Incidental Mutation 'R6797:Serpinb9b'
| ID |
533064 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinb9b
|
| Ensembl Gene |
ENSMUSG00000021403 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 9b |
| Synonyms |
R86, ovalbumin, Spi10, 1600019A21Rik, SPI-CI |
| MMRRC Submission |
044910-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6797 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
33211397-33224571 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33213467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 8
(N8S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006392
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006392]
|
| AlphaFold |
Q9DAV6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006392
AA Change: N8S
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000006392
Gene: ENSMUSG00000021403
AA Change: N8S
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
377 |
7.86e-164 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.8%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c18 |
T |
A |
13: 4,195,276 (GRCm39) |
I61L |
probably benign |
Het |
| Angptl2 |
T |
C |
2: 33,118,277 (GRCm39) |
V17A |
probably benign |
Het |
| Casp14 |
T |
C |
10: 78,550,975 (GRCm39) |
D70G |
possibly damaging |
Het |
| Cckbr |
A |
G |
7: 105,083,773 (GRCm39) |
M234V |
possibly damaging |
Het |
| Cd93 |
T |
C |
2: 148,284,044 (GRCm39) |
N434S |
probably benign |
Het |
| Cenpe |
A |
T |
3: 134,943,899 (GRCm39) |
Q938L |
possibly damaging |
Het |
| Col6a3 |
A |
C |
1: 90,731,810 (GRCm39) |
V1481G |
probably damaging |
Het |
| Dnah5 |
G |
T |
15: 28,233,384 (GRCm39) |
E248* |
probably null |
Het |
| Dnah5 |
G |
A |
15: 28,451,609 (GRCm39) |
R4349Q |
probably damaging |
Het |
| F11 |
A |
G |
8: 45,706,092 (GRCm39) |
Y98H |
probably benign |
Het |
| Fen1 |
A |
G |
19: 10,178,067 (GRCm39) |
F126L |
probably benign |
Het |
| Gpr146 |
G |
A |
5: 139,378,795 (GRCm39) |
G199D |
possibly damaging |
Het |
| Gramd1b |
A |
G |
9: 40,219,702 (GRCm39) |
I324T |
probably benign |
Het |
| H2bc12 |
A |
T |
13: 22,220,259 (GRCm39) |
N68I |
probably benign |
Het |
| Hivep1 |
C |
A |
13: 42,310,557 (GRCm39) |
S932R |
probably benign |
Het |
| Hk3 |
A |
T |
13: 55,158,644 (GRCm39) |
|
probably null |
Het |
| Hspbp1 |
T |
A |
7: 4,663,781 (GRCm39) |
M355L |
possibly damaging |
Het |
| Jaml |
T |
C |
9: 45,000,058 (GRCm39) |
C77R |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,687,505 (GRCm39) |
N452D |
possibly damaging |
Het |
| Krt5 |
T |
C |
15: 101,621,076 (GRCm39) |
Y57C |
unknown |
Het |
| Lipn |
A |
T |
19: 34,058,160 (GRCm39) |
M294L |
probably benign |
Het |
| Magel2 |
A |
G |
7: 62,029,907 (GRCm39) |
E937G |
unknown |
Het |
| Med13l |
G |
A |
5: 118,897,329 (GRCm39) |
|
probably null |
Het |
| Mrgprb8 |
G |
A |
7: 48,038,892 (GRCm39) |
V188I |
probably benign |
Het |
| Ocln |
T |
C |
13: 100,676,223 (GRCm39) |
D90G |
probably damaging |
Het |
| Ofcc1 |
C |
T |
13: 40,241,423 (GRCm39) |
R695Q |
possibly damaging |
Het |
| Or11h23 |
T |
A |
14: 50,948,563 (GRCm39) |
Y259N |
probably damaging |
Het |
| Or52ab7 |
G |
A |
7: 102,978,328 (GRCm39) |
V212I |
probably benign |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Pak5 |
A |
T |
2: 135,939,454 (GRCm39) |
H560Q |
probably damaging |
Het |
| Pigg |
T |
C |
5: 108,480,694 (GRCm39) |
S493P |
probably damaging |
Het |
| Ppp6r3 |
A |
G |
19: 3,564,719 (GRCm39) |
W185R |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,450,522 (GRCm39) |
D4189E |
probably damaging |
Het |
| Slit3 |
A |
G |
11: 35,524,779 (GRCm39) |
T730A |
possibly damaging |
Het |
| Srgap3 |
A |
T |
6: 112,806,503 (GRCm39) |
F53I |
probably damaging |
Het |
| Stc2 |
T |
A |
11: 31,315,351 (GRCm39) |
K163* |
probably null |
Het |
| Tasor2 |
T |
C |
13: 3,626,769 (GRCm39) |
I1060M |
probably benign |
Het |
| Tlk1 |
T |
A |
2: 70,568,770 (GRCm39) |
K411* |
probably null |
Het |
| Ttc27 |
G |
T |
17: 75,036,883 (GRCm39) |
L185F |
probably benign |
Het |
| Vmn2r102 |
C |
T |
17: 19,880,694 (GRCm39) |
Q12* |
probably null |
Het |
| Vmn2r95 |
C |
T |
17: 18,672,551 (GRCm39) |
|
probably benign |
Het |
| Vopp1 |
A |
G |
6: 57,739,492 (GRCm39) |
Y19H |
possibly damaging |
Het |
| Wdr64 |
T |
A |
1: 175,638,176 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Serpinb9b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00157:Serpinb9b
|
APN |
13 |
33,219,608 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00518:Serpinb9b
|
APN |
13 |
33,223,553 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL01939:Serpinb9b
|
APN |
13 |
33,223,648 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02472:Serpinb9b
|
APN |
13 |
33,223,953 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02632:Serpinb9b
|
APN |
13 |
33,223,806 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0255:Serpinb9b
|
UTSW |
13 |
33,222,003 (GRCm39) |
missense |
probably benign |
|
|
R0667:Serpinb9b
|
UTSW |
13 |
33,216,909 (GRCm39) |
nonsense |
probably null |
|
|
R0699:Serpinb9b
|
UTSW |
13 |
33,217,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0703:Serpinb9b
|
UTSW |
13 |
33,216,964 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1605:Serpinb9b
|
UTSW |
13 |
33,222,112 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1623:Serpinb9b
|
UTSW |
13 |
33,213,548 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1815:Serpinb9b
|
UTSW |
13 |
33,223,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1920:Serpinb9b
|
UTSW |
13 |
33,223,531 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1987:Serpinb9b
|
UTSW |
13 |
33,213,542 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1988:Serpinb9b
|
UTSW |
13 |
33,213,542 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3035:Serpinb9b
|
UTSW |
13 |
33,213,529 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3683:Serpinb9b
|
UTSW |
13 |
33,213,581 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3758:Serpinb9b
|
UTSW |
13 |
33,219,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4677:Serpinb9b
|
UTSW |
13 |
33,223,806 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5412:Serpinb9b
|
UTSW |
13 |
33,213,496 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5481:Serpinb9b
|
UTSW |
13 |
33,222,076 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5672:Serpinb9b
|
UTSW |
13 |
33,223,582 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5957:Serpinb9b
|
UTSW |
13 |
33,223,831 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7586:Serpinb9b
|
UTSW |
13 |
33,223,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8115:Serpinb9b
|
UTSW |
13 |
33,219,531 (GRCm39) |
missense |
probably null |
0.94 |
|
R8309:Serpinb9b
|
UTSW |
13 |
33,223,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8529:Serpinb9b
|
UTSW |
13 |
33,223,543 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8802:Serpinb9b
|
UTSW |
13 |
33,213,587 (GRCm39) |
missense |
probably benign |
|
|
R8810:Serpinb9b
|
UTSW |
13 |
33,213,452 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9020:Serpinb9b
|
UTSW |
13 |
33,223,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9310:Serpinb9b
|
UTSW |
13 |
33,219,523 (GRCm39) |
missense |
probably benign |
|
|
R9424:Serpinb9b
|
UTSW |
13 |
33,213,544 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0019:Serpinb9b
|
UTSW |
13 |
33,219,514 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGTAGTATGGTCTGCTGC -3'
(R):5'- ATGCATGTGACATGGGTAGG -3'
Sequencing Primer
(F):5'- TATGGTCTGCTGCCATGGCC -3'
(R):5'- TAGGGTTATGACAGAGAACATACCTG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation