Incidental Mutation 'R0881:C9'
| ID |
80570 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C9
|
| Ensembl Gene |
ENSMUSG00000022149 |
| Gene Name |
complement component 9 |
| Synonyms |
|
| MMRRC Submission |
039048-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0881 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
6474808-6528232 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 6488349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022749]
|
| AlphaFold |
P06683 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022749
|
| SMART Domains |
Protein: ENSMUSP00000022749
Gene: ENSMUSG00000022149
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 93.0%
|
| Validation Efficiency |
96% (51/53) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
| Abcc9 |
T |
A |
6: 142,592,029 (GRCm39) |
I732F |
probably damaging |
Het |
| Adam10 |
T |
C |
9: 70,653,519 (GRCm39) |
S248P |
probably damaging |
Het |
| Adam18 |
A |
T |
8: 25,162,159 (GRCm39) |
|
probably benign |
Het |
| Angel2 |
G |
A |
1: 190,669,661 (GRCm39) |
E114K |
probably damaging |
Het |
| Arhgap29 |
A |
G |
3: 121,808,328 (GRCm39) |
T1169A |
probably damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,731,242 (GRCm39) |
M759K |
probably damaging |
Het |
| Atxn2l |
A |
G |
7: 126,095,768 (GRCm39) |
S450P |
probably damaging |
Het |
| B3glct |
T |
A |
5: 149,663,034 (GRCm39) |
V264E |
probably damaging |
Het |
| Bbx |
A |
G |
16: 50,040,963 (GRCm39) |
|
probably benign |
Het |
| Bmp3 |
A |
G |
5: 99,020,461 (GRCm39) |
N295D |
possibly damaging |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Cdan1 |
A |
T |
2: 120,551,466 (GRCm39) |
V1039E |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,758,665 (GRCm39) |
|
probably null |
Het |
| Ext1 |
A |
G |
15: 53,207,879 (GRCm39) |
L294P |
probably benign |
Het |
| Fsip2 |
C |
A |
2: 82,816,617 (GRCm39) |
H4117N |
possibly damaging |
Het |
| Itga8 |
C |
T |
2: 12,267,003 (GRCm39) |
|
probably null |
Het |
| Itln1 |
G |
T |
1: 171,360,949 (GRCm39) |
H48N |
probably benign |
Het |
| Kcna5 |
T |
A |
6: 126,511,957 (GRCm39) |
H57L |
probably benign |
Het |
| Klhdc4 |
A |
T |
8: 122,526,226 (GRCm39) |
Y304* |
probably null |
Het |
| Klhl25 |
A |
G |
7: 75,516,027 (GRCm39) |
Y6C |
probably damaging |
Het |
| Lars1 |
C |
T |
18: 42,347,851 (GRCm39) |
V991M |
probably benign |
Het |
| Med20 |
T |
C |
17: 47,922,605 (GRCm39) |
M1T |
probably null |
Het |
| Mslnl |
A |
T |
17: 25,961,939 (GRCm39) |
H138L |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,457,449 (GRCm39) |
I1583V |
probably benign |
Het |
| Nipbl |
A |
C |
15: 8,337,096 (GRCm39) |
V2093G |
probably damaging |
Het |
| Nup98 |
T |
A |
7: 101,809,923 (GRCm39) |
T536S |
probably damaging |
Het |
| Opalin |
T |
C |
19: 41,052,420 (GRCm39) |
|
probably null |
Het |
| Or1j12 |
T |
G |
2: 36,343,452 (GRCm39) |
L285R |
probably damaging |
Het |
| Or51d1 |
T |
A |
7: 102,348,291 (GRCm39) |
V282D |
possibly damaging |
Het |
| Or8g26 |
A |
G |
9: 39,095,984 (GRCm39) |
K170R |
probably benign |
Het |
| Pgm2 |
A |
T |
5: 64,250,351 (GRCm39) |
T9S |
unknown |
Het |
| Piwil2 |
A |
C |
14: 70,646,376 (GRCm39) |
S387A |
probably benign |
Het |
| Polr1c |
T |
C |
17: 46,555,539 (GRCm39) |
T240A |
possibly damaging |
Het |
| Polr3c |
A |
G |
3: 96,631,163 (GRCm39) |
M118T |
probably damaging |
Het |
| Pth1r |
C |
T |
9: 110,560,641 (GRCm39) |
C42Y |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rictor |
A |
T |
15: 6,821,151 (GRCm39) |
M1492L |
probably benign |
Het |
| Rrbp1 |
T |
A |
2: 143,795,173 (GRCm39) |
Y1277F |
probably benign |
Het |
| Scgb3a2 |
T |
G |
18: 43,897,549 (GRCm39) |
|
probably benign |
Het |
| Skint1 |
G |
A |
4: 111,886,054 (GRCm39) |
S327N |
probably benign |
Het |
| Steap4 |
A |
T |
5: 8,030,388 (GRCm39) |
S415C |
probably benign |
Het |
| Tex48 |
A |
G |
4: 63,530,228 (GRCm39) |
|
probably benign |
Het |
| Tox2 |
T |
A |
2: 163,163,365 (GRCm39) |
S502T |
probably benign |
Het |
| Usp47 |
T |
A |
7: 111,690,643 (GRCm39) |
I762K |
possibly damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,334,859 (GRCm39) |
H267R |
probably benign |
Het |
| Wnt2b |
A |
G |
3: 104,860,513 (GRCm39) |
|
probably benign |
Het |
| Xirp1 |
T |
C |
9: 119,847,483 (GRCm39) |
N28D |
possibly damaging |
Het |
| Zeb1 |
T |
C |
18: 5,767,138 (GRCm39) |
S550P |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACCTGCATGTTGAACAGCAGAC -3'
(R):5'- AGCCCTTGTTGAGGAGCCATTG -3'
Sequencing Primer
(F):5'- tcacctgagaccatcagaaaac -3'
(R):5'- AGGAGCCATTGCACTTGG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation