Incidental Mutation 'R1385:Serpinb5'
ID |
163193 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Serpinb5
|
Ensembl Gene |
ENSMUSG00000067006 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 5 |
Synonyms |
1110036M19Rik, Maspin, ovalbumin, Spi7 |
MMRRC Submission |
039447-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.845)
|
Stock # |
R1385 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
106788905-106811078 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 106803853 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 180
(T180A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108350
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086701]
[ENSMUST00000112729]
[ENSMUST00000112730]
[ENSMUST00000188745]
|
AlphaFold |
P70124 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086701
AA Change: T180A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000083908 Gene: ENSMUSG00000067006 AA Change: T180A
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
375 |
9.76e-160 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112729
AA Change: T180A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108349 Gene: ENSMUSG00000067006 AA Change: T180A
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
375 |
9.76e-160 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112730
AA Change: T180A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108350 Gene: ENSMUSG00000067006 AA Change: T180A
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
375 |
9.76e-160 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000188745
AA Change: T9A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000140264 Gene: ENSMUSG00000067006 AA Change: T9A
Domain | Start | End | E-Value | Type |
Pfam:Serpin
|
1 |
74 |
1.6e-15 |
PFAM |
|
Meta Mutation Damage Score |
0.7920 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.5%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for one null allele displayed peri-implantation lethality with impaired endoderm development and attenuated inner cell mass growth. Mice homozygous for another null allele were viable and fertile with no gross abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh7a1 |
A |
G |
18: 56,675,357 (GRCm39) |
S269P |
probably damaging |
Het |
Arf3 |
A |
G |
15: 98,640,494 (GRCm39) |
V43A |
probably damaging |
Het |
Arhgap1 |
C |
A |
2: 91,501,176 (GRCm39) |
N457K |
probably damaging |
Het |
Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
Bltp3b |
A |
G |
10: 89,626,503 (GRCm39) |
N399S |
possibly damaging |
Het |
Ccdc39 |
C |
T |
3: 33,875,561 (GRCm39) |
E544K |
probably damaging |
Het |
Cfap44 |
A |
G |
16: 44,291,138 (GRCm39) |
E1546G |
probably damaging |
Het |
Cntn6 |
A |
G |
6: 104,838,861 (GRCm39) |
I900V |
probably benign |
Het |
Edem1 |
A |
G |
6: 108,823,645 (GRCm39) |
N347S |
probably damaging |
Het |
Erich6 |
A |
G |
3: 58,544,251 (GRCm39) |
I112T |
probably benign |
Het |
Gemin2 |
A |
G |
12: 59,064,932 (GRCm39) |
|
probably null |
Het |
Hunk |
T |
A |
16: 90,269,374 (GRCm39) |
V306E |
possibly damaging |
Het |
Hydin |
A |
G |
8: 111,249,836 (GRCm39) |
I2260V |
probably benign |
Het |
Insyn1 |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
9: 58,406,715 (GRCm39) |
|
probably benign |
Het |
Itgbl1 |
A |
G |
14: 123,898,923 (GRCm39) |
|
probably null |
Het |
Iws1 |
T |
A |
18: 32,223,483 (GRCm39) |
N630K |
probably benign |
Het |
Lama2 |
C |
A |
10: 27,100,039 (GRCm39) |
R822L |
probably benign |
Het |
Lrrc56 |
A |
G |
7: 140,785,438 (GRCm39) |
D130G |
probably damaging |
Het |
Mageb11 |
T |
A |
X: 89,935,874 (GRCm39) |
C43S |
probably benign |
Het |
Malrd1 |
A |
T |
2: 16,047,039 (GRCm39) |
I1722F |
unknown |
Het |
Mark4 |
G |
T |
7: 19,159,952 (GRCm39) |
|
probably null |
Het |
Muc5b |
T |
C |
7: 141,415,874 (GRCm39) |
V2940A |
probably benign |
Het |
Mxd1 |
T |
A |
6: 86,628,549 (GRCm39) |
Q62L |
probably damaging |
Het |
Ncapd2 |
A |
T |
6: 125,150,078 (GRCm39) |
S917T |
probably benign |
Het |
Nr2c2 |
T |
G |
6: 92,131,451 (GRCm39) |
F171C |
probably damaging |
Het |
Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
Nynrin |
A |
T |
14: 56,102,356 (GRCm39) |
Q675L |
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Ocstamp |
T |
C |
2: 165,237,959 (GRCm39) |
D435G |
probably benign |
Het |
Pdzd2 |
T |
C |
15: 12,411,108 (GRCm39) |
T553A |
probably benign |
Het |
Pllp |
A |
G |
8: 95,405,996 (GRCm39) |
Y96H |
probably benign |
Het |
Polg2 |
A |
G |
11: 106,659,149 (GRCm39) |
S455P |
probably damaging |
Het |
Ppp1r9b |
A |
G |
11: 94,883,037 (GRCm39) |
T222A |
probably benign |
Het |
Prkcd |
G |
A |
14: 30,329,362 (GRCm39) |
T26I |
probably damaging |
Het |
Prkcq |
A |
G |
2: 11,261,097 (GRCm39) |
H383R |
probably damaging |
Het |
Prune2 |
A |
G |
19: 17,102,312 (GRCm39) |
I2490M |
possibly damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Scn9a |
G |
A |
2: 66,393,886 (GRCm39) |
P229L |
probably damaging |
Het |
Slc5a2 |
G |
C |
7: 127,869,803 (GRCm39) |
R412P |
probably damaging |
Het |
Sphk2 |
A |
G |
7: 45,361,715 (GRCm39) |
I82T |
probably damaging |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Treml1 |
T |
G |
17: 48,667,226 (GRCm39) |
V37G |
probably damaging |
Het |
Trim33 |
A |
G |
3: 103,218,266 (GRCm39) |
K272E |
possibly damaging |
Het |
Trpv6 |
T |
C |
6: 41,598,063 (GRCm39) |
D748G |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,129,923 (GRCm39) |
H681R |
probably benign |
Het |
Vmn2r82 |
A |
T |
10: 79,232,325 (GRCm39) |
R775* |
probably null |
Het |
Xpo1 |
T |
C |
11: 23,211,863 (GRCm39) |
L8S |
probably damaging |
Het |
Zfand4 |
G |
A |
6: 116,250,599 (GRCm39) |
G10R |
probably damaging |
Het |
Zfp119a |
T |
A |
17: 56,172,826 (GRCm39) |
H339L |
probably damaging |
Het |
Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
|
Other mutations in Serpinb5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02237:Serpinb5
|
APN |
1 |
106,808,056 (GRCm39) |
missense |
probably benign |
0.01 |
R1480:Serpinb5
|
UTSW |
1 |
106,809,437 (GRCm39) |
missense |
probably benign |
|
R1497:Serpinb5
|
UTSW |
1 |
106,803,782 (GRCm39) |
missense |
probably benign |
0.08 |
R1503:Serpinb5
|
UTSW |
1 |
106,798,019 (GRCm39) |
missense |
possibly damaging |
0.76 |
R1933:Serpinb5
|
UTSW |
1 |
106,803,851 (GRCm39) |
missense |
probably damaging |
0.99 |
R2400:Serpinb5
|
UTSW |
1 |
106,809,682 (GRCm39) |
missense |
probably damaging |
0.98 |
R2567:Serpinb5
|
UTSW |
1 |
106,802,876 (GRCm39) |
missense |
probably benign |
0.33 |
R2923:Serpinb5
|
UTSW |
1 |
106,803,770 (GRCm39) |
missense |
probably benign |
|
R3148:Serpinb5
|
UTSW |
1 |
106,809,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R3820:Serpinb5
|
UTSW |
1 |
106,802,802 (GRCm39) |
nonsense |
probably null |
|
R4667:Serpinb5
|
UTSW |
1 |
106,800,025 (GRCm39) |
missense |
probably benign |
0.00 |
R4814:Serpinb5
|
UTSW |
1 |
106,800,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R4815:Serpinb5
|
UTSW |
1 |
106,800,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R4816:Serpinb5
|
UTSW |
1 |
106,800,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R4817:Serpinb5
|
UTSW |
1 |
106,800,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R5369:Serpinb5
|
UTSW |
1 |
106,809,487 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6108:Serpinb5
|
UTSW |
1 |
106,809,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R6222:Serpinb5
|
UTSW |
1 |
106,798,070 (GRCm39) |
missense |
probably benign |
0.09 |
R6251:Serpinb5
|
UTSW |
1 |
106,802,795 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6349:Serpinb5
|
UTSW |
1 |
106,809,495 (GRCm39) |
missense |
probably benign |
0.44 |
R6936:Serpinb5
|
UTSW |
1 |
106,798,148 (GRCm39) |
missense |
probably benign |
0.00 |
R6977:Serpinb5
|
UTSW |
1 |
106,800,077 (GRCm39) |
missense |
probably benign |
0.20 |
R7332:Serpinb5
|
UTSW |
1 |
106,800,091 (GRCm39) |
missense |
probably benign |
0.00 |
R7369:Serpinb5
|
UTSW |
1 |
106,802,879 (GRCm39) |
missense |
probably benign |
0.29 |
R7443:Serpinb5
|
UTSW |
1 |
106,809,700 (GRCm39) |
missense |
probably benign |
0.00 |
R7499:Serpinb5
|
UTSW |
1 |
106,800,119 (GRCm39) |
critical splice donor site |
probably null |
|
R7724:Serpinb5
|
UTSW |
1 |
106,802,872 (GRCm39) |
missense |
probably damaging |
0.98 |
R8425:Serpinb5
|
UTSW |
1 |
106,809,515 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9125:Serpinb5
|
UTSW |
1 |
106,798,137 (GRCm39) |
missense |
probably benign |
0.19 |
R9208:Serpinb5
|
UTSW |
1 |
106,803,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAACACCCCAGTCAGTTGTCTTTCC -3'
(R):5'- ACAATCCGGTGGCCTCTAGTTTGC -3'
Sequencing Primer
(F):5'- ATCCACTGCTGGAGTGAAC -3'
(R):5'- GCCTCTAGTTTGCTTTGTTTGC -3'
|
Posted On |
2014-03-17 |