Incidental Mutation 'R1260:Chmp7'
| ID |
151585 |
| 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 |
039327-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1260 (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: 98.2%
- 10x: 96.1%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Btnl9 |
T |
C |
11: 49,060,371 (GRCm39) |
E374G |
probably damaging |
Het |
| Car2 |
G |
A |
3: 14,960,640 (GRCm39) |
A133T |
probably damaging |
Het |
| Cpa6 |
T |
C |
1: 10,395,544 (GRCm39) |
|
probably null |
Het |
| Iqgap3 |
A |
G |
3: 88,021,330 (GRCm39) |
H462R |
probably benign |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Med7 |
C |
G |
11: 46,331,460 (GRCm39) |
I18M |
probably damaging |
Het |
| Mertk |
A |
G |
2: 128,604,072 (GRCm39) |
K402R |
probably benign |
Het |
| Myh7 |
T |
A |
14: 55,225,908 (GRCm39) |
I478F |
probably benign |
Het |
| Or14j10 |
T |
A |
17: 37,934,594 (GRCm39) |
T311S |
probably benign |
Het |
| Pdp2 |
T |
C |
8: 105,321,249 (GRCm39) |
V366A |
probably damaging |
Het |
| Plin4 |
A |
T |
17: 56,411,348 (GRCm39) |
C894* |
probably null |
Het |
| Plxnc1 |
A |
G |
10: 94,667,227 (GRCm39) |
V1149A |
probably damaging |
Het |
| Rassf9 |
G |
A |
10: 102,348,446 (GRCm39) |
|
probably null |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Stab1 |
T |
C |
14: 30,873,846 (GRCm39) |
D984G |
probably damaging |
Het |
| Usp45 |
T |
C |
4: 21,826,204 (GRCm39) |
S675P |
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 |
|
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'- AGCTGGACACTGTTCAAGGCATC -3'
Sequencing Primer
(F):5'- GTTTGGAAAAGAGGCTTGAAGTCAG -3'
(R):5'- TTCAAGGCATCCTGGATCG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation