Incidental Mutation 'IGL03005:Chmp7'
| ID |
407529 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chmp7
|
| Ensembl Gene |
ENSMUSG00000034190 |
| Gene Name |
charged multivesicular body protein 7 |
| Synonyms |
4930596K11Rik, 6330407G04Rik, CHMP family, member 7 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03005
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
69954449-69969990 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 69957277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 294
(R294C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036381]
|
| AlphaFold |
Q8R1T1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036381
AA Change: R294C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047700
Gene: ENSMUSG00000034190
AA Change: R294C
| 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: ENSMUST00000224964
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225036
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt3 |
A |
T |
1: 176,894,793 (GRCm39) |
V268E |
probably damaging |
Het |
| Aoc1l1 |
T |
A |
6: 48,953,480 (GRCm39) |
Y468* |
probably null |
Het |
| Apob |
A |
G |
12: 8,043,059 (GRCm39) |
|
probably benign |
Het |
| Arhgap19 |
T |
C |
19: 41,772,856 (GRCm39) |
|
probably benign |
Het |
| C2cd2 |
A |
G |
16: 97,660,632 (GRCm39) |
L672P |
probably damaging |
Het |
| Cars1 |
A |
G |
7: 143,112,906 (GRCm39) |
F774L |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,773,973 (GRCm39) |
S128R |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,738,075 (GRCm39) |
N1569S |
probably damaging |
Het |
| Col10a1 |
A |
T |
10: 34,271,734 (GRCm39) |
I569F |
probably damaging |
Het |
| Cspg4 |
T |
A |
9: 56,795,772 (GRCm39) |
V1169D |
probably damaging |
Het |
| Emg1 |
G |
A |
6: 124,681,557 (GRCm39) |
T229I |
probably damaging |
Het |
| Fmo9 |
C |
T |
1: 166,502,088 (GRCm39) |
S179N |
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,912,371 (GRCm39) |
Y667C |
probably damaging |
Het |
| Gpsm2 |
A |
G |
3: 108,594,322 (GRCm39) |
|
probably benign |
Het |
| Gsdma |
A |
T |
11: 98,567,085 (GRCm39) |
E395V |
probably damaging |
Het |
| Gsdmd |
C |
T |
15: 75,739,015 (GRCm39) |
T464M |
possibly damaging |
Het |
| Iqschfp |
C |
A |
3: 68,526,010 (GRCm39) |
Q395K |
possibly damaging |
Het |
| Lipo3 |
T |
C |
19: 33,763,136 (GRCm39) |
I36V |
possibly damaging |
Het |
| Lrrtm1 |
A |
G |
6: 77,221,139 (GRCm39) |
S199G |
probably damaging |
Het |
| Lypla1 |
C |
T |
1: 4,902,613 (GRCm39) |
|
probably benign |
Het |
| Mst1r |
C |
T |
9: 107,791,748 (GRCm39) |
Q809* |
probably null |
Het |
| Mtr |
T |
A |
13: 12,250,335 (GRCm39) |
|
probably benign |
Het |
| Or4a39 |
G |
A |
2: 89,237,315 (GRCm39) |
T36I |
possibly damaging |
Het |
| Pax7 |
T |
A |
4: 139,556,007 (GRCm39) |
I156F |
probably damaging |
Het |
| Pcdhb8 |
T |
A |
18: 37,490,587 (GRCm39) |
L755Q |
probably damaging |
Het |
| Pdzd2 |
G |
A |
15: 12,385,351 (GRCm39) |
P1140S |
probably damaging |
Het |
| Pdzrn4 |
T |
C |
15: 92,668,272 (GRCm39) |
L808P |
probably damaging |
Het |
| Pex1 |
G |
T |
5: 3,680,292 (GRCm39) |
Q971H |
probably null |
Het |
| Pgap6 |
C |
T |
17: 26,337,911 (GRCm39) |
L432F |
probably benign |
Het |
| Pld1 |
T |
A |
3: 28,141,402 (GRCm39) |
V655E |
possibly damaging |
Het |
| Pnpla3 |
C |
T |
15: 84,058,469 (GRCm39) |
R163W |
probably damaging |
Het |
| Rabgef1 |
T |
C |
5: 130,237,638 (GRCm39) |
L237P |
probably damaging |
Het |
| Setbp1 |
A |
T |
18: 78,902,340 (GRCm39) |
N442K |
possibly damaging |
Het |
| Sorl1 |
T |
G |
9: 41,968,621 (GRCm39) |
D544A |
probably damaging |
Het |
| Spire2 |
C |
A |
8: 124,090,107 (GRCm39) |
P490T |
probably benign |
Het |
| Zeb1 |
T |
A |
18: 5,767,150 (GRCm39) |
S554T |
probably benign |
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 |
|
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 |
|
R4075:Chmp7
|
UTSW |
14 |
69,969,730 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation