39) |
D401V |
possibly damaging |
Het |
| Sh3bp5 |
A |
G |
14: 31,139,399 (GRCm39) |
V58A |
probably benign |
Het |
| Shpk |
A |
T |
11: 73,094,775 (GRCm39) |
I64F |
probably benign |
Het |
| Slmap |
A |
G |
14: 26,189,646 (GRCm39) |
Y171H |
probably damaging |
Het |
| Tmem67 |
T |
C |
4: 12,075,661 (GRCm39) |
T183A |
probably benign |
Het |
| Tyw1 |
G |
T |
5: 130,328,862 (GRCm39) |
L549F |
probably damaging |
Het |
| Uhrf2 |
T |
A |
19: 30,051,329 (GRCm39) |
M301K |
probably benign |
Het |
| Uvssa |
G |
A |
5: 33,568,311 (GRCm39) |
V532I |
probably benign |
Het |
| Vmn2r113 |
A |
T |
17: 23,176,938 (GRCm39) |
K574I |
probably damaging |
Het |
| Zfp52 |
A |
G |
17: 21,782,156 (GRCm39) |
N668S |
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 |
|
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 |
|
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'- CTTAACCTATGGCAGACTTGGAAGC -3'
(R):5'- TGTGTAGCAAAATTACTTGGGAAGG -3'
Sequencing Primer
(F):5'- CACCTATGATTCCAGTACTTGAGAGG -3'
(R):5'- AGCTGAAGGATTTGGCCA -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation