Incidental Mutation 'R5555:Map1s'
| ID |
435339 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map1s
|
| Ensembl Gene |
ENSMUSG00000019261 |
| Gene Name |
microtubule-associated protein 1S |
| Synonyms |
VCY2IP1, Mtap1s, Map8, 6430517J16Rik, Bpy2ip1 |
| MMRRC Submission |
043112-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5555 (G1)
|
| Quality Score |
203 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
71358618-71370173 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 71369751 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 941
(T941M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019405]
[ENSMUST00000212227]
[ENSMUST00000213001]
|
| AlphaFold |
Q8C052 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019405
AA Change: T941M
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000019405
Gene: ENSMUSG00000019261
AA Change: T941M
| 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: ENSMUST00000212143
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212227
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213001
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213083
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg7 |
T |
C |
6: 114,679,014 (GRCm39) |
V366A |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,581,702 (GRCm39) |
V192E |
probably damaging |
Het |
| Chil6 |
C |
T |
3: 106,297,268 (GRCm39) |
S291N |
possibly damaging |
Het |
| D7Ertd443e |
T |
C |
7: 133,951,320 (GRCm39) |
T118A |
probably benign |
Het |
| Dennd4b |
G |
A |
3: 90,175,675 (GRCm39) |
R148Q |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,012,776 (GRCm39) |
T1837S |
probably damaging |
Het |
| Elapor2 |
T |
A |
5: 9,472,296 (GRCm39) |
|
probably null |
Het |
| Ext1 |
A |
G |
15: 52,951,539 (GRCm39) |
V515A |
probably damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,890,109 (GRCm39) |
E272G |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,825,236 (GRCm39) |
H1475Q |
probably benign |
Het |
| Grid1 |
T |
C |
14: 35,242,662 (GRCm39) |
S672P |
possibly damaging |
Het |
| Gtpbp4 |
A |
G |
13: 9,029,463 (GRCm39) |
|
probably null |
Het |
| Hsp90aa1 |
A |
T |
12: 110,659,168 (GRCm39) |
V543E |
probably damaging |
Het |
| Irf5 |
T |
C |
6: 29,531,145 (GRCm39) |
S4P |
probably benign |
Het |
| Kif2b |
G |
T |
11: 91,466,286 (GRCm39) |
Q666K |
probably benign |
Het |
| Macc1 |
A |
T |
12: 119,414,110 (GRCm39) |
H762L |
probably benign |
Het |
| Mrgprb1 |
T |
A |
7: 48,097,523 (GRCm39) |
I130F |
probably benign |
Het |
| Nbeal1 |
T |
G |
1: 60,276,311 (GRCm39) |
V684G |
possibly damaging |
Het |
| Ngly1 |
C |
T |
14: 16,270,508 (GRCm38) |
Q173* |
probably null |
Het |
| Plcb3 |
A |
T |
19: 6,943,587 (GRCm39) |
M104K |
probably benign |
Het |
| Plcg2 |
T |
A |
8: 118,339,734 (GRCm39) |
Y1048* |
probably null |
Het |
| Ptprf |
T |
C |
4: 118,082,121 (GRCm39) |
Y1039C |
probably damaging |
Het |
| Rab38 |
A |
G |
7: 88,079,695 (GRCm39) |
Y29C |
probably damaging |
Het |
| Rcan2 |
T |
A |
17: 44,347,921 (GRCm39) |
V210E |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,304,008 (GRCm39) |
Q447L |
probably benign |
Het |
| Scel |
G |
A |
14: 103,839,642 (GRCm39) |
R495K |
probably benign |
Het |
| Scn11a |
G |
T |
9: 119,584,304 (GRCm39) |
P1437Q |
probably damaging |
Het |
| Sim2 |
A |
G |
16: 93,910,315 (GRCm39) |
D239G |
probably damaging |
Het |
| Skap2 |
A |
G |
6: 51,836,998 (GRCm39) |
Y356H |
probably damaging |
Het |
| Skint11 |
A |
G |
4: 114,051,798 (GRCm39) |
T49A |
probably benign |
Het |
| Snx33 |
G |
A |
9: 56,832,681 (GRCm39) |
H463Y |
probably benign |
Het |
| Steap2 |
T |
C |
5: 5,727,544 (GRCm39) |
T264A |
possibly damaging |
Het |
| Stk40 |
T |
A |
4: 126,028,852 (GRCm39) |
V238E |
probably damaging |
Het |
| Sun2 |
T |
C |
15: 79,618,328 (GRCm39) |
D277G |
probably benign |
Het |
| Ttll9 |
T |
C |
2: 152,832,020 (GRCm39) |
|
probably null |
Het |
| Vmn1r54 |
G |
A |
6: 90,246,347 (GRCm39) |
C87Y |
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 |
|
R5784:Map1s
|
UTSW |
8 |
71,367,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGGATGGCGCAACCTTAGTG -3'
(R):5'- TTAAGCACGGGATCTAGCTTTGC -3'
Sequencing Primer
(F):5'- GCAACCTTAGTGGCTGGTG -3'
(R):5'- GATCTAGCTTTGCACATGGAGCC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation