Incidental Mutation 'IGL01575:Commd3'
| ID |
91233 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Commd3
|
| Ensembl Gene |
ENSMUSG00000051154 |
| Gene Name |
COMM domain containing 3 |
| Synonyms |
Bup, D2Ertd542e |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.797)
|
| Stock # |
IGL01575
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
18677246-18681042 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 18679528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000061158
|
| SMART Domains |
Protein: ENSMUSP00000049882
Gene: ENSMUSG00000051154
| 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 |
probably null
Transcript: ENSMUST00000171845
|
| SMART Domains |
Protein: ENSMUSP00000127385
Gene: ENSMUSG00000051154
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HCaRG
|
14 |
192 |
1.2e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151230
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151974
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137317
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154519
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150590
|
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc2 |
C |
T |
2: 25,175,188 (GRCm39) |
|
probably benign |
Het |
| Atp10b |
G |
A |
11: 43,063,548 (GRCm39) |
R161H |
probably benign |
Het |
| Boll |
A |
G |
1: 55,362,807 (GRCm39) |
|
probably null |
Het |
| Cngb1 |
G |
A |
8: 95,991,148 (GRCm39) |
P226S |
possibly damaging |
Het |
| Ddx46 |
C |
T |
13: 55,801,996 (GRCm39) |
|
probably benign |
Het |
| Dmrtb1 |
A |
G |
4: 107,541,265 (GRCm39) |
I32T |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,466,979 (GRCm39) |
|
probably benign |
Het |
| Dppa5a |
A |
G |
9: 78,275,062 (GRCm39) |
I80T |
possibly damaging |
Het |
| Galntl6 |
T |
C |
8: 58,880,710 (GRCm39) |
|
probably benign |
Het |
| Hmgcr |
A |
G |
13: 96,793,103 (GRCm39) |
Y510H |
possibly damaging |
Het |
| Idua |
G |
T |
5: 108,829,973 (GRCm39) |
R505L |
possibly damaging |
Het |
| Ifna15 |
A |
G |
4: 88,476,044 (GRCm39) |
F147L |
probably damaging |
Het |
| Itga4 |
T |
C |
2: 79,118,599 (GRCm39) |
S433P |
probably damaging |
Het |
| Kcnc1 |
T |
C |
7: 46,077,523 (GRCm39) |
Y442H |
possibly damaging |
Het |
| Kmt2d |
A |
G |
15: 98,744,736 (GRCm39) |
|
probably benign |
Het |
| Mpp7 |
A |
G |
18: 7,403,365 (GRCm39) |
|
probably benign |
Het |
| Or14c39 |
T |
C |
7: 86,344,501 (GRCm39) |
V279A |
probably benign |
Het |
| Or5p64 |
A |
C |
7: 107,854,742 (GRCm39) |
V201G |
possibly damaging |
Het |
| Or6c75 |
A |
G |
10: 129,337,436 (GRCm39) |
I228V |
probably benign |
Het |
| Pam16l |
T |
C |
10: 43,400,411 (GRCm39) |
V55A |
probably benign |
Het |
| Phf14 |
T |
C |
6: 11,990,050 (GRCm39) |
L693S |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,792,102 (GRCm39) |
N1263S |
probably damaging |
Het |
| Rhbdl1 |
G |
T |
17: 26,055,112 (GRCm39) |
A32E |
possibly damaging |
Het |
| Samd9l |
A |
G |
6: 3,376,734 (GRCm39) |
S176P |
possibly damaging |
Het |
| Scn1a |
G |
T |
2: 66,103,580 (GRCm39) |
F1893L |
probably damaging |
Het |
| Serpina3f |
C |
A |
12: 104,184,699 (GRCm39) |
P281Q |
probably damaging |
Het |
| Slc35a1 |
G |
T |
4: 34,668,932 (GRCm39) |
Q294K |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,435,976 (GRCm39) |
S1154N |
probably benign |
Het |
| Tdrd6 |
A |
G |
17: 43,938,871 (GRCm39) |
S726P |
probably benign |
Het |
| Tiam2 |
A |
T |
17: 3,504,591 (GRCm39) |
E24V |
probably damaging |
Het |
| Tmf1 |
T |
C |
6: 97,152,897 (GRCm39) |
E392G |
probably damaging |
Het |
| Tns2 |
T |
C |
15: 102,021,626 (GRCm39) |
V1089A |
probably damaging |
Het |
| Tspyl1 |
C |
A |
10: 34,159,086 (GRCm39) |
N270K |
probably damaging |
Het |
| Usp32 |
A |
T |
11: 84,913,628 (GRCm39) |
V901D |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,224,031 (GRCm39) |
I764V |
probably benign |
Het |
| Wnk2 |
A |
G |
13: 49,300,152 (GRCm39) |
V186A |
probably damaging |
Het |
| Zdhhc18 |
A |
G |
4: 133,341,210 (GRCm39) |
V221A |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation