Incidental Mutation 'R6557:Map10'
| ID |
521903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map10
|
| Ensembl Gene |
ENSMUSG00000050930 |
| Gene Name |
microtubule-associated protein 10 |
| Synonyms |
4933403G14Rik |
| MMRRC Submission |
044681-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R6557 (G1)
|
| Quality Score |
213.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
126396557-126400098 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 126396991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 128
(V128A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053078]
|
| AlphaFold |
Q8BJS7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053078
AA Change: V128A
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000061679
Gene: ENSMUSG00000050930
AA Change: V128A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
91 |
N/A |
INTRINSIC |
|
Pfam:HPHLAWLY
|
243 |
535 |
1.4e-130 |
PFAM |
|
Pfam:HPHLAWLY
|
527 |
890 |
9.1e-133 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccn3 |
A |
T |
15: 54,611,323 (GRCm39) |
R153* |
probably null |
Het |
| Cxcl15 |
C |
T |
5: 90,942,425 (GRCm39) |
|
probably benign |
Het |
| Dysf |
A |
G |
6: 84,163,366 (GRCm39) |
D1580G |
probably damaging |
Het |
| Gpc5 |
A |
T |
14: 115,329,966 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,760,384 (GRCm39) |
I575V |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,491,231 (GRCm39) |
E174G |
possibly damaging |
Het |
| Hip1 |
T |
C |
5: 135,457,573 (GRCm39) |
D300G |
possibly damaging |
Het |
| Ica1l |
T |
C |
1: 60,036,784 (GRCm39) |
T336A |
probably benign |
Het |
| Ikzf3 |
C |
T |
11: 98,407,707 (GRCm39) |
A45T |
probably benign |
Het |
| Krtap16-1 |
T |
C |
11: 99,875,956 (GRCm39) |
S483G |
possibly damaging |
Het |
| Lamb2 |
T |
C |
9: 108,365,599 (GRCm39) |
L1394P |
probably damaging |
Het |
| Liph |
T |
A |
16: 21,802,670 (GRCm39) |
E133V |
possibly damaging |
Het |
| Mamdc2 |
A |
G |
19: 23,288,209 (GRCm39) |
S610P |
possibly damaging |
Het |
| Mon2 |
C |
A |
10: 122,852,307 (GRCm39) |
C1022F |
probably damaging |
Het |
| Nfatc3 |
T |
C |
8: 106,845,986 (GRCm39) |
S1039P |
probably benign |
Het |
| Or4f52 |
T |
C |
2: 111,061,976 (GRCm39) |
H54R |
probably benign |
Het |
| Scaper |
T |
C |
9: 55,458,134 (GRCm39) |
N879S |
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,136,736 (GRCm39) |
Y490H |
probably damaging |
Het |
| Tdrd5 |
T |
C |
1: 156,128,291 (GRCm39) |
K137R |
probably benign |
Het |
| Topaz1 |
A |
G |
9: 122,577,960 (GRCm39) |
N290S |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfp638 |
C |
A |
6: 83,907,092 (GRCm39) |
P419Q |
probably damaging |
Het |
| Zzz3 |
T |
A |
3: 152,134,097 (GRCm39) |
L385Q |
probably damaging |
Het |
|
| Other mutations in Map10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00813:Map10
|
APN |
8 |
126,398,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01567:Map10
|
APN |
8 |
126,398,232 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02566:Map10
|
APN |
8 |
126,398,494 (GRCm39) |
missense |
probably benign |
|
|
IGL03088:Map10
|
APN |
8 |
126,397,809 (GRCm39) |
missense |
probably benign |
0.14 |
|
debauched
|
UTSW |
8 |
126,397,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1083:Map10
|
UTSW |
8 |
126,397,178 (GRCm39) |
nonsense |
probably null |
|
|
R1543:Map10
|
UTSW |
8 |
126,397,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3155:Map10
|
UTSW |
8 |
126,398,313 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4076:Map10
|
UTSW |
8 |
126,398,584 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4559:Map10
|
UTSW |
8 |
126,398,553 (GRCm39) |
missense |
probably benign |
|
|
R4856:Map10
|
UTSW |
8 |
126,397,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4886:Map10
|
UTSW |
8 |
126,397,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5412:Map10
|
UTSW |
8 |
126,397,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Map10
|
UTSW |
8 |
126,399,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Map10
|
UTSW |
8 |
126,399,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6150:Map10
|
UTSW |
8 |
126,398,328 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6351:Map10
|
UTSW |
8 |
126,397,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6466:Map10
|
UTSW |
8 |
126,399,123 (GRCm39) |
nonsense |
probably null |
|
|
R6544:Map10
|
UTSW |
8 |
126,398,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6821:Map10
|
UTSW |
8 |
126,397,138 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7096:Map10
|
UTSW |
8 |
126,398,662 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7128:Map10
|
UTSW |
8 |
126,398,592 (GRCm39) |
missense |
probably benign |
|
|
R7177:Map10
|
UTSW |
8 |
126,398,584 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7237:Map10
|
UTSW |
8 |
126,397,963 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7814:Map10
|
UTSW |
8 |
126,398,350 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7819:Map10
|
UTSW |
8 |
126,397,260 (GRCm39) |
frame shift |
probably null |
|
|
R8202:Map10
|
UTSW |
8 |
126,397,647 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8812:Map10
|
UTSW |
8 |
126,396,664 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8859:Map10
|
UTSW |
8 |
126,397,291 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8947:Map10
|
UTSW |
8 |
126,397,839 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9178:Map10
|
UTSW |
8 |
126,397,649 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9698:Map10
|
UTSW |
8 |
126,398,723 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1088:Map10
|
UTSW |
8 |
126,398,670 (GRCm39) |
frame shift |
probably null |
|
|
Z1177:Map10
|
UTSW |
8 |
126,396,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTCAAGTCTCGCGAGGG -3'
(R):5'- CAGAGATGCCTTTGGTGCATG -3'
Sequencing Primer
(F):5'- GCTCTTCTCGCTGGAGCTG -3'
(R):5'- TGCATGGCTTCGAGGTCTCC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation