Incidental Mutation 'R7057:C1ra'
ID |
547980 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
C1ra
|
Ensembl Gene |
ENSMUSG00000055172 |
Gene Name |
complement component 1, r subcomponent A |
Synonyms |
mC1rA |
MMRRC Submission |
045154-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7057 (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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009J06Rik |
T |
A |
6: 40,945,181 (GRCm39) |
V220D |
probably benign |
Het |
Ankrd1 |
T |
C |
19: 36,095,633 (GRCm39) |
E113G |
possibly damaging |
Het |
Aqp12 |
T |
C |
1: 92,939,718 (GRCm39) |
L249P |
probably damaging |
Het |
Atg4a-ps |
A |
G |
3: 103,553,296 (GRCm39) |
F15S |
possibly damaging |
Het |
Bub1 |
T |
A |
2: 127,671,447 (GRCm39) |
M46L |
probably benign |
Het |
C2cd4d |
A |
G |
3: 94,270,800 (GRCm39) |
H22R |
probably benign |
Het |
Ccdc157 |
A |
G |
11: 4,094,586 (GRCm39) |
V480A |
probably benign |
Het |
Cdc42ep3 |
G |
A |
17: 79,642,952 (GRCm39) |
|
probably benign |
Het |
Cela1 |
T |
A |
15: 100,580,774 (GRCm39) |
T161S |
possibly damaging |
Het |
Chtf18 |
G |
T |
17: 25,940,100 (GRCm39) |
A697E |
possibly damaging |
Het |
Cr2 |
T |
C |
1: 194,833,918 (GRCm39) |
D957G |
possibly damaging |
Het |
Cyp2c40 |
A |
G |
19: 39,796,063 (GRCm39) |
V60A |
probably damaging |
Het |
Dazl |
CCATGATGGCGGC |
CC |
17: 50,600,434 (GRCm39) |
|
probably null |
Het |
Dock2 |
A |
T |
11: 34,177,684 (GRCm39) |
L1824Q |
probably benign |
Het |
Dock2 |
T |
C |
11: 34,586,044 (GRCm39) |
Y546C |
probably benign |
Het |
Focad |
G |
A |
4: 88,192,342 (GRCm39) |
C557Y |
unknown |
Het |
Ftmt |
T |
A |
18: 52,465,180 (GRCm39) |
N165K |
probably benign |
Het |
Gen1 |
A |
C |
12: 11,292,419 (GRCm39) |
S457A |
probably benign |
Het |
Gja1 |
T |
G |
10: 56,264,129 (GRCm39) |
S163A |
probably benign |
Het |
Gm8267 |
T |
C |
14: 44,959,481 (GRCm39) |
I194M |
probably damaging |
Het |
Golga3 |
T |
A |
5: 110,336,529 (GRCm39) |
S389R |
probably damaging |
Het |
Gpc5 |
C |
A |
14: 115,370,654 (GRCm39) |
Q87K |
possibly damaging |
Het |
Hmcn2 |
G |
A |
2: 31,312,661 (GRCm39) |
A3420T |
probably damaging |
Het |
Htt |
A |
G |
5: 34,979,067 (GRCm39) |
S817G |
probably null |
Het |
Hus1b |
C |
T |
13: 31,131,533 (GRCm39) |
C42Y |
possibly damaging |
Het |
Iars2 |
A |
G |
1: 185,021,564 (GRCm39) |
F913L |
probably benign |
Het |
Kcna4 |
A |
G |
2: 107,125,665 (GRCm39) |
E133G |
probably damaging |
Het |
Klhl36 |
T |
C |
8: 120,603,536 (GRCm39) |
L597P |
probably benign |
Het |
Ltv1 |
T |
C |
10: 13,056,646 (GRCm39) |
E299G |
possibly damaging |
Het |
Mmp12 |
A |
G |
9: 7,357,840 (GRCm39) |
Y348C |
probably damaging |
Het |
Mmp12 |
G |
A |
9: 7,369,173 (GRCm39) |
V270I |
probably benign |
Het |
Mmp2 |
A |
G |
8: 93,558,333 (GRCm39) |
D134G |
probably damaging |
Het |
Mrpl15 |
A |
T |
1: 4,846,865 (GRCm39) |
M237K |
probably benign |
Het |
Ms4a6b |
G |
T |
19: 11,504,253 (GRCm39) |
V177F |
possibly damaging |
Het |
Muc16 |
A |
G |
9: 18,557,375 (GRCm39) |
S2973P |
unknown |
Het |
Or1e30 |
A |
C |
11: 73,677,974 (GRCm39) |
D70A |
possibly damaging |
Het |
Or4c114 |
A |
C |
2: 88,904,808 (GRCm39) |
I209S |
possibly damaging |
Het |
Or5b120 |
G |
T |
19: 13,480,243 (GRCm39) |
D179Y |
probably damaging |
Het |
Or5b12b |
A |
T |
19: 12,862,006 (GRCm39) |
I254F |
probably damaging |
Het |
Or8b48 |
A |
T |
9: 38,493,050 (GRCm39) |
H159L |
probably damaging |
Het |
Pikfyve |
T |
A |
1: 65,286,364 (GRCm39) |
I1201K |
probably benign |
Het |
Plekhn1 |
T |
G |
4: 156,318,374 (GRCm39) |
M83L |
probably damaging |
Het |
Pnlip |
G |
T |
19: 58,664,695 (GRCm39) |
D212Y |
probably damaging |
Het |
Pomt2 |
T |
C |
12: 87,174,152 (GRCm39) |
N417S |
probably damaging |
Het |
Pxylp1 |
T |
A |
9: 96,707,103 (GRCm39) |
M360L |
probably benign |
Het |
Rbak |
G |
A |
5: 143,159,682 (GRCm39) |
T457I |
possibly damaging |
Het |
Runx2 |
A |
T |
17: 45,125,424 (GRCm39) |
W31R |
probably null |
Het |
Sec16a |
T |
A |
2: 26,315,277 (GRCm39) |
I1795F |
probably damaging |
Het |
Sik2 |
A |
T |
9: 50,909,861 (GRCm39) |
I64N |
probably damaging |
Het |
Slc26a8 |
T |
C |
17: 28,857,371 (GRCm39) |
E924G |
possibly damaging |
Het |
Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
Slc45a4 |
C |
A |
15: 73,459,487 (GRCm39) |
D174Y |
probably damaging |
Het |
Slc6a6 |
A |
C |
6: 91,718,248 (GRCm39) |
E354A |
probably damaging |
Het |
Slc8a1 |
A |
T |
17: 81,956,524 (GRCm39) |
S171R |
probably damaging |
Het |
Srgap1 |
T |
C |
10: 121,640,858 (GRCm39) |
I669M |
probably benign |
Het |
Stk39 |
C |
A |
2: 68,240,471 (GRCm39) |
A87S |
possibly damaging |
Het |
Tasor |
A |
T |
14: 27,183,608 (GRCm39) |
N689I |
probably damaging |
Het |
Tbx18 |
C |
A |
9: 87,587,317 (GRCm39) |
S600I |
possibly damaging |
Het |
Tesc |
A |
C |
5: 118,193,025 (GRCm39) |
K114Q |
probably damaging |
Het |
Tll1 |
T |
C |
8: 64,554,915 (GRCm39) |
D256G |
probably damaging |
Het |
Tmem35b |
T |
A |
4: 127,021,679 (GRCm39) |
I45K |
probably benign |
Het |
Tnks |
T |
C |
8: 35,307,168 (GRCm39) |
D1127G |
probably damaging |
Het |
Trpm8 |
A |
T |
1: 88,289,802 (GRCm39) |
D920V |
probably null |
Het |
U2af1 |
A |
T |
17: 31,867,831 (GRCm39) |
D79E |
probably benign |
Het |
Zfp704 |
T |
C |
3: 9,535,977 (GRCm39) |
D331G |
probably damaging |
Het |
Znrf3 |
G |
T |
11: 5,232,442 (GRCm39) |
P261Q |
probably benign |
Het |
Zscan4b |
A |
T |
7: 10,635,636 (GRCm39) |
C202* |
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 |
|
R7056: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'- AGCATGGCTTCCTGGGAAAC -3'
(R):5'- GGCAGACAGATTGATTCTTCCAG -3'
Sequencing Primer
(F):5'- ACTTGTGTTGAACATGGATGAGACC -3'
(R):5'- AGATTGATTCTTCCAGCCCCAAC -3'
|
Posted On |
2019-05-13 |