Incidental Mutation 'IGL01326:C8a'
ID |
74277 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
C8a
|
Ensembl Gene |
ENSMUSG00000035031 |
Gene Name |
complement component 8, alpha polypeptide |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01326
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
104672876-104733595 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 104713617 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 171
(Y171C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102420
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048947]
[ENSMUST00000064873]
[ENSMUST00000106808]
[ENSMUST00000179793]
|
AlphaFold |
Q8K182 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048947
AA Change: Y215C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000047606 Gene: ENSMUSG00000035031 AA Change: Y215C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
TSP1
|
41 |
91 |
1.33e-1 |
SMART |
LDLa
|
95 |
132 |
2.07e-11 |
SMART |
MACPF
|
288 |
492 |
5.26e-58 |
SMART |
Blast:EGF
|
496 |
529 |
3e-13 |
BLAST |
Blast:TSP1
|
545 |
573 |
3e-12 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064873
AA Change: Y215C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000067541 Gene: ENSMUSG00000035031 AA Change: Y215C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
TSP1
|
41 |
91 |
1.33e-1 |
SMART |
LDLa
|
95 |
132 |
2.07e-11 |
SMART |
MACPF
|
288 |
492 |
5.26e-58 |
SMART |
Blast:EGF
|
496 |
529 |
4e-13 |
BLAST |
TSP1
|
545 |
587 |
1.86e-1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106808
AA Change: Y171C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102420 Gene: ENSMUSG00000035031 AA Change: Y171C
Domain | Start | End | E-Value | Type |
Blast:TSP1
|
4 |
47 |
3e-15 |
BLAST |
LDLa
|
51 |
88 |
2.07e-11 |
SMART |
MACPF
|
244 |
448 |
5.26e-58 |
SMART |
Blast:EGF
|
452 |
485 |
4e-13 |
BLAST |
Blast:TSP1
|
501 |
543 |
3e-22 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152146
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179793
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes the alpha subunit of complement component C8 that participates in the assembly of the complement membrane attack complex. The encoded preproprotein undergoes proteolytic processing to generate the alpha subunit, which associates with the beta and gamma subunits to form a trimeric complement component, C8. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. This gene is located adjacent to the gene encoding the beta subunit. [provided by RefSeq, Oct 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh1 |
G |
A |
3: 137,992,672 (GRCm39) |
V263M |
probably damaging |
Het |
Akap13 |
T |
A |
7: 75,375,096 (GRCm39) |
H1909Q |
probably benign |
Het |
Atg2b |
C |
T |
12: 105,588,403 (GRCm39) |
A1936T |
probably damaging |
Het |
Atp8b3 |
G |
T |
10: 80,360,210 (GRCm39) |
L954M |
probably damaging |
Het |
Cd6 |
A |
G |
19: 10,768,466 (GRCm39) |
S508P |
probably benign |
Het |
Cdk4 |
A |
G |
10: 126,900,492 (GRCm39) |
D86G |
possibly damaging |
Het |
Cdr2l |
G |
T |
11: 115,281,796 (GRCm39) |
R100S |
probably benign |
Het |
Cndp1 |
T |
A |
18: 84,640,357 (GRCm39) |
T283S |
probably benign |
Het |
Cr2 |
T |
C |
1: 194,823,529 (GRCm39) |
Y1023C |
probably null |
Het |
Csmd3 |
A |
G |
15: 47,713,181 (GRCm39) |
F1494L |
probably benign |
Het |
Eeig2 |
A |
G |
3: 108,887,101 (GRCm39) |
V299A |
possibly damaging |
Het |
Eng |
G |
T |
2: 32,562,394 (GRCm39) |
G231W |
probably benign |
Het |
Erp44 |
A |
G |
4: 48,218,126 (GRCm39) |
V181A |
probably benign |
Het |
Fkbp15 |
A |
G |
4: 62,241,487 (GRCm39) |
S553P |
probably damaging |
Het |
Glg1 |
A |
G |
8: 111,909,205 (GRCm39) |
V495A |
probably damaging |
Het |
Gm9631 |
A |
T |
11: 121,836,454 (GRCm39) |
D28E |
possibly damaging |
Het |
Gnptab |
G |
T |
10: 88,268,927 (GRCm39) |
L543F |
probably damaging |
Het |
H4c3 |
A |
T |
13: 23,882,353 (GRCm39) |
I27N |
probably damaging |
Het |
Khdrbs2 |
T |
G |
1: 32,696,558 (GRCm39) |
L329R |
possibly damaging |
Het |
Kidins220 |
C |
A |
12: 25,088,498 (GRCm39) |
H1080Q |
probably damaging |
Het |
Maml1 |
G |
A |
11: 50,156,715 (GRCm39) |
P487S |
probably benign |
Het |
Me1 |
C |
T |
9: 86,480,771 (GRCm39) |
|
probably null |
Het |
Morc2a |
C |
T |
11: 3,631,775 (GRCm39) |
R569C |
probably benign |
Het |
Mrc1 |
A |
G |
2: 14,271,335 (GRCm39) |
Q413R |
probably damaging |
Het |
Mrgprx1 |
A |
T |
7: 47,671,517 (GRCm39) |
C77S |
probably benign |
Het |
Mtarc2 |
T |
C |
1: 184,566,048 (GRCm39) |
|
probably benign |
Het |
Myo1d |
A |
T |
11: 80,575,147 (GRCm39) |
|
probably benign |
Het |
Nr4a1 |
T |
G |
15: 101,171,940 (GRCm39) |
L538R |
probably damaging |
Het |
Olfm1 |
T |
C |
2: 28,119,564 (GRCm39) |
Y385H |
probably damaging |
Het |
Or4a39 |
A |
T |
2: 89,236,675 (GRCm39) |
F249L |
possibly damaging |
Het |
Or5m9 |
A |
G |
2: 85,877,627 (GRCm39) |
E267G |
probably damaging |
Het |
Pkd1 |
T |
A |
17: 24,795,148 (GRCm39) |
Y2278* |
probably null |
Het |
Plcg2 |
T |
C |
8: 118,300,738 (GRCm39) |
|
probably benign |
Het |
Prkdc |
G |
T |
16: 15,647,556 (GRCm39) |
C3660F |
probably benign |
Het |
Ptpn11 |
T |
C |
5: 121,281,199 (GRCm39) |
D493G |
probably damaging |
Het |
Rad23b |
T |
A |
4: 55,383,601 (GRCm39) |
F278I |
possibly damaging |
Het |
Saxo2 |
T |
C |
7: 82,297,613 (GRCm39) |
I9V |
probably benign |
Het |
Scn7a |
T |
C |
2: 66,582,604 (GRCm39) |
I98V |
probably benign |
Het |
Serac1 |
T |
A |
17: 6,124,528 (GRCm39) |
|
probably benign |
Het |
Simc1 |
T |
C |
13: 54,672,473 (GRCm39) |
C274R |
probably benign |
Het |
Sirt3 |
A |
G |
7: 140,444,006 (GRCm39) |
|
probably benign |
Het |
Tctn3 |
A |
G |
19: 40,585,880 (GRCm39) |
L555P |
probably damaging |
Het |
Ttc14 |
A |
G |
3: 33,855,507 (GRCm39) |
I151V |
probably benign |
Het |
Ush2a |
T |
A |
1: 187,995,518 (GRCm39) |
Y96* |
probably null |
Het |
Usp42 |
T |
C |
5: 143,706,970 (GRCm39) |
T270A |
possibly damaging |
Het |
Vmn1r31 |
A |
G |
6: 58,449,784 (GRCm39) |
I27T |
probably benign |
Het |
Vmn2r93 |
G |
A |
17: 18,536,906 (GRCm39) |
A530T |
possibly damaging |
Het |
|
Other mutations in C8a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00561:C8a
|
APN |
4 |
104,722,642 (GRCm39) |
intron |
probably benign |
|
IGL01339:C8a
|
APN |
4 |
104,685,182 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01809:C8a
|
APN |
4 |
104,703,139 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01843:C8a
|
APN |
4 |
104,719,808 (GRCm39) |
nonsense |
probably null |
|
IGL01988:C8a
|
APN |
4 |
104,683,891 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02187:C8a
|
APN |
4 |
104,719,933 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02430:C8a
|
APN |
4 |
104,674,719 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02537:C8a
|
APN |
4 |
104,703,148 (GRCm39) |
missense |
probably damaging |
1.00 |
derogation
|
UTSW |
4 |
104,685,275 (GRCm39) |
missense |
possibly damaging |
0.50 |
insult
|
UTSW |
4 |
104,685,236 (GRCm39) |
missense |
probably benign |
0.00 |
R0045:C8a
|
UTSW |
4 |
104,684,012 (GRCm39) |
missense |
probably benign |
0.00 |
R0045:C8a
|
UTSW |
4 |
104,684,012 (GRCm39) |
missense |
probably benign |
0.00 |
R0367:C8a
|
UTSW |
4 |
104,719,791 (GRCm39) |
critical splice donor site |
probably null |
|
R0632:C8a
|
UTSW |
4 |
104,713,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R1013:C8a
|
UTSW |
4 |
104,685,236 (GRCm39) |
missense |
probably benign |
0.00 |
R1442:C8a
|
UTSW |
4 |
104,685,275 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1902:C8a
|
UTSW |
4 |
104,713,798 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2969:C8a
|
UTSW |
4 |
104,710,974 (GRCm39) |
missense |
probably damaging |
0.97 |
R3735:C8a
|
UTSW |
4 |
104,674,812 (GRCm39) |
missense |
probably benign |
0.43 |
R3736:C8a
|
UTSW |
4 |
104,674,812 (GRCm39) |
missense |
probably benign |
0.43 |
R4245:C8a
|
UTSW |
4 |
104,733,543 (GRCm39) |
missense |
probably benign |
0.00 |
R4707:C8a
|
UTSW |
4 |
104,713,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R4812:C8a
|
UTSW |
4 |
104,719,788 (GRCm39) |
splice site |
probably null |
|
R5221:C8a
|
UTSW |
4 |
104,703,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R5279:C8a
|
UTSW |
4 |
104,703,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R5461:C8a
|
UTSW |
4 |
104,673,042 (GRCm39) |
utr 3 prime |
probably benign |
|
R5881:C8a
|
UTSW |
4 |
104,711,129 (GRCm39) |
missense |
probably damaging |
0.99 |
R6039:C8a
|
UTSW |
4 |
104,703,139 (GRCm39) |
missense |
probably benign |
0.00 |
R6039:C8a
|
UTSW |
4 |
104,703,139 (GRCm39) |
missense |
probably benign |
0.00 |
R6191:C8a
|
UTSW |
4 |
104,703,100 (GRCm39) |
missense |
probably benign |
0.00 |
R6626:C8a
|
UTSW |
4 |
104,703,164 (GRCm39) |
missense |
probably benign |
0.01 |
R7438:C8a
|
UTSW |
4 |
104,718,626 (GRCm39) |
missense |
probably damaging |
0.97 |
R7471:C8a
|
UTSW |
4 |
104,674,822 (GRCm39) |
missense |
probably benign |
0.01 |
R7514:C8a
|
UTSW |
4 |
104,703,247 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7596:C8a
|
UTSW |
4 |
104,711,064 (GRCm39) |
missense |
possibly damaging |
0.49 |
R8947:C8a
|
UTSW |
4 |
104,679,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R9039:C8a
|
UTSW |
4 |
104,679,200 (GRCm39) |
missense |
probably benign |
|
R9248:C8a
|
UTSW |
4 |
104,703,199 (GRCm39) |
missense |
probably damaging |
1.00 |
X0012:C8a
|
UTSW |
4 |
104,683,979 (GRCm39) |
missense |
probably damaging |
1.00 |
X0019:C8a
|
UTSW |
4 |
104,674,783 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:C8a
|
UTSW |
4 |
104,719,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-10-07 |