Incidental Mutation 'R0172:Map1s'
| ID |
24276 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map1s
|
| Ensembl Gene |
ENSMUSG00000019261 |
| Gene Name |
microtubule-associated protein 1S |
| Synonyms |
VCY2IP1, Mtap1s, Map8, 6430517J16Rik, Bpy2ip1 |
| MMRRC Submission |
038444-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0172 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
8 |
| Chromosomal Location |
71358618-71370173 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 71367612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 839
(M839K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019405]
[ENSMUST00000211910]
[ENSMUST00000212227]
[ENSMUST00000212511]
[ENSMUST00000213001]
|
| AlphaFold |
Q8C052 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019405
AA Change: M839K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000019405
Gene: ENSMUSG00000019261
AA Change: M839K
| 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 benign
Transcript: ENSMUST00000212227
AA Change: M839K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212544
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213083
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213001
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212697
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.4%
|
| Validation Efficiency |
82% (40/49) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
A |
5: 138,645,578 (GRCm39) |
C488S |
probably damaging |
Het |
| Abca12 |
T |
G |
1: 71,318,561 (GRCm39) |
D1814A |
probably damaging |
Het |
| Acp7 |
T |
C |
7: 28,314,549 (GRCm39) |
N272S |
possibly damaging |
Het |
| Ank3 |
T |
C |
10: 69,811,888 (GRCm39) |
V1145A |
probably damaging |
Het |
| Ap1m2 |
A |
T |
9: 21,209,628 (GRCm39) |
|
probably null |
Het |
| Atp12a |
T |
C |
14: 56,610,301 (GRCm39) |
V224A |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,155,411 (GRCm39) |
E2253G |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,829,193 (GRCm39) |
N237S |
probably benign |
Het |
| Crispld2 |
T |
C |
8: 120,752,810 (GRCm39) |
V286A |
possibly damaging |
Het |
| Cyp2c65 |
G |
T |
19: 39,076,100 (GRCm39) |
V351L |
possibly damaging |
Het |
| D130043K22Rik |
T |
C |
13: 25,056,389 (GRCm39) |
F574L |
probably benign |
Het |
| Dag1 |
G |
A |
9: 108,086,031 (GRCm39) |
T370M |
possibly damaging |
Het |
| Dmwd |
C |
T |
7: 18,814,267 (GRCm39) |
R306C |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 117,951,188 (GRCm39) |
Y3040C |
probably damaging |
Het |
| Dst |
C |
A |
1: 34,309,935 (GRCm39) |
H1536Q |
probably damaging |
Het |
| Eif3j1 |
A |
G |
2: 121,882,246 (GRCm39) |
I202V |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,070,574 (GRCm39) |
V2283D |
probably benign |
Het |
| Evi5 |
T |
C |
5: 107,938,328 (GRCm39) |
N625S |
probably benign |
Het |
| Exosc10 |
T |
C |
4: 148,649,814 (GRCm39) |
S415P |
probably benign |
Het |
| F830016B08Rik |
G |
T |
18: 60,433,036 (GRCm39) |
D40Y |
possibly damaging |
Het |
| Fam118a |
A |
G |
15: 84,929,951 (GRCm39) |
I60V |
probably benign |
Het |
| Fam186a |
A |
T |
15: 99,852,768 (GRCm39) |
M150K |
unknown |
Het |
| Fam193a |
C |
T |
5: 34,622,957 (GRCm39) |
R1182W |
probably damaging |
Het |
| Fastkd2 |
T |
A |
1: 63,771,187 (GRCm39) |
I181K |
possibly damaging |
Het |
| Hip1r |
T |
A |
5: 124,135,003 (GRCm39) |
Y380N |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,015,218 (GRCm39) |
P1795Q |
probably damaging |
Het |
| Hnrnpab |
T |
C |
11: 51,493,494 (GRCm39) |
E238G |
probably damaging |
Het |
| Kcnma1 |
C |
T |
14: 23,853,234 (GRCm39) |
A172T |
probably damaging |
Het |
| Lipg |
G |
T |
18: 75,081,245 (GRCm39) |
H279N |
possibly damaging |
Het |
| Lrrc9 |
A |
G |
12: 72,510,260 (GRCm39) |
D453G |
possibly damaging |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Myo1h |
T |
A |
5: 114,467,225 (GRCm39) |
|
probably null |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Nrn1 |
T |
C |
13: 36,914,544 (GRCm39) |
R19G |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,963,712 (GRCm39) |
Y1099H |
probably benign |
Het |
| Nxpe2 |
G |
A |
9: 48,231,209 (GRCm39) |
R387C |
possibly damaging |
Het |
| Or2a25 |
T |
C |
6: 42,888,913 (GRCm39) |
V152A |
probably benign |
Het |
| Pappa2 |
C |
T |
1: 158,682,419 (GRCm39) |
|
probably null |
Het |
| Pcdhb13 |
A |
T |
18: 37,575,990 (GRCm39) |
I123L |
probably benign |
Het |
| Plcg2 |
A |
G |
8: 118,306,521 (GRCm39) |
T292A |
probably benign |
Het |
| Pnpla8 |
T |
A |
12: 44,358,111 (GRCm39) |
V469D |
probably damaging |
Het |
| Pop4 |
T |
C |
7: 37,962,679 (GRCm39) |
Y195C |
probably damaging |
Het |
| Rbsn |
A |
T |
6: 92,188,588 (GRCm39) |
D42E |
probably damaging |
Het |
| Sclt1 |
A |
T |
3: 41,672,222 (GRCm39) |
I123N |
possibly damaging |
Het |
| Slc22a27 |
C |
A |
19: 7,843,201 (GRCm39) |
G393* |
probably null |
Het |
| Smu1 |
C |
T |
4: 40,738,439 (GRCm39) |
V432I |
probably benign |
Het |
| Sohlh1 |
A |
G |
2: 25,736,215 (GRCm39) |
|
probably null |
Het |
| Spta1 |
T |
A |
1: 174,058,352 (GRCm39) |
I1940K |
probably damaging |
Het |
| Sufu |
G |
T |
19: 46,385,563 (GRCm39) |
V8F |
possibly damaging |
Het |
| Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
| Tmem184b |
A |
G |
15: 79,262,740 (GRCm39) |
V39A |
possibly damaging |
Het |
| Tmem236 |
A |
G |
2: 14,223,694 (GRCm39) |
D161G |
probably benign |
Het |
| Ufl1 |
T |
C |
4: 25,280,685 (GRCm39) |
K54R |
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
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 |
|
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 |
|
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'- TTCTGATGATGACGCAGGCAGC -3'
(R):5'- TGGTGGACAGGACGGACTACAC -3'
Sequencing Primer
(F):5'- TGCCAGATGTACCAGGAATC -3'
(R):5'- TGTCAGCAATACCCAGCG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation