Incidental Mutation 'R1384:C9'
| ID |
163180 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C9
|
| Ensembl Gene |
ENSMUSG00000022149 |
| Gene Name |
complement component 9 |
| Synonyms |
|
| MMRRC Submission |
039446-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1384 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
6474808-6528232 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 6488415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 90
(V90I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022749]
|
| AlphaFold |
P06683 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022749
AA Change: V90I
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000022749
Gene: ENSMUSG00000022149
AA Change: V90I
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.1%
|
| Validation Efficiency |
96% (54/56) |
| 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 |
|---|
| 4930408O17Rik |
G |
A |
12: 104,837,451 (GRCm39) |
|
noncoding transcript |
Het |
| A930033H14Rik |
A |
G |
10: 69,048,191 (GRCm39) |
|
probably benign |
Het |
| Abcf3 |
G |
A |
16: 20,378,053 (GRCm39) |
G522R |
probably damaging |
Het |
| Abi3bp |
A |
G |
16: 56,394,862 (GRCm39) |
Y190C |
probably damaging |
Het |
| Alg10b |
A |
G |
15: 90,111,785 (GRCm39) |
K210E |
possibly damaging |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,022,709 (GRCm39) |
I634V |
probably benign |
Het |
| Catip |
A |
G |
1: 74,403,522 (GRCm39) |
D153G |
probably benign |
Het |
| Cpt1c |
G |
A |
7: 44,610,348 (GRCm39) |
|
probably benign |
Het |
| Cyp2c23 |
A |
G |
19: 44,002,102 (GRCm39) |
S296P |
probably damaging |
Het |
| Cyp2d41-ps |
G |
A |
15: 82,663,718 (GRCm39) |
|
noncoding transcript |
Het |
| Edc4 |
T |
A |
8: 106,619,014 (GRCm39) |
I1327N |
probably damaging |
Het |
| Fbxl18 |
G |
A |
5: 142,871,978 (GRCm39) |
A419V |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,391,652 (GRCm39) |
K509E |
possibly damaging |
Het |
| Golga4 |
A |
G |
9: 118,394,719 (GRCm39) |
E96G |
probably damaging |
Het |
| Grid2ip |
T |
G |
5: 143,371,851 (GRCm39) |
|
probably null |
Het |
| Gucy1a2 |
A |
C |
9: 3,759,620 (GRCm39) |
E475D |
probably damaging |
Het |
| Hipk1 |
A |
G |
3: 103,666,090 (GRCm39) |
|
probably benign |
Het |
| Ica1 |
G |
A |
6: 8,742,262 (GRCm39) |
Q124* |
probably null |
Het |
| Igsf3 |
T |
C |
3: 101,358,612 (GRCm39) |
|
probably null |
Het |
| Matn2 |
A |
G |
15: 34,409,956 (GRCm39) |
E462G |
probably benign |
Het |
| Men1 |
T |
C |
19: 6,389,921 (GRCm39) |
S464P |
probably benign |
Het |
| Mrgpra2b |
T |
A |
7: 47,113,742 (GRCm39) |
E330V |
probably damaging |
Het |
| Myoz2 |
A |
T |
3: 122,819,765 (GRCm39) |
S65T |
probably damaging |
Het |
| Nckap1 |
A |
G |
2: 80,364,014 (GRCm39) |
M492T |
possibly damaging |
Het |
| Nhsl1 |
A |
T |
10: 18,284,261 (GRCm39) |
K67N |
probably null |
Het |
| Nostrin |
A |
G |
2: 69,019,406 (GRCm39) |
R484G |
probably benign |
Het |
| Or8g22 |
T |
A |
9: 38,958,200 (GRCm39) |
I172F |
possibly damaging |
Het |
| Otog |
T |
A |
7: 45,923,119 (GRCm39) |
|
probably benign |
Het |
| P2rx5 |
A |
G |
11: 73,058,716 (GRCm39) |
Y300C |
probably damaging |
Het |
| Pars2 |
T |
C |
4: 106,510,913 (GRCm39) |
F232L |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,115,401 (GRCm39) |
|
probably benign |
Het |
| Pld3 |
A |
G |
7: 27,237,082 (GRCm39) |
S266P |
probably benign |
Het |
| Pole |
G |
A |
5: 110,471,530 (GRCm39) |
V1425M |
possibly damaging |
Het |
| Prss43 |
A |
G |
9: 110,656,510 (GRCm39) |
I66V |
probably benign |
Het |
| Rtn4 |
A |
T |
11: 29,686,437 (GRCm39) |
N264I |
probably damaging |
Het |
| Slc45a2 |
A |
G |
15: 11,025,832 (GRCm39) |
Y394C |
probably benign |
Het |
| Speer4f2 |
A |
T |
5: 17,579,447 (GRCm39) |
N82I |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Strip1 |
T |
C |
3: 107,534,155 (GRCm39) |
S160G |
probably benign |
Het |
| Tbx2 |
A |
G |
11: 85,724,318 (GRCm39) |
K129R |
probably benign |
Het |
| Tfr2 |
T |
C |
5: 137,585,082 (GRCm39) |
|
probably benign |
Het |
| Thap12 |
T |
C |
7: 98,352,645 (GRCm39) |
S17P |
probably damaging |
Het |
| Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
| Tspear |
T |
C |
10: 77,702,166 (GRCm39) |
F200L |
probably benign |
Het |
| Tspyl5 |
T |
A |
15: 33,687,526 (GRCm39) |
R140W |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,606,002 (GRCm39) |
D18236G |
probably damaging |
Het |
| Upf2 |
G |
A |
2: 5,965,800 (GRCm39) |
R140Q |
unknown |
Het |
| Vps4a |
T |
A |
8: 107,763,276 (GRCm39) |
I10N |
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 |
|
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 |
|
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 |
2014-03-17 |
Incidental Mutation