Incidental Mutation 'R4075:Chmp7'
ID |
316533 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chmp7
|
Ensembl Gene |
ENSMUSG00000034190 |
Gene Name |
charged multivesicular body protein 7 |
Synonyms |
4930596K11Rik, 6330407G04Rik, CHMP family, member 7 |
MMRRC Submission |
040974-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4075 (G1)
|
Quality Score |
154 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
69954449-69969990 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 69969730 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 70
(V70E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047700
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036381]
|
AlphaFold |
Q8R1T1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036381
AA Change: V70E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000047700 Gene: ENSMUSG00000034190 AA Change: V70E
Domain | Start | End | E-Value | Type |
low complexity region
|
143 |
163 |
N/A |
INTRINSIC |
Pfam:Snf7
|
241 |
417 |
1.3e-24 |
PFAM |
low complexity region
|
420 |
436 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180465
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181430
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224601
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225036
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm4 |
T |
A |
7: 119,297,981 (GRCm39) |
L206H |
probably benign |
Het |
Adam34l |
A |
T |
8: 44,079,387 (GRCm39) |
F279Y |
probably damaging |
Het |
Adgrf5 |
T |
G |
17: 43,761,086 (GRCm39) |
V927G |
probably damaging |
Het |
Agtr1a |
A |
G |
13: 30,565,817 (GRCm39) |
N294S |
probably damaging |
Het |
Aspm |
T |
C |
1: 139,402,023 (GRCm39) |
L1229S |
probably damaging |
Het |
Cnot10 |
A |
G |
9: 114,452,015 (GRCm39) |
F254L |
possibly damaging |
Het |
Cubn |
A |
G |
2: 13,318,810 (GRCm39) |
V2963A |
possibly damaging |
Het |
Depp1 |
A |
G |
6: 116,629,029 (GRCm39) |
N124S |
possibly damaging |
Het |
Dnah5 |
T |
A |
15: 28,293,937 (GRCm39) |
D1347E |
probably benign |
Het |
Dsg1a |
T |
G |
18: 20,473,127 (GRCm39) |
N733K |
possibly damaging |
Het |
Dst |
A |
G |
1: 34,231,350 (GRCm39) |
E2656G |
probably benign |
Het |
Egf |
C |
T |
3: 129,529,618 (GRCm39) |
R264Q |
probably benign |
Het |
Eqtn |
A |
G |
4: 94,808,199 (GRCm39) |
I201T |
possibly damaging |
Het |
Ercc4 |
G |
A |
16: 12,948,549 (GRCm39) |
V499I |
probably damaging |
Het |
Fsip2 |
C |
T |
2: 82,813,245 (GRCm39) |
S3188L |
probably benign |
Het |
Herc1 |
A |
G |
9: 66,325,774 (GRCm39) |
D1416G |
probably benign |
Het |
Hormad1 |
T |
C |
3: 95,485,514 (GRCm39) |
M234T |
possibly damaging |
Het |
Ifi44 |
A |
T |
3: 151,451,613 (GRCm39) |
N164K |
probably benign |
Het |
Ikzf3 |
G |
T |
11: 98,358,469 (GRCm39) |
Y289* |
probably null |
Het |
Il17rc |
A |
G |
6: 113,458,158 (GRCm39) |
D327G |
possibly damaging |
Het |
Lamp3 |
A |
G |
16: 19,519,466 (GRCm39) |
L239P |
possibly damaging |
Het |
Lce1l |
C |
T |
3: 92,757,540 (GRCm39) |
S106N |
unknown |
Het |
Lrig3 |
C |
T |
10: 125,849,277 (GRCm39) |
T999I |
probably benign |
Het |
Map4k4 |
T |
C |
1: 40,062,622 (GRCm39) |
Y1196H |
probably damaging |
Het |
Mtr |
C |
A |
13: 12,230,298 (GRCm39) |
|
probably null |
Het |
Nlrp4c |
A |
G |
7: 6,075,709 (GRCm39) |
K667E |
probably benign |
Het |
Nxt1 |
A |
G |
2: 148,517,652 (GRCm39) |
D131G |
probably damaging |
Het |
Obox3 |
G |
T |
7: 15,359,724 (GRCm39) |
T315N |
possibly damaging |
Het |
Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
Or5bw2 |
T |
C |
7: 6,573,142 (GRCm39) |
S51P |
probably benign |
Het |
Pcdh7 |
A |
G |
5: 57,879,150 (GRCm39) |
R902G |
probably damaging |
Het |
Pidd1 |
A |
G |
7: 141,020,739 (GRCm39) |
F453L |
probably damaging |
Het |
Ptpn1 |
T |
A |
2: 167,818,433 (GRCm39) |
|
probably null |
Het |
Rev1 |
T |
G |
1: 38,093,319 (GRCm39) |
K1075T |
possibly damaging |
Het |
Slc28a2b |
T |
G |
2: 122,344,892 (GRCm39) |
V166G |
probably benign |
Het |
Slco1a5 |
A |
T |
6: 142,213,950 (GRCm39) |
I57K |
possibly damaging |
Het |
Ssrp1 |
A |
C |
2: 84,875,912 (GRCm39) |
K590N |
possibly damaging |
Het |
Svs5 |
T |
C |
2: 164,079,238 (GRCm39) |
E223G |
probably benign |
Het |
Tab3 |
G |
T |
X: 84,658,063 (GRCm39) |
V197F |
probably damaging |
Het |
Tm2d3 |
T |
A |
7: 65,347,498 (GRCm39) |
L49* |
probably null |
Het |
Usp31 |
A |
G |
7: 121,267,005 (GRCm39) |
|
probably null |
Het |
Vmn2r24 |
A |
T |
6: 123,764,374 (GRCm39) |
H417L |
possibly damaging |
Het |
Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
Zbtb11 |
C |
T |
16: 55,818,427 (GRCm39) |
T617I |
possibly damaging |
Het |
Zfp677 |
T |
C |
17: 21,618,421 (GRCm39) |
Y493H |
probably damaging |
Het |
|
Other mutations in Chmp7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01115:Chmp7
|
APN |
14 |
69,958,772 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01304:Chmp7
|
APN |
14 |
69,956,062 (GRCm39) |
missense |
probably benign |
0.08 |
IGL01339:Chmp7
|
APN |
14 |
69,956,855 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01818:Chmp7
|
APN |
14 |
69,956,616 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03005:Chmp7
|
APN |
14 |
69,957,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R0238:Chmp7
|
UTSW |
14 |
69,958,446 (GRCm39) |
missense |
probably damaging |
0.98 |
R0238:Chmp7
|
UTSW |
14 |
69,958,446 (GRCm39) |
missense |
probably damaging |
0.98 |
R0239:Chmp7
|
UTSW |
14 |
69,958,446 (GRCm39) |
missense |
probably damaging |
0.98 |
R0239:Chmp7
|
UTSW |
14 |
69,958,446 (GRCm39) |
missense |
probably damaging |
0.98 |
R0395:Chmp7
|
UTSW |
14 |
69,969,905 (GRCm39) |
missense |
probably benign |
|
R0580:Chmp7
|
UTSW |
14 |
69,956,899 (GRCm39) |
missense |
probably benign |
0.38 |
R0815:Chmp7
|
UTSW |
14 |
69,956,899 (GRCm39) |
missense |
probably benign |
0.38 |
R1136:Chmp7
|
UTSW |
14 |
69,956,899 (GRCm39) |
missense |
probably benign |
0.38 |
R1137:Chmp7
|
UTSW |
14 |
69,956,899 (GRCm39) |
missense |
probably benign |
0.38 |
R1168:Chmp7
|
UTSW |
14 |
69,956,899 (GRCm39) |
missense |
probably benign |
0.38 |
R1206:Chmp7
|
UTSW |
14 |
69,956,899 (GRCm39) |
missense |
probably benign |
0.38 |
R1260:Chmp7
|
UTSW |
14 |
69,956,899 (GRCm39) |
missense |
probably benign |
0.38 |
R1261:Chmp7
|
UTSW |
14 |
69,956,899 (GRCm39) |
missense |
probably benign |
0.38 |
R1262:Chmp7
|
UTSW |
14 |
69,956,899 (GRCm39) |
missense |
probably benign |
0.38 |
R1460:Chmp7
|
UTSW |
14 |
69,956,899 (GRCm39) |
missense |
probably benign |
0.38 |
R1530:Chmp7
|
UTSW |
14 |
69,969,937 (GRCm39) |
start codon destroyed |
probably null |
0.68 |
R1579:Chmp7
|
UTSW |
14 |
69,956,899 (GRCm39) |
missense |
probably benign |
0.38 |
R1581:Chmp7
|
UTSW |
14 |
69,956,899 (GRCm39) |
missense |
probably benign |
0.38 |
R1843:Chmp7
|
UTSW |
14 |
69,957,248 (GRCm39) |
missense |
probably benign |
0.00 |
R1851:Chmp7
|
UTSW |
14 |
69,956,899 (GRCm39) |
missense |
probably benign |
0.38 |
R2254:Chmp7
|
UTSW |
14 |
69,958,405 (GRCm39) |
missense |
probably damaging |
0.96 |
R4298:Chmp7
|
UTSW |
14 |
69,956,650 (GRCm39) |
splice site |
probably null |
|
R4595:Chmp7
|
UTSW |
14 |
69,958,678 (GRCm39) |
missense |
probably damaging |
0.96 |
R4665:Chmp7
|
UTSW |
14 |
69,958,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R4706:Chmp7
|
UTSW |
14 |
69,956,010 (GRCm39) |
missense |
probably benign |
0.45 |
R4732:Chmp7
|
UTSW |
14 |
69,969,745 (GRCm39) |
missense |
probably damaging |
0.98 |
R4733:Chmp7
|
UTSW |
14 |
69,969,745 (GRCm39) |
missense |
probably damaging |
0.98 |
R5207:Chmp7
|
UTSW |
14 |
69,969,755 (GRCm39) |
missense |
probably benign |
0.02 |
R5358:Chmp7
|
UTSW |
14 |
69,958,684 (GRCm39) |
missense |
probably benign |
0.15 |
R8977:Chmp7
|
UTSW |
14 |
69,958,684 (GRCm39) |
missense |
probably benign |
0.15 |
R9098:Chmp7
|
UTSW |
14 |
69,956,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAGTCCAGACATCCATCCG -3'
(R):5'- CGGGACTTTTATCGCACAGG -3'
Sequencing Primer
(F):5'- TGAACAAACCCTGGACGCG -3'
(R):5'- TTCCGATGTGGTCCCCG -3'
|
Posted On |
2015-05-15 |