Incidental Mutation 'R5881:C8a'
| ID |
454406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C8a
|
| Ensembl Gene |
ENSMUSG00000035031 |
| Gene Name |
complement component 8, alpha polypeptide |
| Synonyms |
|
| MMRRC Submission |
044085-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5881 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
104672876-104733595 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 104711129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 178
(D178V)
|
| 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: D222V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000047606
Gene: ENSMUSG00000035031
AA Change: D222V
| 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: D222V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000067541
Gene: ENSMUSG00000035031
AA Change: D222V
| 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: D178V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102420
Gene: ENSMUSG00000035031
AA Change: D178V
| 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 |
- 1x: 99.9%
- 3x: 99.3%
- 10x: 94.5%
- 20x: 78.4%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3 |
A |
C |
11: 95,725,213 (GRCm39) |
L159W |
probably damaging |
Het |
| Abi3 |
A |
T |
11: 95,725,214 (GRCm39) |
L159M |
probably damaging |
Het |
| Adam11 |
A |
C |
11: 102,664,636 (GRCm39) |
I406L |
probably benign |
Het |
| Ager |
G |
T |
17: 34,819,051 (GRCm39) |
V300L |
probably damaging |
Het |
| Ank3 |
C |
T |
10: 69,822,660 (GRCm39) |
S1726L |
probably benign |
Het |
| Boc |
A |
G |
16: 44,311,014 (GRCm39) |
I740T |
probably damaging |
Het |
| Ces3a |
G |
A |
8: 105,777,198 (GRCm39) |
V174M |
probably damaging |
Het |
| Cisd1 |
A |
T |
10: 71,172,244 (GRCm39) |
W13R |
probably damaging |
Het |
| Commd8 |
A |
T |
5: 72,320,107 (GRCm39) |
D111E |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,490,104 (GRCm39) |
D1691V |
probably damaging |
Het |
| Desi2 |
A |
G |
1: 178,065,479 (GRCm39) |
Y15C |
probably damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,864,013 (GRCm39) |
V24A |
probably damaging |
Het |
| Dock10 |
G |
A |
1: 80,538,640 (GRCm39) |
T968M |
probably benign |
Het |
| Dsel |
A |
T |
1: 111,787,168 (GRCm39) |
F1122L |
probably damaging |
Het |
| Eml3 |
T |
C |
19: 8,910,807 (GRCm39) |
F220L |
probably damaging |
Het |
| Entpd2 |
A |
C |
2: 25,290,824 (GRCm39) |
N443H |
probably damaging |
Het |
| Epgn |
A |
G |
5: 91,176,222 (GRCm39) |
N36S |
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,814,785 (GRCm39) |
S3506I |
possibly damaging |
Het |
| Gprin3 |
T |
C |
6: 59,331,771 (GRCm39) |
S179G |
probably benign |
Het |
| Grifin |
G |
T |
5: 140,549,342 (GRCm39) |
H125N |
possibly damaging |
Het |
| H1f9 |
A |
G |
11: 94,858,989 (GRCm39) |
T95A |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,506,078 (GRCm39) |
V3816A |
probably damaging |
Het |
| Hspa14 |
A |
G |
2: 3,499,207 (GRCm39) |
F196L |
probably benign |
Het |
| Ice1 |
T |
C |
13: 70,754,620 (GRCm39) |
K489E |
probably benign |
Het |
| Jmjd6 |
C |
T |
11: 116,730,682 (GRCm39) |
W117* |
probably null |
Het |
| Lrit2 |
G |
T |
14: 36,794,192 (GRCm39) |
A419S |
probably benign |
Het |
| Mc3r |
T |
C |
2: 172,091,092 (GRCm39) |
S105P |
probably benign |
Het |
| Mccc1 |
A |
G |
3: 36,018,531 (GRCm39) |
V601A |
probably benign |
Het |
| Myo1f |
A |
G |
17: 33,795,627 (GRCm39) |
D91G |
probably damaging |
Het |
| Myo1f |
G |
A |
17: 33,799,259 (GRCm39) |
E255K |
possibly damaging |
Het |
| Necap1 |
T |
A |
6: 122,858,503 (GRCm39) |
D115E |
probably benign |
Het |
| Or4b12 |
A |
T |
2: 90,096,786 (GRCm39) |
|
probably null |
Het |
| Or4k15b |
G |
A |
14: 50,272,444 (GRCm39) |
R139C |
probably benign |
Het |
| Or51b6 |
T |
A |
7: 103,555,883 (GRCm39) |
M79K |
probably damaging |
Het |
| Papln |
A |
G |
12: 83,818,652 (GRCm39) |
E78G |
probably null |
Het |
| Phldb3 |
T |
C |
7: 24,326,147 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
A |
G |
8: 117,724,321 (GRCm39) |
I2394T |
probably damaging |
Het |
| Ppa2 |
A |
T |
3: 133,036,200 (GRCm39) |
N118I |
probably damaging |
Het |
| Ppef2 |
A |
T |
5: 92,398,388 (GRCm39) |
C43* |
probably null |
Het |
| Pramel51 |
A |
G |
12: 88,143,111 (GRCm39) |
L169P |
probably damaging |
Het |
| Rab27a |
G |
A |
9: 72,992,321 (GRCm39) |
|
probably null |
Het |
| Rabgap1l |
A |
T |
1: 160,169,683 (GRCm39) |
F47I |
probably damaging |
Het |
| Rala |
A |
G |
13: 18,067,746 (GRCm39) |
I95T |
probably damaging |
Het |
| Rgl2 |
A |
G |
17: 34,151,691 (GRCm39) |
D245G |
probably benign |
Het |
| Rnf34 |
A |
T |
5: 123,002,146 (GRCm39) |
T35S |
probably damaging |
Het |
| Ros1 |
C |
T |
10: 52,057,894 (GRCm39) |
R51Q |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,372,716 (GRCm39) |
D1515G |
possibly damaging |
Het |
| Scn7a |
T |
C |
2: 66,505,870 (GRCm39) |
E1673G |
probably benign |
Het |
| Slc6a20a |
A |
C |
9: 123,470,773 (GRCm39) |
|
probably null |
Het |
| Tdrd5 |
A |
T |
1: 156,122,070 (GRCm39) |
S280T |
probably damaging |
Het |
| Tent2 |
A |
T |
13: 93,312,246 (GRCm39) |
C180* |
probably null |
Het |
| Tie1 |
T |
C |
4: 118,332,800 (GRCm39) |
I911V |
possibly damaging |
Het |
| Vipas39 |
G |
A |
12: 87,298,581 (GRCm39) |
R194* |
probably null |
Het |
| Ybx3 |
A |
C |
6: 131,345,451 (GRCm39) |
N307K |
possibly damaging |
Het |
| Ylpm1 |
A |
T |
12: 85,088,899 (GRCm39) |
H1216L |
probably 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 |
|
|
IGL01326:C8a
|
APN |
4 |
104,713,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTATGGGGTACTGAGAGACGC -3'
(R):5'- GTTCCACTTAACACAAAGTAGAGC -3'
Sequencing Primer
(F):5'- TACTGAGAGACGCAGACTTTATG -3'
(R):5'- CTTAACACAAAGTAGAGCATTGTTGG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation