Incidental Mutation 'R6609:C1rl'
| ID |
525822 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C1rl
|
| Ensembl Gene |
ENSMUSG00000038527 |
| Gene Name |
complement component 1, r subcomponent-like |
| Synonyms |
C1rl1, C1r-LP |
| MMRRC Submission |
044732-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6609 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124470072-124487602 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124485583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 318
(V318A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042883
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049124]
[ENSMUST00000068593]
|
| AlphaFold |
Q3UZ09 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049124
AA Change: V318A
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000042883
Gene: ENSMUSG00000038527
AA Change: V318A
| 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 |
0.1732 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
C |
T |
12: 118,892,497 (GRCm39) |
V421I |
probably damaging |
Het |
| Bpifb3 |
T |
A |
2: 153,762,568 (GRCm39) |
|
probably null |
Het |
| Cacna1b |
C |
T |
2: 24,543,061 (GRCm39) |
V1264M |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,041,129 (GRCm39) |
D1551G |
probably benign |
Het |
| Cdc42bpa |
T |
G |
1: 179,928,839 (GRCm39) |
|
probably null |
Het |
| Cdc7 |
G |
A |
5: 107,120,924 (GRCm39) |
R182H |
probably benign |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Cyth1 |
A |
T |
11: 118,061,686 (GRCm39) |
L309Q |
probably damaging |
Het |
| Dnah6 |
G |
A |
6: 73,030,678 (GRCm39) |
T3378I |
possibly damaging |
Het |
| Get4 |
A |
G |
5: 139,254,820 (GRCm39) |
|
probably benign |
Het |
| Gm136 |
T |
A |
4: 34,746,526 (GRCm39) |
M162L |
probably benign |
Het |
| Grik5 |
G |
T |
7: 24,714,951 (GRCm39) |
S681* |
probably null |
Het |
| Hsf5 |
C |
T |
11: 87,526,779 (GRCm39) |
P484S |
probably damaging |
Het |
| Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
| Kl |
A |
T |
5: 150,912,427 (GRCm39) |
K725N |
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,646,735 (GRCm39) |
V144M |
probably damaging |
Het |
| Lrrc14 |
T |
C |
15: 76,598,453 (GRCm39) |
V363A |
probably benign |
Het |
| Mettl15 |
T |
C |
2: 108,967,687 (GRCm39) |
R200G |
probably null |
Het |
| Mki67 |
T |
C |
7: 135,301,558 (GRCm39) |
T1159A |
possibly damaging |
Het |
| Muc6 |
G |
C |
7: 141,226,700 (GRCm39) |
|
probably benign |
Het |
| Ndufb5 |
C |
G |
3: 32,795,832 (GRCm39) |
T8R |
probably benign |
Het |
| Or4f60 |
T |
C |
2: 111,902,509 (GRCm39) |
M140V |
probably benign |
Het |
| Or6ae1 |
C |
A |
7: 139,742,476 (GRCm39) |
R129L |
probably benign |
Het |
| Pde1a |
T |
A |
2: 79,736,484 (GRCm39) |
D15V |
probably damaging |
Het |
| Plcg2 |
G |
A |
8: 118,294,909 (GRCm39) |
G191S |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,408,829 (GRCm39) |
T1895A |
probably damaging |
Het |
| Pxdn |
T |
C |
12: 30,052,940 (GRCm39) |
V1039A |
probably benign |
Het |
| Slc26a5 |
T |
C |
5: 22,024,717 (GRCm39) |
I456V |
possibly damaging |
Het |
| Smco4 |
C |
T |
9: 15,456,031 (GRCm39) |
A39V |
probably damaging |
Het |
| Tmem102 |
T |
A |
11: 69,695,940 (GRCm39) |
L40F |
probably damaging |
Het |
| Ylpm1 |
C |
G |
12: 85,062,051 (GRCm39) |
P651A |
unknown |
Het |
| Zfp985 |
A |
T |
4: 147,667,578 (GRCm39) |
M149L |
probably benign |
Het |
| Zfp985 |
T |
C |
4: 147,668,124 (GRCm39) |
F331L |
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 |
|
|
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 |
|
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'- GCCTTCACCAGCATCTATGG -3'
(R):5'- GGAGCTACAGGCAGTTTTGAG -3'
Sequencing Primer
(F):5'- CCAGCATCTATGGTCGTGG -3'
(R):5'- AGCTACAGGCAGTTTTGAGTATTTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation