Incidental Mutation 'IGL02980:C1rl'
| ID |
392136 |
| Institutional Source |
Beutler Lab
|
| 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 # |
IGL02980 (G1)
|
| Quality Score |
219 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124470072-124487602 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124485487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 286
(I286T)
|
| 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: I286T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000042883
Gene: ENSMUSG00000038527
AA Change: I286T
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Adam28 |
A |
T |
14: 68,857,255 (GRCm39) |
S584T |
probably benign |
Het |
| Akap1 |
A |
T |
11: 88,735,990 (GRCm39) |
I224N |
probably benign |
Het |
| Ankdd1b |
C |
T |
13: 96,572,448 (GRCm39) |
R214Q |
probably benign |
Het |
| Armt1 |
A |
G |
10: 4,400,643 (GRCm39) |
|
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,150,399 (GRCm39) |
T2528A |
probably damaging |
Het |
| Col4a4 |
A |
G |
1: 82,447,198 (GRCm39) |
|
probably null |
Het |
| Dag1 |
A |
G |
9: 108,095,237 (GRCm39) |
I85T |
probably benign |
Het |
| Elf2 |
A |
G |
3: 51,172,379 (GRCm39) |
V86A |
possibly damaging |
Het |
| Emsy |
T |
C |
7: 98,268,587 (GRCm39) |
T485A |
probably damaging |
Het |
| Fam169a |
T |
C |
13: 97,250,188 (GRCm39) |
|
probably null |
Het |
| Hsd17b4 |
A |
G |
18: 50,279,585 (GRCm39) |
H188R |
probably benign |
Het |
| Ighv9-2 |
C |
T |
12: 114,072,839 (GRCm39) |
V45M |
probably damaging |
Het |
| Kifbp |
A |
C |
10: 62,394,947 (GRCm39) |
L565W |
probably damaging |
Het |
| Lama3 |
C |
T |
18: 12,686,288 (GRCm39) |
L2784F |
probably benign |
Het |
| Ms4a4c |
G |
T |
19: 11,393,747 (GRCm39) |
A64S |
probably benign |
Het |
| Nudt22 |
A |
G |
19: 6,970,500 (GRCm39) |
L280P |
probably damaging |
Het |
| Oscar |
T |
C |
7: 3,614,062 (GRCm39) |
|
probably benign |
Het |
| Paics |
A |
G |
5: 77,114,102 (GRCm39) |
I321V |
probably benign |
Het |
| Pappa |
A |
T |
4: 65,226,011 (GRCm39) |
H1288L |
probably benign |
Het |
| Pla2r1 |
T |
C |
2: 60,345,390 (GRCm39) |
E322G |
possibly damaging |
Het |
| Poldip2 |
T |
A |
11: 78,412,054 (GRCm39) |
M330K |
probably damaging |
Het |
| Potefam1 |
G |
A |
2: 110,994,818 (GRCm39) |
H232Y |
unknown |
Het |
| Recql5 |
T |
C |
11: 115,784,770 (GRCm39) |
|
probably null |
Het |
| Rnf145 |
A |
G |
11: 44,452,484 (GRCm39) |
M488V |
probably benign |
Het |
| Rrp1b |
T |
A |
17: 32,269,013 (GRCm39) |
D170E |
possibly damaging |
Het |
| Slamf7 |
T |
C |
1: 171,468,566 (GRCm39) |
S109G |
possibly damaging |
Het |
| Slf1 |
A |
G |
13: 77,192,123 (GRCm39) |
S904P |
possibly damaging |
Het |
| St7 |
C |
A |
6: 17,749,545 (GRCm39) |
|
probably benign |
Het |
| Stk25 |
A |
G |
1: 93,555,390 (GRCm39) |
S102P |
probably damaging |
Het |
| Supt6 |
C |
T |
11: 78,116,548 (GRCm39) |
A659T |
probably damaging |
Het |
| Tdrp |
A |
C |
8: 14,003,918 (GRCm39) |
S140A |
probably damaging |
Het |
| Thbs3 |
A |
G |
3: 89,130,451 (GRCm39) |
N527D |
probably benign |
Het |
| Tsnaxip1 |
G |
T |
8: 106,568,842 (GRCm39) |
V444L |
probably damaging |
Het |
| U2af2 |
A |
G |
7: 5,071,042 (GRCm39) |
I116V |
probably benign |
Het |
| Zfp931 |
C |
A |
2: 177,711,409 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTAATCTCTCACGGTTGTTGATC -3'
(R):5'- TGCTCAAGTTCCAGGAGAGC -3'
Sequencing Primer
(F):5'- CCTCACTTGCAGTCTGTGG -3'
(R):5'- TGCTCAAGTTCCAGGAGAGCAATATC -3'
|
| Posted On |
2016-06-09 |
Incidental Mutation