Incidental Mutation 'R3155:Map10'
| ID |
263463 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map10
|
| Ensembl Gene |
ENSMUSG00000050930 |
| Gene Name |
microtubule-associated protein 10 |
| Synonyms |
4933403G14Rik |
| MMRRC Submission |
040606-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R3155 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
126396557-126400098 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 126398313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 569
(I569F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053078]
|
| AlphaFold |
Q8BJS7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053078
AA Change: I569F
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000061679
Gene: ENSMUSG00000050930
AA Change: I569F
| 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 |
|
| Meta Mutation Damage Score |
0.0776 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933407L21Rik |
T |
C |
1: 85,859,104 (GRCm39) |
|
probably benign |
Het |
| Aco1 |
T |
C |
4: 40,182,915 (GRCm39) |
V487A |
probably damaging |
Het |
| Adh1 |
A |
G |
3: 137,986,250 (GRCm39) |
E79G |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,821,425 (GRCm39) |
N608S |
probably benign |
Het |
| Ahctf1 |
G |
A |
1: 179,583,148 (GRCm39) |
R43C |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,987,541 (GRCm39) |
I2942L |
possibly damaging |
Het |
| Anxa9 |
A |
T |
3: 95,209,716 (GRCm39) |
D134E |
probably benign |
Het |
| Ccdc14 |
A |
G |
16: 34,544,222 (GRCm39) |
D860G |
probably damaging |
Het |
| Cdhr3 |
T |
A |
12: 33,099,152 (GRCm39) |
I480F |
possibly damaging |
Het |
| Cldn34a |
C |
T |
X: 151,346,840 (GRCm39) |
H171Y |
probably benign |
Het |
| Cyp2d9 |
T |
A |
15: 82,336,843 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
T |
A |
7: 130,651,887 (GRCm39) |
Y376* |
probably null |
Het |
| Fancm |
T |
C |
12: 65,163,195 (GRCm39) |
I1453T |
probably benign |
Het |
| Fbxw11 |
A |
G |
11: 32,689,244 (GRCm39) |
I456V |
possibly damaging |
Het |
| Fut2 |
A |
T |
7: 45,300,091 (GRCm39) |
L227Q |
probably damaging |
Het |
| Gbp5 |
T |
C |
3: 142,208,888 (GRCm39) |
|
probably null |
Het |
| Glrp1 |
C |
A |
1: 88,430,976 (GRCm39) |
Q131H |
unknown |
Het |
| Gm6871 |
T |
C |
7: 41,223,079 (GRCm39) |
N3S |
probably benign |
Het |
| H2-Eb1 |
C |
A |
17: 34,533,348 (GRCm39) |
T190K |
probably damaging |
Het |
| Kdr |
T |
A |
5: 76,129,065 (GRCm39) |
I194F |
probably benign |
Het |
| Klhdc7a |
A |
G |
4: 139,694,500 (GRCm39) |
V149A |
probably benign |
Het |
| Lrit3 |
A |
G |
3: 129,585,044 (GRCm39) |
F238S |
probably benign |
Het |
| Myh6 |
A |
G |
14: 55,182,125 (GRCm39) |
I1761T |
probably damaging |
Het |
| Npc1l1 |
A |
C |
11: 6,171,840 (GRCm39) |
D874E |
probably benign |
Het |
| Or4k15c |
T |
C |
14: 50,321,982 (GRCm39) |
D52G |
probably benign |
Het |
| Or8c17 |
T |
A |
9: 38,179,836 (GRCm39) |
M1K |
probably null |
Het |
| Pawr |
A |
G |
10: 108,245,370 (GRCm39) |
T193A |
probably benign |
Het |
| Ppp2r3d |
T |
C |
9: 101,089,559 (GRCm39) |
K255E |
possibly damaging |
Het |
| Rbp3 |
A |
T |
14: 33,679,071 (GRCm39) |
K1006N |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rin2 |
A |
G |
2: 145,702,771 (GRCm39) |
K489R |
probably benign |
Het |
| Rlf |
A |
G |
4: 121,006,529 (GRCm39) |
V817A |
probably damaging |
Het |
| Rusc1 |
T |
C |
3: 88,999,038 (GRCm39) |
D248G |
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Stk4 |
T |
A |
2: 163,993,663 (GRCm39) |
M98K |
probably benign |
Het |
| Taf15 |
T |
A |
11: 83,393,599 (GRCm39) |
H307Q |
probably benign |
Het |
| Urgcp |
A |
T |
11: 5,666,327 (GRCm39) |
F670L |
probably damaging |
Het |
| Vmn2r76 |
T |
C |
7: 85,874,959 (GRCm39) |
T673A |
probably damaging |
Het |
| Zfp324 |
G |
A |
7: 12,702,817 (GRCm39) |
M60I |
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 |
|
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 |
|
R6557:Map10
|
UTSW |
8 |
126,396,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- TACAAGCTGTGGGGCCAAAG -3'
(R):5'- CCCCGAAACTATTTGATCGAAG -3'
Sequencing Primer
(F):5'- TTGCGAATCCCCTCCTGGAAAG -3'
(R):5'- CGAAGAGATCTTTCTGGGGTGACAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation