Incidental Mutation 'R0782:Serping1'
| ID |
76670 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serping1
|
| Ensembl Gene |
ENSMUSG00000023224 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade G, member 1 |
| Synonyms |
C1 inhibitor, C1nh, C1INH |
| MMRRC Submission |
038962-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R0782 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
84595731-84605788 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 84597790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 364
(P364S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023994
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023994]
[ENSMUST00000111641]
|
| AlphaFold |
P97290 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023994
AA Change: P364S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023994
Gene: ENSMUSG00000023224
AA Change: P364S
| 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
|
| SMART Domains |
Protein: ENSMUSP00000107268
Gene: ENSMUSG00000023224
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
SERPIN
|
156 |
347 |
5.39e-6 |
SMART |
|
| Meta Mutation Damage Score |
0.8502 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 93.3%
|
| Validation Efficiency |
100% (39/39) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap23 |
C |
T |
11: 97,391,380 (GRCm39) |
P1299L |
possibly damaging |
Het |
| B3glct |
C |
T |
5: 149,650,275 (GRCm39) |
T126M |
probably damaging |
Het |
| Baz1a |
A |
T |
12: 54,941,273 (GRCm39) |
D1492E |
probably damaging |
Het |
| Cdc14a |
A |
G |
3: 116,115,785 (GRCm39) |
I259T |
probably damaging |
Het |
| Cog7 |
C |
A |
7: 121,543,020 (GRCm39) |
A464S |
possibly damaging |
Het |
| Csf2rb2 |
C |
A |
15: 78,170,951 (GRCm39) |
K368N |
probably damaging |
Het |
| Cspp1 |
T |
A |
1: 10,200,199 (GRCm39) |
|
probably benign |
Het |
| Cyp2c37 |
A |
G |
19: 39,982,269 (GRCm39) |
H90R |
probably benign |
Het |
| Dcst1 |
A |
G |
3: 89,264,807 (GRCm39) |
F314L |
possibly damaging |
Het |
| Dhx36 |
A |
T |
3: 62,414,135 (GRCm39) |
|
probably benign |
Het |
| Efr3b |
G |
A |
12: 4,034,686 (GRCm39) |
|
probably benign |
Het |
| Faap100 |
A |
G |
11: 120,267,530 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
A |
G |
1: 150,629,416 (GRCm39) |
I947T |
possibly damaging |
Het |
| Ilkap |
C |
T |
1: 91,306,272 (GRCm39) |
R103H |
probably damaging |
Het |
| Impa1 |
A |
T |
3: 10,387,956 (GRCm39) |
|
probably benign |
Het |
| Kbtbd8 |
C |
T |
6: 95,099,213 (GRCm39) |
R164C |
probably damaging |
Het |
| Lactb2 |
T |
G |
1: 13,717,675 (GRCm39) |
N116T |
probably benign |
Het |
| Myh8 |
T |
A |
11: 67,180,580 (GRCm39) |
N605K |
probably benign |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Napa |
T |
C |
7: 15,849,192 (GRCm39) |
M244T |
probably benign |
Het |
| Nckap5 |
G |
A |
1: 125,909,278 (GRCm39) |
S1719F |
probably damaging |
Het |
| Nfe2l2 |
T |
C |
2: 75,507,177 (GRCm39) |
I308V |
probably benign |
Het |
| Or51af1 |
C |
A |
7: 103,141,722 (GRCm39) |
R121L |
probably damaging |
Het |
| Ppfia2 |
C |
T |
10: 106,763,592 (GRCm39) |
S1195L |
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,133,386 (GRCm39) |
K615R |
possibly damaging |
Het |
| Rnf216 |
T |
C |
5: 143,054,647 (GRCm39) |
K634E |
possibly damaging |
Het |
| Samd3 |
A |
G |
10: 26,146,138 (GRCm39) |
T388A |
probably damaging |
Het |
| Slc39a10 |
T |
C |
1: 46,875,156 (GRCm39) |
S49G |
probably damaging |
Het |
| Smc2 |
C |
A |
4: 52,469,799 (GRCm39) |
T762K |
probably benign |
Het |
| Smpd1 |
T |
A |
7: 105,204,550 (GRCm39) |
V143E |
possibly damaging |
Het |
| Synj2bp |
A |
T |
12: 81,579,507 (GRCm39) |
L16Q |
probably damaging |
Het |
| Tcof1 |
G |
A |
18: 60,949,352 (GRCm39) |
R1188W |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,661,740 (GRCm39) |
R1722G |
possibly damaging |
Het |
| Vamp5 |
T |
C |
6: 72,346,453 (GRCm39) |
S48G |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,853,195 (GRCm39) |
|
probably benign |
Het |
| Zfp292 |
T |
C |
4: 34,839,382 (GRCm39) |
N161S |
possibly damaging |
Het |
| Zfp831 |
A |
G |
2: 174,488,423 (GRCm39) |
T1033A |
probably benign |
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 |
|
IGL01791:Serping1
|
APN |
2 |
84,603,721 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATAGCCGCATTTTAGCACCACC -3'
(R):5'- ACCAGGACCAGCATACTTCAGTCAG -3'
Sequencing Primer
(F):5'- CCGGGGAGTAACCACAAGTG -3'
(R):5'- AGTCAGCTTGACTGGCAC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation