Incidental Mutation 'R8440:Map1s'
| ID |
660390 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map1s
|
| Ensembl Gene |
ENSMUSG00000019261 |
| Gene Name |
microtubule-associated protein 1S |
| Synonyms |
VCY2IP1, Mtap1s, Map8, 6430517J16Rik, Bpy2ip1 |
| MMRRC Submission |
067884-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8440 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
71358618-71370173 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71365163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 107
(N107D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019405]
[ENSMUST00000211910]
[ENSMUST00000212227]
[ENSMUST00000212511]
[ENSMUST00000213001]
|
| AlphaFold |
Q8C052 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019405
AA Change: N107D
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000019405
Gene: ENSMUSG00000019261
AA Change: N107D
| 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 |
possibly damaging
Transcript: ENSMUST00000212227
AA Change: N107D
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212544
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213001
AA Change: N165D
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212823
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212697
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213083
|
| Meta Mutation Damage Score |
0.0694 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (38/39) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak5 |
G |
C |
3: 152,209,680 (GRCm39) |
|
probably null |
Het |
| Bbs9 |
T |
A |
9: 22,479,046 (GRCm39) |
V163E |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Cbr3 |
T |
C |
16: 93,480,421 (GRCm39) |
I70T |
probably damaging |
Het |
| Chka |
T |
C |
19: 3,943,375 (GRCm39) |
Y426H |
probably damaging |
Het |
| Cpq |
T |
A |
15: 33,213,341 (GRCm39) |
M120K |
possibly damaging |
Het |
| Dcaf1 |
T |
A |
9: 106,725,073 (GRCm39) |
C520S |
possibly damaging |
Het |
| Egfr |
T |
C |
11: 16,859,831 (GRCm39) |
Y1018H |
probably damaging |
Het |
| Eif3l |
T |
C |
15: 78,961,120 (GRCm39) |
Y58H |
possibly damaging |
Het |
| Frmd8 |
T |
C |
19: 5,915,202 (GRCm39) |
Y234C |
possibly damaging |
Het |
| Fus |
T |
C |
7: 127,568,998 (GRCm39) |
Y50H |
unknown |
Het |
| Hmcn1 |
T |
A |
1: 150,570,671 (GRCm39) |
Q2164L |
probably damaging |
Het |
| Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
| Hsd11b1 |
T |
C |
1: 192,904,420 (GRCm39) |
K260E |
probably benign |
Het |
| Igkv4-91 |
C |
T |
6: 68,745,556 (GRCm39) |
G114D |
probably benign |
Het |
| Inpp4b |
G |
A |
8: 82,768,524 (GRCm39) |
E678K |
probably damaging |
Het |
| Kifc3 |
G |
T |
8: 95,836,422 (GRCm39) |
P113Q |
possibly damaging |
Het |
| Lgi4 |
T |
A |
7: 30,760,049 (GRCm39) |
|
probably null |
Het |
| Meiob |
G |
T |
17: 25,037,302 (GRCm39) |
C60F |
probably benign |
Het |
| Nedd4l |
G |
T |
18: 65,022,126 (GRCm39) |
|
probably null |
Het |
| Omp |
A |
G |
7: 97,794,253 (GRCm39) |
F125L |
probably damaging |
Het |
| Or1ad6 |
T |
C |
11: 50,860,024 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or51h1 |
G |
A |
7: 102,308,275 (GRCm39) |
M82I |
probably damaging |
Het |
| Or5a1 |
C |
T |
19: 12,097,308 (GRCm39) |
C244Y |
probably damaging |
Het |
| Pcdha3 |
T |
C |
18: 37,080,914 (GRCm39) |
V552A |
probably damaging |
Het |
| Plek |
T |
C |
11: 16,945,276 (GRCm39) |
D18G |
possibly damaging |
Het |
| Ppip5k2 |
T |
C |
1: 97,675,276 (GRCm39) |
T376A |
probably damaging |
Het |
| Prkdc |
CAAA |
CAAAA |
16: 15,653,022 (GRCm39) |
3833 |
probably null |
Het |
| Rabgap1 |
T |
C |
2: 37,432,692 (GRCm39) |
|
probably null |
Het |
| Rtn1 |
T |
A |
12: 72,270,173 (GRCm39) |
I113F |
probably damaging |
Het |
| Ssu2 |
T |
A |
6: 112,364,950 (GRCm39) |
D4V |
probably benign |
Het |
| St6galnac2 |
T |
C |
11: 116,568,374 (GRCm39) |
H363R |
probably damaging |
Het |
| Stk19 |
T |
C |
17: 35,055,456 (GRCm39) |
S60G |
possibly damaging |
Het |
| Suco |
G |
A |
1: 161,679,907 (GRCm39) |
T332I |
probably damaging |
Het |
| Trbv20 |
T |
A |
6: 41,165,892 (GRCm39) |
Y106N |
probably damaging |
Het |
| Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
| Vmn1r128 |
G |
A |
7: 21,083,745 (GRCm39) |
V150I |
probably benign |
Het |
| Vmn2r54 |
A |
T |
7: 12,350,013 (GRCm39) |
V523E |
possibly damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,916,080 (GRCm39) |
E231V |
probably benign |
Het |
| Xkr9 |
A |
G |
1: 13,771,603 (GRCm39) |
D373G |
probably benign |
Het |
| Zfp592 |
G |
C |
7: 80,691,271 (GRCm39) |
S1150T |
possibly 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 |
|
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 |
|
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'- TAGGTGGGTCTTCACAGGAG -3'
(R):5'- TTCTCTCACCCTAGAGCACAG -3'
Sequencing Primer
(F):5'- CTTCACAGGAGTCTCACGGTGAAG -3'
(R):5'- CACAGGCTTGGGAAAGGGC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation