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 |
124489580-124500399 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 124494684 bp (GRCm39)
|
| 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 |
|---|
| 4930407I10Rik |
A |
G |
15: 81,946,744 (GRCm39) |
T214A |
possibly damaging |
Het |
| A930009A15Rik |
G |
T |
10: 115,415,810 (GRCm39) |
|
probably benign |
Het |
| Aadac |
A |
C |
3: 59,944,757 (GRCm39) |
D143A |
probably benign |
Het |
| Acot10 |
T |
G |
15: 20,665,452 (GRCm39) |
T430P |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,865,253 (GRCm39) |
T197A |
possibly damaging |
Het |
| Bbs1 |
A |
G |
19: 4,950,643 (GRCm39) |
I200T |
probably damaging |
Het |
| Cadps |
G |
A |
14: 12,467,103 (GRCm38) |
A943V |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,838,673 (GRCm39) |
E48G |
probably damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,724,428 (GRCm39) |
C211S |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 76,890,073 (GRCm39) |
L1429P |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,273,790 (GRCm39) |
V2591A |
probably benign |
Het |
| Cul2 |
T |
G |
18: 3,421,263 (GRCm39) |
Y196D |
probably damaging |
Het |
| D630023F18Rik |
T |
C |
1: 65,156,365 (GRCm39) |
S43G |
probably benign |
Het |
| Ddx39a |
G |
A |
8: 84,449,766 (GRCm39) |
R427Q |
probably damaging |
Het |
| Def6 |
A |
G |
17: 28,442,691 (GRCm39) |
T285A |
probably damaging |
Het |
| Defb21 |
T |
A |
2: 152,416,789 (GRCm39) |
D88E |
probably benign |
Het |
| Defb6 |
A |
G |
8: 19,278,117 (GRCm39) |
K63R |
probably benign |
Het |
| Dnph1 |
T |
C |
17: 46,809,670 (GRCm39) |
S112P |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,564,407 (GRCm39) |
I467L |
probably benign |
Het |
| Dspp |
C |
A |
5: 104,323,716 (GRCm39) |
H286Q |
probably benign |
Het |
| Eya1 |
T |
A |
1: 14,253,501 (GRCm39) |
T459S |
probably benign |
Het |
| Faf1 |
T |
C |
4: 109,719,049 (GRCm39) |
L385P |
probably damaging |
Het |
| Fbxw21 |
C |
A |
9: 108,986,633 (GRCm39) |
R82L |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,222,437 (GRCm39) |
V2048A |
probably benign |
Het |
| Galnt5 |
A |
T |
2: 57,925,311 (GRCm39) |
D864V |
possibly damaging |
Het |
| Gata6 |
T |
G |
18: 11,054,460 (GRCm39) |
S130A |
possibly damaging |
Het |
| Gbf1 |
G |
T |
19: 46,250,946 (GRCm39) |
R434L |
probably damaging |
Het |
| Gga3 |
A |
G |
11: 115,476,588 (GRCm39) |
F709L |
probably damaging |
Het |
| Hcar1 |
A |
G |
5: 124,017,193 (GRCm39) |
V166A |
probably benign |
Het |
| Hexa |
T |
A |
9: 59,471,220 (GRCm39) |
N491K |
possibly damaging |
Het |
| Hpse2 |
A |
T |
19: 43,282,760 (GRCm39) |
C164* |
probably null |
Het |
| Ifi202b |
T |
C |
1: 173,802,555 (GRCm39) |
Y93C |
probably damaging |
Het |
| Iftap |
T |
C |
2: 101,396,804 (GRCm39) |
K192E |
probably benign |
Het |
| Iscu |
T |
A |
5: 113,913,304 (GRCm39) |
I79N |
probably damaging |
Het |
| Jmjd7 |
T |
A |
2: 119,861,804 (GRCm39) |
Y182* |
probably null |
Het |
| Jup |
A |
T |
11: 100,274,284 (GRCm39) |
D135E |
probably benign |
Het |
| Kit |
T |
A |
5: 75,813,468 (GRCm39) |
I881N |
probably damaging |
Het |
| Llgl1 |
T |
A |
11: 60,593,691 (GRCm39) |
S55T |
probably benign |
Het |
| Lonp2 |
G |
A |
8: 87,435,724 (GRCm39) |
M653I |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,711,517 (GRCm39) |
Y307H |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,169,622 (GRCm39) |
M1914K |
possibly damaging |
Het |
| Ms4a1 |
A |
G |
19: 11,230,537 (GRCm39) |
|
probably null |
Het |
| Naip1 |
A |
G |
13: 100,563,849 (GRCm39) |
S439P |
probably benign |
Het |
| Nrg1 |
T |
C |
8: 32,311,292 (GRCm39) |
R476G |
probably damaging |
Het |
| Or10ag59 |
T |
A |
2: 87,405,262 (GRCm39) |
|
probably null |
Het |
| Or7g20 |
G |
T |
9: 18,946,597 (GRCm39) |
M59I |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,729,026 (GRCm39) |
|
probably null |
Het |
| Phf12 |
G |
A |
11: 77,918,199 (GRCm39) |
G804R |
probably damaging |
Het |
| Pou6f2 |
T |
C |
13: 18,414,074 (GRCm39) |
T234A |
|
Het |
| Prune2 |
A |
T |
19: 17,097,954 (GRCm39) |
I1153L |
probably benign |
Het |
| Ptprc |
C |
T |
1: 137,995,623 (GRCm39) |
|
probably null |
Het |
| Qpctl |
T |
C |
7: 18,883,079 (GRCm39) |
Q11R |
probably benign |
Het |
| Rfx4 |
A |
G |
10: 84,676,092 (GRCm39) |
K103E |
possibly damaging |
Het |
| Srcin1 |
T |
A |
11: 97,442,806 (GRCm39) |
|
probably null |
Het |
| St6galnac1 |
G |
T |
11: 116,659,770 (GRCm39) |
A181D |
probably damaging |
Het |
| Stk36 |
T |
C |
1: 74,661,398 (GRCm39) |
V475A |
probably benign |
Het |
| Tbc1d21 |
T |
C |
9: 58,268,571 (GRCm39) |
T263A |
possibly damaging |
Het |
| Tex24 |
A |
T |
8: 27,835,028 (GRCm39) |
K185N |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,917,127 (GRCm39) |
V2174E |
possibly damaging |
Het |
| Tollip |
A |
G |
7: 141,444,582 (GRCm39) |
S57P |
probably benign |
Het |
| Zbtb49 |
A |
G |
5: 38,370,585 (GRCm39) |
|
probably benign |
Het |
| Zfp758 |
A |
G |
17: 22,580,650 (GRCm39) |
T30A |
probably benign |
Het |
|
| Other mutations in C1ra |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00555:C1ra
|
APN |
6 |
124,499,250 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03079:C1ra
|
APN |
6 |
124,496,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03151:C1ra
|
APN |
6 |
124,496,730 (GRCm39) |
missense |
probably benign |
0.09 |
|
innate
|
UTSW |
6 |
124,499,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
mueller-eberhardt
|
UTSW |
6 |
124,489,760 (GRCm39) |
critical splice donor site |
probably null |
|
|
pillemer
|
UTSW |
6 |
124,493,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0331:C1ra
|
UTSW |
6 |
124,496,394 (GRCm39) |
splice site |
probably null |
|
|
R0457:C1ra
|
UTSW |
6 |
124,499,712 (GRCm39) |
missense |
probably benign |
|
|
R0472:C1ra
|
UTSW |
6 |
124,494,403 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0570:C1ra
|
UTSW |
6 |
124,490,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0634:C1ra
|
UTSW |
6 |
124,494,464 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0661:C1ra
|
UTSW |
6 |
124,499,336 (GRCm39) |
missense |
probably benign |
|
|
R1451:C1ra
|
UTSW |
6 |
124,498,600 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1640:C1ra
|
UTSW |
6 |
124,499,233 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1698:C1ra
|
UTSW |
6 |
124,499,725 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4020:C1ra
|
UTSW |
6 |
124,496,736 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4801:C1ra
|
UTSW |
6 |
124,490,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4802:C1ra
|
UTSW |
6 |
124,490,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4909:C1ra
|
UTSW |
6 |
124,499,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5086:C1ra
|
UTSW |
6 |
124,496,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5108:C1ra
|
UTSW |
6 |
124,499,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5372:C1ra
|
UTSW |
6 |
124,498,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5421:C1ra
|
UTSW |
6 |
124,499,749 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5635:C1ra
|
UTSW |
6 |
124,493,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6438:C1ra
|
UTSW |
6 |
124,490,736 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6518:C1ra
|
UTSW |
6 |
124,498,534 (GRCm39) |
splice site |
probably null |
|
|
R6738:C1ra
|
UTSW |
6 |
124,494,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6804:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R6939:C1ra
|
UTSW |
6 |
124,489,760 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6981:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R6982:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7056:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7057:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7094:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7468:C1ra
|
UTSW |
6 |
124,499,403 (GRCm39) |
nonsense |
probably null |
|
|
R7476:C1ra
|
UTSW |
6 |
124,499,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7478:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7479:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7481:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7512:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7725:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7728:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7730:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7818:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7819:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7835:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7854:C1ra
|
UTSW |
6 |
124,494,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7876:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7877:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7881:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7883:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7892:C1ra
|
UTSW |
6 |
124,496,374 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7899:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7901:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7902:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7903:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R7947:C1ra
|
UTSW |
6 |
124,494,338 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8087:C1ra
|
UTSW |
6 |
124,490,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8098:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R8099:C1ra
|
UTSW |
6 |
124,494,684 (GRCm39) |
missense |
probably benign |
|
|
R8271:C1ra
|
UTSW |
6 |
124,499,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8300:C1ra
|
UTSW |
6 |
124,498,597 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8824:C1ra
|
UTSW |
6 |
124,494,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9227:C1ra
|
UTSW |
6 |
124,493,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9248:C1ra
|
UTSW |
6 |
124,489,580 (GRCm39) |
start gained |
probably benign |
|
|
R9275:C1ra
|
UTSW |
6 |
124,494,383 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9382:C1ra
|
UTSW |
6 |
124,490,819 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9477:C1ra
|
UTSW |
6 |
124,499,455 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0062:C1ra
|
UTSW |
6 |
124,499,398 (GRCm39) |
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