Incidental Mutation 'R5544:C9'
| ID |
436164 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C9
|
| Ensembl Gene |
ENSMUSG00000022149 |
| Gene Name |
complement component 9 |
| Synonyms |
|
| MMRRC Submission |
043102-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5544 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
6474808-6528232 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 6526508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 514
(V514D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022749]
|
| AlphaFold |
P06683 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022749
AA Change: V514D
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022749
Gene: ENSMUSG00000022149
AA Change: V514D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
TSP1
|
56 |
106 |
1.8e-6 |
SMART |
|
LDLa
|
111 |
147 |
2.7e-12 |
SMART |
|
MACPF
|
304 |
519 |
2.9e-52 |
SMART |
|
Blast:EGF
|
525 |
556 |
4e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147905
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158124
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts8 |
G |
A |
9: 30,863,999 (GRCm39) |
A372T |
probably damaging |
Het |
| Ap4m1 |
A |
G |
5: 138,176,632 (GRCm39) |
T411A |
probably benign |
Het |
| Arid3b |
T |
A |
9: 57,705,380 (GRCm39) |
K274* |
probably null |
Het |
| Bcan |
A |
G |
3: 87,900,360 (GRCm39) |
|
probably null |
Het |
| Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
| Cdk2 |
A |
C |
10: 128,535,008 (GRCm39) |
D336E |
probably benign |
Het |
| Corin |
A |
T |
5: 72,462,357 (GRCm39) |
Y825* |
probably null |
Het |
| Cyp17a1 |
A |
G |
19: 46,661,093 (GRCm39) |
Y64H |
probably damaging |
Het |
| Dock4 |
T |
G |
12: 40,884,701 (GRCm39) |
I1735S |
possibly damaging |
Het |
| Dock7 |
T |
C |
4: 98,855,494 (GRCm39) |
H1486R |
probably damaging |
Het |
| Fam171b |
C |
A |
2: 83,685,871 (GRCm39) |
A185D |
possibly damaging |
Het |
| Fbxl13 |
A |
G |
5: 21,729,489 (GRCm39) |
I441T |
probably damaging |
Het |
| Gm7347 |
T |
A |
5: 26,260,016 (GRCm39) |
D178V |
possibly damaging |
Het |
| Greb1 |
C |
A |
12: 16,723,797 (GRCm39) |
C1884F |
probably damaging |
Het |
| Kdr |
G |
A |
5: 76,121,403 (GRCm39) |
R536* |
probably null |
Het |
| Lamc2 |
T |
C |
1: 152,999,799 (GRCm39) |
T1187A |
possibly damaging |
Het |
| Mal |
T |
A |
2: 127,476,937 (GRCm39) |
H142L |
probably damaging |
Het |
| Map4k2 |
A |
C |
19: 6,395,944 (GRCm39) |
|
probably null |
Het |
| Morn4 |
T |
C |
19: 42,064,686 (GRCm39) |
T101A |
possibly damaging |
Het |
| Neto2 |
A |
G |
8: 86,374,506 (GRCm39) |
V241A |
possibly damaging |
Het |
| Nprl2 |
T |
C |
9: 107,421,808 (GRCm39) |
V232A |
probably benign |
Het |
| Pcdhb13 |
T |
C |
18: 37,576,573 (GRCm39) |
V317A |
possibly damaging |
Het |
| Pcdhb17 |
T |
A |
18: 37,620,474 (GRCm39) |
C755S |
possibly damaging |
Het |
| Pgc |
A |
G |
17: 48,043,429 (GRCm39) |
D259G |
probably benign |
Het |
| Ptprh |
C |
A |
7: 4,583,909 (GRCm39) |
E228* |
probably null |
Het |
| R3hdml |
A |
G |
2: 163,340,342 (GRCm39) |
T170A |
probably damaging |
Het |
| Retreg2 |
T |
G |
1: 75,121,333 (GRCm39) |
*174G |
probably null |
Het |
| Rps6ka1 |
A |
G |
4: 133,599,326 (GRCm39) |
S34P |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,305,780 (GRCm39) |
T1038A |
possibly damaging |
Het |
| Sel1l3 |
A |
T |
5: 53,357,644 (GRCm39) |
V116D |
probably damaging |
Het |
| Sidt2 |
A |
T |
9: 45,855,753 (GRCm39) |
Y509N |
probably damaging |
Het |
| Slc16a11 |
T |
A |
11: 70,105,826 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
G |
T |
6: 12,379,470 (GRCm39) |
Q985K |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,556,882 (GRCm39) |
N30041S |
probably benign |
Het |
| Vmn1r231 |
A |
G |
17: 21,110,840 (GRCm39) |
I25T |
probably damaging |
Het |
| Wdr81 |
T |
C |
11: 75,332,623 (GRCm39) |
D1926G |
probably damaging |
Het |
|
| Other mutations in C9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00096:C9
|
APN |
15 |
6,516,137 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL00229:C9
|
APN |
15 |
6,512,712 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL00647:C9
|
APN |
15 |
6,512,564 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01618:C9
|
APN |
15 |
6,489,149 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02530:C9
|
APN |
15 |
6,526,613 (GRCm39) |
missense |
probably benign |
|
|
R0267:C9
|
UTSW |
15 |
6,496,939 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0477:C9
|
UTSW |
15 |
6,487,664 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0552:C9
|
UTSW |
15 |
6,474,918 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0701:C9
|
UTSW |
15 |
6,496,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0792:C9
|
UTSW |
15 |
6,516,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0881:C9
|
UTSW |
15 |
6,488,349 (GRCm39) |
splice site |
probably benign |
|
|
R1281:C9
|
UTSW |
15 |
6,519,321 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1384:C9
|
UTSW |
15 |
6,488,415 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1522:C9
|
UTSW |
15 |
6,516,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1988:C9
|
UTSW |
15 |
6,512,619 (GRCm39) |
frame shift |
probably null |
|
|
R2229:C9
|
UTSW |
15 |
6,474,901 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2406:C9
|
UTSW |
15 |
6,512,780 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3720:C9
|
UTSW |
15 |
6,512,600 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3723:C9
|
UTSW |
15 |
6,512,561 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3929:C9
|
UTSW |
15 |
6,496,939 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4371:C9
|
UTSW |
15 |
6,520,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4615:C9
|
UTSW |
15 |
6,520,944 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4616:C9
|
UTSW |
15 |
6,520,944 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4618:C9
|
UTSW |
15 |
6,520,944 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4749:C9
|
UTSW |
15 |
6,519,311 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4764:C9
|
UTSW |
15 |
6,489,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5723:C9
|
UTSW |
15 |
6,516,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5813:C9
|
UTSW |
15 |
6,526,607 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6735:C9
|
UTSW |
15 |
6,519,387 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6754:C9
|
UTSW |
15 |
6,519,424 (GRCm39) |
nonsense |
probably null |
|
|
R6956:C9
|
UTSW |
15 |
6,474,945 (GRCm39) |
missense |
probably benign |
|
|
R7706:C9
|
UTSW |
15 |
6,488,402 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7791:C9
|
UTSW |
15 |
6,519,359 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7893:C9
|
UTSW |
15 |
6,512,726 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7977:C9
|
UTSW |
15 |
6,496,943 (GRCm39) |
nonsense |
probably null |
|
|
R7987:C9
|
UTSW |
15 |
6,496,943 (GRCm39) |
nonsense |
probably null |
|
|
R8185:C9
|
UTSW |
15 |
6,520,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9013:C9
|
UTSW |
15 |
6,516,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9569:C9
|
UTSW |
15 |
6,489,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9716:C9
|
UTSW |
15 |
6,526,430 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1177:C9
|
UTSW |
15 |
6,521,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTTCATCACTAGCGTACCCTCAAAG -3'
(R):5'- CAAAATCAGTTCATCTCACCTGAAG -3'
Sequencing Primer
(F):5'- TAGCGTACCCTCAAAGGTTAAC -3'
(R):5'- CTAAACATCATTGGGCAGG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation