Incidental Mutation 'IGL01618:C9'
ID |
92470 |
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 # |
IGL01618
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
6474808-6528232 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 6489149 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Aspartic acid
at position 169
(Y169D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022749
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022749]
|
AlphaFold |
P06683 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022749
AA Change: Y169D
PolyPhen 2
Score 0.379 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000022749 Gene: ENSMUSG00000022149 AA Change: Y169D
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: ENSMUST00000128097
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl5 |
C |
T |
19: 55,261,265 (GRCm39) |
A74V |
probably benign |
Het |
Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
Aldh1a3 |
G |
A |
7: 66,058,978 (GRCm39) |
T239I |
probably damaging |
Het |
Anxa9 |
A |
G |
3: 95,207,847 (GRCm39) |
|
probably null |
Het |
Atp5me |
C |
A |
5: 108,581,899 (GRCm39) |
K28N |
probably damaging |
Het |
Chat |
T |
A |
14: 32,168,849 (GRCm39) |
|
probably null |
Het |
Csmd3 |
C |
T |
15: 47,874,479 (GRCm39) |
E706K |
probably benign |
Het |
Ctbs |
A |
G |
3: 146,160,867 (GRCm39) |
K145E |
probably benign |
Het |
Dennd5a |
A |
G |
7: 109,533,302 (GRCm39) |
M156T |
probably damaging |
Het |
Dhx29 |
A |
G |
13: 113,101,756 (GRCm39) |
Y1275C |
probably damaging |
Het |
Dpp10 |
A |
T |
1: 123,295,596 (GRCm39) |
F517Y |
probably benign |
Het |
Dst |
G |
A |
1: 34,227,990 (GRCm39) |
W1536* |
probably null |
Het |
Galc |
T |
C |
12: 98,218,340 (GRCm39) |
T171A |
possibly damaging |
Het |
Gsap |
T |
C |
5: 21,431,246 (GRCm39) |
I190T |
probably damaging |
Het |
Hars2 |
A |
T |
18: 36,922,630 (GRCm39) |
R388* |
probably null |
Het |
Igsf21 |
C |
T |
4: 139,834,675 (GRCm39) |
G66S |
possibly damaging |
Het |
Itgbl1 |
T |
A |
14: 124,065,211 (GRCm39) |
S122T |
possibly damaging |
Het |
Jhy |
G |
T |
9: 40,872,260 (GRCm39) |
T83K |
possibly damaging |
Het |
Kcne4 |
A |
T |
1: 78,795,525 (GRCm39) |
M58L |
possibly damaging |
Het |
Lamc3 |
T |
A |
2: 31,802,119 (GRCm39) |
I509N |
probably damaging |
Het |
Lpar6 |
T |
C |
14: 73,476,506 (GRCm39) |
S156P |
probably damaging |
Het |
Man2c1 |
T |
C |
9: 57,048,840 (GRCm39) |
|
probably benign |
Het |
Marchf11 |
T |
C |
15: 26,409,285 (GRCm39) |
I328T |
possibly damaging |
Het |
Mc3r |
T |
A |
2: 172,091,290 (GRCm39) |
C171S |
probably benign |
Het |
Muc4 |
A |
T |
16: 32,577,001 (GRCm39) |
Q2167L |
unknown |
Het |
Myom1 |
T |
C |
17: 71,406,988 (GRCm39) |
V1135A |
possibly damaging |
Het |
Nectin1 |
C |
T |
9: 43,702,555 (GRCm39) |
R101* |
probably null |
Het |
Nxpe4 |
T |
C |
9: 48,305,440 (GRCm39) |
S277P |
possibly damaging |
Het |
Or1e35 |
T |
C |
11: 73,798,303 (GRCm39) |
N5S |
probably damaging |
Het |
Or2a52 |
T |
A |
6: 43,144,637 (GRCm39) |
V215E |
probably damaging |
Het |
Or52r1c |
G |
A |
7: 102,735,582 (GRCm39) |
V281I |
probably benign |
Het |
Or5b106 |
T |
A |
19: 13,123,614 (GRCm39) |
K136N |
probably benign |
Het |
Or5w19 |
A |
C |
2: 87,698,488 (GRCm39) |
D51A |
probably damaging |
Het |
Pappa2 |
G |
T |
1: 158,684,948 (GRCm39) |
N730K |
probably damaging |
Het |
Prepl |
A |
G |
17: 85,373,709 (GRCm39) |
V586A |
probably damaging |
Het |
Prrc2a |
T |
C |
17: 35,368,529 (GRCm39) |
Y2098C |
probably damaging |
Het |
Rdh16 |
G |
A |
10: 127,637,176 (GRCm39) |
C37Y |
probably damaging |
Het |
Rnd1 |
A |
T |
15: 98,571,746 (GRCm39) |
M100K |
probably benign |
Het |
Sema3c |
A |
G |
5: 17,877,504 (GRCm39) |
N204D |
probably damaging |
Het |
Susd4 |
A |
G |
1: 182,686,026 (GRCm39) |
|
probably null |
Het |
Taar7f |
G |
T |
10: 23,926,239 (GRCm39) |
A278S |
possibly damaging |
Het |
Tle4 |
T |
A |
19: 14,522,178 (GRCm39) |
M122L |
probably benign |
Het |
Trim9 |
C |
T |
12: 70,295,125 (GRCm39) |
V662I |
probably benign |
Het |
Vmn2r10 |
C |
A |
5: 109,150,345 (GRCm39) |
C233F |
probably damaging |
Het |
Vmn2r98 |
A |
C |
17: 19,285,521 (GRCm39) |
T114P |
possibly damaging |
Het |
Zfyve21 |
C |
T |
12: 111,794,247 (GRCm39) |
|
probably benign |
Het |
Zng1 |
T |
C |
19: 24,918,140 (GRCm39) |
E210G |
possibly 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 |
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 |
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 |
2013-12-09 |