Incidental Mutation 'R5723:C9'
| ID |
452348 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C9
|
| Ensembl Gene |
ENSMUSG00000022149 |
| Gene Name |
complement component 9 |
| Synonyms |
|
| MMRRC Submission |
043341-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5723 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
6474808-6528232 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 6516297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 367
(Y367N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022749]
|
| AlphaFold |
P06683 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022749
AA Change: Y367N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022749
Gene: ENSMUSG00000022149
AA Change: Y367N
| 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 |
noncoding transcript
Transcript: ENSMUST00000127196
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147905
|
| Meta Mutation Damage Score |
0.8558 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
98% (57/58) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
C |
11: 109,844,445 (GRCm39) |
D862G |
possibly damaging |
Het |
| Abcg2 |
C |
T |
6: 58,655,336 (GRCm39) |
Q109* |
probably null |
Het |
| Acbd7 |
A |
G |
2: 3,341,455 (GRCm39) |
Y33C |
probably damaging |
Het |
| Actl7a |
A |
G |
4: 56,744,310 (GRCm39) |
D279G |
probably damaging |
Het |
| Akr1c18 |
A |
T |
13: 4,194,328 (GRCm39) |
Y110* |
probably null |
Het |
| Akt1 |
T |
C |
12: 112,623,704 (GRCm39) |
K276E |
probably damaging |
Het |
| Bcas2 |
A |
G |
3: 103,084,608 (GRCm39) |
|
probably benign |
Het |
| Cd163 |
A |
G |
6: 124,296,022 (GRCm39) |
T789A |
probably benign |
Het |
| Cers6 |
T |
A |
2: 68,938,789 (GRCm39) |
S344T |
probably benign |
Het |
| Clcn4 |
A |
G |
7: 7,294,681 (GRCm39) |
V329A |
probably damaging |
Het |
| Crisp3 |
A |
C |
17: 40,546,804 (GRCm39) |
V38G |
probably damaging |
Het |
| Cyp2b23 |
A |
G |
7: 26,380,821 (GRCm39) |
F135L |
probably benign |
Het |
| Cyrib |
A |
T |
15: 63,828,447 (GRCm39) |
|
probably null |
Het |
| Ddr2 |
A |
T |
1: 169,816,089 (GRCm39) |
C539* |
probably null |
Het |
| Efna5 |
T |
A |
17: 62,914,458 (GRCm39) |
D189V |
probably damaging |
Het |
| Endov |
G |
T |
11: 119,390,675 (GRCm39) |
V70F |
probably damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Frem3 |
A |
T |
8: 81,340,026 (GRCm39) |
H773L |
probably benign |
Het |
| Gm43302 |
T |
A |
5: 105,365,352 (GRCm39) |
Q552L |
possibly damaging |
Het |
| Gramd1a |
A |
T |
7: 30,833,908 (GRCm39) |
W506R |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,570,600 (GRCm39) |
V2188I |
possibly damaging |
Het |
| Ifit1bl2 |
A |
G |
19: 34,597,458 (GRCm39) |
F53L |
probably benign |
Het |
| Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
| Kif5a |
GGGTTGGT |
GGGT |
10: 127,066,898 (GRCm39) |
|
probably null |
Het |
| Krt16 |
A |
G |
11: 100,139,272 (GRCm39) |
Y149H |
probably damaging |
Het |
| Krtap5-2 |
A |
T |
7: 141,728,742 (GRCm39) |
C313S |
unknown |
Het |
| Mreg |
A |
G |
1: 72,201,527 (GRCm39) |
I155T |
probably damaging |
Het |
| Nans |
T |
C |
4: 46,499,083 (GRCm39) |
F130S |
probably benign |
Het |
| Nox4 |
T |
C |
7: 86,954,181 (GRCm39) |
|
probably benign |
Het |
| Or3a1d |
C |
A |
11: 74,237,954 (GRCm39) |
W32L |
possibly damaging |
Het |
| Or52ad1 |
A |
T |
7: 102,995,826 (GRCm39) |
M103K |
possibly damaging |
Het |
| Or56a3 |
C |
A |
7: 104,740,309 (GRCm39) |
C179F |
probably damaging |
Het |
| Or5k15 |
A |
T |
16: 58,709,976 (GRCm39) |
Y202* |
probably null |
Het |
| Pgap6 |
CGGGG |
CGGGGG |
17: 26,339,536 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
A |
G |
17: 24,784,497 (GRCm39) |
T348A |
probably benign |
Het |
| Poteg |
T |
C |
8: 27,940,020 (GRCm39) |
|
probably null |
Het |
| Prom1 |
T |
G |
5: 44,172,236 (GRCm39) |
N585T |
probably benign |
Het |
| Rfc1 |
T |
C |
5: 65,434,769 (GRCm39) |
S666G |
probably null |
Het |
| Rilp |
A |
G |
11: 75,403,687 (GRCm39) |
|
probably benign |
Het |
| Serpina3i |
A |
G |
12: 104,231,759 (GRCm39) |
E132G |
probably benign |
Het |
| Serpina3m |
T |
C |
12: 104,360,170 (GRCm39) |
V414A |
probably damaging |
Het |
| Sfrp4 |
T |
C |
13: 19,807,868 (GRCm39) |
F89S |
probably damaging |
Het |
| Stat5a |
A |
G |
11: 100,772,900 (GRCm39) |
H692R |
probably benign |
Het |
| Tex29 |
A |
T |
8: 11,904,279 (GRCm39) |
|
probably benign |
Het |
| Tmc5 |
T |
A |
7: 118,271,416 (GRCm39) |
F910I |
probably damaging |
Het |
| Tusc3 |
G |
A |
8: 39,538,651 (GRCm39) |
G230D |
possibly damaging |
Het |
| Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
| Upb1 |
A |
T |
10: 75,264,105 (GRCm39) |
I184F |
probably damaging |
Het |
| Vamp4 |
T |
C |
1: 162,401,932 (GRCm39) |
F5L |
possibly damaging |
Het |
| Zfp583 |
C |
A |
7: 6,326,674 (GRCm39) |
Q68H |
probably damaging |
Het |
| Zfp831 |
A |
C |
2: 174,487,200 (GRCm39) |
H625P |
probably benign |
Het |
| Zfp941 |
G |
A |
7: 140,392,763 (GRCm39) |
|
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 |
|
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 |
|
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'- CACTGCTTGTCAAGATAGCATG -3'
(R):5'- TGTTAGATGCTGAAGGGCAG -3'
Sequencing Primer
(F):5'- CTGCTTGTCAAGATAGCATGATTTG -3'
(R):5'- CTGAAGGGCAGAAAAGAATTCTTTC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation