Incidental Mutation 'R6630:Map1s'
| ID |
525056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map1s
|
| Ensembl Gene |
ENSMUSG00000019261 |
| Gene Name |
microtubule-associated protein 1S |
| Synonyms |
VCY2IP1, Mtap1s, Map8, 6430517J16Rik, Bpy2ip1 |
| MMRRC Submission |
044752-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6630 (G1)
|
| Quality Score |
137.008 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
71358618-71370173 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71366442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 449
(V449A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019405]
[ENSMUST00000211910]
[ENSMUST00000212227]
[ENSMUST00000212511]
[ENSMUST00000213001]
|
| AlphaFold |
Q8C052 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019405
AA Change: V449A
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000019405
Gene: ENSMUSG00000019261
AA Change: V449A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
225 |
N/A |
INTRINSIC |
|
SCOP:d1e5da2
|
237 |
300 |
2e-3 |
SMART |
|
Blast:Lactamase_B
|
244 |
475 |
1e-85 |
BLAST |
|
low complexity region
|
536 |
550 |
N/A |
INTRINSIC |
|
low complexity region
|
597 |
621 |
N/A |
INTRINSIC |
|
low complexity region
|
679 |
691 |
N/A |
INTRINSIC |
|
low complexity region
|
698 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
715 |
734 |
N/A |
INTRINSIC |
|
low complexity region
|
735 |
751 |
N/A |
INTRINSIC |
|
low complexity region
|
774 |
801 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211880
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211910
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212143
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212227
AA Change: V449A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212544
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212697
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213001
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213083
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defective biogenesis and degradation of autophagosomes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
G |
9: 99,495,971 (GRCm39) |
T136A |
probably benign |
Het |
| Calb1 |
T |
A |
4: 15,885,637 (GRCm39) |
D69E |
probably benign |
Het |
| Cecr2 |
A |
T |
6: 120,739,139 (GRCm39) |
N1261Y |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,829,593 (GRCm39) |
N1234S |
probably damaging |
Het |
| Cenpo |
G |
A |
12: 4,267,236 (GRCm39) |
|
probably benign |
Het |
| Cep131 |
A |
G |
11: 119,964,641 (GRCm39) |
W272R |
probably damaging |
Het |
| Cnr1 |
T |
A |
4: 33,944,659 (GRCm39) |
I349N |
probably damaging |
Het |
| Dcst1 |
A |
T |
3: 89,271,633 (GRCm39) |
I50K |
possibly damaging |
Het |
| Defa40 |
T |
A |
8: 21,739,904 (GRCm39) |
S43T |
probably damaging |
Het |
| Dhh |
C |
T |
15: 98,792,247 (GRCm39) |
V254M |
possibly damaging |
Het |
| Dhrs9 |
G |
T |
2: 69,228,067 (GRCm39) |
W227L |
possibly damaging |
Het |
| Heca |
G |
A |
10: 17,783,856 (GRCm39) |
R104* |
probably null |
Het |
| Irx4 |
G |
T |
13: 73,416,545 (GRCm39) |
A314S |
probably benign |
Het |
| Mapk1 |
A |
G |
16: 16,844,249 (GRCm39) |
D7G |
probably damaging |
Het |
| Mapre3 |
G |
T |
5: 31,019,886 (GRCm39) |
V56F |
probably damaging |
Het |
| Mepce |
G |
A |
5: 137,783,183 (GRCm39) |
T381I |
probably benign |
Het |
| Mga |
T |
A |
2: 119,754,140 (GRCm39) |
V804E |
probably damaging |
Het |
| Myh6 |
T |
C |
14: 55,179,458 (GRCm39) |
K157E |
probably benign |
Het |
| Or1e33 |
T |
A |
11: 73,738,702 (GRCm39) |
H83L |
probably benign |
Het |
| Palb2 |
A |
T |
7: 121,723,752 (GRCm39) |
S303T |
probably damaging |
Het |
| Phc2 |
C |
A |
4: 128,617,423 (GRCm39) |
P483Q |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,626,339 (GRCm39) |
S1604P |
possibly damaging |
Het |
| Ppp4r3a |
A |
G |
12: 101,016,035 (GRCm39) |
L39S |
probably damaging |
Het |
| Samsn1 |
G |
A |
16: 75,676,092 (GRCm39) |
A101V |
probably benign |
Het |
| Spata31h1 |
A |
T |
10: 82,122,906 (GRCm39) |
M3368K |
possibly damaging |
Het |
| Trbv3 |
T |
A |
6: 41,025,506 (GRCm39) |
I32K |
possibly damaging |
Het |
| Trpm3 |
A |
T |
19: 22,965,347 (GRCm39) |
N1614I |
probably benign |
Het |
| Ubr2 |
T |
C |
17: 47,262,910 (GRCm39) |
R1234G |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,245,032 (GRCm39) |
S1291P |
possibly damaging |
Het |
| Vmn1r81 |
A |
T |
7: 11,994,584 (GRCm39) |
L8* |
probably null |
Het |
| Vmn2r24 |
T |
A |
6: 123,763,981 (GRCm39) |
I286N |
probably benign |
Het |
|
| Other mutations in Map1s |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00905:Map1s
|
APN |
8 |
71,358,673 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01012:Map1s
|
APN |
8 |
71,366,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01729:Map1s
|
APN |
8 |
71,365,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03158:Map1s
|
APN |
8 |
71,367,378 (GRCm39) |
missense |
probably damaging |
0.97 |
|
E0374:Map1s
|
UTSW |
8 |
71,358,661 (GRCm39) |
unclassified |
probably benign |
|
|
R0026:Map1s
|
UTSW |
8 |
71,367,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0172:Map1s
|
UTSW |
8 |
71,367,612 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0571:Map1s
|
UTSW |
8 |
71,365,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0666:Map1s
|
UTSW |
8 |
71,366,696 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0904:Map1s
|
UTSW |
8 |
71,366,832 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1617:Map1s
|
UTSW |
8 |
71,366,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Map1s
|
UTSW |
8 |
71,369,055 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2134:Map1s
|
UTSW |
8 |
71,366,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2143:Map1s
|
UTSW |
8 |
71,363,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3413:Map1s
|
UTSW |
8 |
71,365,163 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3870:Map1s
|
UTSW |
8 |
71,369,745 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5555:Map1s
|
UTSW |
8 |
71,369,751 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5784:Map1s
|
UTSW |
8 |
71,367,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7379:Map1s
|
UTSW |
8 |
71,366,219 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7569:Map1s
|
UTSW |
8 |
71,366,142 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8415:Map1s
|
UTSW |
8 |
71,365,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8440:Map1s
|
UTSW |
8 |
71,365,163 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8784:Map1s
|
UTSW |
8 |
71,358,909 (GRCm39) |
missense |
unknown |
|
|
R8974:Map1s
|
UTSW |
8 |
71,366,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9161:Map1s
|
UTSW |
8 |
71,366,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9555:Map1s
|
UTSW |
8 |
71,367,236 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9566:Map1s
|
UTSW |
8 |
71,365,580 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9701:Map1s
|
UTSW |
8 |
71,369,712 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9730:Map1s
|
UTSW |
8 |
71,369,178 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Z1088:Map1s
|
UTSW |
8 |
71,369,093 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Z1177:Map1s
|
UTSW |
8 |
71,367,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCGAGAAGCTGGGCGTAG -3'
(R):5'- CGAGGCTTTGTGTTGACCAC -3'
Sequencing Primer
(F):5'- AGAGCTTTTTGTGCTGCACC -3'
(R):5'- CTGAGTGGGCCCAGATCTTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation