Incidental Mutation 'R4598:C6'
| ID |
345382 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C6
|
| Ensembl Gene |
ENSMUSG00000022181 |
| Gene Name |
complement component 6 |
| Synonyms |
|
| MMRRC Submission |
041814-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R4598 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
4756550-4833527 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4792852 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 319
(L319P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124417
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022788]
[ENSMUST00000161997]
[ENSMUST00000162350]
[ENSMUST00000162585]
|
| AlphaFold |
E9Q6D8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022788
AA Change: L319P
PolyPhen 2
Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000022788
Gene: ENSMUSG00000022181
AA Change: L319P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
TSP1
|
26 |
79 |
1.68e-11 |
SMART |
|
TSP1
|
84 |
134 |
1.05e-3 |
SMART |
|
LDLa
|
139 |
175 |
1.46e-11 |
SMART |
|
MACPF
|
312 |
516 |
1.89e-59 |
SMART |
|
TSP1
|
568 |
617 |
3.9e-7 |
SMART |
|
CCP
|
644 |
699 |
1.21e-9 |
SMART |
|
CCP
|
704 |
761 |
3.56e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161997
|
| SMART Domains |
Protein: ENSMUSP00000125358
Gene: ENSMUSG00000022181
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
TSP1
|
26 |
79 |
1.68e-11 |
SMART |
|
TSP1
|
84 |
134 |
1.05e-3 |
SMART |
|
LDLa
|
139 |
175 |
1.46e-11 |
SMART |
|
Blast:TSP1
|
197 |
223 |
3e-9 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162350
AA Change: L319P
PolyPhen 2
Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000125693
Gene: ENSMUSG00000022181
AA Change: L319P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
TSP1
|
26 |
79 |
1.68e-11 |
SMART |
|
TSP1
|
84 |
134 |
1.05e-3 |
SMART |
|
LDLa
|
139 |
175 |
1.46e-11 |
SMART |
|
MACPF
|
312 |
516 |
1.89e-59 |
SMART |
|
TSP1
|
568 |
617 |
3.9e-7 |
SMART |
|
CCP
|
644 |
699 |
1.21e-9 |
SMART |
|
CCP
|
704 |
761 |
3.56e-7 |
SMART |
|
Blast:FIMAC
|
859 |
931 |
1e-36 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162585
AA Change: L319P
PolyPhen 2
Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124417
Gene: ENSMUSG00000022181
AA Change: L319P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
TSP1
|
26 |
79 |
1.68e-11 |
SMART |
|
TSP1
|
84 |
134 |
1.05e-3 |
SMART |
|
LDLa
|
139 |
175 |
1.46e-11 |
SMART |
|
MACPF
|
312 |
516 |
1.89e-59 |
SMART |
|
TSP1
|
568 |
617 |
3.9e-7 |
SMART |
|
CCP
|
644 |
699 |
1.21e-9 |
SMART |
|
CCP
|
704 |
761 |
3.56e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162729
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 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 a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit decreased susceptibility to ischemia reperfusion-induced renal injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
G |
A |
1: 11,818,188 (GRCm39) |
|
probably null |
Het |
| Abca14 |
T |
C |
7: 119,854,626 (GRCm39) |
V930A |
probably benign |
Het |
| Abcb7 |
A |
C |
X: 103,366,988 (GRCm39) |
D135E |
probably benign |
Het |
| Ace |
T |
A |
11: 105,872,585 (GRCm39) |
|
probably null |
Het |
| Acnat1 |
T |
C |
4: 49,450,781 (GRCm39) |
D110G |
probably benign |
Het |
| Ak9 |
C |
T |
10: 41,259,907 (GRCm39) |
P862S |
probably damaging |
Het |
| Atp1a3 |
A |
G |
7: 24,678,766 (GRCm39) |
S972P |
probably damaging |
Het |
| Bmf |
C |
A |
2: 118,379,609 (GRCm39) |
A56S |
probably benign |
Het |
| Cab39 |
A |
G |
1: 85,776,050 (GRCm39) |
Y249C |
probably damaging |
Het |
| Cdc14b |
T |
C |
13: 64,395,088 (GRCm39) |
T69A |
probably benign |
Het |
| Cep162 |
A |
G |
9: 87,085,848 (GRCm39) |
Y1159H |
possibly damaging |
Het |
| Chrna7 |
A |
G |
7: 62,753,538 (GRCm39) |
M327T |
probably damaging |
Het |
| Clca3a2 |
A |
T |
3: 144,511,444 (GRCm39) |
N41K |
probably damaging |
Het |
| Clock |
T |
C |
5: 76,383,657 (GRCm39) |
M499V |
probably benign |
Het |
| Col5a3 |
A |
G |
9: 20,685,855 (GRCm39) |
|
probably null |
Het |
| Coq6 |
T |
C |
12: 84,408,913 (GRCm39) |
V30A |
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,327,227 (GRCm39) |
I473V |
probably benign |
Het |
| D430041D05Rik |
A |
T |
2: 104,038,528 (GRCm39) |
V1547D |
probably damaging |
Het |
| Dhx9 |
TCC |
TC |
1: 153,342,797 (GRCm39) |
|
probably null |
Het |
| Dock2 |
T |
A |
11: 34,189,536 (GRCm39) |
Y1545F |
probably damaging |
Het |
| Eif4e3 |
T |
A |
6: 99,617,671 (GRCm39) |
I67L |
probably benign |
Het |
| Epor |
A |
G |
9: 21,873,155 (GRCm39) |
S86P |
probably benign |
Het |
| Esp31 |
T |
A |
17: 38,952,012 (GRCm39) |
|
probably null |
Het |
| Esrp2 |
A |
G |
8: 106,859,343 (GRCm39) |
M498T |
probably damaging |
Het |
| F5 |
T |
C |
1: 164,032,366 (GRCm39) |
I1771T |
probably benign |
Het |
| Fancd2 |
C |
A |
6: 113,562,438 (GRCm39) |
H1259Q |
probably benign |
Het |
| Gale |
C |
A |
4: 135,695,148 (GRCm39) |
S341* |
probably null |
Het |
| Ints12 |
T |
A |
3: 132,804,214 (GRCm39) |
I67N |
probably benign |
Het |
| Kat2b |
A |
G |
17: 53,977,826 (GRCm39) |
Y791C |
probably benign |
Het |
| Kazn |
A |
G |
4: 141,937,403 (GRCm39) |
V108A |
possibly damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,853,228 (GRCm39) |
T109A |
probably damaging |
Het |
| Med13 |
T |
C |
11: 86,169,392 (GRCm39) |
T1955A |
probably damaging |
Het |
| Megf10 |
A |
T |
18: 57,420,884 (GRCm39) |
S841C |
probably damaging |
Het |
| Megf10 |
G |
A |
18: 57,322,675 (GRCm39) |
|
probably null |
Het |
| Mep1a |
A |
G |
17: 43,802,469 (GRCm39) |
|
probably null |
Het |
| Mrap2 |
A |
T |
9: 87,064,842 (GRCm39) |
E194D |
probably damaging |
Het |
| Msh2 |
A |
G |
17: 88,016,006 (GRCm39) |
K546R |
probably damaging |
Het |
| Ndc80 |
T |
C |
17: 71,828,063 (GRCm39) |
D88G |
probably damaging |
Het |
| Nrip1 |
A |
G |
16: 76,089,968 (GRCm39) |
F530L |
probably damaging |
Het |
| Or2y10 |
T |
C |
11: 49,455,545 (GRCm39) |
S266P |
probably damaging |
Het |
| Or52e7 |
A |
C |
7: 104,685,280 (GRCm39) |
I292L |
probably benign |
Het |
| Or6c216 |
T |
C |
10: 129,678,864 (GRCm39) |
T16A |
possibly damaging |
Het |
| Or9i16 |
A |
T |
19: 13,865,381 (GRCm39) |
H64Q |
probably damaging |
Het |
| Oxtr |
C |
T |
6: 112,466,713 (GRCm39) |
G16R |
probably benign |
Het |
| Pdgfrb |
A |
T |
18: 61,201,829 (GRCm39) |
K464N |
probably benign |
Het |
| Pja2 |
A |
T |
17: 64,620,025 (GRCm39) |
M1K |
probably null |
Het |
| Pkhd1 |
A |
T |
1: 20,573,280 (GRCm39) |
N1875K |
probably damaging |
Het |
| Pogz |
T |
C |
3: 94,787,491 (GRCm39) |
S1360P |
possibly damaging |
Het |
| Proc |
A |
T |
18: 32,256,512 (GRCm39) |
L385Q |
probably damaging |
Het |
| Ptprm |
A |
G |
17: 67,402,492 (GRCm39) |
I132T |
probably benign |
Het |
| Rpgr |
A |
G |
X: 10,062,255 (GRCm39) |
S343P |
probably benign |
Het |
| Rsu1 |
T |
C |
2: 13,174,815 (GRCm39) |
Y225C |
probably damaging |
Het |
| Scyl1 |
A |
G |
19: 5,820,481 (GRCm39) |
S118P |
probably damaging |
Het |
| Sec61a1 |
T |
C |
6: 88,483,131 (GRCm39) |
N414D |
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Sema7a |
A |
G |
9: 57,860,834 (GRCm39) |
D65G |
probably benign |
Het |
| Slc25a45 |
A |
G |
19: 5,934,464 (GRCm39) |
Y144C |
probably damaging |
Het |
| Slc26a6 |
A |
G |
9: 108,733,579 (GRCm39) |
Y103C |
probably damaging |
Het |
| Stat3 |
C |
T |
11: 100,794,500 (GRCm39) |
D270N |
probably damaging |
Het |
| Taar8b |
T |
C |
10: 23,967,736 (GRCm39) |
S153G |
probably benign |
Het |
| Top1 |
A |
G |
2: 160,562,885 (GRCm39) |
E697G |
possibly damaging |
Het |
| Trappc11 |
G |
A |
8: 47,966,801 (GRCm39) |
T470I |
probably damaging |
Het |
| Ttc7b |
G |
A |
12: 100,466,376 (GRCm39) |
R79C |
probably damaging |
Het |
| Usp29 |
A |
G |
7: 6,965,479 (GRCm39) |
T441A |
probably benign |
Het |
| Vmn2r110 |
A |
T |
17: 20,804,029 (GRCm39) |
L182* |
probably null |
Het |
| Zgrf1 |
T |
C |
3: 127,394,679 (GRCm39) |
I1345T |
probably benign |
Het |
| Zscan25 |
G |
T |
5: 145,227,815 (GRCm39) |
R493L |
probably benign |
Het |
|
| Other mutations in C6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00417:C6
|
APN |
15 |
4,789,449 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL00918:C6
|
APN |
15 |
4,764,739 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01615:C6
|
APN |
15 |
4,811,378 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01637:C6
|
APN |
15 |
4,789,399 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01662:C6
|
APN |
15 |
4,822,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02293:C6
|
APN |
15 |
4,784,785 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02431:C6
|
APN |
15 |
4,789,343 (GRCm39) |
nonsense |
probably null |
|
|
IGL02568:C6
|
APN |
15 |
4,820,646 (GRCm39) |
nonsense |
probably null |
|
|
IGL02688:C6
|
APN |
15 |
4,827,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02737:C6
|
APN |
15 |
4,826,396 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0195:C6
|
UTSW |
15 |
4,792,953 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0334:C6
|
UTSW |
15 |
4,784,849 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0879:C6
|
UTSW |
15 |
4,792,818 (GRCm39) |
splice site |
probably benign |
|
|
R0940:C6
|
UTSW |
15 |
4,764,717 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1342:C6
|
UTSW |
15 |
4,769,231 (GRCm39) |
splice site |
probably benign |
|
|
R1649:C6
|
UTSW |
15 |
4,764,739 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1709:C6
|
UTSW |
15 |
4,820,452 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1967:C6
|
UTSW |
15 |
4,789,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2068:C6
|
UTSW |
15 |
4,820,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3056:C6
|
UTSW |
15 |
4,769,355 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3791:C6
|
UTSW |
15 |
4,764,717 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3821:C6
|
UTSW |
15 |
4,819,066 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3895:C6
|
UTSW |
15 |
4,837,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4178:C6
|
UTSW |
15 |
4,764,621 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4440:C6
|
UTSW |
15 |
4,764,733 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4632:C6
|
UTSW |
15 |
4,789,350 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4756:C6
|
UTSW |
15 |
4,811,394 (GRCm39) |
missense |
probably benign |
|
|
R4879:C6
|
UTSW |
15 |
4,833,129 (GRCm39) |
splice site |
probably null |
|
|
R5452:C6
|
UTSW |
15 |
4,844,311 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5538:C6
|
UTSW |
15 |
4,844,311 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5547:C6
|
UTSW |
15 |
4,837,970 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5790:C6
|
UTSW |
15 |
4,792,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5862:C6
|
UTSW |
15 |
4,764,745 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5946:C6
|
UTSW |
15 |
4,837,996 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6049:C6
|
UTSW |
15 |
4,764,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6247:C6
|
UTSW |
15 |
4,793,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6438:C6
|
UTSW |
15 |
4,826,465 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6873:C6
|
UTSW |
15 |
4,820,461 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7052:C6
|
UTSW |
15 |
4,763,177 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7302:C6
|
UTSW |
15 |
4,826,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7361:C6
|
UTSW |
15 |
4,826,404 (GRCm39) |
nonsense |
probably null |
|
|
R7481:C6
|
UTSW |
15 |
4,844,357 (GRCm39) |
missense |
|
|
|
R7492:C6
|
UTSW |
15 |
4,761,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7498:C6
|
UTSW |
15 |
4,792,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7569:C6
|
UTSW |
15 |
4,819,063 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7653:C6
|
UTSW |
15 |
4,844,244 (GRCm39) |
missense |
|
|
|
R7666:C6
|
UTSW |
15 |
4,818,987 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7843:C6
|
UTSW |
15 |
4,837,886 (GRCm39) |
missense |
|
|
|
R8073:C6
|
UTSW |
15 |
4,764,675 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8784:C6
|
UTSW |
15 |
4,822,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8814:C6
|
UTSW |
15 |
4,822,266 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8825:C6
|
UTSW |
15 |
4,761,170 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8878:C6
|
UTSW |
15 |
4,826,454 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8987:C6
|
UTSW |
15 |
4,844,344 (GRCm39) |
missense |
|
|
|
R9088:C6
|
UTSW |
15 |
4,792,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9216:C6
|
UTSW |
15 |
4,820,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9253:C6
|
UTSW |
15 |
4,764,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9288:C6
|
UTSW |
15 |
4,835,532 (GRCm39) |
missense |
|
|
|
R9517:C6
|
UTSW |
15 |
4,827,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGAAGACTGCATGTATGGG -3'
(R):5'- ACCTGAGTTCTGTAGCTCCTGG -3'
Sequencing Primer
(F):5'- CAGTAGGAATGGGGCTAATG -3'
(R):5'- GGTAGATAAGGTCATACTTGCCCC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation