Incidental Mutation 'R5108:C1ra'
| ID |
393669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C1ra
|
| Ensembl Gene |
ENSMUSG00000055172 |
| Gene Name |
complement component 1, r subcomponent A |
| Synonyms |
mC1rA |
| MMRRC Submission |
042696-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5108 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124489580-124500399 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 124499881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 689
(Y689F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068593]
|
| AlphaFold |
Q8CG16 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068593
AA Change: Y689F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063707
Gene: ENSMUSG00000055172
AA Change: Y689F
| 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 |
0.5457 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
| Validation Efficiency |
99% (79/80) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,094,207 (GRCm39) |
N94Y |
probably damaging |
Het |
| Ak2 |
A |
G |
4: 128,896,034 (GRCm39) |
T104A |
probably damaging |
Het |
| Alox12b |
G |
T |
11: 69,048,208 (GRCm39) |
A46S |
probably benign |
Het |
| Ank1 |
G |
T |
8: 23,622,571 (GRCm39) |
V1662F |
probably benign |
Het |
| Anxa3 |
T |
C |
5: 96,978,273 (GRCm39) |
I219T |
possibly damaging |
Het |
| Aoc1l3 |
C |
T |
6: 48,965,504 (GRCm39) |
T504I |
probably damaging |
Het |
| Arhgap40 |
G |
A |
2: 158,389,599 (GRCm39) |
V588M |
probably damaging |
Het |
| Arhgef38 |
T |
C |
3: 132,843,029 (GRCm39) |
T514A |
probably benign |
Het |
| Ascl4 |
C |
A |
10: 85,764,422 (GRCm39) |
A23E |
probably benign |
Het |
| Bcl11b |
T |
C |
12: 107,931,985 (GRCm39) |
T196A |
probably benign |
Het |
| Ccr3 |
A |
G |
9: 123,828,968 (GRCm39) |
N101S |
probably benign |
Het |
| Cep70 |
A |
T |
9: 99,145,865 (GRCm39) |
|
probably null |
Het |
| Ces1b |
A |
G |
8: 93,798,541 (GRCm39) |
V215A |
probably damaging |
Het |
| Cndp1 |
A |
T |
18: 84,650,186 (GRCm39) |
I169N |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Fbxo2 |
A |
G |
4: 148,250,486 (GRCm39) |
Q275R |
probably damaging |
Het |
| Fbxo44 |
T |
C |
4: 148,243,020 (GRCm39) |
N133S |
probably damaging |
Het |
| Fzr1 |
C |
T |
10: 81,205,284 (GRCm39) |
|
probably benign |
Het |
| Grn |
T |
C |
11: 102,325,228 (GRCm39) |
S213P |
probably benign |
Het |
| Ifi203 |
A |
T |
1: 173,751,580 (GRCm39) |
C414S |
probably damaging |
Het |
| Igfn1 |
C |
T |
1: 135,910,179 (GRCm39) |
R135H |
probably benign |
Het |
| Kcnk10 |
T |
C |
12: 98,401,560 (GRCm39) |
M358V |
probably benign |
Het |
| Kcnn2 |
A |
T |
18: 45,725,122 (GRCm39) |
Y471F |
probably damaging |
Het |
| Klhl20 |
A |
T |
1: 160,926,820 (GRCm39) |
V391E |
probably damaging |
Het |
| Krt1c |
C |
T |
15: 101,721,721 (GRCm39) |
G440D |
possibly damaging |
Het |
| Lpin1 |
A |
T |
12: 16,623,716 (GRCm39) |
Y223N |
probably benign |
Het |
| Luzp2 |
G |
A |
7: 54,915,038 (GRCm39) |
C321Y |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,338,536 (GRCm39) |
V1388A |
probably benign |
Het |
| Mdga2 |
A |
T |
12: 66,533,515 (GRCm39) |
H223Q |
probably benign |
Het |
| Mgat4e |
G |
T |
1: 134,468,961 (GRCm39) |
P361Q |
probably benign |
Het |
| Mylk3 |
A |
T |
8: 86,085,721 (GRCm39) |
I208N |
possibly damaging |
Het |
| Myom2 |
T |
A |
8: 15,182,667 (GRCm39) |
V1368E |
probably damaging |
Het |
| Mypn |
C |
T |
10: 62,972,073 (GRCm39) |
D656N |
probably damaging |
Het |
| Nat10 |
C |
A |
2: 103,562,548 (GRCm39) |
R596L |
probably damaging |
Het |
| Nek8 |
T |
C |
11: 78,063,353 (GRCm39) |
D137G |
probably damaging |
Het |
| Neurl1a |
A |
G |
19: 47,246,074 (GRCm39) |
K552E |
probably damaging |
Het |
| Npdc1 |
C |
T |
2: 25,298,667 (GRCm39) |
H260Y |
probably damaging |
Het |
| Nuggc |
A |
T |
14: 65,876,129 (GRCm39) |
I581F |
probably damaging |
Het |
| Or8d23 |
T |
A |
9: 38,842,151 (GRCm39) |
I228N |
probably damaging |
Het |
| P2rx6 |
T |
C |
16: 17,380,037 (GRCm39) |
Y54H |
probably damaging |
Het |
| Pcmtd2 |
A |
G |
2: 181,486,216 (GRCm39) |
E112G |
probably damaging |
Het |
| Pcnx4 |
G |
A |
12: 72,620,855 (GRCm39) |
V892I |
probably benign |
Het |
| Pdss1 |
T |
A |
2: 22,796,895 (GRCm39) |
V136E |
possibly damaging |
Het |
| Pias3 |
T |
C |
3: 96,612,253 (GRCm39) |
L561P |
possibly damaging |
Het |
| Pomgnt1 |
G |
A |
4: 116,013,453 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
C |
T |
2: 65,518,974 (GRCm39) |
T400I |
probably damaging |
Het |
| Sec24d |
T |
A |
3: 123,099,434 (GRCm39) |
|
probably null |
Het |
| Sftpb |
T |
G |
6: 72,281,640 (GRCm39) |
L11R |
probably damaging |
Het |
| Slc22a19 |
A |
G |
19: 7,688,536 (GRCm39) |
I8T |
probably benign |
Het |
| Slc22a30 |
A |
G |
19: 8,363,790 (GRCm39) |
S266P |
probably damaging |
Het |
| Slc36a2 |
C |
A |
11: 55,050,214 (GRCm39) |
G465W |
probably damaging |
Het |
| Slc4a2 |
G |
A |
5: 24,644,331 (GRCm39) |
M976I |
probably damaging |
Het |
| Smcr8 |
C |
T |
11: 60,670,696 (GRCm39) |
Q615* |
probably null |
Het |
| Sobp |
T |
C |
10: 43,036,815 (GRCm39) |
E41G |
probably damaging |
Het |
| Spopfm1 |
C |
T |
3: 94,173,142 (GRCm39) |
S50L |
probably damaging |
Het |
| Spz1 |
A |
T |
13: 92,711,554 (GRCm39) |
C307* |
probably null |
Het |
| Sult1d1 |
C |
T |
5: 87,711,728 (GRCm39) |
|
probably null |
Het |
| Tas2r110 |
T |
C |
6: 132,845,668 (GRCm39) |
M233T |
probably damaging |
Het |
| Tmc3 |
C |
A |
7: 83,269,156 (GRCm39) |
S781R |
probably damaging |
Het |
| Tmem234 |
G |
T |
4: 129,495,730 (GRCm39) |
|
probably benign |
Het |
| Trpm3 |
A |
T |
19: 22,882,078 (GRCm39) |
Q645L |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,565,055 (GRCm39) |
V28391F |
probably damaging |
Het |
| Txnrd3 |
G |
T |
6: 89,650,016 (GRCm39) |
A425S |
probably benign |
Het |
| Ubr1 |
C |
T |
2: 120,793,903 (GRCm39) |
G94R |
probably benign |
Het |
| Ufl1 |
A |
G |
4: 25,269,026 (GRCm39) |
|
probably null |
Het |
| Utp20 |
T |
C |
10: 88,604,735 (GRCm39) |
D1720G |
probably benign |
Het |
| Vmn1r13 |
T |
A |
6: 57,186,901 (GRCm39) |
M20K |
probably benign |
Het |
| Vmn1r61 |
A |
G |
7: 5,613,519 (GRCm39) |
I265T |
probably benign |
Het |
| Zfp120 |
T |
C |
2: 149,961,862 (GRCm39) |
T29A |
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 |
|
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 |
|
|
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'- GTTCGTCAGACTGCCTGTAG -3'
(R):5'- CCATAACGTTGATGGGATTACAG -3'
Sequencing Primer
(F):5'- TCAGACTGCCTGTAGCTGAC -3'
(R):5'- GAGAGTTTATTCTATACACGTTCTGC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation