Incidental Mutation 'R7877:C1ra'
| ID |
608501 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C1ra
|
| Ensembl Gene |
ENSMUSG00000055172 |
| Gene Name |
complement component 1, r subcomponent A |
| Synonyms |
mC1rA |
| MMRRC Submission |
045929-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7877 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
G |
A |
17: 9,220,665 (GRCm39) |
C388Y |
probably damaging |
Het |
| 4930522L14Rik |
G |
A |
5: 109,884,230 (GRCm39) |
H543Y |
probably damaging |
Het |
| Abca1 |
A |
T |
4: 53,046,135 (GRCm39) |
V1711E |
possibly damaging |
Het |
| Abca3 |
A |
T |
17: 24,602,997 (GRCm39) |
K531* |
probably null |
Het |
| Adgrf5 |
A |
T |
17: 43,752,729 (GRCm39) |
D557V |
possibly damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,842,467 (GRCm39) |
E865G |
probably benign |
Het |
| Adprhl1 |
T |
A |
8: 13,275,316 (GRCm39) |
R481* |
probably null |
Het |
| Afap1l1 |
T |
A |
18: 61,879,853 (GRCm39) |
D339V |
probably damaging |
Het |
| Atp9b |
T |
A |
18: 80,890,412 (GRCm39) |
H309L |
|
Het |
| Baiap3 |
A |
G |
17: 25,470,112 (GRCm39) |
V122A |
probably damaging |
Het |
| Btg4 |
T |
C |
9: 51,029,240 (GRCm39) |
S142P |
probably benign |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cdca2 |
T |
A |
14: 67,914,665 (GRCm39) |
T865S |
probably benign |
Het |
| Cdk12 |
A |
G |
11: 98,131,661 (GRCm39) |
Y964C |
unknown |
Het |
| Cenpo |
A |
T |
12: 4,264,573 (GRCm39) |
F273Y |
probably damaging |
Het |
| Cfap96 |
T |
A |
8: 46,423,436 (GRCm39) |
K92M |
probably damaging |
Het |
| Chac1 |
T |
A |
2: 119,183,987 (GRCm39) |
D196E |
probably damaging |
Het |
| Clec4n |
T |
C |
6: 123,209,063 (GRCm39) |
F43L |
probably benign |
Het |
| Colgalt1 |
T |
A |
8: 72,074,508 (GRCm39) |
C407S |
probably damaging |
Het |
| Csnk1g1 |
T |
A |
9: 65,906,830 (GRCm39) |
|
probably null |
Het |
| Cyp2b23 |
T |
A |
7: 26,385,851 (GRCm39) |
E2V |
probably damaging |
Het |
| Cyp51 |
T |
A |
5: 4,152,929 (GRCm39) |
K91M |
probably damaging |
Het |
| Cyria |
A |
C |
12: 12,414,798 (GRCm39) |
Y263S |
probably benign |
Het |
| Dnah8 |
G |
T |
17: 30,882,348 (GRCm39) |
G640V |
probably benign |
Het |
| Dnajc2 |
G |
T |
5: 21,965,637 (GRCm39) |
S505R |
possibly damaging |
Het |
| Fam124b |
A |
T |
1: 80,191,053 (GRCm39) |
L110H |
probably damaging |
Het |
| Fem1b |
T |
A |
9: 62,703,844 (GRCm39) |
Y472F |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,932,049 (GRCm39) |
|
probably null |
Het |
| Gabrg1 |
A |
T |
5: 70,973,415 (GRCm39) |
D46E |
probably damaging |
Het |
| Gbp4 |
T |
C |
5: 105,266,161 (GRCm39) |
K627E |
probably benign |
Het |
| Glis1 |
A |
G |
4: 107,491,900 (GRCm39) |
D776G |
probably damaging |
Het |
| Gm4847 |
A |
G |
1: 166,467,575 (GRCm39) |
V207A |
possibly damaging |
Het |
| Gm7298 |
T |
A |
6: 121,759,741 (GRCm39) |
Y1213* |
probably null |
Het |
| Gm8229 |
T |
A |
14: 44,604,033 (GRCm39) |
L74* |
probably null |
Het |
| Hc |
A |
T |
2: 34,887,411 (GRCm39) |
Y1364* |
probably null |
Het |
| Hnrnpa2b1 |
A |
T |
6: 51,443,302 (GRCm39) |
S186R |
unknown |
Het |
| Hrh4 |
A |
G |
18: 13,155,582 (GRCm39) |
I374V |
possibly damaging |
Het |
| Ighmbp2 |
A |
G |
19: 3,311,490 (GRCm39) |
L975P |
probably damaging |
Het |
| Intu |
G |
A |
3: 40,654,222 (GRCm39) |
V905I |
probably benign |
Het |
| Large1 |
T |
A |
8: 73,843,071 (GRCm39) |
R151W |
probably damaging |
Het |
| Limd2 |
G |
A |
11: 106,050,004 (GRCm39) |
T24M |
probably benign |
Het |
| Med16 |
A |
T |
10: 79,734,206 (GRCm39) |
C569* |
probably null |
Het |
| Mettl1 |
T |
G |
10: 126,880,390 (GRCm39) |
V104G |
possibly damaging |
Het |
| Mgat4c |
A |
G |
10: 102,220,900 (GRCm39) |
T61A |
probably benign |
Het |
| Mrps31 |
T |
A |
8: 22,914,367 (GRCm39) |
Y238N |
probably benign |
Het |
| Mrs2 |
T |
C |
13: 25,181,113 (GRCm39) |
E236G |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Noxred1 |
G |
A |
12: 87,271,761 (GRCm39) |
A136V |
probably benign |
Het |
| Obscn |
T |
A |
11: 59,024,588 (GRCm39) |
D484V |
probably damaging |
Het |
| Picalm |
C |
A |
7: 89,779,876 (GRCm39) |
H32Q |
probably benign |
Het |
| Pik3r5 |
G |
A |
11: 68,381,431 (GRCm39) |
G206R |
probably damaging |
Het |
| Plekhh2 |
G |
A |
17: 84,882,434 (GRCm39) |
C680Y |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,300,241 (GRCm39) |
F1614S |
probably damaging |
Het |
| Ppip5k1 |
T |
C |
2: 121,147,235 (GRCm39) |
M1129V |
probably benign |
Het |
| Prp2 |
C |
T |
6: 132,572,928 (GRCm39) |
T7I |
unknown |
Het |
| Rrbp1 |
A |
T |
2: 143,789,815 (GRCm39) |
|
probably benign |
Het |
| Sdhaf3 |
C |
T |
6: 7,038,855 (GRCm39) |
T59M |
probably benign |
Het |
| Slc17a6 |
T |
A |
7: 51,275,253 (GRCm39) |
I104N |
probably benign |
Het |
| Slc35c1 |
A |
T |
2: 92,289,402 (GRCm39) |
W48R |
probably damaging |
Het |
| Slc5a4b |
A |
T |
10: 75,910,886 (GRCm39) |
C317S |
probably damaging |
Het |
| Smim13 |
G |
T |
13: 41,403,650 (GRCm39) |
|
probably benign |
Het |
| Snrpg |
T |
C |
6: 86,355,761 (GRCm39) |
V76A |
probably benign |
Het |
| Sntb2 |
C |
T |
8: 107,738,164 (GRCm39) |
T509I |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,079,601 (GRCm39) |
D1276G |
possibly damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,794,290 (GRCm39) |
E1498G |
possibly damaging |
Het |
| Stau1 |
T |
A |
2: 166,792,787 (GRCm39) |
N393Y |
possibly damaging |
Het |
| Tars2 |
A |
T |
3: 95,653,401 (GRCm39) |
S500T |
probably damaging |
Het |
| Tbc1d23 |
A |
T |
16: 56,993,488 (GRCm39) |
D559E |
probably benign |
Het |
| Trav14-2 |
T |
C |
14: 53,878,508 (GRCm39) |
Y64H |
possibly damaging |
Het |
| Trpm3 |
A |
C |
19: 22,882,148 (GRCm39) |
E838D |
probably benign |
Het |
| Vmn1r23 |
G |
A |
6: 57,903,541 (GRCm39) |
A79V |
probably benign |
Het |
| Vmn1r48 |
G |
T |
6: 90,013,431 (GRCm39) |
N131K |
probably benign |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,437 (GRCm39) |
M229K |
probably damaging |
Het |
| Zbtb4 |
G |
A |
11: 69,666,863 (GRCm39) |
R56K |
probably benign |
Het |
| Zfp616 |
G |
T |
11: 73,975,188 (GRCm39) |
G486W |
probably damaging |
Het |
| Zkscan8 |
A |
T |
13: 21,704,580 (GRCm39) |
F453Y |
possibly damaging |
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 |
|
|
R6805: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 |
|
|
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'- AGCATGGCTTCCTGGGAAAC -3'
(R):5'- GGGCAGACAGATTGATTCTTCCAG -3'
Sequencing Primer
(F):5'- ACTTGTGTTGAACATGGATGAGACC -3'
(R):5'- AGATTGATTCTTCCAGCCCCAAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation