Incidental Mutation 'IGL01923:Serpinc1'
| ID |
180153 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serpinc1
|
| Ensembl Gene |
ENSMUSG00000026715 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 |
| Synonyms |
At3, At-3, ATIII, antithrombin |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01923
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
160806153-160830113 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 160817116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 70
(E70G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064725]
[ENSMUST00000191936]
[ENSMUST00000194592]
[ENSMUST00000195438]
[ENSMUST00000195760]
|
| AlphaFold |
P32261 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064725
AA Change: E70G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000068971
Gene: ENSMUSG00000026715
AA Change: E70G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
31 |
N/A |
INTRINSIC |
|
SERPIN
|
93 |
462 |
5.55e-173 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191936
|
| SMART Domains |
Protein: ENSMUSP00000142122
Gene: ENSMUSG00000026715
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serpin
|
1 |
91 |
2e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194455
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194592
AA Change: E70G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000141556
Gene: ENSMUSG00000026715
AA Change: E70G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
SERPIN
|
93 |
286 |
8.3e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194761
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194777
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195438
|
| SMART Domains |
Protein: ENSMUSP00000141834
Gene: ENSMUSG00000026715
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serpin
|
1 |
97 |
1.1e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195760
AA Change: E70G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141864
Gene: ENSMUSG00000026715
AA Change: E70G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
31 |
N/A |
INTRINSIC |
|
Blast:SERPIN
|
32 |
107 |
5e-43 |
BLAST |
|
PDB:2GD4|C
|
32 |
107 |
3e-43 |
PDB |
|
SCOP:d1e05i_
|
35 |
107 |
4e-26 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. More than 120 mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency. [provided by RefSeq, Jul 2009]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit extensive subcutaneous hemorrhage, fibrin deposits in the myocardium and liver, and lethality by embryonic day 16.5. Heterozygotes challenged with lipopolysaccharide show increased fibrin deposits. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrd1 |
T |
A |
5: 129,255,143 (GRCm39) |
S597T |
possibly damaging |
Het |
| Btnl9 |
T |
C |
11: 49,071,409 (GRCm39) |
D138G |
probably benign |
Het |
| Cep135 |
T |
A |
5: 76,788,829 (GRCm39) |
*1141K |
probably null |
Het |
| Ctnnd2 |
A |
T |
15: 30,480,974 (GRCm39) |
Q74L |
probably damaging |
Het |
| Cyp2j13 |
A |
T |
4: 95,950,294 (GRCm39) |
W236R |
probably benign |
Het |
| Dixdc1 |
A |
T |
9: 50,606,803 (GRCm39) |
I271N |
possibly damaging |
Het |
| Dlec1 |
A |
G |
9: 118,957,182 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
C |
A |
11: 66,016,061 (GRCm39) |
|
probably benign |
Het |
| Dop1a |
A |
T |
9: 86,404,920 (GRCm39) |
Y275F |
probably damaging |
Het |
| Dysf |
T |
A |
6: 84,187,811 (GRCm39) |
*2105R |
probably null |
Het |
| Eif4a1 |
A |
T |
11: 69,563,129 (GRCm39) |
D25E |
possibly damaging |
Het |
| Fras1 |
T |
A |
5: 96,883,139 (GRCm39) |
I2557N |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm12253 |
G |
T |
11: 58,325,727 (GRCm39) |
|
probably null |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hsd17b7 |
A |
G |
1: 169,787,035 (GRCm39) |
V254A |
probably benign |
Het |
| Kif21a |
T |
A |
15: 90,840,633 (GRCm39) |
D143V |
probably damaging |
Het |
| Lrrc9 |
T |
C |
12: 72,557,186 (GRCm39) |
V1417A |
possibly damaging |
Het |
| Macf1 |
C |
T |
4: 123,274,237 (GRCm39) |
A4926T |
possibly damaging |
Het |
| Mef2a |
A |
C |
7: 66,914,620 (GRCm39) |
S91R |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,222,916 (GRCm39) |
|
probably null |
Het |
| Or6c65 |
T |
A |
10: 129,603,973 (GRCm39) |
F203I |
probably benign |
Het |
| Pbx2 |
A |
G |
17: 34,813,024 (GRCm39) |
D160G |
probably damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,619,790 (GRCm39) |
F527L |
probably benign |
Het |
| Ppm1b |
T |
C |
17: 85,301,489 (GRCm39) |
L123P |
probably damaging |
Het |
| Ppm1k |
T |
A |
6: 57,499,813 (GRCm39) |
K154N |
probably benign |
Het |
| Ppp2r1a |
T |
G |
17: 21,185,731 (GRCm39) |
*590G |
probably null |
Het |
| Raver1 |
A |
T |
9: 20,990,536 (GRCm39) |
L589Q |
probably damaging |
Het |
| Rrbp1 |
A |
G |
2: 143,832,081 (GRCm39) |
S29P |
probably damaging |
Het |
| Senp5 |
A |
G |
16: 31,784,634 (GRCm39) |
Y673H |
probably damaging |
Het |
| Serpina3j |
T |
A |
12: 104,281,473 (GRCm39) |
|
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Stag3 |
A |
G |
5: 138,287,492 (GRCm39) |
Q139R |
probably damaging |
Het |
| Sva |
T |
A |
6: 42,019,104 (GRCm39) |
H91Q |
probably benign |
Het |
| Tmem263 |
C |
T |
10: 84,950,295 (GRCm39) |
Q29* |
probably null |
Het |
| Tpp1 |
T |
C |
7: 105,400,857 (GRCm39) |
N57D |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r27 |
T |
A |
6: 124,177,484 (GRCm39) |
I507L |
probably benign |
Het |
| Wdr11 |
A |
T |
7: 129,234,046 (GRCm39) |
|
probably null |
Het |
| Zfp236 |
C |
T |
18: 82,700,344 (GRCm39) |
E42K |
probably damaging |
Het |
|
| Other mutations in Serpinc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00695:Serpinc1
|
APN |
1 |
160,820,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01987:Serpinc1
|
APN |
1 |
160,820,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02272:Serpinc1
|
APN |
1 |
160,827,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02574:Serpinc1
|
APN |
1 |
160,830,029 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02730:Serpinc1
|
APN |
1 |
160,827,598 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02861:Serpinc1
|
APN |
1 |
160,827,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03377:Serpinc1
|
APN |
1 |
160,821,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0277:Serpinc1
|
UTSW |
1 |
160,817,272 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R1294:Serpinc1
|
UTSW |
1 |
160,817,211 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1368:Serpinc1
|
UTSW |
1 |
160,821,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1433:Serpinc1
|
UTSW |
1 |
160,820,974 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1436:Serpinc1
|
UTSW |
1 |
160,820,981 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1480:Serpinc1
|
UTSW |
1 |
160,822,889 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1703:Serpinc1
|
UTSW |
1 |
160,821,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1775:Serpinc1
|
UTSW |
1 |
160,817,217 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2007:Serpinc1
|
UTSW |
1 |
160,821,110 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3757:Serpinc1
|
UTSW |
1 |
160,829,935 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5134:Serpinc1
|
UTSW |
1 |
160,825,140 (GRCm39) |
splice site |
probably null |
|
|
R5252:Serpinc1
|
UTSW |
1 |
160,817,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7033:Serpinc1
|
UTSW |
1 |
160,825,091 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7254:Serpinc1
|
UTSW |
1 |
160,821,188 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7262:Serpinc1
|
UTSW |
1 |
160,817,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7429:Serpinc1
|
UTSW |
1 |
160,823,011 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8169:Serpinc1
|
UTSW |
1 |
160,820,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8490:Serpinc1
|
UTSW |
1 |
160,817,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9502:Serpinc1
|
UTSW |
1 |
160,821,179 (GRCm39) |
nonsense |
probably null |
|
|
R9627:Serpinc1
|
UTSW |
1 |
160,821,101 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Serpinc1
|
UTSW |
1 |
160,817,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation