Incidental Mutation 'R1281:C9'
ID |
151034 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
C9
|
Ensembl Gene |
ENSMUSG00000022149 |
Gene Name |
complement component 9 |
Synonyms |
|
MMRRC Submission |
039347-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1281 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
6474808-6528232 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 6519321 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 386
(N386I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022749
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022749]
|
AlphaFold |
P06683 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022749
AA Change: N386I
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000022749 Gene: ENSMUSG00000022149 AA Change: N386I
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
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aim2 |
A |
T |
1: 173,287,377 (GRCm39) |
K126* |
probably null |
Het |
Csnk1e |
A |
C |
15: 79,304,841 (GRCm39) |
N387K |
possibly damaging |
Het |
Cul9 |
T |
C |
17: 46,822,460 (GRCm39) |
T1758A |
probably damaging |
Het |
Dcaf17 |
A |
G |
2: 70,908,500 (GRCm39) |
I256V |
probably damaging |
Het |
Duox1 |
G |
A |
2: 122,157,569 (GRCm39) |
C565Y |
probably damaging |
Het |
Fchsd2 |
A |
G |
7: 100,902,759 (GRCm39) |
H379R |
possibly damaging |
Het |
Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
Krt1c |
C |
A |
15: 101,721,727 (GRCm39) |
C438F |
probably damaging |
Het |
Mast4 |
G |
A |
13: 102,887,086 (GRCm39) |
T1001I |
probably damaging |
Het |
Mrc1 |
T |
C |
2: 14,298,321 (GRCm39) |
F726L |
probably damaging |
Het |
Mroh2a |
T |
TN |
1: 88,183,889 (GRCm39) |
|
probably null |
Het |
Mttp |
T |
C |
3: 137,812,980 (GRCm39) |
N550S |
possibly damaging |
Het |
Necap1 |
G |
T |
6: 122,851,573 (GRCm39) |
D16Y |
possibly damaging |
Het |
Nox3 |
A |
T |
17: 3,746,460 (GRCm39) |
I26N |
probably damaging |
Het |
Patj |
T |
C |
4: 98,304,932 (GRCm39) |
I262T |
probably damaging |
Het |
Pcdh8 |
T |
C |
14: 80,005,166 (GRCm39) |
E953G |
probably damaging |
Het |
Pirb |
A |
T |
7: 3,720,189 (GRCm39) |
C395S |
probably damaging |
Het |
Sacs |
A |
G |
14: 61,429,250 (GRCm39) |
I433M |
probably benign |
Het |
Sclt1 |
A |
G |
3: 41,602,055 (GRCm39) |
F552L |
probably benign |
Het |
Smc5 |
T |
C |
19: 23,213,247 (GRCm39) |
N479S |
probably benign |
Het |
Tg |
G |
A |
15: 66,568,338 (GRCm39) |
V1342I |
probably benign |
Het |
Ube2n |
C |
A |
10: 95,377,618 (GRCm39) |
N132K |
probably benign |
Het |
Vmn2r55 |
A |
T |
7: 12,404,825 (GRCm39) |
C193S |
probably benign |
Het |
Zc3hav1 |
A |
G |
6: 38,330,872 (GRCm39) |
C96R |
probably damaging |
Het |
Zfp60 |
T |
A |
7: 27,437,852 (GRCm39) |
V53E |
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 |
|
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'- AGCAGGTGGTAAATATGTCCTTCGC -3'
(R):5'- AGTGTTGATTACGTCACGAGAGCC -3'
Sequencing Primer
(F):5'- TCGCTACTAAGTTGGCAAGC -3'
(R):5'- GTCACGAGAGCCAATACTCTTAG -3'
|
Posted On |
2014-01-29 |