Incidental Mutation 'R6222:C7'
| ID |
504102 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C7
|
| Ensembl Gene |
ENSMUSG00000079105 |
| Gene Name |
complement component 7 |
| Synonyms |
LOC383055 |
| MMRRC Submission |
044353-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6222 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
5018244-5093222 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 5041423 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 494
(D494E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110689]
|
| AlphaFold |
D3YXF5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110689
AA Change: D494E
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106317
Gene: ENSMUSG00000079105
AA Change: D494E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
TSP1
|
30 |
80 |
1.95e-7 |
SMART |
|
LDLa
|
84 |
121 |
6.53e-9 |
SMART |
|
MACPF
|
248 |
450 |
9.45e-51 |
SMART |
|
TSP1
|
503 |
551 |
1.62e-4 |
SMART |
|
CCP
|
571 |
626 |
1.84e-9 |
SMART |
|
CCP
|
631 |
688 |
2.23e-8 |
SMART |
|
FIMAC
|
699 |
766 |
1.63e-24 |
SMART |
|
FIMAC
|
773 |
841 |
4.65e-20 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serum glycoprotein that forms a membrane attack complex together with complement components C5b, C6, C8, and C9 as part of the terminal complement pathway of the innate immune system. The protein encoded by this gene contains a cholesterol-dependent cytolysin/membrane attack complex/perforin-like (CDC/MACPF) domain and belongs to a large family of structurally related molecules that form pores involved in host immunity and bacterial pathogenesis. This protein initiates membrane attack complex formation by binding the C5b-C6 subcomplex and inserts into the phospholipid bilayer, serving as a membrane anchor. Mutations in this gene are associated with a rare disorder called C7 deficiency. [provided by RefSeq, Nov 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
T |
C |
14: 35,531,923 (GRCm39) |
*217W |
probably null |
Het |
| Abcc3 |
A |
G |
11: 94,259,431 (GRCm39) |
F337L |
probably benign |
Het |
| Abcc4 |
T |
A |
14: 118,767,368 (GRCm39) |
H903L |
probably damaging |
Het |
| Akap7 |
T |
A |
10: 25,159,844 (GRCm39) |
K119* |
probably null |
Het |
| Als2 |
T |
C |
1: 59,219,284 (GRCm39) |
D1222G |
probably benign |
Het |
| Ano4 |
T |
C |
10: 88,863,084 (GRCm39) |
Y296C |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,377,922 (GRCm39) |
|
probably null |
Het |
| Arl10 |
T |
C |
13: 54,726,644 (GRCm39) |
F141L |
probably damaging |
Het |
| B130006D01Rik |
T |
C |
11: 95,616,988 (GRCm39) |
|
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,479,147 (GRCm39) |
S197T |
possibly damaging |
Het |
| Bicd1 |
A |
T |
6: 149,414,463 (GRCm39) |
D392V |
probably damaging |
Het |
| Bmi1 |
T |
A |
2: 18,688,513 (GRCm39) |
M168K |
possibly damaging |
Het |
| Cacna1s |
A |
T |
1: 136,032,360 (GRCm39) |
N1221I |
probably benign |
Het |
| Cacng7 |
A |
G |
7: 3,385,128 (GRCm39) |
T10A |
probably damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
| Cdpf1 |
T |
C |
15: 85,691,643 (GRCm39) |
R108G |
possibly damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,479,472 (GRCm39) |
K196N |
probably benign |
Het |
| Cftr |
A |
C |
6: 18,282,500 (GRCm39) |
T1067P |
probably benign |
Het |
| Cma2 |
T |
C |
14: 56,210,649 (GRCm39) |
I112T |
possibly damaging |
Het |
| Cntnap4 |
A |
G |
8: 113,569,353 (GRCm39) |
S916G |
probably damaging |
Het |
| Cwf19l2 |
T |
A |
9: 3,454,569 (GRCm39) |
Y627* |
probably null |
Het |
| Fam204a |
A |
G |
19: 60,188,400 (GRCm39) |
|
probably null |
Het |
| Galnt1 |
T |
A |
18: 24,397,591 (GRCm39) |
|
probably null |
Het |
| Gbe1 |
T |
C |
16: 70,325,900 (GRCm39) |
|
probably null |
Het |
| Gm6871 |
C |
T |
7: 41,196,006 (GRCm39) |
D244N |
probably damaging |
Het |
| Gna15 |
T |
C |
10: 81,347,880 (GRCm39) |
T189A |
probably damaging |
Het |
| Igsf10 |
C |
T |
3: 59,226,336 (GRCm39) |
D2446N |
possibly damaging |
Het |
| Ing2 |
T |
C |
8: 48,121,966 (GRCm39) |
K194R |
possibly damaging |
Het |
| Ino80d |
G |
A |
1: 63,097,684 (GRCm39) |
H737Y |
probably damaging |
Het |
| Izumo4 |
C |
T |
10: 80,538,885 (GRCm39) |
R83W |
probably damaging |
Het |
| Kcnt1 |
G |
A |
2: 25,782,522 (GRCm39) |
V219M |
probably damaging |
Het |
| Kiz |
A |
T |
2: 146,732,981 (GRCm39) |
S386C |
probably damaging |
Het |
| Ldlrap1 |
C |
T |
4: 134,484,671 (GRCm39) |
E108K |
probably damaging |
Het |
| Nol11 |
G |
T |
11: 107,062,442 (GRCm39) |
T598K |
possibly damaging |
Het |
| Or2ad1 |
T |
C |
13: 21,327,047 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or4c100 |
T |
C |
2: 88,329,614 (GRCm39) |
Y62H |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,374,652 (GRCm39) |
K1828E |
probably damaging |
Het |
| Prl3a1 |
T |
C |
13: 27,460,097 (GRCm39) |
F194L |
probably benign |
Het |
| Prss1l |
A |
T |
6: 41,374,100 (GRCm39) |
Y234F |
probably damaging |
Het |
| Reg1 |
A |
T |
6: 78,404,357 (GRCm39) |
Q77L |
probably benign |
Het |
| Ruvbl2 |
G |
T |
7: 45,074,149 (GRCm39) |
D248E |
probably damaging |
Het |
| Sart3 |
C |
T |
5: 113,881,267 (GRCm39) |
A938T |
probably benign |
Het |
| Serpinb5 |
T |
A |
1: 106,798,070 (GRCm39) |
C20S |
probably benign |
Het |
| Sh2d4b |
A |
C |
14: 40,542,694 (GRCm39) |
S361A |
probably damaging |
Het |
| Snx2 |
T |
A |
18: 53,332,896 (GRCm39) |
L190* |
probably null |
Het |
| Sorcs3 |
A |
T |
19: 48,748,296 (GRCm39) |
Y755F |
possibly damaging |
Het |
| Styxl2 |
G |
T |
1: 165,926,214 (GRCm39) |
Q1133K |
probably benign |
Het |
| Tiam2 |
A |
G |
17: 3,503,613 (GRCm39) |
Q930R |
probably damaging |
Het |
| Tll1 |
C |
A |
8: 64,551,568 (GRCm39) |
G271V |
probably benign |
Het |
| Tmem116 |
C |
T |
5: 121,629,171 (GRCm39) |
T188M |
probably benign |
Het |
| Tmem181a |
T |
C |
17: 6,351,192 (GRCm39) |
V367A |
probably benign |
Het |
| Umodl1 |
T |
C |
17: 31,221,866 (GRCm39) |
|
probably null |
Het |
| Virma |
C |
T |
4: 11,527,820 (GRCm39) |
A1187V |
probably damaging |
Het |
| Wdr53 |
T |
C |
16: 32,075,482 (GRCm39) |
V229A |
probably benign |
Het |
| Zcchc10 |
T |
C |
11: 53,223,289 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in C7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02458:C7
|
APN |
15 |
5,088,871 (GRCm39) |
splice site |
probably benign |
|
|
IGL02803:C7
|
APN |
15 |
5,079,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0016:C7
|
UTSW |
15 |
5,076,406 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0016:C7
|
UTSW |
15 |
5,076,406 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0271:C7
|
UTSW |
15 |
5,044,862 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0360:C7
|
UTSW |
15 |
5,018,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0433:C7
|
UTSW |
15 |
5,018,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0505:C7
|
UTSW |
15 |
5,023,624 (GRCm39) |
splice site |
probably benign |
|
|
R1056:C7
|
UTSW |
15 |
5,075,260 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1443:C7
|
UTSW |
15 |
5,088,901 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1468:C7
|
UTSW |
15 |
5,041,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:C7
|
UTSW |
15 |
5,041,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1700:C7
|
UTSW |
15 |
5,032,274 (GRCm39) |
nonsense |
probably null |
|
|
R1774:C7
|
UTSW |
15 |
5,041,557 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1801:C7
|
UTSW |
15 |
5,041,503 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1809:C7
|
UTSW |
15 |
5,063,821 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1986:C7
|
UTSW |
15 |
5,041,494 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2037:C7
|
UTSW |
15 |
5,063,720 (GRCm39) |
nonsense |
probably null |
|
|
R2047:C7
|
UTSW |
15 |
5,075,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2073:C7
|
UTSW |
15 |
5,019,910 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3972:C7
|
UTSW |
15 |
5,037,133 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4080:C7
|
UTSW |
15 |
5,019,946 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4200:C7
|
UTSW |
15 |
5,019,791 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4576:C7
|
UTSW |
15 |
5,032,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4815:C7
|
UTSW |
15 |
5,088,887 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4995:C7
|
UTSW |
15 |
5,079,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5300:C7
|
UTSW |
15 |
5,061,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5562:C7
|
UTSW |
15 |
5,061,397 (GRCm39) |
nonsense |
probably null |
|
|
R5708:C7
|
UTSW |
15 |
5,044,883 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5740:C7
|
UTSW |
15 |
5,086,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5873:C7
|
UTSW |
15 |
5,034,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6516:C7
|
UTSW |
15 |
5,086,563 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6810:C7
|
UTSW |
15 |
5,037,136 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7019:C7
|
UTSW |
15 |
5,075,164 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7199:C7
|
UTSW |
15 |
5,023,725 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7276:C7
|
UTSW |
15 |
5,041,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7422:C7
|
UTSW |
15 |
5,041,538 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7652:C7
|
UTSW |
15 |
5,041,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7783:C7
|
UTSW |
15 |
5,037,192 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8266:C7
|
UTSW |
15 |
5,037,141 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8295:C7
|
UTSW |
15 |
5,018,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8848:C7
|
UTSW |
15 |
5,088,911 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8951:C7
|
UTSW |
15 |
5,032,231 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9008:C7
|
UTSW |
15 |
5,040,409 (GRCm39) |
missense |
|
|
|
R9256:C7
|
UTSW |
15 |
5,023,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9466:C7
|
UTSW |
15 |
5,044,884 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9562:C7
|
UTSW |
15 |
5,086,579 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9565:C7
|
UTSW |
15 |
5,086,579 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9655:C7
|
UTSW |
15 |
5,041,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9757:C7
|
UTSW |
15 |
5,075,134 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:C7
|
UTSW |
15 |
5,044,857 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGGTGCCAGCTGAGCAAG -3'
(R):5'- CCGTTGTATGAGCTGGTCAAGG -3'
Sequencing Primer
(F):5'- TGCCAGCTGAGCAAGAAGAG -3'
(R):5'- GCCTCTGTGAAAAGACTGTACCTG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation