Incidental Mutation 'R1145:C1s1'
ID |
165067 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
C1s1
|
Ensembl Gene |
ENSMUSG00000038521 |
Gene Name |
complement component 1, s subcomponent 1 |
Synonyms |
C1s |
MMRRC Submission |
039218-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
R1145 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
124507304-124519318 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 124517759 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 74
(D74Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125712
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159463]
[ENSMUST00000160505]
[ENSMUST00000162443]
[ENSMUST00000162844]
|
AlphaFold |
no structure available at present |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159143
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159463
AA Change: D74Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125439 Gene: ENSMUSG00000038521 AA Change: D74Y
Domain | Start | End | E-Value | Type |
CUB
|
15 |
136 |
1.08e-29 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160505
AA Change: D74Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125531 Gene: ENSMUSG00000038521 AA Change: D74Y
Domain | Start | End | E-Value | Type |
CUB
|
15 |
136 |
1.08e-29 |
SMART |
EGF_CA
|
137 |
178 |
1.79e-7 |
SMART |
CUB
|
181 |
296 |
5.89e-31 |
SMART |
CCP
|
300 |
360 |
3.22e-5 |
SMART |
CCP
|
365 |
427 |
5.48e-8 |
SMART |
Tryp_SPc
|
443 |
681 |
1.88e-70 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160967
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162443
AA Change: D74Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125712 Gene: ENSMUSG00000038521 AA Change: D74Y
Domain | Start | End | E-Value | Type |
CUB
|
15 |
136 |
1.08e-29 |
SMART |
EGF_CA
|
137 |
178 |
1.79e-7 |
SMART |
CUB
|
181 |
296 |
5.89e-31 |
SMART |
CCP
|
300 |
360 |
3.22e-5 |
SMART |
CCP
|
365 |
427 |
5.48e-8 |
SMART |
Tryp_SPc
|
443 |
681 |
1.88e-70 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162844
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 88.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
T |
C |
16: 56,488,639 (GRCm39) |
S1257P |
possibly damaging |
Het |
AC159637.1 |
C |
T |
12: 93,895,054 (GRCm39) |
|
noncoding transcript |
Het |
Agk |
T |
C |
6: 40,329,372 (GRCm39) |
|
probably benign |
Het |
Arhgef5 |
C |
A |
6: 43,250,022 (GRCm39) |
Q258K |
possibly damaging |
Het |
Cpxm2 |
A |
G |
7: 131,659,377 (GRCm39) |
S497P |
probably damaging |
Het |
Ctsj |
C |
T |
13: 61,150,357 (GRCm39) |
S214N |
probably damaging |
Het |
Dnali1 |
T |
C |
4: 124,959,340 (GRCm39) |
S18G |
possibly damaging |
Het |
Eif4g3 |
C |
T |
4: 137,893,129 (GRCm39) |
T959M |
probably damaging |
Het |
Eml6 |
A |
G |
11: 29,727,430 (GRCm39) |
F1231L |
probably benign |
Het |
Glp1r |
T |
C |
17: 31,138,406 (GRCm39) |
V160A |
probably benign |
Het |
Gm11143 |
T |
G |
6: 69,594,392 (GRCm39) |
V60G |
unknown |
Het |
Hmcn1 |
A |
T |
1: 150,555,358 (GRCm39) |
|
probably null |
Het |
Inpp5k |
T |
C |
11: 75,524,285 (GRCm39) |
|
probably benign |
Het |
Krtdap |
A |
T |
7: 30,488,975 (GRCm39) |
|
probably benign |
Het |
Ldb2 |
A |
G |
5: 44,690,016 (GRCm39) |
L201P |
probably damaging |
Het |
Loxl4 |
A |
T |
19: 42,596,994 (GRCm39) |
|
probably benign |
Het |
Odad2 |
G |
T |
18: 7,268,436 (GRCm39) |
P361Q |
probably damaging |
Het |
Otud6b |
T |
A |
4: 14,812,532 (GRCm39) |
T272S |
probably benign |
Het |
Pnpla2 |
T |
C |
7: 141,035,329 (GRCm39) |
Y44H |
probably damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Sel1l3 |
C |
T |
5: 53,289,169 (GRCm39) |
R884H |
probably damaging |
Het |
Slc43a2 |
T |
A |
11: 75,457,815 (GRCm39) |
Y363* |
probably null |
Het |
Taf2 |
GCTTCTTCTTCTTCTTCTT |
GCTTCTTCTTCTTCTT |
15: 54,879,857 (GRCm39) |
|
probably benign |
Het |
Tap2 |
C |
A |
17: 34,434,914 (GRCm39) |
D652E |
possibly damaging |
Het |
Unc80 |
T |
C |
1: 66,511,247 (GRCm39) |
V85A |
probably damaging |
Het |
Vwa3a |
T |
C |
7: 120,392,566 (GRCm39) |
Y802H |
probably damaging |
Het |
Zc3h4 |
G |
A |
7: 16,150,838 (GRCm39) |
R60Q |
possibly damaging |
Het |
Zfp385a |
A |
T |
15: 103,226,370 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in C1s1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02225:C1s1
|
APN |
6 |
124,518,293 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02590:C1s1
|
APN |
6 |
124,508,235 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02968:C1s1
|
APN |
6 |
124,517,310 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03301:C1s1
|
APN |
6 |
124,518,283 (GRCm39) |
splice site |
probably benign |
|
BB008:C1s1
|
UTSW |
6 |
124,510,359 (GRCm39) |
missense |
probably damaging |
1.00 |
BB018:C1s1
|
UTSW |
6 |
124,510,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R0105:C1s1
|
UTSW |
6 |
124,518,277 (GRCm39) |
splice site |
probably benign |
|
R0396:C1s1
|
UTSW |
6 |
124,510,313 (GRCm39) |
missense |
probably benign |
0.03 |
R0759:C1s1
|
UTSW |
6 |
124,508,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R1145:C1s1
|
UTSW |
6 |
124,517,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R1396:C1s1
|
UTSW |
6 |
124,508,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R1466:C1s1
|
UTSW |
6 |
124,508,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R1466:C1s1
|
UTSW |
6 |
124,508,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R1627:C1s1
|
UTSW |
6 |
124,514,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R1855:C1s1
|
UTSW |
6 |
124,511,315 (GRCm39) |
critical splice donor site |
probably null |
|
R2010:C1s1
|
UTSW |
6 |
124,514,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R2349:C1s1
|
UTSW |
6 |
124,518,432 (GRCm39) |
start gained |
probably benign |
|
R4544:C1s1
|
UTSW |
6 |
124,508,499 (GRCm39) |
missense |
probably benign |
0.31 |
R4661:C1s1
|
UTSW |
6 |
124,513,449 (GRCm39) |
missense |
probably benign |
0.22 |
R5383:C1s1
|
UTSW |
6 |
124,511,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R5687:C1s1
|
UTSW |
6 |
124,517,909 (GRCm39) |
missense |
probably benign |
0.01 |
R5846:C1s1
|
UTSW |
6 |
124,517,912 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6289:C1s1
|
UTSW |
6 |
124,508,135 (GRCm39) |
missense |
probably damaging |
0.99 |
R6410:C1s1
|
UTSW |
6 |
124,508,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R6983:C1s1
|
UTSW |
6 |
124,517,855 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7931:C1s1
|
UTSW |
6 |
124,510,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R8141:C1s1
|
UTSW |
6 |
124,508,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R8341:C1s1
|
UTSW |
6 |
124,508,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R8399:C1s1
|
UTSW |
6 |
124,512,252 (GRCm39) |
missense |
probably benign |
0.00 |
R8926:C1s1
|
UTSW |
6 |
124,513,322 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8926:C1s1
|
UTSW |
6 |
124,510,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R9008:C1s1
|
UTSW |
6 |
124,509,499 (GRCm39) |
critical splice donor site |
probably null |
|
R9147:C1s1
|
UTSW |
6 |
124,517,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R9148:C1s1
|
UTSW |
6 |
124,517,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R9153:C1s1
|
UTSW |
6 |
124,517,906 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9177:C1s1
|
UTSW |
6 |
124,508,362 (GRCm39) |
missense |
probably damaging |
0.98 |
RF029:C1s1
|
UTSW |
6 |
124,518,310 (GRCm39) |
start codon destroyed |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCAGAACCTTTACTCCCGATCTCC -3'
(R):5'- TCTGCATGAAGCCATCGGTTCC -3'
Sequencing Primer
(F):5'- Agtgctggggaccaaactc -3'
(R):5'- GGCTTCCCACCTCTGTGTG -3'
|
Posted On |
2014-03-28 |