Incidental Mutation 'R1223:Commd3'
ID |
152786 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Commd3
|
Ensembl Gene |
ENSMUSG00000051154 |
Gene Name |
COMM domain containing 3 |
Synonyms |
Bup, D2Ertd542e |
MMRRC Submission |
039292-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.797)
|
Stock # |
R1223 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
18677246-18681042 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 18679779 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 163
(Y163H)
|
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 benign
Transcript: ENSMUST00000061158
AA Change: Y163H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000049882 Gene: ENSMUSG00000051154 AA Change: Y163H
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 |
probably benign
Transcript: ENSMUST00000171845
AA Change: Y163H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000127385 Gene: ENSMUSG00000051154 AA Change: Y163H
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: ENSMUST00000137317
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133828
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151230
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154519
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137817
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151974
|
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: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy9 |
A |
T |
16: 4,116,612 (GRCm39) |
V873E |
probably damaging |
Het |
Arl10 |
A |
G |
13: 54,726,744 (GRCm39) |
D174G |
probably damaging |
Het |
Cd180 |
A |
T |
13: 102,842,730 (GRCm39) |
Y592F |
possibly damaging |
Het |
Ces3a |
A |
T |
8: 105,784,661 (GRCm39) |
T548S |
probably benign |
Het |
Chd2 |
T |
C |
7: 73,134,265 (GRCm39) |
E694G |
probably damaging |
Het |
Cyp8b1 |
A |
G |
9: 121,744,070 (GRCm39) |
S421P |
possibly damaging |
Het |
Cysltr2 |
A |
T |
14: 73,267,539 (GRCm39) |
V57E |
probably damaging |
Het |
Ddx47 |
G |
A |
6: 134,989,277 (GRCm39) |
V34I |
possibly damaging |
Het |
Dgkz |
T |
C |
2: 91,769,660 (GRCm39) |
|
probably benign |
Het |
Dsg2 |
G |
T |
18: 20,706,550 (GRCm39) |
C22F |
probably benign |
Het |
Gbp10 |
A |
C |
5: 105,366,867 (GRCm39) |
V455G |
probably damaging |
Het |
Gm12185 |
T |
A |
11: 48,798,103 (GRCm39) |
I797F |
probably damaging |
Het |
Katnip |
T |
A |
7: 125,359,595 (GRCm39) |
V62E |
possibly damaging |
Het |
Lrrk2 |
A |
G |
15: 91,557,838 (GRCm39) |
E58G |
probably benign |
Het |
Mrgprb1 |
A |
G |
7: 48,097,435 (GRCm39) |
V159A |
possibly damaging |
Het |
Mybphl |
A |
G |
3: 108,282,512 (GRCm39) |
T182A |
possibly damaging |
Het |
Or52e7 |
A |
T |
7: 104,684,773 (GRCm39) |
I123F |
probably benign |
Het |
Or9m1 |
G |
A |
2: 87,733,163 (GRCm39) |
P286S |
probably damaging |
Het |
Osr1 |
C |
T |
12: 9,629,699 (GRCm39) |
L191F |
probably damaging |
Het |
Pip4k2b |
G |
A |
11: 97,609,720 (GRCm39) |
R406C |
probably damaging |
Het |
Plce1 |
C |
T |
19: 38,690,457 (GRCm39) |
L714F |
probably damaging |
Het |
Plce1 |
T |
C |
19: 38,755,670 (GRCm39) |
F1886S |
probably damaging |
Het |
Ppp1cc |
A |
G |
5: 122,306,277 (GRCm39) |
E32G |
probably damaging |
Het |
Rnh1 |
A |
G |
7: 140,743,120 (GRCm39) |
L260P |
probably damaging |
Het |
Serpinb3a |
T |
A |
1: 106,975,282 (GRCm39) |
N175I |
probably damaging |
Het |
Sptbn5 |
T |
A |
2: 119,902,525 (GRCm39) |
I68F |
probably damaging |
Het |
Tas1r2 |
A |
T |
4: 139,387,515 (GRCm39) |
T325S |
probably damaging |
Het |
Tcirg1 |
T |
C |
19: 3,948,733 (GRCm39) |
N484S |
probably benign |
Het |
Tenm3 |
A |
T |
8: 48,693,431 (GRCm39) |
M1833K |
possibly damaging |
Het |
Thoc5 |
A |
G |
11: 4,871,922 (GRCm39) |
E449G |
probably benign |
Het |
Usp34 |
A |
G |
11: 23,396,464 (GRCm39) |
|
probably null |
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 |
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 |
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'- TTGGCGCTTGGAGTACCAGATAAAG -3'
(R):5'- AAATGCAGGCTACTGGGGATGTTAC -3'
Sequencing Primer
(F):5'- CTTGGAGTACCAGATAAAGGTAAAG -3'
(R):5'- GCTACTGGGGATGTTACTATGTTAC -3'
|
Posted On |
2014-01-29 |