Incidental Mutation 'IGL02530:C9'
| ID |
297288 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
C9
|
| Ensembl Gene |
ENSMUSG00000022149 |
| Gene Name |
complement component 9 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02530
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
6474808-6528232 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 6526613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 549
(M549K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022749]
|
| AlphaFold |
P06683 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022749
AA Change: M549K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022749
Gene: ENSMUSG00000022149
AA Change: M549K
| 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 |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
T |
C |
7: 66,559,124 (GRCm39) |
F305L |
probably damaging |
Het |
| Ankrd12 |
T |
C |
17: 66,291,398 (GRCm39) |
H1345R |
probably benign |
Het |
| Bloc1s5 |
A |
T |
13: 38,787,859 (GRCm39) |
M175K |
probably damaging |
Het |
| Cfap52 |
A |
G |
11: 67,845,007 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
A |
T |
6: 46,998,670 (GRCm39) |
K907N |
possibly damaging |
Het |
| Cox8c |
T |
A |
12: 102,865,752 (GRCm39) |
|
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp26b1 |
A |
T |
6: 84,551,294 (GRCm39) |
N307K |
possibly damaging |
Het |
| Cyp2s1 |
T |
C |
7: 25,515,849 (GRCm39) |
|
probably benign |
Het |
| Dpysl2 |
G |
A |
14: 67,061,847 (GRCm39) |
T253I |
probably damaging |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Egflam |
T |
A |
15: 7,252,293 (GRCm39) |
I835F |
probably damaging |
Het |
| Eif5a |
A |
T |
11: 69,809,989 (GRCm39) |
H51Q |
possibly damaging |
Het |
| Fancd2 |
T |
A |
6: 113,539,422 (GRCm39) |
I637N |
probably damaging |
Het |
| Gpr173 |
T |
A |
X: 151,130,092 (GRCm39) |
H127L |
probably damaging |
Het |
| Klc3 |
T |
C |
7: 19,130,969 (GRCm39) |
I203V |
probably benign |
Het |
| Lsg1 |
T |
C |
16: 30,390,060 (GRCm39) |
K352E |
probably benign |
Het |
| Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
| Med12l |
G |
T |
3: 58,984,510 (GRCm39) |
D483Y |
probably damaging |
Het |
| Mlh1 |
A |
G |
9: 111,058,943 (GRCm39) |
Y694H |
probably benign |
Het |
| Mmrn1 |
A |
G |
6: 60,935,160 (GRCm39) |
R219G |
possibly damaging |
Het |
| Nsd1 |
T |
C |
13: 55,450,646 (GRCm39) |
|
probably benign |
Het |
| Or2y1f |
A |
T |
11: 49,184,555 (GRCm39) |
M136L |
possibly damaging |
Het |
| Or8k33 |
C |
T |
2: 86,384,224 (GRCm39) |
M81I |
possibly damaging |
Het |
| Pax3 |
A |
T |
1: 78,098,424 (GRCm39) |
S322T |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
| Plekhb2 |
T |
C |
1: 34,916,022 (GRCm39) |
V187A |
possibly damaging |
Het |
| Pot1a |
A |
T |
6: 25,794,592 (GRCm39) |
F31I |
probably damaging |
Het |
| Rpap1 |
A |
T |
2: 119,613,720 (GRCm39) |
|
probably benign |
Het |
| Scmh1 |
T |
A |
4: 120,385,343 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,560,522 (GRCm39) |
T1251A |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,001,634 (GRCm39) |
V148A |
probably benign |
Het |
| Slit3 |
A |
G |
11: 35,598,969 (GRCm39) |
*1524W |
probably null |
Het |
| Son |
C |
A |
16: 91,455,359 (GRCm39) |
P1369T |
possibly damaging |
Het |
| Spp2 |
T |
A |
1: 88,338,868 (GRCm39) |
L25* |
probably null |
Het |
| Sptbn4 |
T |
C |
7: 27,090,976 (GRCm39) |
Q1405R |
probably damaging |
Het |
| Traf3ip2 |
G |
T |
10: 39,522,902 (GRCm39) |
A463S |
possibly damaging |
Het |
| Trappc11 |
T |
C |
8: 47,960,617 (GRCm39) |
E27G |
probably damaging |
Het |
| Vmn2r12 |
C |
T |
5: 109,233,858 (GRCm39) |
V785I |
probably damaging |
Het |
| Zc3h8 |
A |
G |
2: 128,785,846 (GRCm39) |
|
probably benign |
Het |
| Zfp57 |
T |
A |
17: 37,317,056 (GRCm39) |
S45T |
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 |
|
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 |
|
R5544:C9
|
UTSW |
15 |
6,526,508 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation