Incidental Mutation 'R6421:Serpinb9f'
| ID |
518192 |
| 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 |
| MMRRC Submission |
044420-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R6421 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
33508060-33519353 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 33518516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 339
(I339L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075515]
|
| AlphaFold |
Q80UK5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075515
AA Change: I339L
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000074958
Gene: ENSMUSG00000038327
AA Change: I339L
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
377 |
2.03e-166 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.3%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf4 |
A |
T |
17: 42,983,392 (GRCm39) |
F97I |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,656,855 (GRCm39) |
S2160P |
possibly damaging |
Het |
| Anapc15-ps |
T |
C |
10: 95,509,076 (GRCm39) |
D68G |
probably benign |
Het |
| Arel1 |
T |
C |
12: 84,981,119 (GRCm39) |
Y296C |
probably damaging |
Het |
| Dcbld1 |
T |
C |
10: 52,162,450 (GRCm39) |
I147T |
probably damaging |
Het |
| Frem1 |
G |
A |
4: 82,912,365 (GRCm39) |
T669I |
probably damaging |
Het |
| Gm7276 |
T |
C |
18: 77,273,366 (GRCm39) |
|
probably benign |
Het |
| Grin2c |
A |
C |
11: 115,141,956 (GRCm39) |
M821R |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,779,282 (GRCm39) |
C2587S |
probably damaging |
Het |
| Lrriq4 |
T |
C |
3: 30,704,551 (GRCm39) |
L193P |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 70,143,700 (GRCm39) |
S1011G |
probably benign |
Het |
| Or6c6 |
A |
T |
10: 129,187,370 (GRCm39) |
K313* |
probably null |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Ptprj |
A |
G |
2: 90,301,484 (GRCm39) |
I123T |
possibly damaging |
Het |
| Scn1a |
T |
G |
2: 66,103,271 (GRCm39) |
K1985N |
probably damaging |
Het |
| Spata31e4 |
A |
G |
13: 50,855,987 (GRCm39) |
R542G |
probably benign |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Stx4a |
C |
A |
7: 127,445,673 (GRCm39) |
T193K |
probably damaging |
Het |
| Traf3ip2 |
T |
C |
10: 39,515,400 (GRCm39) |
|
probably null |
Het |
| Wwc2 |
A |
T |
8: 48,353,781 (GRCm39) |
Y118N |
probably damaging |
Het |
| Xpo1 |
A |
G |
11: 23,241,490 (GRCm39) |
T846A |
possibly damaging |
Het |
| Zfp616 |
A |
G |
11: 73,974,696 (GRCm39) |
N413D |
possibly damaging |
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 |
|
R3908:Serpinb9f
|
UTSW |
13 |
33,511,919 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6182:Serpinb9f
|
UTSW |
13 |
33,518,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ATGAATCGCACTGAGTTTCATG -3'
(R):5'- CCATCCTCACAGAGCAGTAAGG -3'
Sequencing Primer
(F):5'- GAGGATTATGATATGAATTCCCTGC -3'
(R):5'- CAGTAAGGCTGGTAGAGATGCC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation