Incidental Mutation 'IGL00475:Commd9'
| ID |
9836 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Commd9
|
| Ensembl Gene |
ENSMUSG00000027163 |
| Gene Name |
COMM domain containing 9 |
| Synonyms |
1810029F08Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00475
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
101716607-101731984 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 101725501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 25
(R25*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028584]
|
| AlphaFold |
Q8K2Q0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028584
AA Change: R25*
|
| SMART Domains |
Protein: ENSMUSP00000028584
Gene: ENSMUSG00000027163
AA Change: R25*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HCaRG
|
15 |
194 |
9e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131287
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133576
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156799
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality, neural tube edema, and cardiovascular abnormalities including hemorrhages, heart hypoplasia, focal myocardial wall necrosis and narrowing of the dorsal aortas, and alterations in cranial blood vessels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
G |
A |
16: 14,254,437 (GRCm39) |
A583T |
probably damaging |
Het |
| Cdh10 |
A |
T |
15: 19,013,349 (GRCm39) |
I650F |
probably damaging |
Het |
| Ces1a |
A |
G |
8: 93,747,095 (GRCm39) |
L548P |
probably damaging |
Het |
| Depdc1b |
T |
A |
13: 108,493,974 (GRCm39) |
Y121N |
probably benign |
Het |
| Epha6 |
A |
T |
16: 59,736,325 (GRCm39) |
F736L |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,545,571 (GRCm39) |
K868R |
probably benign |
Het |
| Fgd1 |
C |
T |
X: 149,855,440 (GRCm39) |
A502V |
probably benign |
Het |
| Gm5111 |
A |
T |
6: 48,566,620 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
G |
T |
11: 57,133,767 (GRCm39) |
G480* |
probably null |
Het |
| Krt5 |
T |
C |
15: 101,621,076 (GRCm39) |
Y57C |
unknown |
Het |
| Metap1d |
C |
T |
2: 71,346,090 (GRCm39) |
A217V |
probably damaging |
Het |
| Mrpl1 |
A |
G |
5: 96,374,144 (GRCm39) |
K140E |
probably damaging |
Het |
| Mta3 |
C |
T |
17: 84,015,861 (GRCm39) |
P21L |
probably damaging |
Het |
| Nanog |
A |
T |
6: 122,688,495 (GRCm39) |
|
probably null |
Het |
| Ogn |
A |
G |
13: 49,776,391 (GRCm39) |
I277V |
probably benign |
Het |
| Pole |
T |
A |
5: 110,438,962 (GRCm39) |
Y187* |
probably null |
Het |
| Psme4 |
A |
T |
11: 30,795,252 (GRCm39) |
K1254I |
probably benign |
Het |
| Rac1 |
G |
A |
5: 143,493,093 (GRCm39) |
A165V |
possibly damaging |
Het |
| Srcap |
T |
A |
7: 127,152,093 (GRCm39) |
M2185K |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,176,077 (GRCm39) |
D274V |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,919,246 (GRCm39) |
Y376* |
probably null |
Het |
| Tead1 |
C |
A |
7: 112,438,662 (GRCm39) |
T66K |
probably damaging |
Het |
| Vps53 |
C |
T |
11: 75,967,861 (GRCm39) |
|
probably null |
Het |
| Zfp658 |
A |
G |
7: 43,223,500 (GRCm39) |
R592G |
possibly damaging |
Het |
| Zfyve1 |
T |
A |
12: 83,602,485 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Commd9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02232:Commd9
|
APN |
2 |
101,731,324 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL03109:Commd9
|
APN |
2 |
101,727,515 (GRCm39) |
missense |
probably benign |
|
|
R1873:Commd9
|
UTSW |
2 |
101,727,502 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1933:Commd9
|
UTSW |
2 |
101,731,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3826:Commd9
|
UTSW |
2 |
101,727,486 (GRCm39) |
missense |
probably benign |
0.18 |
|
R3828:Commd9
|
UTSW |
2 |
101,727,486 (GRCm39) |
missense |
probably benign |
0.18 |
|
R3829:Commd9
|
UTSW |
2 |
101,727,486 (GRCm39) |
missense |
probably benign |
0.18 |
|
R3968:Commd9
|
UTSW |
2 |
101,727,486 (GRCm39) |
missense |
probably benign |
0.18 |
|
R3969:Commd9
|
UTSW |
2 |
101,727,486 (GRCm39) |
missense |
probably benign |
0.18 |
|
R3970:Commd9
|
UTSW |
2 |
101,727,486 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4059:Commd9
|
UTSW |
2 |
101,725,499 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4795:Commd9
|
UTSW |
2 |
101,729,241 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5289:Commd9
|
UTSW |
2 |
101,729,239 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5426:Commd9
|
UTSW |
2 |
101,729,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5437:Commd9
|
UTSW |
2 |
101,731,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7209:Commd9
|
UTSW |
2 |
101,725,483 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7425:Commd9
|
UTSW |
2 |
101,730,245 (GRCm39) |
nonsense |
probably null |
|
|
R7552:Commd9
|
UTSW |
2 |
101,731,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9615:Commd9
|
UTSW |
2 |
101,727,436 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Posted On |
2012-12-06 |
Incidental Mutation