Incidental Mutation 'R2496:Mdfic'
| ID |
251179 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mdfic
|
| Ensembl Gene |
ENSMUSG00000041390 |
| Gene Name |
MyoD family inhibitor domain containing |
| Synonyms |
Kdt1, clone 1.5 |
| MMRRC Submission |
040410-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.423)
|
| Stock # |
R2496 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
15720660-15802168 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 15741041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 45
(H45L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140800
(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: H50L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099186
Gene: ENSMUSG00000041390
AA Change: H50L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MDFI
|
74 |
247 |
7.3e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120512
AA Change: H50L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113050
Gene: ENSMUSG00000041390
AA Change: H50L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MDFI
|
74 |
247 |
1.6e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125326
AA Change: H50L
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000139704
Gene: ENSMUSG00000041390
AA Change: H50L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MDFI
|
74 |
175 |
6e-16 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000128849
AA Change: H45L
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140516
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189359
AA Change: H50L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140208
Gene: ENSMUSG00000041390
AA Change: H50L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MDFI
|
74 |
247 |
1.6e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190255
AA Change: H132L
PolyPhen 2
Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000140641
Gene: ENSMUSG00000041390
AA Change: H132L
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
C |
7: 78,761,065 (GRCm39) |
W1926R |
probably damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,023,063 (GRCm39) |
T106A |
probably benign |
Het |
| Baz1b |
G |
A |
5: 135,239,629 (GRCm39) |
R243Q |
probably damaging |
Het |
| Cdhr3 |
A |
G |
12: 33,099,068 (GRCm39) |
Y508H |
probably benign |
Het |
| Cyp2d9 |
T |
A |
15: 82,336,680 (GRCm39) |
W10R |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,013,858 (GRCm39) |
T1549A |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 31,070,705 (GRCm39) |
R4464W |
probably damaging |
Het |
| Dpp4 |
G |
A |
2: 62,217,477 (GRCm39) |
T40M |
possibly damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,607,654 (GRCm39) |
H2723R |
possibly damaging |
Het |
| E2f3 |
C |
T |
13: 30,095,289 (GRCm39) |
S333N |
probably damaging |
Het |
| Fam120a |
G |
T |
13: 49,121,069 (GRCm39) |
A79E |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,877,399 (GRCm39) |
S3405P |
probably benign |
Het |
| Gaa |
T |
C |
11: 119,174,531 (GRCm39) |
S793P |
possibly damaging |
Het |
| Galc |
A |
C |
12: 98,193,540 (GRCm39) |
F350V |
probably damaging |
Het |
| Garre1 |
A |
G |
7: 33,955,916 (GRCm39) |
V391A |
possibly damaging |
Het |
| Gm136 |
A |
G |
4: 34,746,541 (GRCm39) |
C157R |
probably damaging |
Het |
| Gm3327 |
A |
C |
14: 44,363,720 (GRCm39) |
N108T |
unknown |
Het |
| H2-M10.2 |
A |
G |
17: 36,596,771 (GRCm39) |
Y102H |
possibly damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,490,972 (GRCm39) |
D4192E |
probably benign |
Het |
| Hpse2 |
A |
C |
19: 43,001,482 (GRCm39) |
|
probably null |
Het |
| Idh3a |
T |
C |
9: 54,510,633 (GRCm39) |
V362A |
probably benign |
Het |
| Kdm7a |
A |
T |
6: 39,147,697 (GRCm39) |
|
probably null |
Het |
| Krt6b |
A |
G |
15: 101,588,216 (GRCm39) |
V148A |
probably damaging |
Het |
| Lrba |
G |
A |
3: 86,439,394 (GRCm39) |
R1977H |
probably damaging |
Het |
| Magi2 |
A |
T |
5: 19,883,750 (GRCm39) |
Y134F |
probably benign |
Het |
| Mamdc4 |
T |
C |
2: 25,455,914 (GRCm39) |
Y801C |
probably damaging |
Het |
| Maml1 |
T |
C |
11: 50,149,371 (GRCm39) |
T790A |
probably benign |
Het |
| Map3k19 |
A |
G |
1: 127,750,823 (GRCm39) |
Y843H |
probably damaging |
Het |
| Mlx |
C |
T |
11: 100,979,080 (GRCm39) |
T87I |
probably benign |
Het |
| Mms22l |
T |
A |
4: 24,521,269 (GRCm39) |
I382K |
probably benign |
Het |
| Mtf1 |
A |
G |
4: 124,732,697 (GRCm39) |
N585S |
probably benign |
Het |
| Mylk2 |
C |
T |
2: 152,755,588 (GRCm39) |
P251S |
probably damaging |
Het |
| Myorg |
A |
G |
4: 41,499,165 (GRCm39) |
V155A |
probably benign |
Het |
| Nox4 |
A |
T |
7: 86,955,958 (GRCm39) |
T157S |
probably benign |
Het |
| Oas2 |
A |
T |
5: 120,886,682 (GRCm39) |
H161Q |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,994,268 (GRCm39) |
V1563E |
probably damaging |
Het |
| Or2n1b |
T |
C |
17: 38,460,322 (GRCm39) |
V281A |
possibly damaging |
Het |
| Or55b3 |
T |
C |
7: 102,126,354 (GRCm39) |
K241R |
probably damaging |
Het |
| Or6c203 |
A |
C |
10: 129,009,966 (GRCm39) |
F308C |
probably benign |
Het |
| Pcdhb11 |
T |
A |
18: 37,555,375 (GRCm39) |
I235N |
probably benign |
Het |
| Pcsk5 |
A |
T |
19: 17,443,522 (GRCm39) |
C1212* |
probably null |
Het |
| Ptges |
C |
T |
2: 30,782,722 (GRCm39) |
G110D |
possibly damaging |
Het |
| Rsph4a |
A |
T |
10: 33,784,094 (GRCm39) |
I239L |
possibly damaging |
Het |
| Setx |
A |
G |
2: 29,034,813 (GRCm39) |
I433V |
probably benign |
Het |
| Smyd4 |
T |
C |
11: 75,281,927 (GRCm39) |
S467P |
probably benign |
Het |
| Snai2 |
A |
T |
16: 14,523,866 (GRCm39) |
H10L |
possibly damaging |
Het |
| Snw1 |
T |
C |
12: 87,497,589 (GRCm39) |
I467V |
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,883,420 (GRCm39) |
C301S |
probably damaging |
Het |
| Tax1bp1 |
T |
A |
6: 52,735,342 (GRCm39) |
|
probably null |
Het |
| Tmem70 |
C |
A |
1: 16,735,575 (GRCm39) |
P15Q |
probably benign |
Het |
| Tmem87a |
T |
C |
2: 120,224,859 (GRCm39) |
E134G |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,200,516 (GRCm39) |
|
probably benign |
Het |
| Ugt2b37 |
C |
T |
5: 87,402,569 (GRCm39) |
V21M |
probably damaging |
Het |
| Ugt2b38 |
T |
A |
5: 87,569,551 (GRCm39) |
I259F |
probably damaging |
Het |
| Zfp804a |
T |
A |
2: 82,066,188 (GRCm39) |
L53Q |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCTATGGCAGACTTGGAAGC -3'
(R):5'- ACTTTCAGACTTAGAGATGTGTAGC -3'
Sequencing Primer
(F):5'- GTCATCAGCTACATGGAGAGTTCC -3'
(R):5'- TGTGTAGCAAAATTACTTGGGAAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation