Incidental Mutation 'R5784:Map1s'
ID |
447919 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map1s
|
Ensembl Gene |
ENSMUSG00000019261 |
Gene Name |
microtubule-associated protein 1S |
Synonyms |
VCY2IP1, Mtap1s, Map8, 6430517J16Rik, Bpy2ip1 |
MMRRC Submission |
043381-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5784 (G1)
|
Quality Score |
208 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
71358618-71370173 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 71367002 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 636
(S636P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148554
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019405]
[ENSMUST00000211910]
[ENSMUST00000212227]
[ENSMUST00000212511]
[ENSMUST00000213001]
|
AlphaFold |
Q8C052 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000019405
AA Change: S636P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000019405 Gene: ENSMUSG00000019261 AA Change: S636P
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: S636P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; 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
|
Meta Mutation Damage Score |
0.0810 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
98% (51/52) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
T |
C |
10: 78,903,441 (GRCm39) |
R292G |
possibly damaging |
Het |
4932416K20Rik |
T |
A |
8: 105,524,261 (GRCm39) |
|
noncoding transcript |
Het |
Aox3 |
A |
G |
1: 58,192,658 (GRCm39) |
D544G |
probably benign |
Het |
Atg2a |
C |
A |
19: 6,311,535 (GRCm39) |
A1830D |
probably damaging |
Het |
Casp1 |
T |
C |
9: 5,299,337 (GRCm39) |
I22T |
probably damaging |
Het |
Ccdc141 |
A |
C |
2: 76,859,671 (GRCm39) |
L990W |
probably damaging |
Het |
Cnbd2 |
A |
G |
2: 156,180,577 (GRCm39) |
T125A |
probably damaging |
Het |
Cnep1r1 |
T |
A |
8: 88,857,354 (GRCm39) |
|
probably benign |
Het |
Dhx38 |
G |
T |
8: 110,286,245 (GRCm39) |
Y348* |
probably null |
Het |
Dnah7c |
A |
T |
1: 46,563,228 (GRCm39) |
I593L |
possibly damaging |
Het |
Dpep3 |
T |
C |
8: 106,705,375 (GRCm39) |
D125G |
probably benign |
Het |
Eif1ad10 |
T |
A |
12: 88,216,525 (GRCm39) |
N116Y |
probably damaging |
Het |
Epb41l4b |
A |
C |
4: 57,086,003 (GRCm39) |
S191A |
probably damaging |
Het |
Etl4 |
A |
G |
2: 20,811,016 (GRCm39) |
Y1033C |
possibly damaging |
Het |
Fam193a |
T |
C |
5: 34,623,567 (GRCm39) |
L32P |
probably damaging |
Het |
Grin2c |
T |
C |
11: 115,149,121 (GRCm39) |
E159G |
possibly damaging |
Het |
Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
Hdhd2 |
A |
T |
18: 77,054,841 (GRCm39) |
D205V |
probably damaging |
Het |
Helz |
T |
A |
11: 107,561,307 (GRCm39) |
N774K |
unknown |
Het |
Idh3b |
A |
G |
2: 130,121,591 (GRCm39) |
V71A |
probably damaging |
Het |
Lars1 |
T |
C |
18: 42,352,964 (GRCm39) |
M818V |
probably benign |
Het |
Ltbp2 |
A |
G |
12: 84,915,513 (GRCm39) |
V162A |
probably damaging |
Het |
Ltk |
G |
A |
2: 119,584,840 (GRCm39) |
Q136* |
probably null |
Het |
Mafb |
A |
T |
2: 160,208,461 (GRCm39) |
C46S |
probably damaging |
Het |
Map3k13 |
A |
G |
16: 21,717,391 (GRCm39) |
K209E |
possibly damaging |
Het |
Mppe1 |
T |
C |
18: 67,361,098 (GRCm39) |
N220D |
probably benign |
Het |
Mydgf |
T |
C |
17: 56,485,254 (GRCm39) |
|
probably benign |
Het |
Myh6 |
T |
C |
14: 55,190,521 (GRCm39) |
K999E |
possibly damaging |
Het |
Nemp1 |
T |
A |
10: 127,513,067 (GRCm39) |
V34D |
possibly damaging |
Het |
Npr2 |
A |
G |
4: 43,632,801 (GRCm39) |
E206G |
probably benign |
Het |
Or10x4 |
G |
A |
1: 174,218,965 (GRCm39) |
C110Y |
probably damaging |
Het |
Or13g1 |
T |
C |
7: 85,955,743 (GRCm39) |
N193D |
probably damaging |
Het |
Or9q2 |
A |
T |
19: 13,772,710 (GRCm39) |
H88Q |
probably benign |
Het |
Papln |
A |
G |
12: 83,828,754 (GRCm39) |
N820S |
probably benign |
Het |
Pcdh10 |
T |
G |
3: 45,335,075 (GRCm39) |
F463C |
probably damaging |
Het |
Pde7a |
A |
G |
3: 19,319,009 (GRCm39) |
V12A |
probably benign |
Het |
Radil |
G |
T |
5: 142,473,268 (GRCm39) |
H804Q |
possibly damaging |
Het |
Rbfox1 |
A |
T |
16: 7,042,203 (GRCm39) |
D39V |
probably damaging |
Het |
Rims2 |
T |
G |
15: 39,399,383 (GRCm39) |
|
probably null |
Het |
Rnf121 |
A |
G |
7: 101,684,583 (GRCm39) |
F110S |
probably benign |
Het |
Saxo2 |
C |
T |
7: 82,284,082 (GRCm39) |
V259I |
probably benign |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Slc2a3 |
A |
T |
6: 122,712,376 (GRCm39) |
|
probably null |
Het |
Traf2 |
A |
T |
2: 25,429,049 (GRCm39) |
V6E |
probably benign |
Het |
Trim43c |
A |
T |
9: 88,729,696 (GRCm39) |
N379I |
probably benign |
Het |
Ubr4 |
C |
G |
4: 139,152,529 (GRCm39) |
C1973W |
probably damaging |
Het |
Unc13a |
G |
T |
8: 72,108,310 (GRCm39) |
D514E |
possibly damaging |
Het |
Wdr27 |
T |
A |
17: 15,146,495 (GRCm39) |
T167S |
probably damaging |
Het |
Zfp174 |
A |
T |
16: 3,672,438 (GRCm39) |
E329V |
probably benign |
Het |
Zfp422 |
A |
T |
6: 116,603,771 (GRCm39) |
I76N |
probably damaging |
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 |
R6630:Map1s
|
UTSW |
8 |
71,366,442 (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'- CCTACAGCACCTGGTAATAGCC -3'
(R):5'- ATAGTGTGGGCAGTGACTCG -3'
Sequencing Primer
(F):5'- AGCACCTGGTAATAGCCCTGAG -3'
(R):5'- TGACTCGCTCACAGACGTG -3'
|
Posted On |
2016-12-15 |