Incidental Mutation 'R1433:Serpinc1'
| ID |
159286 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinc1
|
| Ensembl Gene |
ENSMUSG00000026715 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 |
| Synonyms |
At3, At-3, ATIII, antithrombin |
| MMRRC Submission |
039488-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1433 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
160806153-160830113 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 160820974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 140
(K140N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068971
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064725]
[ENSMUST00000191936]
[ENSMUST00000194592]
[ENSMUST00000195438]
[ENSMUST00000195760]
|
| AlphaFold |
P32261 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064725
AA Change: K140N
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000068971
Gene: ENSMUSG00000026715
AA Change: K140N
| 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
AA Change: K19N
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000142122
Gene: ENSMUSG00000026715
AA Change: K19N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serpin
|
1 |
91 |
2e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194455
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000194592
AA Change: K140N
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141556
Gene: ENSMUSG00000026715
AA Change: K140N
| 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: ENSMUST00000194777
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000195438
AA Change: K19N
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000141834
Gene: ENSMUSG00000026715
AA Change: K19N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serpin
|
1 |
97 |
1.1e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195760
|
| SMART Domains |
Protein: ENSMUSP00000141864
Gene: ENSMUSG00000026715
| 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 |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 87.9%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp1 |
C |
T |
12: 30,945,934 (GRCm39) |
E140K |
possibly damaging |
Het |
| Acsm4 |
T |
A |
7: 119,293,042 (GRCm39) |
D57E |
probably damaging |
Het |
| Adamts9 |
A |
G |
6: 92,826,271 (GRCm39) |
|
probably null |
Het |
| Aen |
T |
A |
7: 78,557,060 (GRCm39) |
Y303N |
probably damaging |
Het |
| Alcam |
T |
C |
16: 52,116,115 (GRCm39) |
|
probably null |
Het |
| Apol7b |
A |
G |
15: 77,309,746 (GRCm39) |
L17P |
probably damaging |
Het |
| Cacna1c |
A |
T |
6: 118,629,754 (GRCm39) |
Y1058* |
probably null |
Het |
| Camk2d |
T |
C |
3: 126,601,873 (GRCm39) |
V354A |
probably benign |
Het |
| Carf |
T |
G |
1: 60,164,017 (GRCm39) |
M43R |
probably damaging |
Het |
| Casp8 |
T |
A |
1: 58,863,283 (GRCm39) |
F81Y |
probably damaging |
Het |
| Cd74 |
G |
A |
18: 60,937,064 (GRCm39) |
R20H |
probably benign |
Het |
| Cers5 |
A |
T |
15: 99,643,812 (GRCm39) |
Y16* |
probably null |
Het |
| Chuk |
A |
T |
19: 44,067,397 (GRCm39) |
M586K |
probably null |
Het |
| D130043K22Rik |
C |
A |
13: 25,055,324 (GRCm39) |
P496Q |
probably damaging |
Het |
| Dab2 |
A |
G |
15: 6,459,419 (GRCm39) |
R311G |
probably damaging |
Het |
| Depp1 |
A |
T |
6: 116,629,223 (GRCm39) |
S189C |
possibly damaging |
Het |
| Diaph1 |
A |
T |
18: 38,038,187 (GRCm39) |
I48N |
unknown |
Het |
| Dnajc13 |
T |
C |
9: 104,057,320 (GRCm39) |
D1560G |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,715,780 (GRCm39) |
S241P |
probably damaging |
Het |
| Efcab5 |
T |
C |
11: 76,996,204 (GRCm39) |
D1119G |
probably benign |
Het |
| Efr3a |
G |
T |
15: 65,740,906 (GRCm39) |
|
probably benign |
Het |
| Evc2 |
A |
G |
5: 37,550,427 (GRCm39) |
K814E |
probably damaging |
Het |
| Hic2 |
A |
G |
16: 17,076,686 (GRCm39) |
D505G |
probably benign |
Het |
| Ing1 |
T |
A |
8: 11,607,010 (GRCm39) |
V34D |
probably damaging |
Het |
| Inpp5k |
A |
G |
11: 75,528,317 (GRCm39) |
M172V |
probably benign |
Het |
| Itgae |
T |
C |
11: 73,006,418 (GRCm39) |
V362A |
probably damaging |
Het |
| Lama2 |
T |
A |
10: 27,063,750 (GRCm39) |
R1346S |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,882,943 (GRCm39) |
N450S |
probably damaging |
Het |
| Lrrn3 |
T |
A |
12: 41,502,583 (GRCm39) |
Y578F |
possibly damaging |
Het |
| Maml2 |
A |
T |
9: 13,617,797 (GRCm39) |
N381I |
probably damaging |
Het |
| Mettl15 |
T |
G |
2: 108,923,266 (GRCm39) |
E385D |
probably benign |
Het |
| Mthfr |
T |
A |
4: 148,139,900 (GRCm39) |
I623N |
possibly damaging |
Het |
| Muc4 |
A |
C |
16: 32,574,448 (GRCm39) |
N966T |
probably benign |
Het |
| Myoc |
A |
G |
1: 162,476,565 (GRCm39) |
Y423C |
probably damaging |
Het |
| Ncoa2 |
A |
T |
1: 13,218,602 (GRCm39) |
M1409K |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,187,039 (GRCm39) |
|
probably benign |
Het |
| Numb |
T |
C |
12: 83,844,033 (GRCm39) |
E395G |
probably damaging |
Het |
| Oas1g |
A |
G |
5: 121,020,012 (GRCm39) |
F198S |
probably damaging |
Het |
| Or2b28 |
T |
C |
13: 21,531,194 (GRCm39) |
V32A |
probably benign |
Het |
| Or5k17 |
A |
G |
16: 58,746,049 (GRCm39) |
V295A |
probably benign |
Het |
| Prdm13 |
T |
A |
4: 21,678,909 (GRCm39) |
Y527F |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,986,177 (GRCm39) |
L1106P |
probably damaging |
Het |
| Ptbp1 |
T |
A |
10: 79,699,107 (GRCm39) |
I555N |
probably damaging |
Het |
| Ptchd4 |
A |
T |
17: 42,814,606 (GRCm39) |
T836S |
possibly damaging |
Het |
| Rlbp1 |
T |
C |
7: 79,033,686 (GRCm39) |
D3G |
probably benign |
Het |
| Sdk2 |
T |
C |
11: 113,685,871 (GRCm39) |
E1883G |
probably damaging |
Het |
| Serpind1 |
A |
T |
16: 17,160,249 (GRCm39) |
Y382F |
probably damaging |
Het |
| Slc28a3 |
T |
C |
13: 58,710,920 (GRCm39) |
E534G |
probably damaging |
Het |
| Slco1a7 |
A |
G |
6: 141,711,429 (GRCm39) |
M94T |
probably benign |
Het |
| Ttyh2 |
T |
A |
11: 114,601,005 (GRCm39) |
I418N |
probably benign |
Het |
| Tubgcp4 |
C |
T |
2: 121,005,905 (GRCm39) |
Q98* |
probably null |
Het |
| Ugt2a2 |
A |
G |
5: 87,611,965 (GRCm39) |
L315P |
probably damaging |
Het |
| Vwa1 |
A |
T |
4: 155,857,358 (GRCm39) |
S147T |
probably damaging |
Het |
| Xylt1 |
T |
C |
7: 117,191,179 (GRCm39) |
V325A |
possibly damaging |
Het |
| Zfp335 |
T |
C |
2: 164,741,376 (GRCm39) |
H685R |
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 |
|
IGL01923:Serpinc1
|
APN |
1 |
160,817,116 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTCTACAGCCCCTTAAAGACCC -3'
(R):5'- GCTTGGCTCCATAGACAACCTCAC -3'
Sequencing Primer
(F):5'- TTAAAGACCCGGTGGCGTTC -3'
(R):5'- ACTAACATCTTGATAGCTCTCGTTG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation