Incidental Mutation 'IGL02581:C1rl'
| ID |
299350 |
| 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 # |
IGL02581
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
124470072-124487602 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124470113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 2
(S2P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042883
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049124]
|
| AlphaFold |
Q3UZ09 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049124
AA Change: S2P
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000042883
Gene: ENSMUSG00000038527
AA Change: S2P
| Domain | Start | End | E-Value | Type |
|---|
|
CUB
|
42 |
166 |
3.19e-18 |
SMART |
|
Tryp_SPc
|
239 |
474 |
1.25e-52 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203171
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034H15Rik |
A |
G |
1: 191,635,652 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
C |
T |
11: 9,349,132 (GRCm39) |
|
probably benign |
Het |
| Aga |
T |
C |
8: 53,974,079 (GRCm39) |
|
probably benign |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Cstdc5 |
T |
C |
16: 36,179,860 (GRCm39) |
T86A |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,845,724 (GRCm39) |
|
probably benign |
Het |
| Dnajb11 |
A |
G |
16: 22,689,768 (GRCm39) |
N311D |
probably benign |
Het |
| Flg2 |
A |
C |
3: 93,127,199 (GRCm39) |
Q2037P |
unknown |
Het |
| Glyctk |
T |
C |
9: 106,034,980 (GRCm39) |
T29A |
probably benign |
Het |
| Gtf3c1 |
C |
A |
7: 125,245,687 (GRCm39) |
R1672L |
possibly damaging |
Het |
| Hps3 |
A |
T |
3: 20,057,385 (GRCm39) |
|
probably benign |
Het |
| Kcnh3 |
G |
T |
15: 99,136,052 (GRCm39) |
C683F |
possibly damaging |
Het |
| Lmtk2 |
T |
G |
5: 144,085,166 (GRCm39) |
F213V |
probably damaging |
Het |
| Malrd1 |
C |
A |
2: 16,147,123 (GRCm39) |
C1988* |
probably null |
Het |
| Map3k11 |
T |
A |
19: 5,750,834 (GRCm39) |
M684K |
probably benign |
Het |
| Oga |
T |
A |
19: 45,740,630 (GRCm39) |
M902L |
possibly damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Plekhh1 |
T |
C |
12: 79,125,882 (GRCm39) |
|
probably null |
Het |
| Rev3l |
C |
A |
10: 39,697,277 (GRCm39) |
N591K |
probably benign |
Het |
| Rrp9 |
T |
A |
9: 106,360,827 (GRCm39) |
N269K |
probably damaging |
Het |
| Sec14l4 |
T |
C |
11: 3,989,941 (GRCm39) |
I80T |
possibly damaging |
Het |
| Srpra |
G |
A |
9: 35,126,328 (GRCm39) |
|
probably null |
Het |
| Tmc8 |
G |
A |
11: 117,674,714 (GRCm39) |
R143H |
probably benign |
Het |
| Trank1 |
T |
C |
9: 111,212,193 (GRCm39) |
I1777T |
probably benign |
Het |
| Trim17 |
C |
A |
11: 58,861,902 (GRCm39) |
Y311* |
probably null |
Het |
| Vps13a |
C |
T |
19: 16,632,686 (GRCm39) |
A2557T |
probably benign |
Het |
| Vps53 |
T |
G |
11: 75,992,883 (GRCm39) |
N106T |
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 |
|
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 |
Incidental Mutation