Incidental Mutation 'R3011:Commd3'
| ID |
257496 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Commd3
|
| Ensembl Gene |
ENSMUSG00000051154 |
| Gene Name |
COMM domain containing 3 |
| Synonyms |
Bup, D2Ertd542e |
| MMRRC Submission |
040533-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.846)
|
| Stock # |
R3011 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
18677246-18681042 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18679499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 128
(V128D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028071]
[ENSMUST00000061158]
[ENSMUST00000171845]
[ENSMUST00000150834]
|
| AlphaFold |
Q63829 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028071
|
| SMART Domains |
Protein: ENSMUSP00000028071
Gene: ENSMUSG00000026739
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
56 |
4.34e-5 |
SMART |
|
low complexity region
|
146 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
264 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
323 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061158
AA Change: V128D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049882
Gene: ENSMUSG00000051154
AA Change: V128D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HCaRG
|
18 |
191 |
5.4e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130537
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131369
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132014
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133685
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133828
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137817
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151230
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151974
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171845
AA Change: V128D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127385
Gene: ENSMUSG00000051154
AA Change: V128D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HCaRG
|
14 |
192 |
1.2e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137317
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154519
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150834
|
| SMART Domains |
Protein: ENSMUSP00000119331
Gene: ENSMUSG00000026739
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
56 |
4.34e-5 |
SMART |
|
low complexity region
|
146 |
159 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9077 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (29/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap31 |
A |
C |
16: 38,422,269 (GRCm39) |
C1266G |
possibly damaging |
Het |
| Brme1 |
C |
A |
8: 84,893,539 (GRCm39) |
Y235* |
probably null |
Het |
| Cers5 |
A |
G |
15: 99,670,598 (GRCm39) |
|
probably benign |
Het |
| Clasp2 |
C |
T |
9: 113,730,581 (GRCm39) |
T905M |
probably damaging |
Het |
| Clec16a |
A |
G |
16: 10,428,975 (GRCm39) |
N469S |
probably benign |
Het |
| Cped1 |
A |
G |
6: 22,088,695 (GRCm39) |
T253A |
probably damaging |
Het |
| Dnajc5b |
A |
T |
3: 19,600,966 (GRCm39) |
Y21F |
probably damaging |
Het |
| Fhip2a |
T |
A |
19: 57,373,720 (GRCm39) |
L660Q |
probably damaging |
Het |
| Gm14403 |
A |
G |
2: 177,200,786 (GRCm39) |
D244G |
probably benign |
Het |
| Gm5414 |
T |
C |
15: 101,534,047 (GRCm39) |
D312G |
probably damaging |
Het |
| Ifi204 |
T |
C |
1: 173,579,217 (GRCm39) |
S543G |
probably benign |
Het |
| Itga11 |
T |
A |
9: 62,604,262 (GRCm39) |
I50N |
probably damaging |
Het |
| Lct |
C |
T |
1: 128,229,109 (GRCm39) |
V795I |
possibly damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,503,929 (GRCm39) |
T504S |
possibly damaging |
Het |
| Map2 |
A |
G |
1: 66,453,771 (GRCm39) |
D887G |
probably damaging |
Het |
| Mgat4e |
T |
A |
1: 134,469,846 (GRCm39) |
D66V |
possibly damaging |
Het |
| Nqo1 |
C |
T |
8: 108,115,743 (GRCm39) |
R178H |
probably benign |
Het |
| Or13e8 |
G |
T |
4: 43,696,624 (GRCm39) |
A183E |
probably damaging |
Het |
| Or5h22 |
A |
G |
16: 58,895,350 (GRCm39) |
V31A |
probably benign |
Het |
| Otof |
G |
A |
5: 30,540,184 (GRCm39) |
A999V |
probably damaging |
Het |
| Phf20 |
A |
G |
2: 156,129,946 (GRCm39) |
D506G |
probably benign |
Het |
| Pth2r |
C |
T |
1: 65,376,147 (GRCm39) |
H97Y |
probably benign |
Het |
| Snx18 |
G |
A |
13: 113,753,422 (GRCm39) |
Q504* |
probably null |
Het |
| Sppl2c |
C |
T |
11: 104,078,141 (GRCm39) |
P314S |
probably benign |
Het |
| Srgap2 |
T |
A |
1: 131,238,329 (GRCm39) |
Q520L |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tlr4 |
A |
T |
4: 66,757,491 (GRCm39) |
K95* |
probably null |
Het |
| Tmem59l |
A |
T |
8: 70,938,887 (GRCm39) |
C96S |
probably damaging |
Het |
| Tmtc3 |
G |
T |
10: 100,283,444 (GRCm39) |
P704T |
possibly damaging |
Het |
| Upp2 |
T |
C |
2: 58,680,107 (GRCm39) |
V293A |
probably damaging |
Het |
| Vps72 |
A |
G |
3: 95,026,585 (GRCm39) |
K177E |
probably damaging |
Het |
|
| Other mutations in Commd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00482:Commd3
|
APN |
2 |
18,678,739 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL00972:Commd3
|
APN |
2 |
18,679,476 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01309:Commd3
|
APN |
2 |
18,677,289 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL01575:Commd3
|
APN |
2 |
18,679,528 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02207:Commd3
|
APN |
2 |
18,678,819 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0062:Commd3
|
UTSW |
2 |
18,679,514 (GRCm39) |
splice site |
probably null |
|
|
R0062:Commd3
|
UTSW |
2 |
18,679,514 (GRCm39) |
splice site |
probably null |
|
|
R0699:Commd3
|
UTSW |
2 |
18,679,786 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1223:Commd3
|
UTSW |
2 |
18,679,779 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1959:Commd3
|
UTSW |
2 |
18,678,774 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4710:Commd3
|
UTSW |
2 |
18,679,093 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4821:Commd3
|
UTSW |
2 |
18,677,339 (GRCm39) |
missense |
probably benign |
|
|
R5098:Commd3
|
UTSW |
2 |
18,678,988 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5456:Commd3
|
UTSW |
2 |
18,678,968 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5891:Commd3
|
UTSW |
2 |
18,678,626 (GRCm39) |
intron |
probably benign |
|
|
R6511:Commd3
|
UTSW |
2 |
18,679,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGATCCTGACCCAAAATAAAG -3'
(R):5'- CATTTAAGGTCACCAAATATCCAGG -3'
Sequencing Primer
(F):5'- CCTGACATAATCTTAGTAGGTGTGC -3'
(R):5'- CCAGGTCGGTACATCTTATGAAG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation