Incidental Mutation 'IGL02950:C1rl'
| ID |
364910 |
| 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 # |
IGL02950
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
124470072-124487602 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 124485820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 397
(C397Y)
|
| 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: C397Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042883
Gene: ENSMUSG00000038527
AA Change: C397Y
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
T |
19: 43,814,406 (GRCm39) |
S1129C |
possibly damaging |
Het |
| Afm |
A |
T |
5: 90,679,466 (GRCm39) |
D320V |
probably damaging |
Het |
| Ap5m1 |
C |
T |
14: 49,311,392 (GRCm39) |
T154I |
probably benign |
Het |
| Bcl11b |
G |
A |
12: 107,956,065 (GRCm39) |
T28I |
probably benign |
Het |
| Bhlhe40 |
G |
T |
6: 108,641,503 (GRCm39) |
C149F |
probably damaging |
Het |
| Bmper |
A |
T |
9: 23,310,790 (GRCm39) |
D408V |
probably damaging |
Het |
| C2cd4c |
A |
G |
10: 79,448,665 (GRCm39) |
S161P |
probably damaging |
Het |
| Cemip2 |
A |
T |
19: 21,819,564 (GRCm39) |
K1118N |
probably benign |
Het |
| Cep290 |
T |
C |
10: 100,376,191 (GRCm39) |
|
probably benign |
Het |
| Cp |
T |
C |
3: 20,042,165 (GRCm39) |
Y978H |
probably damaging |
Het |
| Csf2ra |
T |
C |
19: 61,215,607 (GRCm39) |
D37G |
probably benign |
Het |
| Ddx24 |
A |
G |
12: 103,383,801 (GRCm39) |
V596A |
probably damaging |
Het |
| Dnmt3l |
A |
G |
10: 77,886,785 (GRCm39) |
S82G |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,331,753 (GRCm39) |
Y46C |
probably damaging |
Het |
| Eno2 |
A |
T |
6: 124,740,081 (GRCm39) |
D318E |
probably damaging |
Het |
| Gm43738 |
A |
C |
3: 88,996,355 (GRCm39) |
L120R |
probably damaging |
Het |
| Hgsnat |
C |
A |
8: 26,461,729 (GRCm39) |
C29F |
probably damaging |
Het |
| Hltf |
T |
A |
3: 20,130,736 (GRCm39) |
V318D |
probably benign |
Het |
| Kcnh8 |
A |
G |
17: 53,263,795 (GRCm39) |
H764R |
probably benign |
Het |
| Kcnq3 |
A |
G |
15: 65,892,142 (GRCm39) |
F411S |
probably benign |
Het |
| Lpcat4 |
C |
A |
2: 112,074,387 (GRCm39) |
N287K |
possibly damaging |
Het |
| Ltbp4 |
A |
C |
7: 27,006,143 (GRCm39) |
F1512V |
probably damaging |
Het |
| Mctp1 |
A |
T |
13: 77,172,929 (GRCm39) |
L868F |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,713,360 (GRCm39) |
|
probably benign |
Het |
| Or5g23 |
A |
T |
2: 85,438,501 (GRCm39) |
L251Q |
possibly damaging |
Het |
| Otub2 |
A |
G |
12: 103,369,632 (GRCm39) |
D237G |
probably damaging |
Het |
| Pax3 |
A |
G |
1: 78,079,997 (GRCm39) |
V463A |
probably benign |
Het |
| Podn |
T |
C |
4: 107,875,048 (GRCm39) |
K573R |
possibly damaging |
Het |
| Ppp5c |
A |
C |
7: 16,740,835 (GRCm39) |
S378A |
probably benign |
Het |
| Pramel29 |
A |
G |
4: 143,939,531 (GRCm39) |
V2A |
probably benign |
Het |
| Prl2a1 |
T |
A |
13: 27,988,914 (GRCm39) |
L13Q |
probably damaging |
Het |
| Ptgir |
A |
G |
7: 16,641,526 (GRCm39) |
T70A |
probably damaging |
Het |
| Ralyl |
C |
A |
3: 14,104,781 (GRCm39) |
N15K |
probably damaging |
Het |
| Rbck1 |
C |
T |
2: 152,172,997 (GRCm39) |
R17Q |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,796,884 (GRCm39) |
Y973H |
probably damaging |
Het |
| Sh2d6 |
A |
G |
6: 72,492,285 (GRCm39) |
V260A |
probably damaging |
Het |
| Spen |
G |
A |
4: 141,196,819 (GRCm39) |
P3559S |
probably damaging |
Het |
| Tbcd |
T |
A |
11: 121,494,535 (GRCm39) |
V1032D |
probably damaging |
Het |
| Trav12-1 |
T |
A |
14: 53,776,024 (GRCm39) |
V59E |
probably damaging |
Het |
| Unc93a |
T |
A |
17: 13,344,455 (GRCm39) |
Q29L |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,808,525 (GRCm39) |
|
probably benign |
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 |
|
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 |
2015-12-18 |
Incidental Mutation