Incidental Mutation 'R3908:Serpinb9f'
| ID |
310299 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinb9f
|
| Ensembl Gene |
ENSMUSG00000038327 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 9f |
| Synonyms |
NK21, ovalbumin, Spi13 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R3908 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
33508060-33519353 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33511919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 141
(T141A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075515]
|
| AlphaFold |
Q80UK5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075515
AA Change: T141A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000074958
Gene: ENSMUSG00000038327
AA Change: T141A
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
377 |
2.03e-166 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,067,151 (GRCm39) |
V1352A |
possibly damaging |
Het |
| Abcb7 |
G |
T |
X: 103,327,765 (GRCm39) |
Q715K |
probably benign |
Het |
| Adamts3 |
C |
A |
5: 90,009,214 (GRCm39) |
G150C |
probably damaging |
Het |
| Cacng1 |
C |
A |
11: 107,607,118 (GRCm39) |
V34L |
probably benign |
Het |
| Ddi2 |
T |
C |
4: 141,411,592 (GRCm39) |
D440G |
probably benign |
Het |
| Esp34 |
A |
G |
17: 38,870,532 (GRCm39) |
D74G |
possibly damaging |
Het |
| Fanci |
T |
C |
7: 79,083,257 (GRCm39) |
V748A |
possibly damaging |
Het |
| Fat1 |
G |
C |
8: 45,476,072 (GRCm39) |
R1706T |
probably benign |
Het |
| Hspa1a |
C |
T |
17: 35,190,703 (GRCm39) |
V67M |
probably damaging |
Het |
| Il22 |
C |
T |
10: 118,041,529 (GRCm39) |
R81* |
probably null |
Het |
| Jak2 |
T |
A |
19: 29,268,673 (GRCm39) |
L583Q |
probably damaging |
Het |
| Kcnj4 |
G |
T |
15: 79,369,946 (GRCm39) |
H11Q |
probably benign |
Het |
| Kif11 |
A |
G |
19: 37,379,169 (GRCm39) |
I287V |
probably damaging |
Het |
| Lasp1 |
G |
A |
11: 97,690,653 (GRCm39) |
V12M |
probably damaging |
Het |
| Matr3 |
C |
T |
18: 35,705,894 (GRCm39) |
P273L |
probably damaging |
Het |
| Mpp4 |
T |
A |
1: 59,188,196 (GRCm39) |
H183L |
probably damaging |
Het |
| Myh10 |
T |
C |
11: 68,661,885 (GRCm39) |
|
probably null |
Het |
| Or52h7 |
T |
C |
7: 104,213,848 (GRCm39) |
I140T |
probably benign |
Het |
| Ppp1r12b |
A |
G |
1: 134,770,470 (GRCm39) |
S617P |
probably damaging |
Het |
| Psmb1 |
T |
C |
17: 15,710,543 (GRCm39) |
Y2C |
probably damaging |
Het |
| Pwwp3a |
T |
C |
10: 80,074,150 (GRCm39) |
V401A |
probably damaging |
Het |
| Slc38a4 |
T |
C |
15: 96,910,875 (GRCm39) |
|
probably null |
Het |
| Vmn2r9 |
C |
A |
5: 108,995,785 (GRCm39) |
A288S |
probably benign |
Het |
| Zbtb12 |
A |
T |
17: 35,115,244 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Serpinb9f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02113:Serpinb9f
|
APN |
13 |
33,518,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03272:Serpinb9f
|
APN |
13 |
33,511,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0112:Serpinb9f
|
UTSW |
13 |
33,511,934 (GRCm39) |
splice site |
probably benign |
|
|
R0254:Serpinb9f
|
UTSW |
13 |
33,518,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0498:Serpinb9f
|
UTSW |
13 |
33,509,990 (GRCm39) |
splice site |
probably benign |
|
|
R0711:Serpinb9f
|
UTSW |
13 |
33,511,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1004:Serpinb9f
|
UTSW |
13 |
33,518,225 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R1913:Serpinb9f
|
UTSW |
13 |
33,509,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2214:Serpinb9f
|
UTSW |
13 |
33,518,592 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6182:Serpinb9f
|
UTSW |
13 |
33,518,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6421:Serpinb9f
|
UTSW |
13 |
33,518,516 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6965:Serpinb9f
|
UTSW |
13 |
33,509,859 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7043:Serpinb9f
|
UTSW |
13 |
33,509,970 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7406:Serpinb9f
|
UTSW |
13 |
33,518,543 (GRCm39) |
nonsense |
probably null |
|
|
R8182:Serpinb9f
|
UTSW |
13 |
33,518,603 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8234:Serpinb9f
|
UTSW |
13 |
33,509,898 (GRCm39) |
missense |
probably benign |
|
|
R8341:Serpinb9f
|
UTSW |
13 |
33,511,290 (GRCm39) |
nonsense |
probably null |
|
|
R8492:Serpinb9f
|
UTSW |
13 |
33,518,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8794:Serpinb9f
|
UTSW |
13 |
33,513,396 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9433:Serpinb9f
|
UTSW |
13 |
33,518,238 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9508:Serpinb9f
|
UTSW |
13 |
33,518,515 (GRCm39) |
missense |
probably benign |
|
|
X0019:Serpinb9f
|
UTSW |
13 |
33,518,517 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTAAGGCAGCCTAGACCAC -3'
(R):5'- GAACCTCCATGAACTCCTTGATC -3'
Sequencing Primer
(F):5'- GCCTAGACCACATAATAAGACTTGC -3'
(R):5'- CCTTGATCTCTAAACTGAACCATGTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation