Incidental Mutation 'R4605:Maip1'
ID |
345952 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Maip1
|
Ensembl Gene |
ENSMUSG00000025971 |
Gene Name |
matrix AAA peptidase interacting protein 1 |
Synonyms |
9430016H08Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R4605 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
57445487-57457112 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57450891 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 178
(I178V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027114
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027114]
[ENSMUST00000162686]
|
AlphaFold |
Q8BHE8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027114
AA Change: I178V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000027114 Gene: ENSMUSG00000025971 AA Change: I178V
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
low complexity region
|
66 |
78 |
N/A |
INTRINSIC |
low complexity region
|
82 |
93 |
N/A |
INTRINSIC |
low complexity region
|
98 |
109 |
N/A |
INTRINSIC |
Blast:Tim44
|
131 |
210 |
3e-11 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162686
|
SMART Domains |
Protein: ENSMUSP00000125427 Gene: ENSMUSG00000048495
Domain | Start | End | E-Value | Type |
JmjC
|
105 |
265 |
5.8e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185709
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankra2 |
A |
G |
13: 98,402,742 (GRCm39) |
|
probably benign |
Het |
Atp9b |
T |
A |
18: 80,796,364 (GRCm39) |
|
probably null |
Het |
Birc6 |
G |
A |
17: 74,946,929 (GRCm39) |
D2885N |
probably damaging |
Het |
Chaf1b |
A |
T |
16: 93,684,977 (GRCm39) |
N142I |
possibly damaging |
Het |
Ckap5 |
G |
A |
2: 91,406,559 (GRCm39) |
G787S |
probably damaging |
Het |
Ctc1 |
G |
T |
11: 68,920,552 (GRCm39) |
C372F |
possibly damaging |
Het |
Dip2b |
A |
G |
15: 100,107,517 (GRCm39) |
T1176A |
probably benign |
Het |
Epha10 |
A |
G |
4: 124,779,550 (GRCm39) |
E132G |
probably damaging |
Het |
Extl1 |
A |
G |
4: 134,087,145 (GRCm39) |
V471A |
probably benign |
Het |
Fgd6 |
T |
C |
10: 93,880,217 (GRCm39) |
L357P |
probably benign |
Het |
Gapvd1 |
A |
T |
2: 34,618,549 (GRCm39) |
C275S |
probably damaging |
Het |
Kcnj2 |
G |
A |
11: 110,963,676 (GRCm39) |
C356Y |
probably damaging |
Het |
Kcnk10 |
T |
C |
12: 98,456,219 (GRCm39) |
D204G |
probably damaging |
Het |
Krtap9-1 |
A |
C |
11: 99,764,579 (GRCm39) |
E105A |
unknown |
Het |
Loxhd1 |
G |
A |
18: 77,493,642 (GRCm39) |
V668I |
probably benign |
Het |
Ly86 |
T |
C |
13: 37,558,987 (GRCm39) |
I62T |
possibly damaging |
Het |
Mical3 |
G |
A |
6: 121,011,041 (GRCm39) |
Q386* |
probably null |
Het |
Or5an11 |
T |
C |
19: 12,246,532 (GRCm39) |
*313Q |
probably null |
Het |
Or5b107 |
T |
A |
19: 13,142,612 (GRCm39) |
V78D |
probably damaging |
Het |
Or5p52 |
A |
C |
7: 107,502,445 (GRCm39) |
I174L |
probably benign |
Het |
Or8j3b |
G |
A |
2: 86,205,141 (GRCm39) |
T205I |
probably benign |
Het |
Pcdha12 |
T |
C |
18: 37,154,576 (GRCm39) |
S432P |
probably damaging |
Het |
Prex1 |
A |
T |
2: 166,555,464 (GRCm39) |
Y59N |
probably benign |
Het |
Sbf1 |
A |
G |
15: 89,187,684 (GRCm39) |
F654L |
probably damaging |
Het |
Sh2d5 |
T |
A |
4: 137,984,566 (GRCm39) |
Y187* |
probably null |
Het |
Slc9a4 |
T |
C |
1: 40,640,195 (GRCm39) |
|
probably null |
Het |
Smyd2 |
A |
G |
1: 189,629,623 (GRCm39) |
S136P |
probably damaging |
Het |
Spata31e2 |
T |
C |
1: 26,722,267 (GRCm39) |
K971R |
probably benign |
Het |
Srsf11 |
A |
T |
3: 157,728,560 (GRCm39) |
L115* |
probably null |
Het |
Tbx19 |
C |
T |
1: 164,981,153 (GRCm39) |
V114I |
possibly damaging |
Het |
Unc5b |
A |
G |
10: 60,610,182 (GRCm39) |
V545A |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,642,998 (GRCm39) |
Y4120C |
probably damaging |
Het |
Vps13a |
T |
C |
19: 16,617,403 (GRCm39) |
T3002A |
probably damaging |
Het |
Zkscan2 |
A |
T |
7: 123,097,947 (GRCm39) |
W150R |
probably damaging |
Het |
|
Other mutations in Maip1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02732:Maip1
|
APN |
1 |
57,449,114 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03064:Maip1
|
APN |
1 |
57,446,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R0403:Maip1
|
UTSW |
1 |
57,446,355 (GRCm39) |
missense |
probably benign |
0.14 |
R0411:Maip1
|
UTSW |
1 |
57,454,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R0732:Maip1
|
UTSW |
1 |
57,450,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R1569:Maip1
|
UTSW |
1 |
57,452,554 (GRCm39) |
splice site |
probably benign |
|
R1620:Maip1
|
UTSW |
1 |
57,449,144 (GRCm39) |
critical splice donor site |
probably null |
|
R2830:Maip1
|
UTSW |
1 |
57,454,822 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4574:Maip1
|
UTSW |
1 |
57,452,404 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5082:Maip1
|
UTSW |
1 |
57,451,010 (GRCm39) |
critical splice donor site |
probably null |
|
R5178:Maip1
|
UTSW |
1 |
57,454,849 (GRCm39) |
missense |
probably benign |
0.06 |
R5262:Maip1
|
UTSW |
1 |
57,446,131 (GRCm39) |
missense |
probably damaging |
0.96 |
R5883:Maip1
|
UTSW |
1 |
57,446,260 (GRCm39) |
missense |
probably damaging |
0.99 |
R6837:Maip1
|
UTSW |
1 |
57,454,891 (GRCm39) |
makesense |
probably null |
|
R7445:Maip1
|
UTSW |
1 |
57,446,190 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7687:Maip1
|
UTSW |
1 |
57,451,003 (GRCm39) |
missense |
probably damaging |
0.98 |
R8408:Maip1
|
UTSW |
1 |
57,449,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R8956:Maip1
|
UTSW |
1 |
57,450,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R9093:Maip1
|
UTSW |
1 |
57,446,311 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGATTATATGCCCCAGTACAGG -3'
(R):5'- ACTCACAGCTTTGGTTTACTTGAAC -3'
Sequencing Primer
(F):5'- CCAGTACAGGGGAATGCC -3'
(R):5'- ACAATTATTTGTCATGTAAAGTTGCC -3'
|
Posted On |
2015-09-25 |