Incidental Mutation 'R1083:Map10'
| ID |
84926 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map10
|
| Ensembl Gene |
ENSMUSG00000050930 |
| Gene Name |
microtubule-associated protein 10 |
| Synonyms |
4933403G14Rik |
| MMRRC Submission |
039169-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R1083 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
126396557-126400098 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 126397178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 190
(C190*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053078]
|
| AlphaFold |
Q8BJS7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000053078
AA Change: C190*
|
| SMART Domains |
Protein: ENSMUSP00000061679
Gene: ENSMUSG00000050930
AA Change: C190*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.0%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
T |
C |
6: 92,805,046 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
G |
A |
7: 66,797,322 (GRCm39) |
C986Y |
probably damaging |
Het |
| AI987944 |
A |
G |
7: 41,024,763 (GRCm39) |
V75A |
probably benign |
Het |
| Arhgap10 |
T |
C |
8: 78,244,378 (GRCm39) |
Y12C |
probably damaging |
Het |
| Atp11b |
G |
A |
3: 35,832,162 (GRCm39) |
|
probably benign |
Het |
| Ccer1 |
T |
A |
10: 97,530,520 (GRCm39) |
D394E |
possibly damaging |
Het |
| Cdh2 |
T |
C |
18: 16,777,016 (GRCm39) |
N273S |
possibly damaging |
Het |
| Cfap65 |
G |
T |
1: 74,957,663 (GRCm39) |
|
probably benign |
Het |
| Crybb3 |
A |
T |
5: 113,228,444 (GRCm39) |
|
probably benign |
Het |
| D7Ertd443e |
G |
A |
7: 133,950,663 (GRCm39) |
Q337* |
probably null |
Het |
| Dixdc1 |
C |
T |
9: 50,588,293 (GRCm39) |
|
probably benign |
Het |
| Dut |
GCGGC |
GCGGCCGGC |
2: 125,089,748 (GRCm39) |
|
probably null |
Het |
| Fbxo2 |
A |
G |
4: 148,250,234 (GRCm39) |
|
probably null |
Het |
| Gm5174 |
T |
C |
10: 86,491,972 (GRCm39) |
|
noncoding transcript |
Het |
| Gpam |
A |
G |
19: 55,076,643 (GRCm39) |
|
probably benign |
Het |
| Il12a |
C |
T |
3: 68,602,666 (GRCm39) |
T112M |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,487,657 (GRCm39) |
V2361D |
possibly damaging |
Het |
| Jag1 |
G |
A |
2: 136,938,152 (GRCm39) |
L283F |
probably damaging |
Het |
| Lamb2 |
A |
C |
9: 108,360,892 (GRCm39) |
D538A |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,498,843 (GRCm39) |
R1552H |
probably damaging |
Het |
| Phf1 |
T |
C |
17: 27,156,244 (GRCm39) |
|
probably benign |
Het |
| Pitx2 |
A |
G |
3: 129,012,418 (GRCm39) |
T276A |
probably damaging |
Het |
| Pparg |
A |
G |
6: 115,467,107 (GRCm39) |
D490G |
probably damaging |
Het |
| Rnf10 |
A |
T |
5: 115,398,163 (GRCm39) |
|
probably benign |
Het |
| Sbp |
T |
C |
17: 24,161,704 (GRCm39) |
|
probably benign |
Het |
| Setbp1 |
A |
T |
18: 78,900,841 (GRCm39) |
L942H |
probably damaging |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Sfmbt1 |
A |
T |
14: 30,509,498 (GRCm39) |
N326Y |
possibly damaging |
Het |
| Slx4 |
G |
A |
16: 3,808,774 (GRCm39) |
Q389* |
probably null |
Het |
| Srrm3 |
T |
A |
5: 135,883,263 (GRCm39) |
V206E |
probably damaging |
Het |
| Sspo |
T |
A |
6: 48,447,933 (GRCm39) |
D2270E |
possibly damaging |
Het |
| Sulf1 |
AAGGGA |
AAGGGAGGGA |
1: 12,906,388 (GRCm39) |
|
probably null |
Het |
| Vmn1r14 |
T |
A |
6: 57,211,184 (GRCm39) |
I210N |
probably damaging |
Het |
| Wasf3 |
T |
G |
5: 146,372,182 (GRCm39) |
L13R |
probably damaging |
Het |
| Yes1 |
T |
C |
5: 32,809,101 (GRCm39) |
|
probably null |
Het |
| Zfp292 |
T |
C |
4: 34,807,569 (GRCm39) |
D1830G |
probably damaging |
Het |
| Zfp541 |
A |
G |
7: 15,812,637 (GRCm39) |
N430S |
probably benign |
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 |
|
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 |
|
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'- TCTTCTATCGCCTGACCGAACTGG -3'
(R):5'- CCTGGCTGAAGGAGTCTTTTCCTG -3'
Sequencing Primer
(F):5'- CCGAACTGGGACGCTTTTC -3'
(R):5'- TGTGACATCCTGACTGACAG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation