Incidental Mutation 'R6936:Serpinb5'
ID |
540273 |
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 |
045050-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.845)
|
Stock # |
R6936 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
106788905-106811078 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 106798148 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 46
(T46S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108350
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086701]
[ENSMUST00000112729]
[ENSMUST00000112730]
[ENSMUST00000188745]
|
AlphaFold |
P70124 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000086701
AA Change: T46S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000083908 Gene: ENSMUSG00000067006 AA Change: T46S
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
375 |
9.76e-160 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112729
AA Change: T46S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000108349 Gene: ENSMUSG00000067006 AA Change: T46S
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
375 |
9.76e-160 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112730
AA Change: T46S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000108350 Gene: ENSMUSG00000067006 AA Change: T46S
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: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.7%
|
Validation Efficiency |
98% (48/49) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,248,568 (GRCm39) |
I2772F |
probably damaging |
Het |
Adam1a |
A |
G |
5: 121,657,425 (GRCm39) |
C623R |
probably damaging |
Het |
Ak2 |
T |
C |
4: 128,893,005 (GRCm39) |
S55P |
probably damaging |
Het |
Ak4 |
C |
T |
4: 101,304,456 (GRCm39) |
A82V |
probably benign |
Het |
Arhgap10 |
A |
T |
8: 78,037,376 (GRCm39) |
C617* |
probably null |
Het |
Art1 |
A |
T |
7: 101,755,977 (GRCm39) |
D56V |
possibly damaging |
Het |
Ascc3 |
A |
G |
10: 50,606,057 (GRCm39) |
D1392G |
probably damaging |
Het |
Bbs5 |
T |
C |
2: 69,484,698 (GRCm39) |
S123P |
probably damaging |
Het |
Cabin1 |
A |
T |
10: 75,551,592 (GRCm39) |
|
probably null |
Het |
Carmil3 |
G |
A |
14: 55,739,018 (GRCm39) |
E891K |
probably benign |
Het |
Cbfa2t3 |
C |
G |
8: 123,374,478 (GRCm39) |
R89P |
probably damaging |
Het |
Ccdc157 |
A |
G |
11: 4,094,030 (GRCm39) |
S534P |
probably benign |
Het |
Cep72 |
A |
T |
13: 74,188,206 (GRCm39) |
I229N |
probably damaging |
Het |
Cnn3 |
C |
T |
3: 121,243,702 (GRCm39) |
|
probably benign |
Het |
Cyp2c70 |
A |
G |
19: 40,156,007 (GRCm39) |
V181A |
probably damaging |
Het |
Cyp2d26 |
C |
T |
15: 82,676,741 (GRCm39) |
D202N |
probably benign |
Het |
Dbh |
A |
G |
2: 27,062,809 (GRCm39) |
K343E |
probably benign |
Het |
Dlx5 |
A |
G |
6: 6,879,585 (GRCm39) |
Y161H |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,409,414 (GRCm39) |
I3611F |
probably damaging |
Het |
Egf |
A |
C |
3: 129,474,853 (GRCm39) |
F563V |
possibly damaging |
Het |
Enpp1 |
T |
C |
10: 24,527,237 (GRCm39) |
H650R |
probably benign |
Het |
Exoc6 |
A |
G |
19: 37,560,311 (GRCm39) |
I109M |
probably benign |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fgg |
C |
T |
3: 82,915,727 (GRCm39) |
S56F |
possibly damaging |
Het |
Fras1 |
A |
G |
5: 96,916,211 (GRCm39) |
D3415G |
possibly damaging |
Het |
Ghsr |
A |
G |
3: 27,426,474 (GRCm39) |
I177V |
probably benign |
Het |
Gm1979 |
A |
T |
5: 26,207,028 (GRCm39) |
H62Q |
probably benign |
Het |
Gpatch2 |
A |
G |
1: 186,965,433 (GRCm39) |
D313G |
probably benign |
Het |
Gtf2i |
C |
T |
5: 134,271,639 (GRCm39) |
E823K |
probably damaging |
Het |
Hook2 |
C |
A |
8: 85,729,627 (GRCm39) |
T689N |
probably benign |
Het |
Hrnr |
A |
T |
3: 93,239,667 (GRCm39) |
N3302Y |
unknown |
Het |
Igkv7-33 |
G |
A |
6: 70,035,785 (GRCm39) |
P66S |
possibly damaging |
Het |
Kcnh2 |
T |
A |
5: 24,529,337 (GRCm39) |
I800F |
probably damaging |
Het |
Mcmbp |
G |
A |
7: 128,326,920 (GRCm39) |
Q21* |
probably null |
Het |
Mmp21 |
T |
C |
7: 133,280,704 (GRCm39) |
K89E |
probably benign |
Het |
Or4b13 |
A |
G |
2: 90,082,678 (GRCm39) |
V218A |
probably benign |
Het |
Or52r1c |
A |
T |
7: 102,735,021 (GRCm39) |
I94F |
probably damaging |
Het |
Pcdhga4 |
A |
G |
18: 37,820,458 (GRCm39) |
D669G |
possibly damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,832,997 (GRCm39) |
T169A |
probably damaging |
Het |
Sec31a |
T |
C |
5: 100,540,369 (GRCm39) |
N35S |
probably benign |
Het |
Svs5 |
A |
G |
2: 164,079,548 (GRCm39) |
S120P |
possibly damaging |
Het |
Tbpl2 |
T |
C |
2: 23,984,953 (GRCm39) |
T64A |
probably benign |
Het |
Tecpr2 |
T |
A |
12: 110,911,297 (GRCm39) |
H1111Q |
possibly damaging |
Het |
Tm9sf3 |
A |
G |
19: 41,211,638 (GRCm39) |
F402L |
probably benign |
Het |
Tmem120b |
T |
G |
5: 123,254,287 (GRCm39) |
V287G |
possibly damaging |
Het |
Tmem150c |
T |
C |
5: 100,231,577 (GRCm39) |
T133A |
possibly damaging |
Het |
Ubqln3 |
A |
T |
7: 103,791,517 (GRCm39) |
V191D |
probably damaging |
Het |
Ubr2 |
T |
C |
17: 47,283,957 (GRCm39) |
E564G |
possibly damaging |
Het |
Zkscan1 |
T |
C |
5: 138,091,567 (GRCm39) |
V100A |
probably 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 |
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 |
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'- GCTGGGAACACATTTTGCATTAG -3'
(R):5'- CCATCTCAATCCGGTACCTG -3'
Sequencing Primer
(F):5'- AGAAATTAAGTTTTGTGCTTGGTTC -3'
(R):5'- CCGGTACCTGTTCTAAATATAGGTTC -3'
|
Posted On |
2018-11-06 |