Incidental Mutation 'IGL03373:Spint2'
| ID |
420404 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spint2
|
| Ensembl Gene |
ENSMUSG00000074227 |
| Gene Name |
serine protease inhibitor, Kunitz type 2 |
| Synonyms |
HAI-2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03373
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
28955748-28981337 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 28957634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098604]
[ENSMUST00000108236]
[ENSMUST00000207601]
|
| AlphaFold |
Q9WU03 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098604
|
| SMART Domains |
Protein: ENSMUSP00000096204
Gene: ENSMUSG00000074227
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
KU
|
36 |
89 |
3.02e-23 |
SMART |
|
KU
|
131 |
184 |
2.34e-20 |
SMART |
|
transmembrane domain
|
198 |
220 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108236
|
| SMART Domains |
Protein: ENSMUSP00000103871
Gene: ENSMUSG00000074227
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
KU
|
74 |
127 |
2.34e-20 |
SMART |
|
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207601
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208585
|
| 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 transmembrane protein with two extracellular Kunitz domains that inhibits a variety of serine proteases. The protein inhibits HGF activator which prevents the formation of active hepatocyte growth factor. This gene is a putative tumor suppressor, and mutations in this gene result in congenital sodium diarrhea. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous embryos carrying an insertional mutation fail to progress to the headfold stage and die at gastrulation displaying a severe clefting of the embryonic ectoderm at E7.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
A |
T |
12: 113,509,172 (GRCm39) |
Y515F |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,711,751 (GRCm39) |
V1075A |
probably damaging |
Het |
| Alox8 |
T |
C |
11: 69,077,443 (GRCm39) |
T436A |
probably benign |
Het |
| Cdc7 |
T |
A |
5: 107,120,785 (GRCm39) |
|
probably benign |
Het |
| Cdhr1 |
T |
A |
14: 36,818,257 (GRCm39) |
D65V |
possibly damaging |
Het |
| Dnase1 |
A |
G |
16: 3,857,707 (GRCm39) |
E278G |
probably damaging |
Het |
| Eif3g |
A |
T |
9: 20,805,722 (GRCm39) |
|
probably benign |
Het |
| Flnb |
G |
A |
14: 7,890,867 (GRCm38) |
|
probably null |
Het |
| Hars2 |
G |
T |
18: 36,918,998 (GRCm39) |
R86L |
probably damaging |
Het |
| Lmod1 |
C |
T |
1: 135,292,264 (GRCm39) |
A373V |
possibly damaging |
Het |
| Mdga2 |
A |
G |
12: 66,763,496 (GRCm39) |
I200T |
probably damaging |
Het |
| Mup1 |
T |
G |
4: 60,457,849 (GRCm39) |
|
probably benign |
Het |
| Nat8f5 |
A |
C |
6: 85,794,529 (GRCm39) |
S144A |
probably benign |
Het |
| Ndnf |
A |
C |
6: 65,681,272 (GRCm39) |
Y517S |
possibly damaging |
Het |
| Nedd4l |
G |
A |
18: 65,314,391 (GRCm39) |
|
probably benign |
Het |
| Nlrp4g |
A |
T |
9: 124,349,853 (GRCm38) |
|
noncoding transcript |
Het |
| Nob1 |
C |
T |
8: 108,144,678 (GRCm39) |
|
probably benign |
Het |
| Nploc4 |
G |
A |
11: 120,300,455 (GRCm39) |
R326* |
probably null |
Het |
| Obox3 |
A |
T |
7: 15,359,715 (GRCm39) |
V318D |
probably benign |
Het |
| Or10a3m |
G |
A |
7: 108,313,339 (GRCm39) |
V248I |
probably damaging |
Het |
| Or10ag57 |
T |
C |
2: 87,218,577 (GRCm39) |
F176S |
probably damaging |
Het |
| Pgm1 |
T |
C |
4: 99,818,741 (GRCm39) |
I130T |
probably damaging |
Het |
| Ptprk |
A |
T |
10: 28,442,533 (GRCm39) |
D845V |
probably damaging |
Het |
| Ptx4 |
T |
A |
17: 25,339,873 (GRCm39) |
S17T |
probably benign |
Het |
| Rasgrf1 |
T |
C |
9: 89,899,084 (GRCm39) |
|
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,596,096 (GRCm39) |
T426A |
probably damaging |
Het |
| Sfpq |
C |
A |
4: 126,920,578 (GRCm39) |
R564S |
possibly damaging |
Het |
| Vmn1r27 |
A |
G |
6: 58,192,689 (GRCm39) |
I105T |
probably damaging |
Het |
| Vmn1r78 |
T |
C |
7: 11,887,270 (GRCm39) |
S294P |
possibly damaging |
Het |
| Vmn2r40 |
T |
C |
7: 8,923,092 (GRCm39) |
D423G |
probably benign |
Het |
|
| Other mutations in Spint2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1754:Spint2
|
UTSW |
7 |
28,959,791 (GRCm39) |
splice site |
probably null |
|
|
R1992:Spint2
|
UTSW |
7 |
28,958,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4172:Spint2
|
UTSW |
7 |
28,963,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4668:Spint2
|
UTSW |
7 |
28,959,804 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4852:Spint2
|
UTSW |
7 |
28,956,211 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5299:Spint2
|
UTSW |
7 |
28,963,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6501:Spint2
|
UTSW |
7 |
28,963,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6746:Spint2
|
UTSW |
7 |
28,958,848 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7604:Spint2
|
UTSW |
7 |
28,957,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8038:Spint2
|
UTSW |
7 |
28,959,554 (GRCm39) |
intron |
probably benign |
|
|
R8734:Spint2
|
UTSW |
7 |
28,958,835 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1176:Spint2
|
UTSW |
7 |
28,956,247 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Z1177:Spint2
|
UTSW |
7 |
28,963,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation