Incidental Mutation 'R7728:C1ra'
| ID |
595626 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C1ra
|
| Ensembl Gene |
ENSMUSG00000055172 |
| Gene Name |
complement component 1, r subcomponent A |
| Synonyms |
mC1rA |
| MMRRC Submission |
045784-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7728 (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: 99.6%
- 20x: 99.0%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
G |
A |
9: 57,163,822 (GRCm39) |
P851S |
probably damaging |
Het |
| 2210408I21Rik |
T |
A |
13: 77,464,596 (GRCm39) |
L931Q |
possibly damaging |
Het |
| Abcg3 |
T |
G |
5: 105,083,944 (GRCm39) |
I609L |
probably benign |
Het |
| Acly |
A |
T |
11: 100,407,623 (GRCm39) |
F242L |
probably damaging |
Het |
| Acly |
C |
T |
11: 100,410,513 (GRCm39) |
G155D |
probably benign |
Het |
| Acsl5 |
T |
A |
19: 55,276,285 (GRCm39) |
L370* |
probably null |
Het |
| Arhgef17 |
G |
A |
7: 100,579,275 (GRCm39) |
P558S |
probably benign |
Het |
| Bhlha9 |
T |
A |
11: 76,563,915 (GRCm39) |
S181T |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,929,100 (GRCm39) |
T2331A |
probably benign |
Het |
| Ccdc7b |
A |
T |
8: 129,799,171 (GRCm39) |
R83W |
unknown |
Het |
| Churc1 |
T |
A |
12: 76,820,052 (GRCm39) |
N20K |
probably benign |
Het |
| Clec9a |
T |
C |
6: 129,392,198 (GRCm39) |
S63P |
possibly damaging |
Het |
| Cndp2 |
T |
A |
18: 84,690,202 (GRCm39) |
M247L |
probably benign |
Het |
| Cpvl |
C |
T |
6: 53,902,275 (GRCm39) |
S329N |
probably benign |
Het |
| Cracd |
T |
C |
5: 77,005,316 (GRCm39) |
V559A |
unknown |
Het |
| Csmd1 |
A |
T |
8: 16,281,285 (GRCm39) |
W747R |
probably damaging |
Het |
| Dhx40 |
A |
T |
11: 86,662,759 (GRCm39) |
D644E |
probably damaging |
Het |
| Disp2 |
A |
T |
2: 118,621,961 (GRCm39) |
N898Y |
probably benign |
Het |
| Dnah3 |
G |
A |
7: 119,538,051 (GRCm39) |
H666Y |
probably damaging |
Het |
| Dnajc2 |
C |
T |
5: 21,975,538 (GRCm39) |
D222N |
possibly damaging |
Het |
| Epha5 |
A |
T |
5: 84,215,267 (GRCm39) |
M826K |
possibly damaging |
Het |
| Fam13a |
T |
C |
6: 58,931,284 (GRCm39) |
D432G |
possibly damaging |
Het |
| Fkbp6 |
A |
G |
5: 135,368,398 (GRCm39) |
L276P |
probably damaging |
Het |
| Gars1 |
G |
T |
6: 55,027,371 (GRCm39) |
W155L |
probably damaging |
Het |
| Gm12258 |
C |
A |
11: 58,750,518 (GRCm39) |
H564Q |
unknown |
Het |
| Gm3127 |
A |
G |
14: 15,425,832 (GRCm39) |
D79G |
possibly damaging |
Het |
| H2-Q10 |
T |
A |
17: 35,781,735 (GRCm39) |
I119N |
probably damaging |
Het |
| Harbi1 |
A |
G |
2: 91,542,626 (GRCm39) |
D29G |
possibly damaging |
Het |
| Hp1bp3 |
T |
A |
4: 137,953,307 (GRCm39) |
M155K |
probably damaging |
Het |
| Itpr3 |
T |
G |
17: 27,317,088 (GRCm39) |
M781R |
probably damaging |
Het |
| Kat7 |
T |
C |
11: 95,190,907 (GRCm39) |
K101E |
probably benign |
Het |
| Kif7 |
A |
G |
7: 79,360,478 (GRCm39) |
I299T |
possibly damaging |
Het |
| Krt34 |
A |
G |
11: 99,930,811 (GRCm39) |
|
probably null |
Het |
| Krt81 |
A |
G |
15: 101,358,087 (GRCm39) |
Y389H |
probably damaging |
Het |
| Lrrc36 |
A |
T |
8: 106,176,130 (GRCm39) |
E168V |
probably benign |
Het |
| Lrrk1 |
A |
G |
7: 65,912,463 (GRCm39) |
V1699A |
probably benign |
Het |
| Mdh1b |
T |
A |
1: 63,754,429 (GRCm39) |
S380C |
probably benign |
Het |
| Mlkl |
A |
G |
8: 112,060,251 (GRCm39) |
L45P |
probably damaging |
Het |
| Mmp13 |
T |
A |
9: 7,274,004 (GRCm39) |
D159E |
probably benign |
Het |
| Nanp |
A |
G |
2: 150,872,835 (GRCm39) |
V31A |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,283,983 (GRCm39) |
S846P |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,073,311 (GRCm39) |
R5982C |
probably damaging |
Het |
| Nebl |
G |
T |
2: 17,375,325 (GRCm39) |
F93L |
|
Het |
| Or11h6 |
G |
A |
14: 50,879,849 (GRCm39) |
G31E |
probably benign |
Het |
| Pcdhb11 |
A |
T |
18: 37,556,530 (GRCm39) |
N620I |
probably damaging |
Het |
| Pcdhgb2 |
A |
G |
18: 37,824,260 (GRCm39) |
Y417C |
probably damaging |
Het |
| Pwp2 |
T |
C |
10: 78,014,395 (GRCm39) |
T402A |
probably benign |
Het |
| Ralgapb |
T |
C |
2: 158,324,423 (GRCm39) |
|
probably null |
Het |
| Rexo4 |
G |
A |
2: 26,854,242 (GRCm39) |
A30V |
probably benign |
Het |
| Rrs1 |
T |
A |
1: 9,616,623 (GRCm39) |
M292K |
possibly damaging |
Het |
| Shroom3 |
C |
A |
5: 92,831,566 (GRCm39) |
P14Q |
possibly damaging |
Het |
| Slc16a10 |
T |
A |
10: 39,916,754 (GRCm39) |
I383F |
probably damaging |
Het |
| Slco1a8 |
C |
A |
6: 141,933,436 (GRCm39) |
E470* |
probably null |
Het |
| Slk |
C |
A |
19: 47,609,255 (GRCm39) |
P736Q |
probably damaging |
Het |
| St6galnac2 |
T |
A |
11: 116,570,811 (GRCm39) |
H259L |
probably benign |
Het |
| Stambpl1 |
T |
G |
19: 34,213,721 (GRCm39) |
S317A |
possibly damaging |
Het |
| Syvn1 |
A |
G |
19: 6,101,235 (GRCm39) |
T429A |
unknown |
Het |
| Tbc1d9 |
A |
T |
8: 83,985,979 (GRCm39) |
E828V |
probably damaging |
Het |
| Tmtc2 |
A |
C |
10: 105,107,358 (GRCm39) |
|
probably null |
Het |
| Trmt11 |
A |
G |
10: 30,463,497 (GRCm39) |
I206T |
possibly damaging |
Het |
| Trp53bp1 |
A |
C |
2: 121,038,380 (GRCm39) |
L1436R |
probably damaging |
Het |
| Ttll5 |
C |
T |
12: 86,003,406 (GRCm39) |
R1095W |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,634,203 (GRCm39) |
F831S |
probably damaging |
Het |
| Vmn2r109 |
T |
A |
17: 20,773,117 (GRCm39) |
Q501H |
probably damaging |
Het |
| Zcchc17 |
A |
G |
4: 130,230,812 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
A |
G |
8: 109,678,201 (GRCm39) |
M3084V |
probably benign |
Het |
| Zfp81 |
T |
C |
17: 33,555,791 (GRCm39) |
N12S |
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 |
|
|
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'- CATGGCTTCCTGGGAAACTTG -3'
(R):5'- AGGGCAGACAGATTGATTCTTCC -3'
Sequencing Primer
(F):5'- ACTTGTGTTGAACATGGATGAGACC -3'
(R):5'- AGACAGATTGATTCTTCCAGCCC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation