Incidental Mutation 'R5713:Serpind1'
| ID |
451016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpind1
|
| Ensembl Gene |
ENSMUSG00000022766 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade D, member 1 |
| Synonyms |
HC II, heparin cofactor II, Hcf2, HCII |
| MMRRC Submission |
043335-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R5713 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
17149235-17161438 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17154851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 226
(E226G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156303
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023450]
[ENSMUST00000036161]
[ENSMUST00000161034]
[ENSMUST00000231884]
[ENSMUST00000232232]
|
| AlphaFold |
P49182 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023450
AA Change: E226G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023450
Gene: ENSMUSG00000022766
AA Change: E226G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
53 |
73 |
N/A |
INTRINSIC |
|
SERPIN
|
114 |
475 |
9.76e-160 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036161
|
| SMART Domains |
Protein: ENSMUSP00000036162
Gene: ENSMUSG00000041720
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
198 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
243 |
253 |
N/A |
INTRINSIC |
|
SCOP:d1gw5a_
|
268 |
675 |
2e-3 |
SMART |
|
low complexity region
|
895 |
907 |
N/A |
INTRINSIC |
|
PI3Ka
|
1483 |
1671 |
2.11e-54 |
SMART |
|
Blast:PI3Kc
|
1688 |
1762 |
2e-39 |
BLAST |
|
PI3Kc
|
1788 |
2041 |
4.04e-106 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083397
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132300
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161034
AA Change: E226G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125507
Gene: ENSMUSG00000022766
AA Change: E226G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
53 |
73 |
N/A |
INTRINSIC |
|
SERPIN
|
114 |
475 |
9.76e-160 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231884
AA Change: E226G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231961
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232232
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232404
|
| Meta Mutation Damage Score |
0.5418 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
98% (56/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the serpin gene superfamily. Serpins play roles in many processes including inflammation, blood clotting, and cancer metastasis. Members of this family have highly conserved secondary structures with a reactive center loop that interacts with the protease active site to inhibit protease activity. This gene encodes a plasma serine protease that functions as a thrombin and chymotrypsin inhibitor. The protein is activated by heparin, dermatan sulfate, and glycosaminoglycans. Allelic variations in this gene are associated with heparin cofactor II deficiency. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
T |
A |
3: 40,889,414 (GRCm39) |
Y431* |
probably null |
Het |
| Abtb3 |
A |
T |
10: 85,487,516 (GRCm39) |
I995F |
probably damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Arid1b |
C |
A |
17: 5,387,091 (GRCm39) |
R1515S |
probably damaging |
Het |
| Atp5mc3 |
A |
G |
2: 73,739,651 (GRCm39) |
V63A |
probably benign |
Het |
| Bmp6 |
C |
T |
13: 38,682,928 (GRCm39) |
P473S |
probably damaging |
Het |
| Casp3 |
C |
A |
8: 47,089,349 (GRCm39) |
T199K |
probably damaging |
Het |
| Ccl3 |
C |
T |
11: 83,540,066 (GRCm39) |
C13Y |
possibly damaging |
Het |
| Cdc42bpa |
T |
C |
1: 179,911,975 (GRCm39) |
S518P |
probably benign |
Het |
| Clic3 |
A |
T |
2: 25,348,179 (GRCm39) |
I109F |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,916,049 (GRCm39) |
D2301V |
possibly damaging |
Het |
| Gm26627 |
A |
G |
6: 29,507,850 (GRCm39) |
|
probably benign |
Het |
| Gm4887 |
A |
T |
7: 104,471,000 (GRCm39) |
|
noncoding transcript |
Het |
| Hc |
A |
C |
2: 34,903,543 (GRCm39) |
I1037S |
probably damaging |
Het |
| Il2rb |
A |
G |
15: 78,376,048 (GRCm39) |
M1T |
probably null |
Het |
| Ing5 |
T |
A |
1: 93,740,452 (GRCm39) |
D124E |
probably benign |
Het |
| Jak2 |
A |
G |
19: 29,248,793 (GRCm39) |
E90G |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 33,836,949 (GRCm39) |
I522N |
probably benign |
Het |
| Lipa |
A |
T |
19: 34,500,832 (GRCm39) |
H71Q |
probably benign |
Het |
| Lmnb2 |
C |
T |
10: 80,741,921 (GRCm39) |
V57M |
probably damaging |
Het |
| Mllt3 |
A |
T |
4: 87,759,448 (GRCm39) |
M200K |
probably benign |
Het |
| Mtpap |
G |
A |
18: 4,396,280 (GRCm39) |
S524N |
probably benign |
Het |
| Mup21 |
C |
G |
4: 62,068,511 (GRCm39) |
E52Q |
probably damaging |
Het |
| Nasp |
A |
G |
4: 116,471,558 (GRCm39) |
F90L |
probably benign |
Het |
| Nr1d1 |
T |
C |
11: 98,661,237 (GRCm39) |
D343G |
probably benign |
Het |
| Otop2 |
T |
A |
11: 115,219,870 (GRCm39) |
F237I |
probably damaging |
Het |
| Pax4 |
A |
G |
6: 28,446,184 (GRCm39) |
I103T |
probably damaging |
Het |
| Pde4a |
T |
A |
9: 21,114,813 (GRCm39) |
S430T |
probably damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,508,669 (GRCm39) |
N843D |
possibly damaging |
Het |
| Pla2g7 |
T |
A |
17: 43,905,183 (GRCm39) |
M37K |
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,935,060 (GRCm39) |
I864V |
probably damaging |
Het |
| Prr16 |
A |
G |
18: 51,435,910 (GRCm39) |
T130A |
probably damaging |
Het |
| Rbm24 |
A |
G |
13: 46,582,780 (GRCm39) |
D233G |
probably damaging |
Het |
| Rps29 |
C |
A |
12: 69,205,502 (GRCm39) |
R32L |
probably benign |
Het |
| Siglecg |
A |
T |
7: 43,058,226 (GRCm39) |
I38F |
probably damaging |
Het |
| Slc26a8 |
T |
A |
17: 28,880,853 (GRCm39) |
M308L |
probably benign |
Het |
| Supv3l1 |
A |
G |
10: 62,266,283 (GRCm39) |
V631A |
possibly damaging |
Het |
| Tcf12 |
T |
C |
9: 71,792,545 (GRCm39) |
*58W |
probably null |
Het |
| Trgc2 |
T |
A |
13: 19,491,515 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,293,515 (GRCm39) |
V203E |
possibly damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,691,290 (GRCm39) |
L411P |
probably damaging |
Het |
| Zfp874a |
A |
T |
13: 67,597,476 (GRCm39) |
D42E |
probably benign |
Het |
|
| Other mutations in Serpind1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01462:Serpind1
|
APN |
16 |
17,154,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1433:Serpind1
|
UTSW |
16 |
17,160,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1839:Serpind1
|
UTSW |
16 |
17,160,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1991:Serpind1
|
UTSW |
16 |
17,160,808 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2103:Serpind1
|
UTSW |
16 |
17,160,808 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2937:Serpind1
|
UTSW |
16 |
17,154,972 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4774:Serpind1
|
UTSW |
16 |
17,154,272 (GRCm39) |
missense |
probably benign |
|
|
R5233:Serpind1
|
UTSW |
16 |
17,154,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5493:Serpind1
|
UTSW |
16 |
17,157,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5720:Serpind1
|
UTSW |
16 |
17,157,696 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7553:Serpind1
|
UTSW |
16 |
17,154,539 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8311:Serpind1
|
UTSW |
16 |
17,160,730 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8402:Serpind1
|
UTSW |
16 |
17,154,949 (GRCm39) |
missense |
probably benign |
|
|
R8531:Serpind1
|
UTSW |
16 |
17,160,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9468:Serpind1
|
UTSW |
16 |
17,154,179 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9539:Serpind1
|
UTSW |
16 |
17,157,638 (GRCm39) |
nonsense |
probably null |
|
|
R9648:Serpind1
|
UTSW |
16 |
17,154,318 (GRCm39) |
missense |
probably benign |
0.18 |
|
X0020:Serpind1
|
UTSW |
16 |
17,154,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAGTACGAGGTTACCACC -3'
(R):5'- TGTCCCTGAATTAACCTAGTGTC -3'
Sequencing Primer
(F):5'- CATTCACAATCTCTTTCGAAAGCTG -3'
(R):5'- CACCTCAATACAGTTCTAAGCATTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation