Incidental Mutation 'R0792:C9'
ID |
82477 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
C9
|
Ensembl Gene |
ENSMUSG00000022149 |
Gene Name |
complement component 9 |
Synonyms |
|
MMRRC Submission |
038972-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0792 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
6474808-6528232 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 6516243 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 349
(F349I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022749
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022749]
|
AlphaFold |
P06683 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022749
AA Change: F349I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000022749 Gene: ENSMUSG00000022149 AA Change: F349I
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: 99.7%
- 3x: 99.1%
- 10x: 97.6%
- 20x: 95.1%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl5 |
T |
C |
19: 55,268,924 (GRCm39) |
V195A |
probably benign |
Het |
Adgrb1 |
A |
G |
15: 74,452,466 (GRCm39) |
M211V |
probably damaging |
Het |
Ahnak |
G |
T |
19: 8,994,098 (GRCm39) |
M5127I |
probably benign |
Het |
Akr1c13 |
T |
C |
13: 4,244,111 (GRCm39) |
Y55H |
probably damaging |
Het |
Ap3d1 |
A |
T |
10: 80,544,313 (GRCm39) |
H1161Q |
probably benign |
Het |
Armh3 |
A |
T |
19: 45,922,307 (GRCm39) |
|
probably null |
Het |
Atp2b2 |
C |
T |
6: 113,750,349 (GRCm39) |
R625H |
probably damaging |
Het |
Bdnf |
G |
A |
2: 109,554,463 (GRCm39) |
C239Y |
probably damaging |
Het |
Bpifa5 |
G |
T |
2: 154,007,539 (GRCm39) |
|
probably null |
Het |
Ccdc180 |
T |
C |
4: 45,927,975 (GRCm39) |
V1170A |
possibly damaging |
Het |
Celsr1 |
A |
G |
15: 85,815,477 (GRCm39) |
V1846A |
probably benign |
Het |
Cep68 |
A |
T |
11: 20,190,652 (GRCm39) |
L120H |
possibly damaging |
Het |
Cntrl |
T |
A |
2: 35,045,291 (GRCm39) |
I781K |
possibly damaging |
Het |
Cpne1 |
G |
T |
2: 155,919,339 (GRCm39) |
Q343K |
probably benign |
Het |
Dlc1 |
A |
T |
8: 37,405,702 (GRCm39) |
I29K |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,786,827 (GRCm39) |
D3602G |
possibly damaging |
Het |
Dock1 |
A |
G |
7: 134,475,879 (GRCm39) |
S885G |
probably benign |
Het |
Evpl |
T |
A |
11: 116,118,549 (GRCm39) |
Q686L |
probably damaging |
Het |
Fmo6 |
C |
T |
1: 162,748,132 (GRCm39) |
A311T |
probably damaging |
Het |
Gli1 |
A |
T |
10: 127,168,446 (GRCm39) |
M469K |
probably damaging |
Het |
Grin2c |
G |
A |
11: 115,141,472 (GRCm39) |
P882L |
probably damaging |
Het |
H2-Ob |
C |
T |
17: 34,461,588 (GRCm39) |
T109I |
probably damaging |
Het |
Jpt2 |
C |
A |
17: 25,167,647 (GRCm39) |
A101S |
probably benign |
Het |
Krt1c |
A |
G |
15: 101,724,932 (GRCm39) |
V226A |
probably damaging |
Het |
Lamc1 |
T |
G |
1: 153,110,341 (GRCm39) |
Q1111H |
probably damaging |
Het |
Lamc1 |
T |
C |
1: 153,110,358 (GRCm39) |
S1106G |
probably benign |
Het |
Lamc1 |
C |
A |
1: 153,110,326 (GRCm39) |
Q1116H |
possibly damaging |
Het |
Lrp1 |
G |
T |
10: 127,403,233 (GRCm39) |
D2113E |
probably damaging |
Het |
Lrp1 |
A |
T |
10: 127,411,155 (GRCm39) |
D1399E |
probably benign |
Het |
Ltbp4 |
G |
T |
7: 27,024,485 (GRCm39) |
P715Q |
probably damaging |
Het |
Mtor |
T |
C |
4: 148,547,367 (GRCm39) |
V450A |
probably benign |
Het |
Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
Myom1 |
A |
T |
17: 71,428,131 (GRCm39) |
I1450F |
probably damaging |
Het |
Naip6 |
A |
G |
13: 100,420,274 (GRCm39) |
I1332T |
possibly damaging |
Het |
Ncstn |
A |
G |
1: 171,899,072 (GRCm39) |
V353A |
possibly damaging |
Het |
Nt5c3 |
T |
C |
6: 56,863,734 (GRCm39) |
T149A |
probably benign |
Het |
Or5ac21 |
A |
T |
16: 59,124,352 (GRCm39) |
I280F |
probably damaging |
Het |
Or5p81 |
A |
G |
7: 108,267,364 (GRCm39) |
H247R |
probably damaging |
Het |
Paip1 |
T |
C |
13: 119,566,854 (GRCm39) |
S54P |
possibly damaging |
Het |
Prdm14 |
G |
T |
1: 13,195,968 (GRCm39) |
A31E |
probably benign |
Het |
Prr14l |
A |
G |
5: 32,985,767 (GRCm39) |
S1243P |
probably damaging |
Het |
Prss1 |
T |
C |
6: 41,435,878 (GRCm39) |
M1T |
probably null |
Het |
Raver2 |
T |
A |
4: 100,960,147 (GRCm39) |
V209D |
probably damaging |
Het |
Scube1 |
T |
A |
15: 83,512,277 (GRCm39) |
|
probably null |
Het |
Serpina3c |
T |
A |
12: 104,117,805 (GRCm39) |
I178F |
probably damaging |
Het |
Slc16a13 |
A |
T |
11: 70,111,457 (GRCm39) |
V16E |
probably damaging |
Het |
Slc30a6 |
T |
C |
17: 74,722,640 (GRCm39) |
S236P |
possibly damaging |
Het |
Sobp |
A |
C |
10: 42,898,689 (GRCm39) |
S299A |
probably damaging |
Het |
Sorcs3 |
C |
A |
19: 48,694,448 (GRCm39) |
T574K |
possibly damaging |
Het |
Trak2 |
A |
T |
1: 58,942,820 (GRCm39) |
M862K |
probably benign |
Het |
Ubox5 |
A |
T |
2: 130,442,630 (GRCm39) |
V19E |
probably damaging |
Het |
Vmn1r173 |
A |
G |
7: 23,402,160 (GRCm39) |
T132A |
probably benign |
Het |
Zfp267 |
A |
G |
3: 36,218,711 (GRCm39) |
M244V |
probably benign |
Het |
Zfp820 |
T |
C |
17: 22,038,509 (GRCm39) |
D273G |
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 |
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'- GCAGTCACTGCTTGTCAAGATAGCAT -3'
(R):5'- GGCAACATTTAGAGCAATTTGTTCCCA -3'
Sequencing Primer
(F):5'- CTGCTTGTCAAGATAGCATGATTTG -3'
(R):5'- ACTGTTAGATGCTGAAGGGC -3'
|
Posted On |
2013-11-08 |