Incidental Mutation 'R7056:C1ra'
| ID |
547916 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C1ra
|
| Ensembl Gene |
ENSMUSG00000055172 |
| Gene Name |
complement component 1, r subcomponent A |
| Synonyms |
mC1rA |
| MMRRC Submission |
045153-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7056 (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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atr |
T |
A |
9: 95,744,916 (GRCm39) |
S78T |
probably damaging |
Het |
| B2m |
T |
C |
2: 121,981,465 (GRCm39) |
L60P |
probably damaging |
Het |
| Cep350 |
A |
C |
1: 155,724,373 (GRCm39) |
I3075S |
probably damaging |
Het |
| Cep97 |
A |
G |
16: 55,725,935 (GRCm39) |
S651P |
probably damaging |
Het |
| Chrna5 |
C |
T |
9: 54,888,985 (GRCm39) |
|
probably benign |
Het |
| Cog5 |
T |
C |
12: 31,715,468 (GRCm39) |
V80A |
possibly damaging |
Het |
| Col9a2 |
G |
A |
4: 120,906,913 (GRCm39) |
|
probably null |
Het |
| Cop1 |
C |
T |
1: 159,077,647 (GRCm39) |
L161F |
probably damaging |
Het |
| Cyp4f17 |
A |
T |
17: 32,746,846 (GRCm39) |
M383L |
possibly damaging |
Het |
| Dennd4a |
A |
G |
9: 64,814,205 (GRCm39) |
D1474G |
possibly damaging |
Het |
| Dgkb |
A |
C |
12: 38,150,492 (GRCm39) |
S100R |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,016,212 (GRCm39) |
V309A |
probably benign |
Het |
| Dner |
C |
A |
1: 84,558,457 (GRCm39) |
R169L |
possibly damaging |
Het |
| Dus1l |
T |
C |
11: 120,682,120 (GRCm39) |
E362G |
probably benign |
Het |
| Eed |
A |
T |
7: 89,619,564 (GRCm39) |
S168T |
possibly damaging |
Het |
| Eif3a |
T |
A |
19: 60,751,500 (GRCm39) |
|
probably null |
Het |
| Fam234b |
A |
G |
6: 135,205,450 (GRCm39) |
S472G |
probably benign |
Het |
| Fbn2 |
T |
A |
18: 58,209,798 (GRCm39) |
T1028S |
probably benign |
Het |
| Fbxw16 |
A |
G |
9: 109,265,352 (GRCm39) |
V393A |
possibly damaging |
Het |
| Fig4 |
A |
T |
10: 41,096,928 (GRCm39) |
L838Q |
probably benign |
Het |
| Gm13941 |
T |
G |
2: 110,927,147 (GRCm39) |
S137R |
unknown |
Het |
| Gm9938 |
T |
G |
19: 23,701,981 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
T |
G |
3: 59,238,501 (GRCm39) |
D560A |
probably damaging |
Het |
| Lrrk2 |
T |
A |
15: 91,659,198 (GRCm39) |
L1870* |
probably null |
Het |
| Mep1b |
T |
A |
18: 21,224,247 (GRCm39) |
Y347N |
probably damaging |
Het |
| Mepce |
T |
C |
5: 137,780,968 (GRCm39) |
N613D |
probably damaging |
Het |
| Mgat3 |
T |
G |
15: 80,096,097 (GRCm39) |
L308R |
probably damaging |
Het |
| Morc2a |
A |
G |
11: 3,625,925 (GRCm39) |
Y175C |
probably damaging |
Het |
| Necab2 |
A |
G |
8: 120,178,878 (GRCm39) |
N98S |
probably benign |
Het |
| Net1 |
T |
C |
13: 3,934,845 (GRCm39) |
M394V |
probably benign |
Het |
| Nfat5 |
G |
A |
8: 108,094,738 (GRCm39) |
G993D |
probably damaging |
Het |
| Obscn |
C |
A |
11: 58,887,122 (GRCm39) |
|
probably benign |
Het |
| Olr1 |
T |
C |
6: 129,465,904 (GRCm39) |
H34R |
probably damaging |
Het |
| Or2ab1 |
A |
G |
11: 58,489,044 (GRCm39) |
Y274C |
probably damaging |
Het |
| Or4f60 |
T |
C |
2: 111,902,662 (GRCm39) |
N89D |
probably benign |
Het |
| Pmm2 |
T |
A |
16: 8,460,628 (GRCm39) |
F27L |
probably damaging |
Het |
| Ptpdc1 |
C |
A |
13: 48,740,466 (GRCm39) |
V261F |
possibly damaging |
Het |
| Pyroxd1 |
G |
T |
6: 142,304,808 (GRCm39) |
R345L |
probably benign |
Het |
| Radil |
A |
T |
5: 142,480,109 (GRCm39) |
C670* |
probably null |
Het |
| Rasgrf2 |
C |
T |
13: 92,167,203 (GRCm39) |
S290N |
probably damaging |
Het |
| Rbm33 |
T |
C |
5: 28,599,001 (GRCm39) |
|
probably benign |
Het |
| Rnf111 |
A |
T |
9: 70,360,957 (GRCm39) |
S501R |
possibly damaging |
Het |
| Sel1l2 |
T |
A |
2: 140,087,334 (GRCm39) |
I446F |
probably benign |
Het |
| Sh3pxd2b |
T |
C |
11: 32,372,737 (GRCm39) |
S635P |
probably benign |
Het |
| Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,745,623 (GRCm39) |
|
probably benign |
Het |
| Sorcs2 |
C |
A |
5: 36,225,474 (GRCm39) |
D132Y |
probably damaging |
Het |
| Sox18 |
T |
C |
2: 181,313,280 (GRCm39) |
D12G |
probably damaging |
Het |
| Srsf4 |
G |
T |
4: 131,628,004 (GRCm39) |
|
probably benign |
Het |
| Susd4 |
C |
A |
1: 182,660,721 (GRCm39) |
T81N |
probably benign |
Het |
| Tmem256 |
G |
T |
11: 69,729,416 (GRCm39) |
|
probably benign |
Het |
| Tor4a |
T |
C |
2: 25,084,853 (GRCm39) |
H350R |
probably benign |
Het |
| Ugt2a3 |
T |
A |
5: 87,484,953 (GRCm39) |
S24C |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r77 |
C |
T |
7: 86,451,023 (GRCm39) |
T303I |
probably benign |
Het |
| Wdr70 |
T |
A |
15: 7,913,877 (GRCm39) |
I591F |
possibly damaging |
Het |
| Wdr93 |
T |
C |
7: 79,399,088 (GRCm39) |
I74T |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,809,784 (GRCm39) |
C1087S |
probably damaging |
Het |
| Zfp592 |
T |
A |
7: 80,673,067 (GRCm39) |
D10E |
probably damaging |
Het |
| Zfp69 |
A |
G |
4: 120,788,295 (GRCm39) |
V340A |
probably benign |
Het |
| Zswim2 |
C |
T |
2: 83,751,092 (GRCm39) |
|
probably null |
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 |
|
|
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'- CATGGCTTCCTGGGAAACTTG -3'
(R):5'- AGGGCAGACAGATTGATTCTTCC -3'
Sequencing Primer
(F):5'- ACTTGTGTTGAACATGGATGAGACC -3'
(R):5'- AGACAGATTGATTCTTCCAGCCC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation