Incidental Mutation 'R5228:C1rl'
ID |
402728 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
C1rl
|
Ensembl Gene |
ENSMUSG00000038527 |
Gene Name |
complement component 1, r subcomponent-like |
Synonyms |
C1rl1, C1r-LP |
MMRRC Submission |
042801-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5228 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
124470072-124487602 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 124485427 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 266
(A266V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042883
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049124]
[ENSMUST00000068593]
|
AlphaFold |
Q3UZ09 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049124
AA Change: A266V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000042883 Gene: ENSMUSG00000038527 AA Change: A266V
Domain | Start | End | E-Value | Type |
CUB
|
42 |
166 |
3.19e-18 |
SMART |
Tryp_SPc
|
239 |
474 |
1.25e-52 |
SMART |
|
Predicted Effect |
probably benign
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 |
0.3235 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn2 |
T |
C |
13: 12,303,545 (GRCm39) |
|
probably null |
Het |
Agrn |
G |
T |
4: 156,251,403 (GRCm39) |
A1864D |
probably damaging |
Het |
Ahnak2 |
A |
G |
12: 112,741,820 (GRCm39) |
S751P |
probably benign |
Het |
Aifm2 |
T |
C |
10: 61,568,196 (GRCm39) |
V201A |
probably damaging |
Het |
Clec2h |
G |
T |
6: 128,651,749 (GRCm39) |
A153S |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,476,768 (GRCm39) |
|
probably null |
Het |
Frmpd1 |
T |
C |
4: 45,284,322 (GRCm39) |
S1048P |
probably damaging |
Het |
Galnt16 |
A |
T |
12: 80,630,822 (GRCm39) |
D300V |
probably damaging |
Het |
Gbp8 |
G |
T |
5: 105,164,051 (GRCm39) |
Q416K |
probably benign |
Het |
Gldn |
C |
T |
9: 54,242,003 (GRCm39) |
T319I |
probably damaging |
Het |
Gli2 |
T |
A |
1: 118,763,936 (GRCm39) |
D1405V |
probably damaging |
Het |
Gtsf2 |
A |
G |
15: 103,353,042 (GRCm39) |
Y45H |
probably damaging |
Het |
Hmcn1 |
C |
A |
1: 150,522,452 (GRCm39) |
V3483F |
probably benign |
Het |
Hspa12b |
T |
C |
2: 130,984,884 (GRCm39) |
V385A |
possibly damaging |
Het |
Ibtk |
T |
C |
9: 85,608,742 (GRCm39) |
E390G |
possibly damaging |
Het |
Inpp4b |
C |
G |
8: 82,494,744 (GRCm39) |
P53R |
probably damaging |
Het |
Ipo7 |
T |
A |
7: 109,645,969 (GRCm39) |
C504S |
probably benign |
Het |
Iws1 |
A |
G |
18: 32,221,314 (GRCm39) |
D549G |
probably damaging |
Het |
Kcnh4 |
T |
C |
11: 100,637,722 (GRCm39) |
D645G |
probably damaging |
Het |
Klhl40 |
A |
G |
9: 121,606,867 (GRCm39) |
E9G |
probably benign |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Morc2a |
T |
C |
11: 3,635,439 (GRCm39) |
V810A |
probably damaging |
Het |
Myo1e |
C |
A |
9: 70,229,640 (GRCm39) |
|
probably null |
Het |
N4bp2 |
T |
C |
5: 65,964,861 (GRCm39) |
V970A |
probably benign |
Het |
Pira2 |
T |
A |
7: 3,847,373 (GRCm39) |
K105N |
probably benign |
Het |
Pml |
G |
A |
9: 58,127,280 (GRCm39) |
R61C |
probably damaging |
Het |
Pms2 |
T |
C |
5: 143,860,415 (GRCm39) |
L76P |
probably damaging |
Het |
Rlbp1 |
T |
G |
7: 79,027,082 (GRCm39) |
T193P |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sfi1 |
A |
ATCTTCCCAAAGCCAGTGG |
11: 3,103,384 (GRCm39) |
|
probably benign |
Homo |
Sh3rf2 |
T |
C |
18: 42,286,246 (GRCm39) |
S548P |
possibly damaging |
Het |
Slc4a4 |
A |
G |
5: 89,304,384 (GRCm39) |
D609G |
possibly damaging |
Het |
Slk |
A |
T |
19: 47,613,771 (GRCm39) |
I876F |
probably damaging |
Het |
Tcf20 |
G |
A |
15: 82,740,156 (GRCm39) |
P432S |
probably benign |
Het |
Tenm3 |
A |
C |
8: 48,689,390 (GRCm39) |
S2066A |
probably damaging |
Het |
Topors |
G |
C |
4: 40,262,367 (GRCm39) |
L306V |
probably damaging |
Het |
Trappc9 |
A |
T |
15: 72,929,844 (GRCm39) |
S171T |
probably damaging |
Het |
Ube2m |
G |
T |
7: 12,769,697 (GRCm39) |
|
probably benign |
Het |
Vmn1r37 |
T |
C |
6: 66,709,282 (GRCm39) |
*266Q |
probably null |
Het |
Vmn2r34 |
T |
C |
7: 7,675,340 (GRCm39) |
T683A |
probably damaging |
Het |
|
Other mutations in C1rl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02435:C1rl
|
APN |
6 |
124,485,832 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02549:C1rl
|
APN |
6 |
124,470,796 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL02581:C1rl
|
APN |
6 |
124,470,113 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02642:C1rl
|
APN |
6 |
124,470,806 (GRCm39) |
missense |
possibly damaging |
0.60 |
IGL02950:C1rl
|
APN |
6 |
124,485,820 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02980:C1rl
|
UTSW |
6 |
124,485,487 (GRCm39) |
missense |
probably benign |
0.00 |
R0699:C1rl
|
UTSW |
6 |
124,485,595 (GRCm39) |
missense |
probably benign |
0.14 |
R0848:C1rl
|
UTSW |
6 |
124,485,465 (GRCm39) |
missense |
probably benign |
0.29 |
R1221:C1rl
|
UTSW |
6 |
124,470,940 (GRCm39) |
missense |
probably benign |
0.43 |
R1654:C1rl
|
UTSW |
6 |
124,470,869 (GRCm39) |
missense |
probably damaging |
0.97 |
R1957:C1rl
|
UTSW |
6 |
124,486,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R2055:C1rl
|
UTSW |
6 |
124,470,781 (GRCm39) |
missense |
probably benign |
0.01 |
R2120:C1rl
|
UTSW |
6 |
124,485,672 (GRCm39) |
missense |
probably damaging |
0.99 |
R2262:C1rl
|
UTSW |
6 |
124,483,907 (GRCm39) |
missense |
probably damaging |
0.99 |
R2363:C1rl
|
UTSW |
6 |
124,486,069 (GRCm39) |
missense |
probably benign |
0.13 |
R3933:C1rl
|
UTSW |
6 |
124,485,781 (GRCm39) |
nonsense |
probably null |
|
R4824:C1rl
|
UTSW |
6 |
124,486,040 (GRCm39) |
nonsense |
probably null |
|
R5414:C1rl
|
UTSW |
6 |
124,485,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R6008:C1rl
|
UTSW |
6 |
124,470,147 (GRCm39) |
missense |
probably benign |
0.00 |
R6467:C1rl
|
UTSW |
6 |
124,485,535 (GRCm39) |
missense |
probably benign |
0.03 |
R6549:C1rl
|
UTSW |
6 |
124,485,487 (GRCm39) |
missense |
probably benign |
0.00 |
R6609:C1rl
|
UTSW |
6 |
124,485,583 (GRCm39) |
missense |
probably benign |
0.44 |
R6998:C1rl
|
UTSW |
6 |
124,485,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R7037:C1rl
|
UTSW |
6 |
124,485,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R8176:C1rl
|
UTSW |
6 |
124,470,844 (GRCm39) |
missense |
probably benign |
0.00 |
R8706:C1rl
|
UTSW |
6 |
124,470,191 (GRCm39) |
critical splice donor site |
probably null |
|
R9274:C1rl
|
UTSW |
6 |
124,485,483 (GRCm39) |
missense |
probably benign |
0.00 |
R9335:C1rl
|
UTSW |
6 |
124,482,341 (GRCm39) |
missense |
probably benign |
0.00 |
R9425:C1rl
|
UTSW |
6 |
124,485,322 (GRCm39) |
missense |
probably benign |
0.02 |
R9513:C1rl
|
UTSW |
6 |
124,485,802 (GRCm39) |
missense |
probably damaging |
0.96 |
R9516:C1rl
|
UTSW |
6 |
124,485,802 (GRCm39) |
missense |
probably damaging |
0.96 |
R9523:C1rl
|
UTSW |
6 |
124,484,054 (GRCm39) |
missense |
probably benign |
|
Z1088:C1rl
|
UTSW |
6 |
124,485,701 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGTCTCTAATCTAATCTCTCACGG -3'
(R):5'- GGACTCTCTGCTCAAGTTCC -3'
Sequencing Primer
(F):5'- AATCTAATCTCTCACGGTTGTTGATC -3'
(R):5'- TCTGCTCAAGTTCCAGGAGAG -3'
|
Posted On |
2016-07-22 |