Incidental Mutation 'IGL01791:Serping1'
ID |
155225 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Serping1
|
Ensembl Gene |
ENSMUSG00000023224 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade G, member 1 |
Synonyms |
C1 inhibitor, C1nh, C1INH |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
IGL01791
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
84595731-84605788 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84603721 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 107
(N107D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023994
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023994]
[ENSMUST00000111641]
|
AlphaFold |
P97290 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023994
AA Change: N107D
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000023994 Gene: ENSMUSG00000023224 AA Change: N107D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
SERPIN
|
156 |
502 |
3.26e-97 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111641
AA Change: N107D
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000107268 Gene: ENSMUSG00000023224 AA Change: N107D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
SERPIN
|
156 |
347 |
5.39e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131456
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its protein inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. Deficiency of this protein is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq, Jul 2008] PHENOTYPE: Mutant mice exhibit an increased vascular permeability compared to controls. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap32 |
A |
G |
9: 32,158,486 (GRCm39) |
I174V |
probably damaging |
Het |
Asb15 |
T |
A |
6: 24,567,211 (GRCm39) |
C511S |
probably damaging |
Het |
Atr |
C |
T |
9: 95,803,834 (GRCm39) |
A1896V |
probably benign |
Het |
B3gnt4 |
C |
T |
5: 123,649,162 (GRCm39) |
R176C |
probably damaging |
Het |
Brf1 |
T |
C |
12: 112,926,095 (GRCm39) |
D557G |
probably benign |
Het |
Catsperg2 |
T |
A |
7: 29,404,090 (GRCm39) |
|
probably null |
Het |
Cdip1 |
A |
G |
16: 4,586,729 (GRCm39) |
I122T |
probably damaging |
Het |
Ctrl |
C |
T |
8: 106,659,199 (GRCm39) |
E147K |
probably benign |
Het |
Dennd2c |
T |
C |
3: 103,073,741 (GRCm39) |
V829A |
probably benign |
Het |
Dync1h1 |
T |
A |
12: 110,625,364 (GRCm39) |
L3874Q |
probably damaging |
Het |
Dynlt4 |
T |
A |
4: 116,985,794 (GRCm39) |
S206T |
probably damaging |
Het |
Gm10521 |
T |
C |
1: 171,723,964 (GRCm39) |
S92P |
unknown |
Het |
Gm57858 |
T |
C |
3: 36,089,416 (GRCm39) |
|
probably benign |
Het |
Gzf1 |
G |
A |
2: 148,525,981 (GRCm39) |
A151T |
probably benign |
Het |
Hddc2 |
A |
G |
10: 31,202,022 (GRCm39) |
Y123C |
probably damaging |
Het |
Hyal4 |
T |
C |
6: 24,763,894 (GRCm39) |
|
probably benign |
Het |
Ighv16-1 |
T |
C |
12: 114,032,589 (GRCm39) |
N71S |
probably benign |
Het |
Ing2 |
A |
T |
8: 48,122,070 (GRCm39) |
S159R |
probably benign |
Het |
Itga1 |
A |
T |
13: 115,124,197 (GRCm39) |
N698K |
probably benign |
Het |
Lemd2 |
A |
T |
17: 27,409,702 (GRCm39) |
I483N |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,809,887 (GRCm39) |
L519P |
probably damaging |
Het |
Mapk10 |
T |
C |
5: 103,144,514 (GRCm39) |
N101S |
probably damaging |
Het |
Nfatc4 |
A |
T |
14: 56,069,695 (GRCm39) |
E164V |
probably null |
Het |
Nfkb2 |
T |
G |
19: 46,298,278 (GRCm39) |
|
probably benign |
Het |
Nox3 |
A |
G |
17: 3,733,218 (GRCm39) |
V231A |
possibly damaging |
Het |
Nup160 |
G |
A |
2: 90,534,197 (GRCm39) |
G674D |
probably damaging |
Het |
Or1l4b |
A |
T |
2: 37,036,548 (GRCm39) |
D108V |
probably damaging |
Het |
Or56b1 |
C |
T |
7: 104,285,682 (GRCm39) |
T267I |
possibly damaging |
Het |
Otoa |
T |
G |
7: 120,755,072 (GRCm39) |
V998G |
probably benign |
Het |
Pcnx3 |
A |
T |
19: 5,723,295 (GRCm39) |
M1300K |
probably benign |
Het |
Pde4b |
A |
G |
4: 102,448,127 (GRCm39) |
|
probably benign |
Het |
Rfc1 |
T |
A |
5: 65,420,488 (GRCm39) |
K1104I |
probably benign |
Het |
Serpina1f |
G |
T |
12: 103,659,761 (GRCm39) |
Q174K |
probably damaging |
Het |
Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
Surf6 |
A |
G |
2: 26,789,759 (GRCm39) |
S94P |
probably benign |
Het |
Tigd4 |
T |
A |
3: 84,502,052 (GRCm39) |
I323N |
probably damaging |
Het |
Vmn2r28 |
T |
C |
7: 5,491,161 (GRCm39) |
D362G |
probably benign |
Het |
Wdfy3 |
A |
G |
5: 102,085,278 (GRCm39) |
S739P |
probably damaging |
Het |
|
Other mutations in Serping1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01376:Serping1
|
APN |
2 |
84,600,529 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01903:Serping1
|
APN |
2 |
84,600,116 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03182:Serping1
|
APN |
2 |
84,596,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R0094:Serping1
|
UTSW |
2 |
84,603,620 (GRCm39) |
missense |
probably benign |
0.00 |
R0548:Serping1
|
UTSW |
2 |
84,600,425 (GRCm39) |
splice site |
probably benign |
|
R0782:Serping1
|
UTSW |
2 |
84,597,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R1585:Serping1
|
UTSW |
2 |
84,601,848 (GRCm39) |
missense |
probably benign |
0.33 |
R1900:Serping1
|
UTSW |
2 |
84,601,793 (GRCm39) |
missense |
probably damaging |
0.99 |
R1965:Serping1
|
UTSW |
2 |
84,596,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R1966:Serping1
|
UTSW |
2 |
84,596,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R2252:Serping1
|
UTSW |
2 |
84,600,195 (GRCm39) |
missense |
probably damaging |
0.99 |
R2426:Serping1
|
UTSW |
2 |
84,600,563 (GRCm39) |
missense |
probably damaging |
0.99 |
R4997:Serping1
|
UTSW |
2 |
84,600,629 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5665:Serping1
|
UTSW |
2 |
84,601,889 (GRCm39) |
missense |
probably damaging |
0.99 |
R6192:Serping1
|
UTSW |
2 |
84,600,612 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6866:Serping1
|
UTSW |
2 |
84,600,577 (GRCm39) |
missense |
probably benign |
0.42 |
R7084:Serping1
|
UTSW |
2 |
84,603,835 (GRCm39) |
missense |
probably benign |
|
R7526:Serping1
|
UTSW |
2 |
84,597,637 (GRCm39) |
missense |
probably benign |
|
R7707:Serping1
|
UTSW |
2 |
84,604,043 (GRCm39) |
splice site |
probably null |
|
R7732:Serping1
|
UTSW |
2 |
84,600,448 (GRCm39) |
missense |
probably damaging |
1.00 |
R9480:Serping1
|
UTSW |
2 |
84,600,487 (GRCm39) |
missense |
probably benign |
0.07 |
|
Posted On |
2014-02-04 |