Incidental Mutation 'S24628:Spint1'
| ID |
385647 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spint1
|
| Ensembl Gene |
ENSMUSG00000027315 |
| Gene Name |
serine protease inhibitor, Kunitz type 1 |
| Synonyms |
HAI-1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
S24628 ()
of strain
waterfowl
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
119067841-119079995 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119076096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 231
(T231A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028783]
[ENSMUST00000110816]
[ENSMUST00000110817]
|
| AlphaFold |
Q9R097 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028783
AA Change: T231A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028783
Gene: ENSMUSG00000027315
AA Change: T231A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
MANEC
|
39 |
134 |
1.18e-39 |
SMART |
|
Blast:PKD
|
162 |
237 |
6e-19 |
BLAST |
|
KU
|
242 |
295 |
3.75e-19 |
SMART |
|
LDLa
|
312 |
349 |
2.12e-8 |
SMART |
|
KU
|
367 |
420 |
8.04e-19 |
SMART |
|
transmembrane domain
|
444 |
466 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
492 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110816
AA Change: T231A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106440
Gene: ENSMUSG00000027315
AA Change: T231A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
MANEC
|
39 |
134 |
1.18e-39 |
SMART |
|
Blast:PKD
|
162 |
237 |
6e-19 |
BLAST |
|
KU
|
242 |
295 |
3.75e-19 |
SMART |
|
LDLa
|
312 |
349 |
2.12e-8 |
SMART |
|
KU
|
367 |
420 |
8.04e-19 |
SMART |
|
transmembrane domain
|
444 |
466 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
492 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110817
AA Change: T231A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106441
Gene: ENSMUSG00000027315
AA Change: T231A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
MANEC
|
39 |
134 |
1.18e-39 |
SMART |
|
Blast:PKD
|
162 |
237 |
6e-19 |
BLAST |
|
KU
|
242 |
295 |
3.75e-19 |
SMART |
|
LDLa
|
312 |
349 |
2.12e-8 |
SMART |
|
KU
|
367 |
420 |
8.04e-19 |
SMART |
|
transmembrane domain
|
444 |
466 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
492 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134872
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139903
|
| Meta Mutation Damage Score |
0.4366 |
| Coding Region Coverage |
- 1x: 98.1%
- 3x: 97.0%
- 10x: 94.3%
- 20x: 88.0%
|
| 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 member of the Kunitz family of serine protease inhibitors. The protein is a potent inhibitor specific for HGF activator and is thought to be involved in the regulation of the proteolytic activation of HGF in injured tissues. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit embryonic lethality at E10.5 or earlier, growth retardation, and widespread cell apoptosis. Placental development is impaired with abnormalities in branching morphogenesis, the formation of the labyrinth layer and placental function. [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 |
|---|
| Adgre4 |
G |
A |
17: 56,159,288 (GRCm39) |
V658I |
probably benign |
Het |
| Ccdc40 |
T |
C |
11: 119,122,944 (GRCm39) |
Y249H |
possibly damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Homo |
| Gbp4 |
G |
A |
5: 105,268,972 (GRCm39) |
R394C |
possibly damaging |
Het |
| Gpr183 |
C |
A |
14: 122,191,888 (GRCm39) |
C211F |
probably damaging |
Homo |
| Lcp1 |
A |
T |
14: 75,464,446 (GRCm39) |
I556F |
possibly damaging |
Het |
| Letm1 |
G |
A |
5: 33,904,788 (GRCm39) |
P513S |
probably benign |
Het |
| Letm1 |
G |
A |
5: 33,904,790 (GRCm39) |
P512L |
probably benign |
Het |
| Msh3 |
A |
G |
13: 92,483,294 (GRCm39) |
V283A |
possibly damaging |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Npr3 |
C |
A |
15: 11,848,649 (GRCm39) |
M439I |
probably benign |
Het |
| Or5m10 |
A |
T |
2: 85,717,782 (GRCm39) |
I213F |
possibly damaging |
Het |
| Or5m9 |
A |
T |
2: 85,877,399 (GRCm39) |
H191L |
probably benign |
Het |
| Pax5 |
G |
A |
4: 44,691,886 (GRCm39) |
A120V |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,179,419 (GRCm39) |
Y609C |
probably damaging |
Het |
| Plxna1 |
G |
A |
6: 89,334,318 (GRCm39) |
H104Y |
probably benign |
Homo |
| Rnf213 |
A |
T |
11: 119,305,295 (GRCm39) |
I509F |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,884,042 (GRCm39) |
S213G |
probably damaging |
Homo |
| Tbcel |
C |
A |
9: 42,355,796 (GRCm39) |
C139F |
probably benign |
Het |
| Thbs2 |
A |
C |
17: 14,900,235 (GRCm39) |
S573A |
probably benign |
Het |
| Tmem43 |
C |
A |
6: 91,459,300 (GRCm39) |
P257Q |
probably benign |
Homo |
| Tmprss13 |
A |
G |
9: 45,248,430 (GRCm39) |
|
probably null |
Het |
| Tnc |
C |
T |
4: 63,936,249 (GRCm39) |
G229D |
probably damaging |
Homo |
| Ugt1a10 |
TTCATCA |
TTCA |
1: 88,143,880 (GRCm39) |
|
probably benign |
Het |
| Vmn1r196 |
T |
A |
13: 22,478,006 (GRCm39) |
V215D |
probably damaging |
Homo |
| Vmn1r22 |
G |
T |
6: 57,877,317 (GRCm39) |
T220K |
probably benign |
Homo |
| Vmn2r116 |
G |
A |
17: 23,606,253 (GRCm39) |
M388I |
possibly damaging |
Het |
| Zap70 |
A |
G |
1: 36,809,892 (GRCm39) |
M1V |
probably null |
Homo |
| Zfp282 |
A |
G |
6: 47,874,815 (GRCm39) |
D340G |
probably damaging |
Homo |
| Zfp282 |
T |
A |
6: 47,881,987 (GRCm39) |
I558N |
possibly damaging |
Homo |
|
| Other mutations in Spint1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01351:Spint1
|
APN |
2 |
119,076,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02065:Spint1
|
APN |
2 |
119,068,698 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0206:Spint1
|
UTSW |
2 |
119,078,826 (GRCm39) |
splice site |
probably benign |
|
|
R0208:Spint1
|
UTSW |
2 |
119,078,826 (GRCm39) |
splice site |
probably benign |
|
|
R0415:Spint1
|
UTSW |
2 |
119,076,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0691:Spint1
|
UTSW |
2 |
119,076,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1236:Spint1
|
UTSW |
2 |
119,076,054 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2190:Spint1
|
UTSW |
2 |
119,068,661 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3890:Spint1
|
UTSW |
2 |
119,079,283 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4599:Spint1
|
UTSW |
2 |
119,076,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6280:Spint1
|
UTSW |
2 |
119,075,759 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8739:Spint1
|
UTSW |
2 |
119,079,286 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9735:Spint1
|
UTSW |
2 |
119,076,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATATCCAGTCTGTGTGCTCTC -3'
(R):5'- TTCCTTGGGGTCGTAGTACC -3'
Sequencing Primer
(F):5'- TCTGTGTGCTCTCCCGGG -3'
(R):5'- TCGTAGTACCAGCGTGGG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation