Incidental Mutation 'R2923:Serpinb5'
ID |
255599 |
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 |
040508-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.859)
|
Stock # |
R2923 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
106788905-106811078 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 106803770 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 152
(S152N)
|
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: S152N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000083908 Gene: ENSMUSG00000067006 AA Change: S152N
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
375 |
9.76e-160 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112729
AA Change: S152N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108349 Gene: ENSMUSG00000067006 AA Change: S152N
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
375 |
9.76e-160 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112730
AA Change: S152N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108350 Gene: ENSMUSG00000067006 AA Change: S152N
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 |
|
Meta Mutation Damage Score |
0.0766 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
98% (46/47) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam4 |
A |
T |
12: 81,467,518 (GRCm39) |
C368S |
probably damaging |
Het |
Adamts3 |
T |
C |
5: 90,009,393 (GRCm39) |
D90G |
possibly damaging |
Het |
Astn2 |
T |
C |
4: 65,832,010 (GRCm39) |
Y500C |
probably damaging |
Het |
Atp12a |
A |
T |
14: 56,612,079 (GRCm39) |
T418S |
probably benign |
Het |
Atp6v0a2 |
C |
T |
5: 124,794,981 (GRCm39) |
T656M |
possibly damaging |
Het |
Camsap2 |
G |
A |
1: 136,208,547 (GRCm39) |
P971S |
possibly damaging |
Het |
Ccdc116 |
T |
C |
16: 16,960,307 (GRCm39) |
H170R |
probably benign |
Het |
Ccn5 |
G |
A |
2: 163,674,266 (GRCm39) |
R222Q |
probably benign |
Het |
Cemip2 |
A |
G |
19: 21,795,303 (GRCm39) |
D732G |
possibly damaging |
Het |
Clpb |
A |
G |
7: 101,372,035 (GRCm39) |
D257G |
probably benign |
Het |
Cpb2 |
T |
C |
14: 75,493,473 (GRCm39) |
|
probably null |
Het |
D430041D05Rik |
G |
A |
2: 104,085,660 (GRCm39) |
T164I |
possibly damaging |
Het |
Dhx40 |
T |
G |
11: 86,680,089 (GRCm39) |
Q416P |
probably benign |
Het |
Dnah17 |
A |
G |
11: 117,984,373 (GRCm39) |
F1636S |
probably damaging |
Het |
Fhl3 |
T |
C |
4: 124,599,463 (GRCm39) |
S13P |
probably damaging |
Het |
Gapvd1 |
A |
T |
2: 34,578,875 (GRCm39) |
I1249N |
probably damaging |
Het |
Gm10604 |
C |
T |
4: 11,980,122 (GRCm39) |
A61T |
unknown |
Het |
Gm20939 |
T |
A |
17: 95,184,721 (GRCm39) |
H456Q |
probably damaging |
Het |
Golga4 |
T |
A |
9: 118,388,411 (GRCm39) |
S1844R |
possibly damaging |
Het |
Grm6 |
G |
C |
11: 50,755,348 (GRCm39) |
G827R |
probably damaging |
Het |
Grm7 |
T |
A |
6: 111,472,866 (GRCm39) |
|
probably null |
Het |
Hdc |
G |
A |
2: 126,435,910 (GRCm39) |
P654S |
probably damaging |
Het |
Hoxb1 |
T |
C |
11: 96,257,119 (GRCm39) |
L156P |
probably benign |
Het |
Ipo9 |
G |
T |
1: 135,327,867 (GRCm39) |
Q515K |
probably benign |
Het |
Kcnk3 |
T |
C |
5: 30,779,414 (GRCm39) |
S155P |
probably damaging |
Het |
Mboat2 |
T |
A |
12: 25,004,239 (GRCm39) |
W347R |
probably damaging |
Het |
Mib1 |
C |
T |
18: 10,760,831 (GRCm39) |
Q374* |
probably null |
Het |
Ncor2 |
A |
G |
5: 125,132,855 (GRCm39) |
F44S |
probably damaging |
Het |
Nipal3 |
A |
T |
4: 135,204,776 (GRCm39) |
I125N |
probably damaging |
Het |
Or4c113 |
A |
G |
2: 88,884,843 (GRCm39) |
V309A |
probably benign |
Het |
Or51a43 |
A |
G |
7: 103,717,794 (GRCm39) |
V148A |
probably benign |
Het |
Ovch2 |
A |
G |
7: 107,389,596 (GRCm39) |
L317P |
possibly damaging |
Het |
Pnpla2 |
T |
A |
7: 141,035,380 (GRCm39) |
C61S |
probably benign |
Het |
Ppp1r16b |
G |
T |
2: 158,598,877 (GRCm39) |
L312F |
probably damaging |
Het |
Rdm1 |
T |
A |
11: 101,521,716 (GRCm39) |
L157H |
possibly damaging |
Het |
Rpl22 |
C |
A |
4: 152,412,002 (GRCm39) |
T26N |
possibly damaging |
Het |
Rptn |
A |
G |
3: 93,306,015 (GRCm39) |
Y1116C |
possibly damaging |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
St8sia1 |
A |
T |
6: 142,774,963 (GRCm39) |
F205L |
probably damaging |
Het |
Stab2 |
A |
G |
10: 86,697,325 (GRCm39) |
Y1988H |
probably damaging |
Het |
Susd3 |
A |
T |
13: 49,401,945 (GRCm39) |
M1K |
probably null |
Het |
Syne3 |
A |
T |
12: 104,934,343 (GRCm39) |
L55Q |
probably damaging |
Het |
Tmx1 |
T |
A |
12: 70,512,895 (GRCm39) |
C268S |
probably benign |
Het |
Ttll1 |
T |
C |
15: 83,376,760 (GRCm39) |
K321R |
probably damaging |
Het |
Zdhhc18 |
G |
T |
4: 133,360,455 (GRCm39) |
H82Q |
probably benign |
Het |
Zhx1 |
T |
C |
15: 57,917,077 (GRCm39) |
I390V |
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 |
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'- CAGTTGTCTTTCCTGCCAGG -3'
(R):5'- AGAGATTCATTCCTGTACCCTGC -3'
Sequencing Primer
(F):5'- CAGTGTCTAGATATCCTTTCCTAGAG -3'
(R):5'- GCTCTACTGCCATGTGTTTGGAC -3'
|
Posted On |
2014-12-29 |