Incidental Mutation 'R3148:Serpinb5'
ID |
264311 |
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 |
040600-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.845)
|
Stock # |
R3148 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
106788905-106811078 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 106809555 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 320
(H320Q)
|
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: H320Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000083908 Gene: ENSMUSG00000067006 AA Change: H320Q
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
375 |
9.76e-160 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112729
AA Change: H320Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108349 Gene: ENSMUSG00000067006 AA Change: H320Q
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
375 |
9.76e-160 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112730
AA Change: H320Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108350 Gene: ENSMUSG00000067006 AA Change: H320Q
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
375 |
9.76e-160 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188745
|
SMART Domains |
Protein: ENSMUSP00000140264 Gene: ENSMUSG00000067006
Domain | Start | End | E-Value | Type |
Pfam:Serpin
|
1 |
74 |
1.6e-15 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933436I01Rik |
T |
C |
X: 66,964,984 (GRCm39) |
D12G |
probably benign |
Het |
Adamts18 |
C |
A |
8: 114,465,490 (GRCm39) |
V701L |
probably damaging |
Het |
Alg2 |
A |
T |
4: 47,472,259 (GRCm39) |
V183D |
probably damaging |
Het |
Ank2 |
T |
C |
3: 126,726,724 (GRCm39) |
I857V |
probably benign |
Het |
Asb15 |
G |
T |
6: 24,566,258 (GRCm39) |
A404S |
probably damaging |
Het |
Baalc |
A |
T |
15: 38,812,568 (GRCm39) |
E106V |
possibly damaging |
Het |
Catsperd |
G |
T |
17: 56,971,039 (GRCm39) |
C701F |
possibly damaging |
Het |
Cc2d2a |
T |
A |
5: 43,866,497 (GRCm39) |
I769N |
probably damaging |
Het |
Cntnap4 |
A |
G |
8: 113,484,071 (GRCm39) |
T375A |
probably damaging |
Het |
Col7a1 |
A |
G |
9: 108,790,473 (GRCm39) |
T974A |
unknown |
Het |
Ehbp1 |
T |
C |
11: 22,050,465 (GRCm39) |
Y502C |
probably damaging |
Het |
Kcnj11 |
C |
T |
7: 45,748,544 (GRCm39) |
V260I |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Marf1 |
A |
G |
16: 13,943,843 (GRCm39) |
V1380A |
possibly damaging |
Het |
Or4k36 |
T |
C |
2: 111,146,633 (GRCm39) |
F270L |
possibly damaging |
Het |
Otog |
T |
C |
7: 45,939,593 (GRCm39) |
L2124P |
probably damaging |
Het |
Pam |
T |
A |
1: 97,823,403 (GRCm39) |
N256I |
possibly damaging |
Het |
Pcbp1 |
C |
T |
6: 86,502,471 (GRCm39) |
E143K |
probably damaging |
Het |
Pramel21 |
A |
T |
4: 143,344,047 (GRCm39) |
D449V |
probably benign |
Het |
Prrx1 |
T |
C |
1: 163,085,417 (GRCm39) |
D171G |
probably benign |
Het |
Rasal2 |
A |
T |
1: 157,071,334 (GRCm39) |
|
probably benign |
Het |
Snx4 |
A |
C |
16: 33,108,094 (GRCm39) |
D296A |
probably benign |
Het |
Sorcs2 |
T |
C |
5: 36,193,132 (GRCm39) |
Q778R |
probably benign |
Het |
Spata16 |
T |
C |
3: 26,932,861 (GRCm39) |
|
probably null |
Het |
Tcerg1l |
G |
T |
7: 137,861,596 (GRCm39) |
Q378K |
probably benign |
Het |
Trpm1 |
T |
C |
7: 63,884,760 (GRCm39) |
Y814H |
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 |
R1385:Serpinb5
|
UTSW |
1 |
106,803,853 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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'- ATTGTTACAGTGGACCAACCC -3'
(R):5'- CAAGTTCCCTGAGACTTGGC -3'
Sequencing Primer
(F):5'- GTTACAGTGGACCAACCCCAGTAC -3'
(R):5'- TTCCCTGAGACTTGGCAAGGC -3'
|
Posted On |
2015-02-05 |