Incidental Mutation 'R0006:Msantd4'
| ID |
19156 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msantd4
|
| Ensembl Gene |
ENSMUSG00000041124 |
| Gene Name |
Myb/SANT-like DNA-binding domain containing 4 with coiled-coils |
| Synonyms |
8430410K20Rik |
| MMRRC Submission |
041980-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.239)
|
| Stock # |
R0006 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
4376562-4386870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4384099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 140
(E140G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047173]
[ENSMUST00000212075]
|
| AlphaFold |
Q91YU3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047173
AA Change: E140G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038267
Gene: ENSMUSG00000041124
AA Change: E140G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myb_DNA-bind_5
|
8 |
86 |
7.6e-26 |
PFAM |
|
low complexity region
|
154 |
162 |
N/A |
INTRINSIC |
|
coiled coil region
|
202 |
344 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212075
AA Change: E140G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.1221 |
| Coding Region Coverage |
- 1x: 77.9%
- 3x: 66.3%
- 10x: 36.9%
- 20x: 17.4%
|
| Validation Efficiency |
95% (74/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Appl2 |
A |
G |
10: 83,438,762 (GRCm39) |
F556L |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 4,992,030 (GRCm39) |
S210T |
possibly damaging |
Het |
| Aurka |
A |
G |
2: 172,201,673 (GRCm39) |
|
probably null |
Het |
| Chd8 |
A |
G |
14: 52,472,750 (GRCm39) |
I351T |
possibly damaging |
Het |
| Chid1 |
T |
A |
7: 141,076,339 (GRCm39) |
|
probably benign |
Het |
| Dnase2b |
T |
A |
3: 146,288,244 (GRCm39) |
I284F |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,267,999 (GRCm39) |
T5325I |
probably benign |
Het |
| Erbb3 |
A |
G |
10: 128,409,279 (GRCm39) |
|
probably null |
Het |
| Fancl |
A |
G |
11: 26,419,695 (GRCm39) |
N316S |
possibly damaging |
Het |
| Gabrd |
C |
A |
4: 155,473,058 (GRCm39) |
V72L |
probably damaging |
Het |
| Hephl1 |
T |
A |
9: 14,988,060 (GRCm39) |
T683S |
probably benign |
Het |
| Jazf1 |
A |
G |
6: 52,871,071 (GRCm39) |
|
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,927,201 (GRCm39) |
S1219T |
probably benign |
Het |
| L3mbtl1 |
A |
T |
2: 162,806,489 (GRCm39) |
Y460F |
possibly damaging |
Het |
| Map1b |
C |
T |
13: 99,571,810 (GRCm39) |
V304M |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,525,988 (GRCm39) |
K843E |
probably damaging |
Het |
| Rap1gds1 |
G |
T |
3: 138,689,632 (GRCm39) |
|
probably null |
Het |
| Rsph4a |
T |
C |
10: 33,785,144 (GRCm39) |
C148R |
probably damaging |
Het |
| Slc7a9 |
A |
T |
7: 35,169,525 (GRCm39) |
|
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,073,855 (GRCm39) |
S1405P |
probably damaging |
Het |
| Tex35 |
T |
C |
1: 156,927,314 (GRCm39) |
K154E |
possibly damaging |
Het |
| Tpm3 |
T |
A |
3: 89,994,968 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,158,960 (GRCm39) |
F2438L |
probably benign |
Het |
| Wfdc8 |
T |
C |
2: 164,440,984 (GRCm39) |
D253G |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,841,861 (GRCm39) |
|
probably benign |
Het |
| Zfp687 |
A |
G |
3: 94,918,767 (GRCm39) |
I335T |
probably damaging |
Het |
|
| Other mutations in Msantd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02021:Msantd4
|
APN |
9 |
4,385,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02347:Msantd4
|
APN |
9 |
4,384,734 (GRCm39) |
splice site |
probably benign |
|
|
IGL02947:Msantd4
|
APN |
9 |
4,384,787 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02949:Msantd4
|
APN |
9 |
4,385,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4548:Msantd4
|
UTSW |
9 |
4,384,937 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
FR4976:Msantd4
|
UTSW |
9 |
4,384,937 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0436:Msantd4
|
UTSW |
9 |
4,385,180 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1403:Msantd4
|
UTSW |
9 |
4,384,023 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1403:Msantd4
|
UTSW |
9 |
4,384,023 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1512:Msantd4
|
UTSW |
9 |
4,384,138 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1639:Msantd4
|
UTSW |
9 |
4,385,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3819:Msantd4
|
UTSW |
9 |
4,385,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6021:Msantd4
|
UTSW |
9 |
4,384,063 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6982:Msantd4
|
UTSW |
9 |
4,384,061 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8166:Msantd4
|
UTSW |
9 |
4,384,095 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8753:Msantd4
|
UTSW |
9 |
4,385,013 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9510:Msantd4
|
UTSW |
9 |
4,385,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-03-25 |
Incidental Mutation