Incidental Mutation 'R3828:Commd9'
| ID |
273835 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Commd9
|
| Ensembl Gene |
ENSMUSG00000027163 |
| Gene Name |
COMM domain containing 9 |
| Synonyms |
1810029F08Rik |
| MMRRC Submission |
040886-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3828 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
101716607-101731984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 101727486 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 93
(N93K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028584]
|
| AlphaFold |
Q8K2Q0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028584
AA Change: N93K
PolyPhen 2
Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000028584
Gene: ENSMUSG00000027163
AA Change: N93K
| 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
|
| Meta Mutation Damage Score |
0.1128 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (34/34) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Camk2b |
A |
G |
11: 5,978,932 (GRCm39) |
V32A |
probably damaging |
Het |
| Cbr2 |
A |
T |
11: 120,621,278 (GRCm39) |
H140Q |
probably benign |
Het |
| Cdk19 |
T |
C |
10: 40,351,609 (GRCm39) |
V258A |
probably damaging |
Het |
| Cep104 |
T |
G |
4: 154,069,400 (GRCm39) |
M207R |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,141,163 (GRCm39) |
Y577H |
possibly damaging |
Het |
| Col4a1 |
C |
A |
8: 11,259,650 (GRCm39) |
G1341V |
probably damaging |
Het |
| Cplane2 |
C |
T |
4: 140,945,900 (GRCm39) |
R148C |
probably damaging |
Het |
| Cx3cl1 |
A |
T |
8: 95,503,934 (GRCm39) |
|
probably benign |
Het |
| Cxcr6 |
A |
T |
9: 123,639,934 (GRCm39) |
M319L |
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,196,226 (GRCm39) |
K1308I |
probably damaging |
Het |
| Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
| Ffar2 |
A |
T |
7: 30,519,510 (GRCm39) |
I10N |
possibly damaging |
Het |
| Gm17521 |
C |
A |
X: 121,938,922 (GRCm39) |
G149C |
unknown |
Het |
| Gm5862 |
T |
G |
5: 26,224,345 (GRCm39) |
H208P |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Ino80d |
A |
T |
1: 63,101,237 (GRCm39) |
M463K |
possibly damaging |
Het |
| Lrp2 |
G |
A |
2: 69,256,356 (GRCm39) |
P4595S |
probably benign |
Het |
| Mark4 |
A |
G |
7: 19,177,112 (GRCm39) |
I239T |
possibly damaging |
Het |
| Mcoln1 |
C |
T |
8: 3,550,601 (GRCm39) |
A2V |
possibly damaging |
Het |
| Mcts1 |
T |
C |
X: 37,691,445 (GRCm39) |
|
probably benign |
Het |
| Mrgprb5 |
T |
A |
7: 47,817,839 (GRCm39) |
M299L |
probably benign |
Het |
| Ncapg2 |
A |
T |
12: 116,370,938 (GRCm39) |
|
probably benign |
Het |
| Or56a3 |
A |
G |
7: 104,735,504 (GRCm39) |
N194D |
probably benign |
Het |
| Pcdhga4 |
G |
T |
18: 37,820,654 (GRCm39) |
L734F |
possibly damaging |
Het |
| Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
| Rsph6a |
T |
C |
7: 18,791,539 (GRCm39) |
L236P |
probably damaging |
Het |
| Rtkn2 |
A |
T |
10: 67,833,456 (GRCm39) |
|
probably null |
Het |
| Stk11 |
T |
C |
10: 79,963,782 (GRCm39) |
|
probably null |
Het |
| Syt14 |
T |
C |
1: 192,584,083 (GRCm39) |
N444S |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tnks |
A |
G |
8: 35,340,332 (GRCm39) |
F429L |
probably damaging |
Het |
| Usp15 |
T |
A |
10: 123,032,775 (GRCm39) |
I16F |
possibly damaging |
Het |
| Vps50 |
T |
C |
6: 3,533,500 (GRCm39) |
I244T |
probably benign |
Het |
|
| Other mutations in Commd9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00475:Commd9
|
APN |
2 |
101,725,501 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAGTGTACAGAGCTCCAC -3'
(R):5'- ATGAACAGCTTTCCATTAAGGC -3'
Sequencing Primer
(F):5'- TGTACAGAGCTCCACCCCTG -3'
(R):5'- CCATTAAGGCAATTAAGCTCTGGGTG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation