Incidental Mutation 'R1451:C1s2'
| ID |
161662 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C1s2
|
| Ensembl Gene |
ENSMUSG00000079343 |
| Gene Name |
complement component 1, s subcomponent 2 |
| Synonyms |
Gm5077 |
| MMRRC Submission |
039506-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R1451 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124601584-124613044 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 124602453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 580
(I580N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066999
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068797]
[ENSMUST00000218020]
|
| AlphaFold |
Q8CFG8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068797
AA Change: I580N
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000066999
Gene: ENSMUSG00000079343
AA Change: I580N
| Domain | Start | End | E-Value | Type |
|---|
|
CUB
|
15 |
136 |
1.31e-28 |
SMART |
|
EGF_CA
|
137 |
178 |
3.35e-7 |
SMART |
|
CUB
|
181 |
296 |
1.45e-30 |
SMART |
|
CCP
|
300 |
360 |
3.27e-6 |
SMART |
|
CCP
|
365 |
427 |
9.54e-8 |
SMART |
|
Tryp_SPc
|
443 |
681 |
8.92e-72 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204754
AA Change: I586N
|
| SMART Domains |
Protein: ENSMUSP00000145029
Gene: ENSMUSG00000107554
AA Change: I586N
| Domain | Start | End | E-Value | Type |
|---|
|
CUB
|
15 |
136 |
1.31e-28 |
SMART |
|
EGF_CA
|
137 |
178 |
3.35e-7 |
SMART |
|
CUB
|
181 |
296 |
1.45e-30 |
SMART |
|
CCP
|
300 |
360 |
3.27e-6 |
SMART |
|
CCP
|
365 |
427 |
9.54e-8 |
SMART |
|
Tryp_SPc
|
443 |
681 |
8.92e-72 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218020
AA Change: I586N
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.3%
|
| Validation Efficiency |
96% (55/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024G13Rik |
T |
C |
14: 32,098,588 (GRCm39) |
E83G |
possibly damaging |
Het |
| Abca9 |
A |
G |
11: 110,018,273 (GRCm39) |
S1116P |
probably damaging |
Het |
| Abcc12 |
T |
A |
8: 87,284,322 (GRCm39) |
T296S |
probably damaging |
Het |
| Adarb2 |
A |
G |
13: 8,389,657 (GRCm39) |
|
probably benign |
Het |
| Arhgef12 |
C |
T |
9: 42,903,874 (GRCm39) |
|
probably benign |
Het |
| Asah1 |
A |
G |
8: 41,807,049 (GRCm39) |
|
probably null |
Het |
| C1ra |
A |
T |
6: 124,498,600 (GRCm39) |
Q431L |
probably benign |
Het |
| Cacna2d4 |
C |
T |
6: 119,213,785 (GRCm39) |
T68I |
probably benign |
Het |
| Car8 |
A |
T |
4: 8,189,327 (GRCm39) |
H162Q |
probably benign |
Het |
| Ccdc106 |
A |
G |
7: 5,062,527 (GRCm39) |
R116G |
probably damaging |
Het |
| Ccdc136 |
T |
A |
6: 29,419,376 (GRCm39) |
N965K |
probably benign |
Het |
| Cd200r3 |
A |
G |
16: 44,771,910 (GRCm39) |
E58G |
possibly damaging |
Het |
| Cnksr3 |
T |
A |
10: 7,076,830 (GRCm39) |
S121C |
probably null |
Het |
| Cog6 |
T |
C |
3: 52,916,534 (GRCm39) |
M212V |
possibly damaging |
Het |
| Ebna1bp2 |
C |
A |
4: 118,478,269 (GRCm39) |
|
probably null |
Het |
| Epha1 |
C |
A |
6: 42,338,385 (GRCm39) |
M730I |
probably damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,836,582 (GRCm39) |
F167S |
probably damaging |
Het |
| Fscn2 |
A |
T |
11: 120,252,848 (GRCm39) |
E105V |
probably damaging |
Het |
| Gars1 |
T |
C |
6: 55,030,108 (GRCm39) |
|
probably benign |
Het |
| Itgb4 |
G |
T |
11: 115,881,710 (GRCm39) |
G753V |
probably damaging |
Het |
| Kif23 |
C |
T |
9: 61,832,084 (GRCm39) |
V634M |
probably damaging |
Het |
| Krt8 |
T |
C |
15: 101,907,264 (GRCm39) |
Y273C |
possibly damaging |
Het |
| Lgmn |
A |
G |
12: 102,372,151 (GRCm39) |
|
probably benign |
Het |
| Lrig3 |
T |
C |
10: 125,845,926 (GRCm39) |
I785T |
possibly damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,038,376 (GRCm39) |
|
probably benign |
Het |
| Lta4h |
A |
G |
10: 93,316,590 (GRCm39) |
D491G |
probably damaging |
Het |
| Megf10 |
A |
T |
18: 57,385,931 (GRCm39) |
S315C |
probably damaging |
Het |
| Mphosph8 |
C |
T |
14: 56,905,878 (GRCm39) |
R24C |
possibly damaging |
Het |
| Neurog2 |
A |
G |
3: 127,427,490 (GRCm39) |
D38G |
possibly damaging |
Het |
| Or1j11 |
G |
T |
2: 36,311,877 (GRCm39) |
A156S |
probably benign |
Het |
| Or2w2 |
A |
T |
13: 21,758,457 (GRCm39) |
Y56* |
probably null |
Het |
| Or2z2 |
C |
T |
11: 58,346,358 (GRCm39) |
R139H |
probably benign |
Het |
| Or6b3 |
T |
A |
1: 92,439,517 (GRCm39) |
I78F |
possibly damaging |
Het |
| Or8b50 |
A |
T |
9: 38,518,234 (GRCm39) |
I158F |
probably benign |
Het |
| Or8g50 |
T |
A |
9: 39,648,612 (GRCm39) |
V167D |
probably benign |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,989 (GRCm39) |
D593V |
probably damaging |
Het |
| Pde2a |
G |
T |
7: 101,071,198 (GRCm39) |
E23* |
probably null |
Het |
| Prex2 |
G |
A |
1: 11,226,483 (GRCm39) |
V749I |
probably benign |
Het |
| Ptchd4 |
A |
G |
17: 42,813,809 (GRCm39) |
Y570C |
probably damaging |
Het |
| Robo3 |
C |
T |
9: 37,329,007 (GRCm39) |
R1237K |
probably benign |
Het |
| Slc6a1 |
C |
A |
6: 114,284,756 (GRCm39) |
Y87* |
probably null |
Het |
| Snx13 |
G |
A |
12: 35,128,983 (GRCm39) |
A34T |
probably benign |
Het |
| Sppl3 |
T |
C |
5: 115,226,424 (GRCm39) |
L193P |
probably damaging |
Het |
| Tia1 |
A |
T |
6: 86,407,321 (GRCm39) |
Y277F |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trappc2l |
T |
C |
8: 123,342,134 (GRCm39) |
F127L |
probably damaging |
Het |
| Ushbp1 |
G |
T |
8: 71,838,663 (GRCm39) |
Q588K |
possibly damaging |
Het |
| Usp43 |
T |
A |
11: 67,747,007 (GRCm39) |
H895L |
probably benign |
Het |
| Vmn1r179 |
T |
A |
7: 23,628,275 (GRCm39) |
C155* |
probably null |
Het |
| Vmn2r8 |
T |
A |
5: 108,945,933 (GRCm39) |
D558V |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,688,228 (GRCm39) |
T860A |
probably benign |
Het |
| Vps50 |
A |
G |
6: 3,565,628 (GRCm39) |
N522S |
possibly damaging |
Het |
| Zfp180 |
T |
C |
7: 23,804,643 (GRCm39) |
F354S |
probably benign |
Het |
| Zgpat |
A |
G |
2: 181,021,984 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in C1s2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01503:C1s2
|
APN |
6 |
124,602,612 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02112:C1s2
|
APN |
6 |
124,602,267 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02342:C1s2
|
APN |
6 |
124,609,075 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0616:C1s2
|
UTSW |
6 |
124,605,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0621:C1s2
|
UTSW |
6 |
124,608,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1439:C1s2
|
UTSW |
6 |
124,607,126 (GRCm39) |
splice site |
probably benign |
|
|
R1484:C1s2
|
UTSW |
6 |
124,602,604 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1570:C1s2
|
UTSW |
6 |
124,602,723 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1824:C1s2
|
UTSW |
6 |
124,612,641 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2009:C1s2
|
UTSW |
6 |
124,612,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2109:C1s2
|
UTSW |
6 |
124,612,004 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2197:C1s2
|
UTSW |
6 |
124,609,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4421:C1s2
|
UTSW |
6 |
124,602,174 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4573:C1s2
|
UTSW |
6 |
124,605,202 (GRCm39) |
splice site |
probably null |
|
|
R4906:C1s2
|
UTSW |
6 |
124,612,073 (GRCm39) |
nonsense |
probably null |
|
|
R4923:C1s2
|
UTSW |
6 |
124,602,649 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4977:C1s2
|
UTSW |
6 |
124,612,598 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5030:C1s2
|
UTSW |
6 |
124,612,547 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5690:C1s2
|
UTSW |
6 |
124,607,996 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5708:C1s2
|
UTSW |
6 |
124,602,702 (GRCm39) |
nonsense |
probably null |
|
|
R5846:C1s2
|
UTSW |
6 |
124,608,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6176:C1s2
|
UTSW |
6 |
124,602,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6177:C1s2
|
UTSW |
6 |
124,606,960 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6842:C1s2
|
UTSW |
6 |
124,604,461 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7291:C1s2
|
UTSW |
6 |
124,602,343 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7590:C1s2
|
UTSW |
6 |
124,609,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7721:C1s2
|
UTSW |
6 |
124,607,017 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7864:C1s2
|
UTSW |
6 |
124,602,246 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7886:C1s2
|
UTSW |
6 |
124,605,289 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8849:C1s2
|
UTSW |
6 |
124,602,754 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9135:C1s2
|
UTSW |
6 |
124,602,642 (GRCm39) |
missense |
probably benign |
|
|
R9366:C1s2
|
UTSW |
6 |
124,602,694 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9407:C1s2
|
UTSW |
6 |
124,602,454 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9550:C1s2
|
UTSW |
6 |
124,605,253 (GRCm39) |
nonsense |
probably null |
|
|
R9614:C1s2
|
UTSW |
6 |
124,602,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9751:C1s2
|
UTSW |
6 |
124,602,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:C1s2
|
UTSW |
6 |
124,612,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:C1s2
|
UTSW |
6 |
124,602,693 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGACATTGGGGACCTGGAAAG -3'
(R):5'- GGAAAATGCCCAGAGGCTCTACAC -3'
Sequencing Primer
(F):5'- TGGAAAGCAAAAGCCCCTC -3'
(R):5'- AAGCGTGTGATTATTCATCCCG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation