Incidental Mutation 'R6549:C1rl'
| ID |
521437 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C1rl
|
| Ensembl Gene |
ENSMUSG00000038527 |
| Gene Name |
complement component 1, r subcomponent-like |
| Synonyms |
C1rl1, C1r-LP |
| MMRRC Submission |
044674-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6549 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
124470072-124487602 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 124485487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 286
(I286N)
|
| 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: I286N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000042883
Gene: ENSMUSG00000038527
AA Change: I286N
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atm |
T |
C |
9: 53,404,477 (GRCm39) |
D1288G |
probably benign |
Het |
| Atxn7 |
T |
C |
14: 14,013,087 (GRCm38) |
S2P |
probably damaging |
Het |
| Ccdc54 |
T |
C |
16: 50,410,388 (GRCm39) |
R293G |
possibly damaging |
Het |
| Cndp1 |
A |
T |
18: 84,654,309 (GRCm39) |
I85K |
probably benign |
Het |
| Col25a1 |
A |
G |
3: 129,976,444 (GRCm39) |
T110A |
probably benign |
Het |
| Defb8 |
G |
T |
8: 19,497,560 (GRCm39) |
P17Q |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 30,991,340 (GRCm39) |
L3146Q |
probably damaging |
Het |
| Espn |
A |
T |
4: 152,215,525 (GRCm39) |
M1K |
probably null |
Het |
| Gm9922 |
C |
A |
14: 101,966,893 (GRCm39) |
|
probably benign |
Het |
| Hycc2 |
T |
C |
1: 58,578,759 (GRCm39) |
I264V |
probably benign |
Het |
| Ldb3 |
A |
G |
14: 34,263,854 (GRCm39) |
M545T |
probably damaging |
Het |
| Or8k30 |
A |
T |
2: 86,339,726 (GRCm39) |
I308L |
probably benign |
Het |
| Piezo1 |
G |
A |
8: 123,227,002 (GRCm39) |
H420Y |
|
Het |
| Primpol |
A |
T |
8: 47,058,185 (GRCm39) |
L115I |
probably damaging |
Het |
| Pus10 |
G |
A |
11: 23,679,075 (GRCm39) |
|
probably null |
Het |
| Rictor |
C |
G |
15: 6,825,656 (GRCm39) |
A1689G |
probably damaging |
Het |
| Scn2a |
A |
G |
2: 65,595,018 (GRCm39) |
N1956D |
probably benign |
Het |
| Scn4a |
T |
C |
11: 106,234,791 (GRCm39) |
D384G |
probably damaging |
Het |
| Sell |
A |
G |
1: 163,893,198 (GRCm39) |
D138G |
probably damaging |
Het |
| Slc4a7 |
T |
A |
14: 14,748,564 (GRCm38) |
F327L |
probably damaging |
Het |
| Sox6 |
A |
G |
7: 115,085,927 (GRCm39) |
I680T |
possibly damaging |
Het |
| Synj1 |
A |
G |
16: 90,735,565 (GRCm39) |
S1463P |
probably benign |
Het |
| Vmn1r31 |
A |
T |
6: 58,449,648 (GRCm39) |
N72K |
possibly damaging |
Het |
| Vmn2r77 |
A |
G |
7: 86,450,065 (GRCm39) |
I104V |
probably benign |
Het |
| Zfp988 |
G |
A |
4: 147,416,310 (GRCm39) |
C248Y |
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 |
|
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 |
|
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'- GAGGGTCTCTAATCTAATCTCTCACG -3'
(R):5'- TGCTCAAGTTCCAGGAGAGC -3'
Sequencing Primer
(F):5'- AATCTAATCTCTCACGGTTGTTGATC -3'
(R):5'- TGCTCAAGTTCCAGGAGAGCAATATC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation