Incidental Mutation 'IGL02435:C1rl'
ID |
293251 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
C1rl
|
Ensembl Gene |
ENSMUSG00000038527 |
Gene Name |
complement component 1, r subcomponent-like |
Synonyms |
C1rl1, C1r-LP |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02435
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
124470072-124487602 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 124485832 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 401
(L401P)
|
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: L401P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000042883 Gene: ENSMUSG00000038527 AA Change: L401P
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amph |
A |
G |
13: 19,323,333 (GRCm39) |
|
probably benign |
Het |
Ankrd12 |
G |
T |
17: 66,294,151 (GRCm39) |
S427R |
probably damaging |
Het |
Atp4a |
A |
G |
7: 30,416,482 (GRCm39) |
T420A |
probably benign |
Het |
Braf |
C |
T |
6: 39,623,700 (GRCm39) |
S414N |
probably benign |
Het |
Ecpas |
A |
G |
4: 58,830,325 (GRCm39) |
|
probably benign |
Het |
Elmo1 |
A |
T |
13: 20,773,826 (GRCm39) |
D612V |
probably damaging |
Het |
Fbxo15 |
T |
C |
18: 84,977,351 (GRCm39) |
S88P |
probably damaging |
Het |
Glrx3 |
A |
G |
7: 137,063,125 (GRCm39) |
N132S |
possibly damaging |
Het |
Hamp |
G |
T |
7: 30,643,324 (GRCm39) |
Q29K |
probably benign |
Het |
Igfbp2 |
G |
A |
1: 72,891,245 (GRCm39) |
R281Q |
probably damaging |
Het |
Itih3 |
C |
T |
14: 30,637,711 (GRCm39) |
A483T |
probably damaging |
Het |
Mrc1 |
C |
T |
2: 14,253,671 (GRCm39) |
Q231* |
probably null |
Het |
Nif3l1 |
A |
G |
1: 58,487,020 (GRCm39) |
T69A |
possibly damaging |
Het |
Ntrk1 |
A |
G |
3: 87,696,039 (GRCm39) |
F157S |
probably benign |
Het |
Or2ag1b |
A |
G |
7: 106,288,710 (GRCm39) |
V76A |
probably benign |
Het |
Or4a72 |
A |
G |
2: 89,405,890 (GRCm39) |
F60S |
probably damaging |
Het |
Or5b97 |
A |
T |
19: 12,878,391 (GRCm39) |
I251N |
probably damaging |
Het |
Pck2 |
T |
C |
14: 55,781,847 (GRCm39) |
|
probably benign |
Het |
Pdgfrb |
T |
C |
18: 61,197,998 (GRCm39) |
|
probably null |
Het |
Ric8b |
A |
G |
10: 84,815,940 (GRCm39) |
N194S |
probably benign |
Het |
Rlbp1 |
A |
G |
7: 79,031,414 (GRCm39) |
F105L |
probably damaging |
Het |
Sde2 |
G |
T |
1: 180,693,717 (GRCm39) |
K402N |
probably damaging |
Het |
Slc13a3 |
T |
C |
2: 165,250,860 (GRCm39) |
H461R |
possibly damaging |
Het |
Spag17 |
A |
T |
3: 99,889,760 (GRCm39) |
I210F |
possibly damaging |
Het |
Szt2 |
G |
A |
4: 118,248,020 (GRCm39) |
R735W |
probably damaging |
Het |
Tspan6 |
T |
C |
X: 132,793,493 (GRCm39) |
Y186C |
probably benign |
Het |
Ugt8a |
A |
G |
3: 125,660,969 (GRCm39) |
S508P |
probably benign |
Het |
Zfp217 |
T |
C |
2: 169,961,373 (GRCm39) |
D318G |
possibly damaging |
Het |
|
Other mutations in C1rl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
R5228:C1rl
|
UTSW |
6 |
124,485,427 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2015-04-16 |