Incidental Mutation 'R6805:C1ra'
| ID |
533530 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C1ra
|
| Ensembl Gene |
ENSMUSG00000055172 |
| Gene Name |
complement component 1, r subcomponent A |
| Synonyms |
mC1rA |
| MMRRC Submission |
044918-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6805 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124512405-124523443 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 124517725 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 316
(E316K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068593]
|
| AlphaFold |
Q8CG16 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068593
AA Change: E316K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000063707
Gene: ENSMUSG00000055172
AA Change: E316K
| Domain | Start | End | E-Value | Type |
|---|
|
CUB
|
14 |
140 |
1.56e-35 |
SMART |
|
EGF_CA
|
141 |
189 |
1.88e-10 |
SMART |
|
CUB
|
192 |
304 |
4.74e-35 |
SMART |
|
CCP
|
308 |
370 |
5.56e-9 |
SMART |
|
CCP
|
375 |
446 |
1.53e-6 |
SMART |
|
Tryp_SPc
|
462 |
699 |
2.7e-71 |
SMART |
|
| Meta Mutation Damage Score |
0.0792 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 97.1%
|
| Validation Efficiency |
98% (62/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410089E03Rik |
T |
C |
15: 8,244,306 (GRCm38) |
V2591A |
probably benign |
Het |
| 4930407I10Rik |
A |
G |
15: 82,062,543 (GRCm38) |
T214A |
possibly damaging |
Het |
| A930009A15Rik |
G |
T |
10: 115,579,905 (GRCm38) |
|
probably benign |
Het |
| Aadac |
A |
C |
3: 60,037,336 (GRCm38) |
D143A |
probably benign |
Het |
| Acot10 |
T |
G |
15: 20,665,366 (GRCm38) |
T430P |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,826,172 (GRCm38) |
T197A |
possibly damaging |
Het |
| B230118H07Rik |
T |
C |
2: 101,566,459 (GRCm38) |
K192E |
probably benign |
Het |
| Bbs1 |
A |
G |
19: 4,900,615 (GRCm38) |
I200T |
probably damaging |
Het |
| Cadps |
G |
A |
14: 12,467,103 (GRCm38) |
A943V |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,681,331 (GRCm38) |
E48G |
probably damaging |
Het |
| Clca1 |
A |
T |
3: 145,018,667 (GRCm38) |
C211S |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 77,054,239 (GRCm38) |
L1429P |
probably damaging |
Het |
| Cul2 |
T |
G |
18: 3,421,263 (GRCm38) |
Y196D |
probably damaging |
Het |
| D630023F18Rik |
T |
C |
1: 65,117,206 (GRCm38) |
S43G |
probably benign |
Het |
| Ddx39 |
G |
A |
8: 83,723,137 (GRCm38) |
R427Q |
probably damaging |
Het |
| Def6 |
A |
G |
17: 28,223,717 (GRCm38) |
T285A |
probably damaging |
Het |
| Defb21 |
T |
A |
2: 152,574,869 (GRCm38) |
D88E |
probably benign |
Het |
| Defb6 |
A |
G |
8: 19,228,101 (GRCm38) |
K63R |
probably benign |
Het |
| Dnph1 |
T |
C |
17: 46,498,744 (GRCm38) |
S112P |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,586,690 (GRCm38) |
I467L |
probably benign |
Het |
| Dspp |
C |
A |
5: 104,175,850 (GRCm38) |
H286Q |
probably benign |
Het |
| Eya1 |
T |
A |
1: 14,183,277 (GRCm38) |
T459S |
probably benign |
Het |
| Faf1 |
T |
C |
4: 109,861,852 (GRCm38) |
L385P |
probably damaging |
Het |
| Fbxw21 |
C |
A |
9: 109,157,565 (GRCm38) |
R82L |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,065,094 (GRCm38) |
V2048A |
probably benign |
Het |
| Galnt5 |
A |
T |
2: 58,035,299 (GRCm38) |
D864V |
possibly damaging |
Het |
| Gata6 |
T |
G |
18: 11,054,460 (GRCm38) |
S130A |
possibly damaging |
Het |
| Gbf1 |
G |
T |
19: 46,262,507 (GRCm38) |
R434L |
probably damaging |
Het |
| Gga3 |
A |
G |
11: 115,585,762 (GRCm38) |
F709L |
probably damaging |
Het |
| Hcar1 |
A |
G |
5: 123,879,130 (GRCm38) |
V166A |
probably benign |
Het |
| Hexa |
T |
A |
9: 59,563,937 (GRCm38) |
N491K |
possibly damaging |
Het |
| Hpse2 |
A |
T |
19: 43,294,321 (GRCm38) |
C164* |
probably null |
Het |
| Ifi202b |
T |
C |
1: 173,974,989 (GRCm38) |
Y93C |
probably damaging |
Het |
| Iscu |
T |
A |
5: 113,775,243 (GRCm38) |
I79N |
probably damaging |
Het |
| Jmjd7 |
T |
A |
2: 120,031,323 (GRCm38) |
Y182* |
probably null |
Het |
| Jup |
A |
T |
11: 100,383,458 (GRCm38) |
D135E |
probably benign |
Het |
| Kit |
T |
A |
5: 75,652,808 (GRCm38) |
I881N |
probably damaging |
Het |
| Llgl1 |
T |
A |
11: 60,702,865 (GRCm38) |
S55T |
probably benign |
Het |
| Lonp2 |
G |
A |
8: 86,709,096 (GRCm38) |
M653I |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,854,320 (GRCm38) |
Y307H |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,278,796 (GRCm38) |
M1914K |
possibly damaging |
Het |
| Ms4a1 |
A |
G |
19: 11,253,173 (GRCm38) |
|
probably null |
Het |
| Naip1 |
A |
G |
13: 100,427,341 (GRCm38) |
S439P |
probably benign |
Het |
| Nrg1 |
T |
C |
8: 31,821,264 (GRCm38) |
R476G |
probably damaging |
Het |
| Olfr1129 |
T |
A |
2: 87,574,918 (GRCm38) |
|
probably null |
Het |
| Olfr835 |
G |
T |
9: 19,035,301 (GRCm38) |
M59I |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,805,561 (GRCm38) |
|
probably null |
Het |
| Phf12 |
G |
A |
11: 78,027,373 (GRCm38) |
G804R |
probably damaging |
Het |
| Pou6f2 |
T |
C |
13: 18,239,489 (GRCm38) |
T234A |
|
Het |
| Prune2 |
A |
T |
19: 17,120,590 (GRCm38) |
I1153L |
probably benign |
Het |
| Ptprc |
C |
T |
1: 138,067,885 (GRCm38) |
|
probably null |
Het |
| Qpctl |
T |
C |
7: 19,149,154 (GRCm38) |
Q11R |
probably benign |
Het |
| Rfx4 |
A |
G |
10: 84,840,228 (GRCm38) |
K103E |
possibly damaging |
Het |
| Srcin1 |
T |
A |
11: 97,551,980 (GRCm38) |
|
probably null |
Het |
| St6galnac1 |
G |
T |
11: 116,768,944 (GRCm38) |
A181D |
probably damaging |
Het |
| Stk36 |
T |
C |
1: 74,622,239 (GRCm38) |
V475A |
probably benign |
Het |
| Tbc1d21 |
T |
C |
9: 58,361,288 (GRCm38) |
T263A |
possibly damaging |
Het |
| Tex24 |
A |
T |
8: 27,345,000 (GRCm38) |
K185N |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,698,153 (GRCm38) |
V2174E |
possibly damaging |
Het |
| Tollip |
A |
G |
7: 141,890,845 (GRCm38) |
S57P |
probably benign |
Het |
| Zbtb49 |
A |
G |
5: 38,213,241 (GRCm38) |
|
probably benign |
Het |
| Zfp758 |
A |
G |
17: 22,361,669 (GRCm38) |
T30A |
probably benign |
Het |
|
| Other mutations in C1ra |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00555:C1ra
|
APN |
6 |
124,522,291 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03079:C1ra
|
APN |
6 |
124,519,835 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03151:C1ra
|
APN |
6 |
124,519,771 (GRCm38) |
missense |
probably benign |
0.09 |
|
innate
|
UTSW |
6 |
124,522,651 (GRCm38) |
missense |
probably damaging |
1.00 |
|
mueller-eberhardt
|
UTSW |
6 |
124,512,801 (GRCm38) |
critical splice donor site |
probably null |
|
|
pillemer
|
UTSW |
6 |
124,516,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0331:C1ra
|
UTSW |
6 |
124,519,435 (GRCm38) |
splice site |
probably null |
|
|
R0457:C1ra
|
UTSW |
6 |
124,522,753 (GRCm38) |
missense |
probably benign |
|
|
R0472:C1ra
|
UTSW |
6 |
124,517,444 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0570:C1ra
|
UTSW |
6 |
124,513,705 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0634:C1ra
|
UTSW |
6 |
124,517,505 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R0661:C1ra
|
UTSW |
6 |
124,522,377 (GRCm38) |
missense |
probably benign |
|
|
R1451:C1ra
|
UTSW |
6 |
124,521,641 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1640:C1ra
|
UTSW |
6 |
124,522,274 (GRCm38) |
missense |
probably benign |
0.17 |
|
R1698:C1ra
|
UTSW |
6 |
124,522,766 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4020:C1ra
|
UTSW |
6 |
124,519,777 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4801:C1ra
|
UTSW |
6 |
124,513,768 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4802:C1ra
|
UTSW |
6 |
124,513,768 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4909:C1ra
|
UTSW |
6 |
124,522,334 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5086:C1ra
|
UTSW |
6 |
124,519,729 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5108:C1ra
|
UTSW |
6 |
124,522,922 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5372:C1ra
|
UTSW |
6 |
124,521,625 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5421:C1ra
|
UTSW |
6 |
124,522,790 (GRCm38) |
missense |
probably benign |
0.36 |
|
R5635:C1ra
|
UTSW |
6 |
124,516,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6438:C1ra
|
UTSW |
6 |
124,513,777 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R6518:C1ra
|
UTSW |
6 |
124,521,575 (GRCm38) |
splice site |
probably null |
|
|
R6738:C1ra
|
UTSW |
6 |
124,517,759 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6804:C1ra
|
UTSW |
6 |
124,517,725 (GRCm38) |
missense |
probably benign |
|
|
R6939:C1ra
|
UTSW |
6 |
124,512,801 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6981:C1ra
|
UTSW |
6 |
124,517,725 (GRCm38) |
missense |
probably benign |
|
|
R6982:C1ra
|
UTSW |
6 |
124,517,725 (GRCm38) |
missense |
probably benign |
|
|
R7056:C1ra
|
UTSW |
6 |
124,517,725 (GRCm38) |
missense |
probably benign |
|
|
R7057:C1ra
|
UTSW |
6 |
124,517,725 (GRCm38) |
missense |
probably benign |
|
|
R7094:C1ra
|
UTSW |
6 |
124,517,725 (GRCm38) |
missense |
probably benign |
|
|
R7468:C1ra
|
UTSW |
6 |
124,522,444 (GRCm38) |
nonsense |
probably null |
|
|
R7476:C1ra
|
UTSW |
6 |
124,522,699 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7478:C1ra
|
UTSW |
6 |
124,517,725 (GRCm38) |
missense |
probably benign |
|
|
R7479:C1ra
|
UTSW |
6 |
124,517,725 (GRCm38) |
missense |
probably benign |
|
|
R7481:C1ra
|
UTSW |
6 |
124,517,725 (GRCm38) |
missense |
probably benign |
|
|
R7512:C1ra
|
UTSW |
6 |
124,517,725 (GRCm38) |
missense |
probably benign |
|
|
R7725:C1ra
|
UTSW |
6 |
124,517,725 (GRCm38) |
missense |
probably benign |
|
|
R7728:C1ra
|
UTSW |
6 |
124,517,725 (GRCm38) |
missense |
probably benign |
|
|
R7730:C1ra
|
UTSW |
6 |
124,517,725 (GRCm38) |
missense |
probably benign |
|
|
R7818:C1ra
|
UTSW |
6 |
124,517,725 (GRCm38) |
missense |
probably benign |
|
|
R7819:C1ra
|
UTSW |
6 |
124,517,725 (GRCm38) |
missense |
probably benign |
|
|
R7835:C1ra
|
UTSW |
6 |
124,517,725 (GRCm38) |
missense |
probably benign |
|
|
R7854:C1ra
|
UTSW |
6 |
124,517,741 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7876:C1ra
|
UTSW |
6 |
124,517,725 (GRCm38) |
missense |
probably benign |
|
|
R7877:C1ra
|
UTSW |
6 |
124,517,725 (GRCm38) |
missense |
probably benign |
|
|
R7881:C1ra
|
UTSW |
6 |
124,517,725 (GRCm38) |
missense |
probably benign |
|
|
R7883:C1ra
|
UTSW |
6 |
124,517,725 (GRCm38) |
missense |
probably benign |
|
|
R7892:C1ra
|
UTSW |
6 |
124,519,415 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7899:C1ra
|
UTSW |
6 |
124,517,725 (GRCm38) |
missense |
probably benign |
|
|
R7901:C1ra
|
UTSW |
6 |
124,517,725 (GRCm38) |
missense |
probably benign |
|
|
R7902:C1ra
|
UTSW |
6 |
124,517,725 (GRCm38) |
missense |
probably benign |
|
|
R7903:C1ra
|
UTSW |
6 |
124,517,725 (GRCm38) |
missense |
probably benign |
|
|
R7947:C1ra
|
UTSW |
6 |
124,517,379 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8087:C1ra
|
UTSW |
6 |
124,513,872 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8098:C1ra
|
UTSW |
6 |
124,517,725 (GRCm38) |
missense |
probably benign |
|
|
R8099:C1ra
|
UTSW |
6 |
124,517,725 (GRCm38) |
missense |
probably benign |
|
|
R8271:C1ra
|
UTSW |
6 |
124,522,651 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8300:C1ra
|
UTSW |
6 |
124,521,638 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8824:C1ra
|
UTSW |
6 |
124,517,695 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9227:C1ra
|
UTSW |
6 |
124,516,780 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9248:C1ra
|
UTSW |
6 |
124,512,621 (GRCm38) |
start gained |
probably benign |
|
|
R9275:C1ra
|
UTSW |
6 |
124,517,424 (GRCm38) |
missense |
probably benign |
0.26 |
|
R9382:C1ra
|
UTSW |
6 |
124,513,860 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9477:C1ra
|
UTSW |
6 |
124,522,496 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0062:C1ra
|
UTSW |
6 |
124,522,439 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGCTTCCTGGGAAACTTGTG -3'
(R):5'- GAGGGCAGACAGATTGATTCTTC -3'
Sequencing Primer
(F):5'- ACTTGTGTTGAACATGGATGAGACC -3'
(R):5'- GCAGACAGATTGATTCTTCCAGCC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation