Incidental Mutation 'R5456:Commd3'
| ID |
432742 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Commd3
|
| Ensembl Gene |
ENSMUSG00000051154 |
| Gene Name |
COMM domain containing 3 |
| Synonyms |
Bup, D2Ertd542e |
| MMRRC Submission |
043019-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.846)
|
| Stock # |
R5456 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
18677246-18681042 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18678968 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 95
(E95G)
|
| 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: E95G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000049882
Gene: ENSMUSG00000051154
AA Change: E95G
| 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: ENSMUST00000137317
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151974
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154519
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171845
AA Change: E95G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000127385
Gene: ENSMUSG00000051154
AA Change: E95G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HCaRG
|
14 |
192 |
1.2e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151230
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot12 |
A |
G |
13: 91,889,759 (GRCm39) |
D37G |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 35,118,892 (GRCm39) |
F1081S |
probably damaging |
Het |
| Apmap |
T |
A |
2: 150,431,989 (GRCm39) |
I128L |
probably benign |
Het |
| Arhgap12 |
G |
A |
18: 6,112,170 (GRCm39) |
Q65* |
probably null |
Het |
| Baat |
C |
T |
4: 49,502,949 (GRCm39) |
V58I |
possibly damaging |
Het |
| Bco2 |
T |
C |
9: 50,456,644 (GRCm39) |
|
probably null |
Het |
| Bend3 |
T |
C |
10: 43,386,542 (GRCm39) |
Y312H |
probably damaging |
Het |
| Btnl2 |
A |
T |
17: 34,582,295 (GRCm39) |
Y287F |
probably benign |
Het |
| Cd22 |
T |
C |
7: 30,575,464 (GRCm39) |
I193V |
probably benign |
Het |
| Dcbld1 |
A |
G |
10: 52,190,486 (GRCm39) |
D215G |
probably damaging |
Het |
| Elfn1 |
A |
G |
5: 139,958,571 (GRCm39) |
Y525C |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,399,877 (GRCm39) |
T409A |
probably benign |
Het |
| Fshr |
T |
A |
17: 89,293,776 (GRCm39) |
I301F |
probably benign |
Het |
| Hemgn |
C |
T |
4: 46,396,571 (GRCm39) |
V222M |
probably damaging |
Het |
| Igsf3 |
C |
T |
3: 101,334,537 (GRCm39) |
H205Y |
probably benign |
Het |
| Mfsd1 |
T |
C |
3: 67,497,166 (GRCm39) |
I147T |
probably benign |
Het |
| Mslnl |
A |
G |
17: 25,962,133 (GRCm39) |
D177G |
probably damaging |
Het |
| Nat2 |
G |
A |
8: 67,954,225 (GRCm39) |
V112I |
probably damaging |
Het |
| Or4c10b |
G |
A |
2: 89,711,602 (GRCm39) |
G144E |
probably damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Pabpc1l |
T |
C |
2: 163,869,580 (GRCm39) |
S127P |
probably damaging |
Het |
| Poln |
A |
T |
5: 34,164,786 (GRCm39) |
L845Q |
possibly damaging |
Het |
| Ppm1f |
T |
A |
16: 16,741,610 (GRCm39) |
D361E |
probably damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,692,381 (GRCm39) |
|
probably null |
Het |
| Rarb |
G |
A |
14: 16,436,843 (GRCm38) |
T226I |
probably damaging |
Het |
| Sel1l3 |
T |
C |
5: 53,357,378 (GRCm39) |
K205E |
probably benign |
Het |
| Sh3glb1 |
T |
A |
3: 144,415,114 (GRCm39) |
I75L |
probably benign |
Het |
| Srgap1 |
G |
A |
10: 121,705,716 (GRCm39) |
S236L |
probably benign |
Het |
| Tmco3 |
A |
G |
8: 13,369,815 (GRCm39) |
Y609C |
probably damaging |
Het |
| Trhde |
A |
G |
10: 114,322,665 (GRCm39) |
V712A |
possibly damaging |
Het |
| Trim13 |
A |
G |
14: 61,842,523 (GRCm39) |
D180G |
possibly damaging |
Het |
| Tst |
T |
C |
15: 78,284,158 (GRCm39) |
E223G |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,201,263 (GRCm39) |
I397M |
probably benign |
Het |
| Usp31 |
T |
C |
7: 121,269,500 (GRCm39) |
D481G |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,834,729 (GRCm39) |
M1686K |
possibly damaging |
Het |
| Wdr83 |
T |
C |
8: 85,806,837 (GRCm39) |
H81R |
probably benign |
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 |
|
R3011:Commd3
|
UTSW |
2 |
18,679,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GAAACAGATCGACCCAGTGG -3'
(R):5'- ACAGTACCTACCTTCCCAGTAGG -3'
Sequencing Primer
(F):5'- CATTGTCATGCAGCAGCTG -3'
(R):5'- CAGTTTTGCAAACAGCAGG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation