Incidental Mutation 'R2400:Serpinb5'
| ID |
248645 |
| 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 |
040366-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.845)
|
| Stock # |
R2400 (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 106809682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 363
(T363A)
|
| 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: T363A
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000083908
Gene: ENSMUSG00000067006
AA Change: T363A
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
375 |
9.76e-160 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112729
AA Change: T363A
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108349
Gene: ENSMUSG00000067006
AA Change: T363A
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
375 |
9.76e-160 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112730
AA Change: T363A
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108350
Gene: ENSMUSG00000067006
AA Change: T363A
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 7530416G11Rik |
T |
C |
15: 85,377,566 (GRCm39) |
T133A |
unknown |
Het |
| Adgrl2 |
G |
T |
3: 148,557,570 (GRCm39) |
S519R |
probably damaging |
Het |
| AU041133 |
A |
T |
10: 81,986,742 (GRCm39) |
K132* |
probably null |
Het |
| Bhlhe22 |
A |
G |
3: 18,109,615 (GRCm39) |
N222D |
probably damaging |
Het |
| Cep72 |
C |
A |
13: 74,197,096 (GRCm39) |
A69S |
probably damaging |
Het |
| Csn1s2a |
T |
A |
5: 87,928,014 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,900,030 (GRCm39) |
F872I |
probably benign |
Het |
| Dhx57 |
T |
C |
17: 80,567,845 (GRCm39) |
D746G |
probably damaging |
Het |
| Dnah17 |
T |
A |
11: 118,017,210 (GRCm39) |
|
probably null |
Het |
| Fgg |
A |
G |
3: 82,915,494 (GRCm39) |
D37G |
possibly damaging |
Het |
| Fnip2 |
G |
T |
3: 79,386,941 (GRCm39) |
S958R |
probably benign |
Het |
| Gfpt1 |
A |
G |
6: 87,064,330 (GRCm39) |
D640G |
probably damaging |
Het |
| Golgb1 |
C |
A |
16: 36,738,828 (GRCm39) |
T2389K |
possibly damaging |
Het |
| Hmgcl |
C |
A |
4: 135,679,679 (GRCm39) |
|
probably null |
Het |
| Mmp11 |
T |
A |
10: 75,761,344 (GRCm39) |
T419S |
probably benign |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Nkiras1 |
T |
A |
14: 18,280,011 (GRCm38) |
V108E |
possibly damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,238,245 (GRCm39) |
L22P |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,334,021 (GRCm39) |
Y3077H |
probably damaging |
Het |
| Sec62 |
A |
G |
3: 30,864,681 (GRCm39) |
N182D |
unknown |
Het |
| Usf3 |
T |
A |
16: 44,036,110 (GRCm39) |
S197T |
probably benign |
Het |
| Vmn2r11 |
T |
A |
5: 109,199,928 (GRCm39) |
E508D |
probably benign |
Het |
| Wdr81 |
A |
G |
11: 75,339,861 (GRCm39) |
F1376L |
probably benign |
Het |
| Zfp260 |
T |
C |
7: 29,804,126 (GRCm39) |
S9P |
possibly damaging |
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 |
|
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'- GCTAGTCTGGAAAGCCTAGG -3'
(R):5'- GACAAATGTGGACTGCTTCC -3'
Sequencing Primer
(F):5'- GCCTAGGGCTGAAAAGTCTCTTC -3'
(R):5'- GACAAATGTGGACTGCTTCCTGATTC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation