Incidental Mutation 'R1137:Chmp7'
| ID |
95216 |
| 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 |
039210-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1137 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
69954449-69969990 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 69956899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 336
(M336I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036381]
|
| AlphaFold |
Q8R1T1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036381
AA Change: M336I
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000047700
Gene: ENSMUSG00000034190
AA Change: M336I
| 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
|
| Meta Mutation Damage Score |
0.1136 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410002F23Rik |
T |
A |
7: 43,900,256 (GRCm39) |
S54T |
probably benign |
Het |
| Ahdc1 |
A |
G |
4: 132,789,424 (GRCm39) |
T222A |
possibly damaging |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,832,760 (GRCm39) |
K1561E |
probably benign |
Het |
| Clca4a |
A |
G |
3: 144,676,446 (GRCm39) |
V78A |
probably damaging |
Het |
| Clec4n |
G |
A |
6: 123,223,526 (GRCm39) |
M170I |
possibly damaging |
Het |
| Cp |
G |
T |
3: 20,033,116 (GRCm39) |
A648S |
probably benign |
Het |
| Creld2 |
G |
A |
15: 88,704,834 (GRCm39) |
W103* |
probably null |
Het |
| Dnah8 |
A |
G |
17: 31,074,910 (GRCm39) |
D4543G |
probably damaging |
Het |
| Elp3 |
A |
G |
14: 65,785,370 (GRCm39) |
V477A |
probably damaging |
Het |
| Exoc6b |
A |
G |
6: 84,885,205 (GRCm39) |
S245P |
probably benign |
Het |
| Fkbp9 |
G |
T |
6: 56,837,682 (GRCm39) |
G312V |
probably damaging |
Het |
| Htr4 |
A |
G |
18: 62,570,624 (GRCm39) |
I226M |
probably damaging |
Het |
| Impa2 |
G |
A |
18: 67,451,497 (GRCm39) |
V264I |
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,914,486 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
C |
A |
5: 25,515,981 (GRCm39) |
V2621F |
possibly damaging |
Het |
| Lif |
A |
G |
11: 4,219,237 (GRCm39) |
D172G |
probably damaging |
Het |
| Llgl1 |
C |
A |
11: 60,595,559 (GRCm39) |
H82N |
probably benign |
Het |
| Lrwd1 |
T |
C |
5: 136,162,273 (GRCm39) |
I162M |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,694,511 (GRCm39) |
I1078N |
probably damaging |
Het |
| Muc1 |
A |
T |
3: 89,137,745 (GRCm39) |
T196S |
probably benign |
Het |
| Myh7b |
T |
C |
2: 155,464,634 (GRCm39) |
L657P |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Ppp1cb |
T |
C |
5: 32,645,015 (GRCm39) |
M55T |
probably damaging |
Het |
| Ppp1r9a |
T |
C |
6: 5,159,697 (GRCm39) |
M1078T |
possibly damaging |
Het |
| Rarg |
T |
C |
15: 102,149,595 (GRCm39) |
T125A |
probably damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Slc5a7 |
G |
A |
17: 54,600,039 (GRCm39) |
R125C |
probably damaging |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tigit |
G |
T |
16: 43,469,485 (GRCm39) |
T202N |
probably benign |
Het |
| Tmem132b |
C |
T |
5: 125,860,606 (GRCm39) |
A617V |
possibly damaging |
Het |
| Tpm1 |
T |
C |
9: 66,938,400 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
A |
G |
2: 69,768,659 (GRCm39) |
|
probably benign |
Het |
| Vcan |
T |
A |
13: 89,852,422 (GRCm39) |
D846V |
probably damaging |
Het |
| Vmn1r16 |
T |
G |
6: 57,300,221 (GRCm39) |
N134H |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGAACAAGGCTGCGTCAAG -3'
(R):5'- TGCCAAGCTGGACACTGTTCAAG -3'
Sequencing Primer
(F):5'- GTTTGGAAAAGAGGCTTGAAGTCAG -3'
(R):5'- TGGACACTGTTCAAGGCATC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation