Incidental Mutation 'R9555:Map1s'
| ID |
720712 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map1s
|
| Ensembl Gene |
ENSMUSG00000019261 |
| Gene Name |
microtubule-associated protein 1S |
| Synonyms |
VCY2IP1, Mtap1s, Map8, 6430517J16Rik, Bpy2ip1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9555 (G1)
|
| Quality Score |
182.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
71358618-71370173 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 71367236 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 714
(S714T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019405]
[ENSMUST00000211910]
[ENSMUST00000212227]
[ENSMUST00000212511]
[ENSMUST00000213001]
|
| AlphaFold |
Q8C052 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019405
AA Change: S714T
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000019405
Gene: ENSMUSG00000019261
AA Change: S714T
| 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 |
probably benign
Transcript: ENSMUST00000211910
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212227
AA Change: S714T
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212511
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213001
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930453N24Rik |
A |
G |
16: 64,586,947 (GRCm39) |
V259A |
probably benign |
Het |
| Abcd4 |
T |
C |
12: 84,661,949 (GRCm39) |
I63V |
probably benign |
Het |
| Agps |
C |
A |
2: 75,683,091 (GRCm39) |
P139T |
probably damaging |
Het |
| B130006D01Rik |
A |
T |
11: 95,616,956 (GRCm39) |
H27L |
unknown |
Het |
| BC024139 |
A |
G |
15: 76,005,359 (GRCm39) |
V501A |
possibly damaging |
Het |
| Cacul1 |
A |
T |
19: 60,533,887 (GRCm39) |
Y238* |
probably null |
Het |
| Cep55 |
T |
C |
19: 38,059,592 (GRCm39) |
|
probably null |
Het |
| Csf1r |
T |
A |
18: 61,243,473 (GRCm39) |
I163N |
possibly damaging |
Het |
| Ddx3y |
G |
T |
Y: 1,265,895 (GRCm39) |
D367E |
probably benign |
Het |
| Ecpas |
T |
A |
4: 58,879,083 (GRCm39) |
I69L |
possibly damaging |
Het |
| Epb41l4a |
A |
G |
18: 34,009,966 (GRCm39) |
V213A |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Klrb1a |
T |
C |
6: 128,595,427 (GRCm39) |
E142G |
probably damaging |
Het |
| Lamb3 |
A |
T |
1: 193,011,113 (GRCm39) |
I369F |
possibly damaging |
Het |
| Lig1 |
T |
C |
7: 13,025,400 (GRCm39) |
V254A |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,741,693 (GRCm39) |
D3192V |
|
Het |
| Lrp1b |
T |
C |
2: 40,748,438 (GRCm39) |
D3134G |
|
Het |
| Marchf2 |
A |
G |
17: 33,922,129 (GRCm39) |
L77P |
probably damaging |
Het |
| Nek8 |
A |
G |
11: 78,067,390 (GRCm39) |
F15L |
probably benign |
Het |
| Or1s2 |
T |
A |
19: 13,758,360 (GRCm39) |
I126N |
probably damaging |
Het |
| Pdzrn4 |
C |
T |
15: 92,297,703 (GRCm39) |
R223C |
probably damaging |
Het |
| Per1 |
T |
A |
11: 68,995,574 (GRCm39) |
V718D |
probably benign |
Het |
| Pik3ca |
A |
G |
3: 32,505,916 (GRCm39) |
H676R |
probably damaging |
Het |
| Pla2g4e |
C |
A |
2: 120,075,400 (GRCm39) |
|
probably benign |
Het |
| Proser1 |
A |
T |
3: 53,378,876 (GRCm39) |
I103F |
possibly damaging |
Het |
| Pyroxd1 |
G |
A |
6: 142,300,421 (GRCm39) |
A184T |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,718,415 (GRCm39) |
Q632* |
probably null |
Het |
| Serpinb12 |
C |
T |
1: 106,884,345 (GRCm39) |
H364Y |
probably damaging |
Het |
| Sfxn3 |
G |
A |
19: 45,038,211 (GRCm39) |
E64K |
probably benign |
Het |
| Slc38a1 |
C |
T |
15: 96,486,860 (GRCm39) |
V199M |
possibly damaging |
Het |
| Tep1 |
A |
G |
14: 51,105,888 (GRCm39) |
I44T |
possibly damaging |
Het |
| Trip13 |
T |
A |
13: 74,084,252 (GRCm39) |
T78S |
probably benign |
Het |
| Trmt11 |
T |
C |
10: 30,470,150 (GRCm39) |
D58G |
possibly damaging |
Het |
| Usp28 |
A |
T |
9: 48,952,736 (GRCm39) |
I1015F |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,839,659 (GRCm39) |
T1962A |
|
Het |
| Vmn2r100 |
T |
A |
17: 19,743,857 (GRCm39) |
S507T |
probably benign |
Het |
| Vmn2r91 |
C |
T |
17: 18,325,792 (GRCm39) |
P137S |
possibly damaging |
Het |
| Zfp84 |
G |
T |
7: 29,476,102 (GRCm39) |
V265F |
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 |
|
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 |
|
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'- CACGTCTCCTCATGATGTGG -3'
(R):5'- AGCTACAGTTGCAGCTCTG -3'
Sequencing Primer
(F):5'- CATGATGTGGACCTGTGCCTC -3'
(R):5'- AGAGCTAGGCCTTGCAGG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation