Incidental Mutation 'R0477:C9'
| ID |
41875 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C9
|
| Ensembl Gene |
ENSMUSG00000022149 |
| Gene Name |
complement component 9 |
| Synonyms |
|
| MMRRC Submission |
038677-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0477 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
15 |
| Chromosomal Location |
6474808-6528232 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 6487664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 43
(E43D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022749]
|
| AlphaFold |
P06683 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022749
AA Change: E43D
PolyPhen 2
Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000022749
Gene: ENSMUSG00000022149
AA Change: E43D
| 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: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.1%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
A |
T |
11: 117,693,787 (GRCm39) |
I85F |
probably benign |
Het |
| Abca8a |
T |
A |
11: 109,956,051 (GRCm39) |
I778L |
probably benign |
Het |
| Abcc5 |
T |
C |
16: 20,187,319 (GRCm39) |
N889S |
possibly damaging |
Het |
| Abcc5 |
T |
C |
16: 20,217,635 (GRCm39) |
N359D |
probably damaging |
Het |
| Adam23 |
A |
G |
1: 63,596,559 (GRCm39) |
|
probably benign |
Het |
| Adamts3 |
A |
T |
5: 89,832,366 (GRCm39) |
D913E |
probably benign |
Het |
| Ap1b1 |
G |
T |
11: 4,981,787 (GRCm39) |
C538F |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,890,766 (GRCm39) |
S882T |
probably benign |
Het |
| Cacna2d1 |
T |
C |
5: 16,399,796 (GRCm39) |
|
probably null |
Het |
| Ces2a |
A |
G |
8: 105,464,169 (GRCm39) |
E267G |
probably damaging |
Het |
| Cfap61 |
A |
G |
2: 145,781,836 (GRCm39) |
D23G |
probably damaging |
Het |
| Col9a3 |
T |
G |
2: 180,251,263 (GRCm39) |
|
probably benign |
Het |
| Cstl1 |
T |
C |
2: 148,592,908 (GRCm39) |
V21A |
probably benign |
Het |
| Cth |
A |
T |
3: 157,610,812 (GRCm39) |
L340Q |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,974,054 (GRCm39) |
M2813K |
probably damaging |
Het |
| Fam107a |
A |
T |
14: 8,301,168 (GRCm38) |
Y21N |
probably benign |
Het |
| Fam184a |
G |
A |
10: 53,531,175 (GRCm39) |
T733M |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,894,806 (GRCm39) |
V21A |
probably benign |
Het |
| Foxc2 |
A |
T |
8: 121,844,774 (GRCm39) |
Y474F |
probably damaging |
Het |
| Hnf4g |
G |
T |
3: 3,716,851 (GRCm39) |
|
probably benign |
Het |
| Hnrnpll |
T |
C |
17: 80,369,261 (GRCm39) |
D54G |
unknown |
Het |
| Hydin |
A |
G |
8: 111,145,130 (GRCm39) |
Y827C |
probably damaging |
Het |
| Il23r |
A |
G |
6: 67,429,361 (GRCm39) |
V327A |
probably benign |
Het |
| Itih4 |
T |
A |
14: 30,611,631 (GRCm39) |
V118D |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,751,462 (GRCm39) |
|
probably benign |
Het |
| Lamb1 |
A |
G |
12: 31,376,268 (GRCm39) |
D1546G |
possibly damaging |
Het |
| Large1 |
A |
T |
8: 73,544,710 (GRCm39) |
D689E |
probably damaging |
Het |
| Map1a |
T |
C |
2: 121,132,582 (GRCm39) |
S895P |
probably damaging |
Het |
| Mdn1 |
A |
C |
4: 32,750,928 (GRCm39) |
E4487A |
probably benign |
Het |
| Myo15a |
T |
C |
11: 60,411,740 (GRCm39) |
|
probably null |
Het |
| Nlrp4f |
C |
A |
13: 65,338,720 (GRCm39) |
R639L |
probably benign |
Het |
| Or4f52 |
A |
G |
2: 111,062,009 (GRCm39) |
F43S |
probably benign |
Het |
| Or8h10 |
T |
A |
2: 86,808,567 (GRCm39) |
D191V |
probably damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,125,114 (GRCm39) |
N229S |
probably damaging |
Het |
| Pcnx2 |
A |
G |
8: 126,488,306 (GRCm39) |
V1746A |
probably damaging |
Het |
| Phf12 |
A |
T |
11: 77,913,896 (GRCm39) |
H446L |
possibly damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,622,138 (GRCm39) |
|
probably null |
Het |
| Psmb9 |
A |
C |
17: 34,401,238 (GRCm39) |
V207G |
probably damaging |
Het |
| Ptprh |
C |
A |
7: 4,600,997 (GRCm39) |
D127Y |
possibly damaging |
Het |
| Rabep1 |
T |
G |
11: 70,811,733 (GRCm39) |
M535R |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Scin |
T |
C |
12: 40,110,515 (GRCm39) |
D711G |
probably damaging |
Het |
| Slfn4 |
T |
C |
11: 83,079,507 (GRCm39) |
I6T |
probably benign |
Het |
| Sos1 |
T |
A |
17: 80,742,363 (GRCm39) |
E388V |
possibly damaging |
Het |
| Spag5 |
A |
C |
11: 78,205,024 (GRCm39) |
Q603P |
probably damaging |
Het |
| Supv3l1 |
G |
T |
10: 62,266,364 (GRCm39) |
T604N |
probably damaging |
Het |
| Tbx5 |
A |
G |
5: 120,021,184 (GRCm39) |
S397G |
possibly damaging |
Het |
| Tmprss5 |
A |
G |
9: 49,026,465 (GRCm39) |
D383G |
possibly damaging |
Het |
| Trim43b |
A |
G |
9: 88,972,654 (GRCm39) |
W167R |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,609,160 (GRCm39) |
D1283V |
probably damaging |
Het |
| Upf1 |
A |
T |
8: 70,786,730 (GRCm39) |
V918D |
probably benign |
Het |
| Vmn2r100 |
A |
G |
17: 19,742,776 (GRCm39) |
I383M |
probably benign |
Het |
| Zc3h3 |
G |
T |
15: 75,648,932 (GRCm39) |
S733R |
possibly damaging |
Het |
| Zcchc2 |
C |
T |
1: 105,958,000 (GRCm39) |
P426S |
possibly damaging |
Het |
| Zkscan7 |
A |
G |
9: 122,719,874 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTGTTCAAGGGTCATGGAAGAC -3'
(R):5'- TCAGACCAACCACATTGTATTCCTTGC -3'
Sequencing Primer
(F):5'- acacacacagacacattcataaac -3'
(R):5'- AACCACATTGTATTCCTTGCTTACC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation