Incidental Mutation 'R6939:C1ra'
| ID |
540424 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C1ra
|
| Ensembl Gene |
ENSMUSG00000055172 |
| Gene Name |
complement component 1, r subcomponent A |
| Synonyms |
mC1rA |
| MMRRC Submission |
045053-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6939 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124489580-124500399 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 124489760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049124]
[ENSMUST00000068593]
|
| AlphaFold |
Q8CG16 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049124
|
| SMART Domains |
Protein: ENSMUSP00000042883
Gene: ENSMUSG00000038527
| Domain | Start | End | E-Value | Type |
|---|
|
CUB
|
42 |
166 |
3.19e-18 |
SMART |
|
Tryp_SPc
|
239 |
474 |
1.25e-52 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000068593
|
| SMART Domains |
Protein: ENSMUSP00000063707
Gene: ENSMUSG00000055172
| 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 |
0.9482 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
| Validation Efficiency |
99% (66/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
G |
A |
15: 60,792,244 (GRCm39) |
P128L |
probably damaging |
Het |
| Acsm3 |
T |
C |
7: 119,377,678 (GRCm39) |
V401A |
probably damaging |
Het |
| Arhgef11 |
C |
A |
3: 87,594,227 (GRCm39) |
N93K |
probably damaging |
Het |
| Camk2a |
A |
G |
18: 61,091,226 (GRCm39) |
E236G |
probably damaging |
Het |
| Cav2 |
C |
A |
6: 17,281,410 (GRCm39) |
D17E |
possibly damaging |
Het |
| Ccdc149 |
T |
C |
5: 52,533,607 (GRCm39) |
S520G |
probably benign |
Het |
| Chd4 |
C |
A |
6: 125,083,501 (GRCm39) |
H674Q |
probably damaging |
Het |
| Clrn2 |
A |
T |
5: 45,611,096 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
A |
C |
11: 101,077,337 (GRCm39) |
I1000L |
probably damaging |
Het |
| Cyp2c67 |
T |
C |
19: 39,631,778 (GRCm39) |
T140A |
possibly damaging |
Het |
| D7Ertd443e |
T |
C |
7: 133,966,208 (GRCm39) |
|
probably null |
Het |
| Dcdc2c |
G |
T |
12: 28,591,496 (GRCm39) |
Q131K |
probably benign |
Het |
| Dmpk |
T |
A |
7: 18,822,149 (GRCm39) |
V369E |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 118,070,297 (GRCm39) |
W1503R |
probably damaging |
Het |
| Dnai7 |
A |
G |
6: 145,120,945 (GRCm39) |
F625L |
possibly damaging |
Het |
| Dok2 |
T |
C |
14: 71,013,045 (GRCm39) |
V71A |
probably benign |
Het |
| Dqx1 |
A |
T |
6: 83,036,446 (GRCm39) |
Q150L |
probably damaging |
Het |
| Extl3 |
A |
G |
14: 65,304,189 (GRCm39) |
I740T |
possibly damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fat2 |
C |
T |
11: 55,143,300 (GRCm39) |
W4183* |
probably null |
Het |
| Fkrp |
C |
T |
7: 16,545,751 (GRCm39) |
R37Q |
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,341,774 (GRCm39) |
K1356E |
probably benign |
Het |
| Fus |
A |
T |
7: 127,571,741 (GRCm39) |
|
probably benign |
Het |
| Gabarapl2 |
C |
A |
8: 112,669,201 (GRCm39) |
S53* |
probably null |
Het |
| Gjd3 |
A |
C |
11: 102,691,733 (GRCm39) |
M90R |
probably damaging |
Het |
| Gm30083 |
C |
T |
14: 33,725,557 (GRCm39) |
|
probably null |
Het |
| Gm7356 |
T |
A |
17: 14,221,387 (GRCm39) |
Y214F |
probably benign |
Het |
| Hexd |
A |
T |
11: 121,113,164 (GRCm39) |
D533V |
probably benign |
Het |
| Ift172 |
G |
A |
5: 31,414,930 (GRCm39) |
A1364V |
probably damaging |
Het |
| Ighmbp2 |
A |
T |
19: 3,326,907 (GRCm39) |
F186Y |
probably damaging |
Het |
| Inpp5e |
C |
A |
2: 26,297,774 (GRCm39) |
|
probably null |
Het |
| Iqcb1 |
A |
G |
16: 36,660,274 (GRCm39) |
T146A |
possibly damaging |
Het |
| Kcnmb2 |
A |
G |
3: 32,252,465 (GRCm39) |
Y222C |
probably damaging |
Het |
| Kdm6b |
A |
G |
11: 69,297,588 (GRCm39) |
W284R |
probably damaging |
Het |
| Khdc4 |
T |
A |
3: 88,593,824 (GRCm39) |
M71K |
probably damaging |
Het |
| Ksr2 |
T |
A |
5: 117,903,626 (GRCm39) |
*952R |
probably null |
Het |
| Ldlrap1 |
C |
A |
4: 134,495,285 (GRCm39) |
|
probably benign |
Het |
| Mpdu1 |
G |
A |
11: 69,548,881 (GRCm39) |
|
probably benign |
Het |
| Mrgprh |
A |
T |
17: 13,095,822 (GRCm39) |
T21S |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,549,833 (GRCm39) |
T5487S |
probably benign |
Het |
| Mydgf |
A |
G |
17: 56,490,737 (GRCm39) |
|
probably null |
Het |
| Napa |
T |
C |
7: 15,849,182 (GRCm39) |
C241R |
possibly damaging |
Het |
| Or10ab4 |
C |
A |
7: 107,654,312 (GRCm39) |
A41E |
possibly damaging |
Het |
| Or10n7-ps1 |
T |
C |
9: 39,598,187 (GRCm39) |
T18A |
possibly damaging |
Het |
| Or5k17 |
A |
T |
16: 58,746,648 (GRCm39) |
Y95* |
probably null |
Het |
| Pla2g4f |
A |
T |
2: 120,137,782 (GRCm39) |
L326Q |
probably damaging |
Het |
| Pramel16 |
T |
C |
4: 143,675,366 (GRCm39) |
T487A |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,787,291 (GRCm39) |
Y1029N |
probably damaging |
Het |
| Ptprj |
T |
C |
2: 90,289,858 (GRCm39) |
T707A |
possibly damaging |
Het |
| Raet1e |
T |
A |
10: 22,050,256 (GRCm39) |
M13K |
possibly damaging |
Het |
| Rftn2 |
T |
C |
1: 55,233,508 (GRCm39) |
|
probably null |
Het |
| Rmi1 |
A |
G |
13: 58,557,169 (GRCm39) |
I473V |
probably benign |
Het |
| Rps6ka4 |
A |
G |
19: 6,815,437 (GRCm39) |
F186L |
probably damaging |
Het |
| Ryr1 |
T |
A |
7: 28,751,751 (GRCm39) |
M3672L |
possibly damaging |
Het |
| Smarca5 |
A |
T |
8: 81,431,949 (GRCm39) |
C890S |
possibly damaging |
Het |
| Spata31d1e |
T |
A |
13: 59,889,872 (GRCm39) |
K231N |
possibly damaging |
Het |
| Tdrd12 |
C |
T |
7: 35,185,024 (GRCm39) |
|
probably null |
Het |
| Tecta |
T |
C |
9: 42,259,293 (GRCm39) |
N1530S |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Tmem94 |
A |
G |
11: 115,676,656 (GRCm39) |
S54G |
possibly damaging |
Het |
| Tnk2 |
T |
C |
16: 32,482,696 (GRCm39) |
V41A |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,918,045 (GRCm39) |
T462A |
probably benign |
Het |
| Tsg101 |
T |
C |
7: 46,556,847 (GRCm39) |
T61A |
probably benign |
Het |
| Usp42 |
T |
C |
5: 143,713,724 (GRCm39) |
N17D |
probably damaging |
Het |
| Zfp607a |
T |
A |
7: 27,578,473 (GRCm39) |
C514* |
probably null |
Het |
| Zfp866 |
G |
T |
8: 70,218,871 (GRCm39) |
Q250K |
probably 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 |
|
|
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'- CCAGCAAGCAACGAGGATTTC -3'
(R):5'- ACCCTGAGAAGTATGTGCTCTGG -3'
Sequencing Primer
(F):5'- GCAAGCAACGAGGATTTCAAAAC -3'
(R):5'- AAGTAATATGGGCGCATG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation